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GTR Home > Laboratories > PreventionGenetics

PreventionGenetics

GTR Lab ID: 239772, Last updated:2023-03-02

Personnel

Conditions and tests

  • 2-aminoadipic 2-oxoadipic aciduria1 test
  • 2-hydroxyglutaric aciduria5 tests
  • 3 beta-Hydroxysteroid dehydrogenase deficiency5 tests
  • 3-hydroxy-3-methylglutaryl-CoA synthase deficiency5 tests
  • 3-M syndrome2 tests
  • 3-methylcrotonyl-CoA carboxylase 1 deficiency5 tests
  • 3-methylcrotonyl-CoA carboxylase 2 deficiency5 tests
  • 3-methylglutaconic aciduria type 14 tests
  • 3-Methylglutaconic aciduria type 213 tests
  • 3-Methylglutaconic aciduria type 34 tests
  • 3-methylglutaconic aciduria type 52 tests
  • 3-methylglutaconic aciduria type 82 tests
  • 3-methylglutaconic aciduria type 91 test
  • 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia3 tests
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome5 tests
  • 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency6 tests
  • 3M syndrome 12 tests
  • 3M syndrome 31 test
  • 3MC syndrome 11 test
  • 3MC syndrome 21 test
  • 46,XX ovarian dysgenesis-short stature syndrome5 tests
  • 46,XX sex reversal 16 tests
  • 46,XX sex reversal 42 tests
  • 46,xx sex reversal 52 tests
  • 46,XX testicular disorder of sex development1 test
  • 46,XY disorder of sex development and 46,XY complete gonadal dysgenesis1 test
  • 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency5 tests
  • 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome2 tests
  • 46,XY sex reversal 12 tests
  • 46,XY sex reversal 23 tests
  • 46,XY sex reversal 35 tests
  • 46,XY sex reversal 54 tests
  • 46,XY sex reversal 66 tests
  • 46,XY sex reversal 76 tests
  • 46,XY sex reversal 96 tests
  • 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency2 tests
  • 8q24.3 microdeletion syndrome1 test
  • Aarskog syndrome3 tests
  • ABCD syndrome3 tests
  • Abdominal obesity-metabolic syndrome 33 tests
  • Abetalipoproteinaemia1 test
  • Ablepharon macrostomia syndrome1 test
  • Abnormal activity of mitochondrial respiratory chain1 test
  • Abnormal bleeding1 test
  • Abnormality of connective tissue1 test
  • Abnormality of dental morphology1 test
  • Abnormality of metabolism/homeostasis1 test
  • Abnormality of mitochondrial metabolism1 test
  • Abnormality of the immune system1 test
  • Abnormality of the skeletal system2 tests
  • Abnormality of the skin1 test
  • Abortive cerebellar ataxia6 tests
  • ABri amyloidosis3 tests
  • Abruzzo-Erickson syndrome2 tests
  • Acatalasia1 test
  • Acheiropodia3 tests
  • Achondrogenesis type II12 tests
  • Achondrogenesis, type IA2 tests
  • Achondrogenesis, type IB5 tests
  • Achondroplasia12 tests
  • Achromatopsia2 tests
  • Achromatopsia 24 tests
  • Achromatopsia 33 tests
  • Achromatopsia 43 tests
  • Achromatopsia 72 tests
  • Acne inversa, familial, 31 test
  • Acquired hemoglobin H disease4 tests
  • Acquired partial lipodystrophy2 tests
  • Acquired polycythemia vera2 tests
  • Acral peeling skin syndrome3 tests
  • Acrocallosal syndrome8 tests
  • Acrocapitofemoral dysplasia3 tests
  • Acrocephalosyndactyly type I11 tests
  • Acrodysostosis1 test
  • Acrodysostosis 1 with or without hormone resistance1 test
  • Acrodysostosis 2 with or without hormone resistance6 tests
  • Acrofacial dysostosis Cincinnati type1 test
  • Acromelic frontonasal dysostosis2 tests
  • Acromesomelic dysplasia 1, Maroteaux type2 tests
  • Acromesomelic dysplasia 2B4 tests
  • Acromesomelic dysplasia 2C, Hunter-Thompson type4 tests
  • Acromesomelic dysplasia 32 tests
  • Acromicric dysplasia12 tests
  • Acroosteolysis-keloid-like lesions-premature aging syndrome3 tests
  • ACTH-independent macronodular adrenal hyperplasia 22 tests
  • Actin accumulation myopathy5 tests
  • Action myoclonus-renal failure syndrome3 tests
  • Aculeiform cataract1 test
  • Acute encephalopathy1 test
  • Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins3 tests
  • Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome1 test
  • Acute intermittent porphyria3 tests
  • Acute lymphoid leukemia2 tests
  • Acute myeloid leukemia16 tests
  • Acyl-CoA dehydrogenase 9 deficiency7 tests
  • Acyl-CoA oxidase deficiency5 tests
  • Adams-Oliver syndrome2 tests
  • Adams-Oliver syndrome 17 tests
  • Adams-Oliver syndrome 27 tests
  • Adams-Oliver syndrome 32 tests
  • Adams-Oliver syndrome 44 tests
  • Adams-Oliver syndrome 56 tests
  • Adams-Oliver syndrome 64 tests
  • ADan amyloidosis3 tests
  • Adenine phosphoribosyltransferase deficiency1 test
  • Adenosine kinase deficiency3 tests
  • Adenylosuccinate lyase deficiency5 tests
  • ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder3 tests
  • Adrenocortical carcinoma, hereditary5 tests
  • Adrenoleukodystrophy8 tests
  • Adult hypophosphatasia7 tests
  • Adult neuronal ceroid lipofuscinosis3 tests
  • Adult polyglucosan body disease2 tests
  • ADULT syndrome6 tests
  • Adult-onset autosomal dominant demyelinating leukodystrophy2 tests
  • Adult-onset foveomacular vitelliform dystrophy2 tests
  • Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency5 tests
  • Adult-onset proximal spinal muscular atrophy, autosomal dominant2 tests
  • Advanced sleep phase syndrome 21 test
  • Agammaglobulinemia2 tests
  • Agammaglobulinemia 2, autosomal recessive2 tests
  • Agammaglobulinemia 3, autosomal recessive2 tests
  • Agammaglobulinemia 4, autosomal recessive2 tests
  • Agammaglobulinemia 5, autosomal dominant2 tests
  • Agammaglobulinemia 6, autosomal recessive3 tests
  • Agammaglobulinemia 7, autosomal recessive6 tests
  • Agammaglobulinemia 8, autosomal dominant2 tests
  • Aganglionic megacolon2 tests
  • Age related macular degeneration 11 test
  • Age related macular degeneration 111 test
  • Age related macular degeneration 21 test
  • Age related macular degeneration 42 tests
  • Age related macular degeneration 52 tests
  • Age related macular degeneration 61 test
  • Age related macular degeneration 71 test
  • Agenesis of corpus callosum, cardiac, ocular, and genital syndrome2 tests
  • Agenesis of the corpus callosum with peripheral neuropathy2 tests
  • Agnathia-otocephaly complex2 tests
  • AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome3 tests
  • Aicardi-Goutieres syndrome 14 tests
  • Aicardi-Goutieres syndrome 23 tests
  • Aicardi-Goutieres syndrome 33 tests
  • Aicardi-Goutieres syndrome 43 tests
  • Aicardi-Goutieres syndrome 53 tests
  • Aicardi-Goutieres syndrome 62 tests
  • Aicardi-Goutieres syndrome 74 tests
  • Al-Gazali syndrome1 test
  • Alacrima, achalasia, and intellectual disability syndrome1 test
  • Alagille syndrome due to a JAG1 point mutation12 tests
  • Alagille syndrome due to a NOTCH2 point mutation11 tests
  • Alazami-Yuan syndrome1 test
  • ALDH18A1-related de Barsy syndrome2 tests
  • Aldosterone-producing adenoma with seizures and neurological abnormalities3 tests
  • Alexander disease4 tests
  • ALG1-congenital disorder of glycosylation2 tests
  • ALG11-congenital disorder of glycosylation1 test
  • ALG12-congenital disorder of glycosylation5 tests
  • ALG2-congenital disorder of glycosylation5 tests
  • ALG3-congenital disorder of glycosylation3 tests
  • ALG6-congenital disorder of glycosylation 1C3 tests
  • ALG8 congenital disorder of glycosylation4 tests
  • ALG9 congenital disorder of glycosylation2 tests
  • Alkaptonuria1 test
  • Alkuraya-Kucinskas syndrome4 tests
  • Allan-Herndon-Dudley syndrome6 tests
  • alpha Thalassemia5 tests
  • Alpha thalassemia-X-linked intellectual disability syndrome12 tests
  • alpha, alpha-Trehalase deficiency1 test
  • Alpha-1-antitrypsin deficiency2 tests
  • Alpha-2-plasmin inhibitor deficiency3 tests
  • Alpha-methylacyl-CoA racemase deficiency4 tests
  • Alpha-N-acetylgalactosaminidase deficiency type 11 test
  • Alpha-N-acetylgalactosaminidase deficiency type 21 test
  • Alport syndrome4 tests
  • Alstrom syndrome7 tests
  • Alternating hemiplegia of childhood 12 tests
  • Alternating hemiplegia of childhood 26 tests
  • Alveolar capillary dysplasia with pulmonary venous misalignment4 tests
  • Alveolar rhabdomyosarcoma3 tests
  • Alzheimer disease6 tests
  • Alzheimer disease 35 tests
  • Alzheimer disease 46 tests
  • Amaurosis-hypertrichosis syndrome3 tests
  • Amelocerebrohypohidrotic syndrome3 tests
  • Amelogenesis imperfecta - hypoplastic autosomal dominant - local2 tests
  • Amelogenesis imperfecta hypomaturation type 2A22 tests
  • Amelogenesis imperfecta hypomaturation type 2A32 tests
  • Amelogenesis imperfecta hypomaturation type 2A42 tests
  • Amelogenesis imperfecta hypomaturation type 2A51 test
  • Amelogenesis imperfecta type 1A2 tests
  • Amelogenesis imperfecta type 1C2 tests
  • Amelogenesis imperfecta type 1E3 tests
  • Amelogenesis imperfecta type 1G3 tests
  • Amelogenesis imperfecta type 1H1 test
  • Amelogenesis imperfecta type 2A12 tests
  • Amelogenesis imperfecta, hypocalcification type2 tests
  • Amelogenesis imperfecta, hypomaturation type, IIa61 test
  • Aminoacylase 1 deficiency2 tests
  • Aminoglycoside-induced deafness2 tests
  • Amish lethal microcephaly1 test
  • Amyloidogenic transthyretin amyloidosis8 tests
  • Amyotrophic lateral sclerosis type 13 tests
  • Amyotrophic lateral sclerosis type 105 tests
  • Amyotrophic lateral sclerosis type 115 tests
  • Amyotrophic lateral sclerosis type 124 tests
  • Amyotrophic lateral sclerosis type 154 tests
  • Amyotrophic lateral sclerosis type 161 test
  • Amyotrophic lateral sclerosis type 183 tests
  • Amyotrophic lateral sclerosis type 192 tests
  • Amyotrophic lateral sclerosis type 2, juvenile3 tests
  • Amyotrophic lateral sclerosis type 204 tests
  • Amyotrophic lateral sclerosis type 215 tests
  • Amyotrophic lateral sclerosis type 222 tests
  • Amyotrophic lateral sclerosis type 233 tests
  • Amyotrophic lateral sclerosis type 44 tests
  • Amyotrophic lateral sclerosis type 64 tests
  • Amyotrophic lateral sclerosis type 83 tests
  • Amyotrophic lateral sclerosis type 93 tests
  • Amyotrophic lateral sclerosis, susceptibility to, 244 tests
  • Amyotrophic lateral sclerosis, susceptibility to, 252 tests
  • Anauxetic dysplasia 12 tests
  • Andersen Tawil syndrome8 tests
  • Androgen resistance syndrome7 tests
  • Anemia, nonspherocytic hemolytic, due to G6PD deficiency4 tests
  • Aneurysm-osteoarthritis syndrome10 tests
  • Angelman syndrome7 tests
  • Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome1 test
  • Aniridia 18 tests
  • Aniridia 26 tests
  • ANKRD1-related dilated cardiomyopathy1 test
  • Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome8 tests
  • Annular epidermolytic ichthyosis4 tests
  • Anophthalmia/microphthalmia-esophageal atresia syndrome14 tests
  • Anterior segment dysgenesis4 tests
  • Anterior segment dysgenesis 16 tests
  • Anterior segment dysgenesis 36 tests
  • Anterior segment dysgenesis 49 tests
  • Anterior segment dysgenesis 61 test
  • Anterior segment dysgenesis 76 tests
  • Anterior segment dysgenesis 82 tests
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis2 tests
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis10 tests
  • Aortic aneurysm, familial thoracic 106 tests
  • Aortic aneurysm, familial thoracic 11, susceptibility to6 tests
  • Aortic aneurysm, familial thoracic 48 tests
  • Aortic aneurysm, familial thoracic 68 tests
  • Aortic aneurysm, familial thoracic 77 tests
  • Aortic aneurysm, familial thoracic 86 tests
  • Aortic aneurysm, familial thoracic 94 tests
  • Aortic valve disease 17 tests
  • Aortic valve disease 22 tests
  • Aortic valve disease 31 test
  • Aplastic anemia4 tests
  • Apparent mineralocorticoid excess1 test
  • Arginase deficiency6 tests
  • Arginine:glycine amidinotransferase deficiency2 tests
  • Argininosuccinate lyase deficiency3 tests
  • Armfield syndrome1 test
  • Aromatase deficiency2 tests
  • Aromatase excess syndrome5 tests
  • Arrhinia with choanal atresia and microphthalmia syndrome1 test
  • Arrhythmogenic cardiomyopathy with woolly hair and keratoderma5 tests
  • Arrhythmogenic right ventricular dysplasia 19 tests
  • Arrhythmogenic right ventricular dysplasia 107 tests
  • Arrhythmogenic right ventricular dysplasia 117 tests
  • Arrhythmogenic right ventricular dysplasia 128 tests
  • Arrhythmogenic right ventricular dysplasia 134 tests
  • Arrhythmogenic right ventricular dysplasia 28 tests
  • Arrhythmogenic right ventricular dysplasia 55 tests
  • Arrhythmogenic right ventricular dysplasia 88 tests
  • Arrhythmogenic right ventricular dysplasia 96 tests
  • Arrhythmogenic right ventricular dysplasia, familial, 143 tests
  • Arterial calcification of infancy4 tests
  • Arterial calcification, generalized, of infancy, 13 tests
  • Arterial calcification, generalized, of infancy, 27 tests
  • Arterial tortuosity syndrome7 tests
  • Arteriohepatic dysplasia1 test
  • Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect1 test
  • Arthrogryposis multiplex congenita 2, neurogenic type1 test
  • Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum1 test
  • Arthrogryposis, distal, type 1A4 tests
  • Arthrogryposis, distal, type 1B3 tests
  • Arthrogryposis, distal, type 1C1 test
  • Arthrogryposis, distal, type 2B22 tests
  • Arthrogryposis, distal, type 2B32 tests
  • Arthrogryposis, Perthes disease, and upward gaze palsy1 test
  • Arthrogryposis, renal dysfunction, and cholestasis 12 tests
  • Arthrogryposis, renal dysfunction, and cholestasis 22 tests
  • Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome2 tests
  • Arts syndrome3 tests
  • Aspartylglucosaminuria3 tests
  • Asperger syndrome, X-linked, susceptibility to, 12 tests
  • Asperger syndrome, X-linked, susceptibility to, 22 tests
  • Asphyxiating thoracic dystrophy 23 tests
  • Asphyxiating thoracic dystrophy 39 tests
  • Asphyxiating thoracic dystrophy 42 tests
  • Asphyxiating thoracic dystrophy 52 tests
  • Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome1 test
  • Ataxia with oculomotor apraxia type 31 test
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia5 tests
  • Ataxia-pancytopenia syndrome4 tests
  • Ataxia-telangiectasia syndrome15 tests
  • Ataxia-telangiectasia-like disorder7 tests
  • Ataxia-telangiectasia-like disorder 11 test
  • Atelosteogenesis type I2 tests
  • Atelosteogenesis type II6 tests
  • Atelosteogenesis type III2 tests
  • Atrial conduction disease5 tests
  • Atrial fibrillation, familial, 106 tests
  • Atrial fibrillation, familial, 114 tests
  • Atrial fibrillation, familial, 127 tests
  • Atrial fibrillation, familial, 132 tests
  • Atrial fibrillation, familial, 145 tests
  • Atrial fibrillation, familial, 153 tests
  • Atrial fibrillation, familial, 184 tests
  • Atrial fibrillation, familial, 36 tests
  • Atrial fibrillation, familial, 44 tests
  • Atrial fibrillation, familial, 65 tests
  • Atrial fibrillation, familial, 76 tests
  • Atrial fibrillation, familial, 96 tests
  • Atrial septal defect 27 tests
  • Atrial septal defect 35 tests
  • Atrial septal defect 44 tests
  • Atrial septal defect 55 tests
  • Atrial septal defect 61 test
  • Atrial septal defect 76 tests
  • Atrial septal defect 81 test
  • Atrial septal defect 94 tests
  • Atrial standstill 21 test
  • Atrioventricular septal defect 35 tests
  • Atrioventricular septal defect 47 tests
  • Atrioventricular septal defect 54 tests
  • Atrioventricular septal defect, susceptibility to, 22 tests
  • Atrophia bulborum hereditaria7 tests
  • Atypical Gaucher disease due to saposin C deficiency1 test
  • Atypical glycine encephalopathy2 tests
  • Auditory neuropathy-optic atrophy syndrome2 tests
  • Aural atresia, congenital1 test
  • Autism2 tests
  • Autism spectrum disorder1 test
  • Autism spectrum disorder due to AUTS2 deficiency2 tests
  • Autism, susceptibility to, 151 test
  • Autism, susceptibility to, 171 test
  • Autism, susceptibility to, 184 tests
  • Autism, susceptibility to, 201 test
  • Autism, susceptibility to, 51 test
  • Autism, susceptibility to, X-linked 12 tests
  • Autism, susceptibility to, X-linked 23 tests
  • Autism, susceptibility to, X-linked 34 tests
  • Autism, susceptibility to, X-linked 42 tests
  • Autism, susceptibility to, X-linked 51 test
  • Autoimmune disease, multisystem, infantile-onset, 21 test
  • Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome3 tests
  • Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency3 tests
  • Autoimmune lymphoproliferative syndrome type 14 tests
  • Autoimmune lymphoproliferative syndrome type 1, autosomal recessive1 test
  • Autoimmune lymphoproliferative syndrome type 2A2 tests
  • Autoimmune lymphoproliferative syndrome type 2B2 tests
  • Autoimmune lymphoproliferative syndrome type 47 tests
  • Autoimmune lymphoproliferative syndrome, type 1b1 test
  • Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD3 tests
  • Autoinflammation with episodic fever and lymphadenopathy1 test
  • Autoinflammation, immune dysregulation, and eosinophilia1 test
  • Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation2 tests
  • Autoinflammatory syndrome, familial, Behcet-like2 tests
  • Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency1 test
  • Autosomal dominant Alport syndrome4 tests
  • Autosomal dominant aplasia and myelodysplasia5 tests
  • Autosomal dominant auditory neuropathy 11 test
  • Autosomal dominant centronuclear myopathy3 tests
  • Autosomal dominant Charcot-Marie-Tooth disease type 2W1 test
  • Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures5 tests
  • Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures3 tests
  • Autosomal dominant congenital benign spinal muscular atrophy2 tests
  • Autosomal dominant distal renal tubular acidosis4 tests
  • Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome6 tests
  • Autosomal dominant hypocalcemia 14 tests
  • Autosomal dominant hypocalcemia 22 tests
  • Autosomal dominant hypophosphatemic rickets3 tests
  • Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome3 tests
  • Autosomal dominant Kenny-Caffey syndrome4 tests
  • Autosomal dominant keratitis4 tests
  • Autosomal dominant keratitis-ichthyosis-hearing loss syndrome3 tests
  • Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)4 tests
  • Autosomal dominant limb-girdle muscular dystrophy type 1F3 tests
  • Autosomal dominant limb-girdle muscular dystrophy type 1G3 tests
  • Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency1 test
  • Autosomal dominant mitochondrial myopathy with exercise intolerance1 test
  • Autosomal dominant nocturnal frontal lobe epilepsy 11 test
  • Autosomal dominant nocturnal frontal lobe epilepsy 31 test
  • Autosomal dominant nocturnal frontal lobe epilepsy 41 test
  • Autosomal dominant nocturnal frontal lobe epilepsy 51 test
  • Autosomal dominant nonsyndromic hearing loss 12 tests
  • Autosomal dominant nonsyndromic hearing loss 103 tests
  • Autosomal dominant nonsyndromic hearing loss 111 test
  • Autosomal dominant nonsyndromic hearing loss 122 tests
  • Autosomal dominant nonsyndromic hearing loss 135 tests
  • Autosomal dominant nonsyndromic hearing loss 152 tests
  • Autosomal dominant nonsyndromic hearing loss 173 tests
  • Autosomal dominant nonsyndromic hearing loss 203 tests
  • Autosomal dominant nonsyndromic hearing loss 224 tests
  • Autosomal dominant nonsyndromic hearing loss 231 test
  • Autosomal dominant nonsyndromic hearing loss 252 tests
  • Autosomal dominant nonsyndromic hearing loss 271 test
  • Autosomal dominant nonsyndromic hearing loss 282 tests
  • Autosomal dominant nonsyndromic hearing loss 2A2 tests
  • Autosomal dominant nonsyndromic hearing loss 2B2 tests
  • Autosomal dominant nonsyndromic hearing loss 362 tests
  • Autosomal dominant nonsyndromic hearing loss 3A3 tests
  • Autosomal dominant nonsyndromic hearing loss 3B2 tests
  • Autosomal dominant nonsyndromic hearing loss 402 tests
  • Autosomal dominant nonsyndromic hearing loss 411 test
  • Autosomal dominant nonsyndromic hearing loss 442 tests
  • Autosomal dominant nonsyndromic hearing loss 4A3 tests
  • Autosomal dominant nonsyndromic hearing loss 4B2 tests
  • Autosomal dominant nonsyndromic hearing loss 51 test
  • Autosomal dominant nonsyndromic hearing loss 501 test
  • Autosomal dominant nonsyndromic hearing loss 511 test
  • Autosomal dominant nonsyndromic hearing loss 561 test
  • Autosomal dominant nonsyndromic hearing loss 65 tests
  • Autosomal dominant nonsyndromic hearing loss 642 tests
  • Autosomal dominant nonsyndromic hearing loss 654 tests
  • Autosomal dominant nonsyndromic hearing loss 661 test
  • Autosomal dominant nonsyndromic hearing loss 671 test
  • Autosomal dominant nonsyndromic hearing loss 681 test
  • Autosomal dominant nonsyndromic hearing loss 692 tests
  • Autosomal dominant nonsyndromic hearing loss 701 test
  • Autosomal dominant nonsyndromic hearing loss 92 tests
  • Autosomal dominant Opitz G/BBB syndrome7 tests
  • Autosomal dominant optic atrophy classic form8 tests
  • Autosomal dominant osteopetrosis 16 tests
  • Autosomal dominant osteopetrosis 22 tests
  • Autosomal dominant palmoplantar keratoderma and congenital alopecia3 tests
  • Autosomal dominant Parkinson disease 13 tests
  • Autosomal dominant Parkinson disease 43 tests
  • Autosomal dominant Parkinson disease 83 tests
  • Autosomal dominant polycystic kidney disease7 tests
  • Autosomal dominant pseudohypoaldosteronism type 12 tests
  • Autosomal dominant Robinow syndrome 14 tests
  • Autosomal dominant Robinow syndrome 21 test
  • Autosomal dominant Robinow syndrome 31 test
  • Autosomal dominant sensory ataxia 11 test
  • Autosomal dominant striatal neurodegeneration type 11 test
  • Autosomal dominant vitreoretinochoroidopathy6 tests
  • Autosomal recessive agammaglobulinemia 12 tests
  • Autosomal recessive Alport syndrome5 tests
  • Autosomal recessive amelia1 test
  • Autosomal recessive ataxia due to ubiquinone deficiency3 tests
  • Autosomal recessive ataxia, Beauce type1 test
  • Autosomal recessive axonal neuropathy with neuromyotonia3 tests
  • Autosomal recessive bestrophinopathy7 tests
  • Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome1 test
  • Autosomal recessive complex spastic paraplegia type 9B6 tests
  • Autosomal recessive congenital ichthyosis 13 tests
  • Autosomal recessive congenital ichthyosis 103 tests
  • Autosomal recessive congenital ichthyosis 112 tests
  • Autosomal recessive congenital ichthyosis 23 tests
  • Autosomal recessive congenital ichthyosis 33 tests
  • Autosomal recessive congenital ichthyosis 4A5 tests
  • Autosomal recessive congenital ichthyosis 4B4 tests
  • Autosomal recessive congenital ichthyosis 53 tests
  • Autosomal recessive congenital ichthyosis 63 tests
  • Autosomal recessive congenital ichthyosis 82 tests
  • Autosomal recessive congenital ichthyosis 92 tests
  • Autosomal recessive cutis laxa type 2B4 tests
  • Autosomal recessive cutis laxa type 2C2 tests
  • Autosomal recessive cutis laxa type 2D2 tests
  • Autosomal recessive distal renal tubular acidosis3 tests
  • Autosomal recessive distal spinal muscular atrophy 12 tests
  • Autosomal recessive DOPA responsive dystonia4 tests
  • Autosomal recessive early-onset Parkinson disease 232 tests
  • Autosomal recessive early-onset Parkinson disease 63 tests
  • Autosomal recessive early-onset Parkinson disease 73 tests
  • Autosomal recessive hypophosphatemic bone disease5 tests
  • Autosomal recessive juvenile Parkinson disease 23 tests
  • Autosomal recessive Kenny-Caffey syndrome3 tests
  • Autosomal recessive keratitis-ichthyosis-deafness syndrome2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2A3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2B4 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2C5 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2D4 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2E3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2F4 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2G6 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2I7 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2J4 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2K3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2L3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2M5 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2N2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2O4 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2P5 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2Q6 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2T7 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2U1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2W3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2X2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2Y2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type R183 tests
  • Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency1 test
  • Autosomal recessive multiple pterygium syndrome4 tests
  • Autosomal recessive nonsyndromic hearing loss 1011 test
  • Autosomal recessive nonsyndromic hearing loss 1021 test
  • Autosomal recessive nonsyndromic hearing loss 1031 test
  • Autosomal recessive nonsyndromic hearing loss 1041 test
  • Autosomal recessive nonsyndromic hearing loss 121 test
  • Autosomal recessive nonsyndromic hearing loss 152 tests
  • Autosomal recessive nonsyndromic hearing loss 163 tests
  • Autosomal recessive nonsyndromic hearing loss 18A1 test
  • Autosomal recessive nonsyndromic hearing loss 18B1 test
  • Autosomal recessive nonsyndromic hearing loss 1A5 tests
  • Autosomal recessive nonsyndromic hearing loss 1B2 tests
  • Autosomal recessive nonsyndromic hearing loss 21 test
  • Autosomal recessive nonsyndromic hearing loss 212 tests
  • Autosomal recessive nonsyndromic hearing loss 222 tests
  • Autosomal recessive nonsyndromic hearing loss 232 tests
  • Autosomal recessive nonsyndromic hearing loss 242 tests
  • Autosomal recessive nonsyndromic hearing loss 252 tests
  • Autosomal recessive nonsyndromic hearing loss 282 tests
  • Autosomal recessive nonsyndromic hearing loss 292 tests
  • Autosomal recessive nonsyndromic hearing loss 32 tests
  • Autosomal recessive nonsyndromic hearing loss 302 tests
  • Autosomal recessive nonsyndromic hearing loss 311 test
  • Autosomal recessive nonsyndromic hearing loss 321 test
  • Autosomal recessive nonsyndromic hearing loss 352 tests
  • Autosomal recessive nonsyndromic hearing loss 361 test
  • Autosomal recessive nonsyndromic hearing loss 372 tests
  • Autosomal recessive nonsyndromic hearing loss 392 tests
  • Autosomal recessive nonsyndromic hearing loss 45 tests
  • Autosomal recessive nonsyndromic hearing loss 422 tests
  • Autosomal recessive nonsyndromic hearing loss 441 test
  • Autosomal recessive nonsyndromic hearing loss 482 tests
  • Autosomal recessive nonsyndromic hearing loss 492 tests
  • Autosomal recessive nonsyndromic hearing loss 534 tests
  • Autosomal recessive nonsyndromic hearing loss 592 tests
  • Autosomal recessive nonsyndromic hearing loss 62 tests
  • Autosomal recessive nonsyndromic hearing loss 612 tests
  • Autosomal recessive nonsyndromic hearing loss 632 tests
  • Autosomal recessive nonsyndromic hearing loss 662 tests
  • Autosomal recessive nonsyndromic hearing loss 673 tests
  • Autosomal recessive nonsyndromic hearing loss 681 test
  • Autosomal recessive nonsyndromic hearing loss 72 tests
  • Autosomal recessive nonsyndromic hearing loss 702 tests
  • Autosomal recessive nonsyndromic hearing loss 742 tests
  • Autosomal recessive nonsyndromic hearing loss 761 test
  • Autosomal recessive nonsyndromic hearing loss 773 tests
  • Autosomal recessive nonsyndromic hearing loss 791 test
  • Autosomal recessive nonsyndromic hearing loss 82 tests
  • Autosomal recessive nonsyndromic hearing loss 84A1 test
  • Autosomal recessive nonsyndromic hearing loss 84B1 test
  • Autosomal recessive nonsyndromic hearing loss 864 tests
  • Autosomal recessive nonsyndromic hearing loss 881 test
  • Autosomal recessive nonsyndromic hearing loss 892 tests
  • Autosomal recessive nonsyndromic hearing loss 92 tests
  • Autosomal recessive nonsyndromic hearing loss 912 tests
  • Autosomal recessive nonsyndromic hearing loss 931 test
  • Autosomal recessive nonsyndromic hearing loss 971 test
  • Autosomal recessive nonsyndromic hearing loss 981 test
  • Autosomal recessive omodysplasia1 test
  • Autosomal recessive optic atrophy, OPA7 type3 tests
  • Autosomal recessive osteopetrosis 13 tests
  • Autosomal recessive osteopetrosis 22 tests
  • Autosomal recessive osteopetrosis 42 tests
  • Autosomal recessive osteopetrosis 52 tests
  • Autosomal recessive osteopetrosis 72 tests
  • Autosomal recessive osteopetrosis 82 tests
  • Autosomal recessive Parkinson disease 143 tests
  • Autosomal recessive polycystic kidney disease6 tests
  • Autosomal recessive proximal renal tubular acidosis3 tests
  • Autosomal recessive pseudohypoaldosteronism type 14 tests
  • Autosomal recessive Robinow syndrome8 tests
  • Autosomal recessive severe congenital neutropenia due to CSF3R deficiency2 tests
  • Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency4 tests
  • Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency2 tests
  • Autosomal recessive spastic paraplegia type 764 tests
  • Autosomal recessive spastic paraplegia type 784 tests
  • Autosomal recessive spinocerebellar ataxia 101 test
  • Autosomal recessive spinocerebellar ataxia 123 tests
  • Autosomal recessive spinocerebellar ataxia 141 test
  • Autosomal recessive spinocerebellar ataxia 71 test
  • Avascular necrosis of femoral head, primary, 110 tests
  • Avellino corneal dystrophy2 tests
  • Axenfeld-Rieger syndrome1 test
  • Axenfeld-Rieger syndrome type 111 tests
  • Axenfeld-Rieger syndrome type 36 tests
  • Axial spondylometaphyseal dysplasia3 tests
  • Ayme-Gripp syndrome5 tests
  • Azorean disease1 test
  • B4GALT1-congenital disorder of glycosylation1 test
  • Bailey-Bloch congenital myopathy4 tests
  • Baller-Gerold syndrome6 tests
  • Bamforth-Lazarus syndrome3 tests
  • Band heterotopia of brain1 test
  • Bannayan-Riley-Ruvalcaba syndrome10 tests
  • BAP1-related tumor predisposition syndrome5 tests
  • Baraitser-Winter syndrome1 test
  • Baraitser-Winter syndrome 17 tests
  • Baraitser-winter syndrome 25 tests
  • Barber-Say syndrome3 tests
  • Bardet-Biedl syndrome15 tests
  • Bardet-Biedl syndrome 15 tests
  • Bardet-Biedl syndrome 109 tests
  • Bardet-Biedl syndrome 117 tests
  • Bardet-Biedl syndrome 129 tests
  • Bardet-Biedl syndrome 138 tests
  • Bardet-Biedl syndrome 146 tests
  • Bardet-Biedl syndrome 155 tests
  • Bardet-Biedl syndrome 164 tests
  • Bardet-Biedl syndrome 175 tests
  • Bardet-Biedl syndrome 185 tests
  • Bardet-Biedl syndrome 196 tests
  • Bardet-Biedl syndrome 29 tests
  • Bardet-Biedl syndrome 206 tests
  • Bardet-biedl syndrome 214 tests
  • Bardet-Biedl syndrome 221 test
  • Bardet-Biedl syndrome 34 tests
  • Bardet-Biedl syndrome 49 tests
  • Bardet-Biedl syndrome 59 tests
  • Bardet-Biedl syndrome 63 tests
  • Bardet-Biedl syndrome 79 tests
  • Bardet-Biedl syndrome 88 tests
  • Bardet-Biedl syndrome 99 tests
  • Bartsocas-Papas syndrome7 tests
  • Bartter disease type 13 tests
  • Bartter disease type 23 tests
  • Bartter disease type 4a4 tests
  • Basal cell carcinoma, susceptibility to, 14 tests
  • Basal cell carcinoma, susceptibility to, 75 tests
  • Basal ganglia calcification, idiopathic, 44 tests
  • Basal ganglia calcification, idiopathic, 53 tests
  • Basal ganglia calcification, idiopathic, 62 tests
  • Basal ganglia calcification, idiopathic, 7, autosomal recessive1 test
  • Basal laminar drusen2 tests
  • Basan syndrome1 test
  • Beare-Stevenson cutis gyrata syndrome6 tests
  • Becker muscular dystrophy4 tests
  • Beckwith-Wiedemann syndrome12 tests
  • Benign concentric annular macular dystrophy2 tests
  • Benign familial hematuria2 tests
  • Benign hereditary chorea2 tests
  • Benign recurrent intrahepatic cholestasis type 13 tests
  • Benign recurrent intrahepatic cholestasis type 23 tests
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy9 tests
  • BENTA disease1 test
  • Bernard Soulier syndrome8 tests
  • Bernard-Soulier syndrome, type A2, autosomal dominant4 tests
  • beta Thalassemia2 tests
  • Beta-D-mannosidosis2 tests
  • Beta-hydroxyisobutyryl-CoA deacylase deficiency4 tests
  • Beta-thalassemia-X-linked thrombocytopenia syndrome3 tests
  • Bethlem myopathy 18 tests
  • Bethlem myopathy 27 tests
  • Bietti crystalline corneoretinal dystrophy3 tests
  • Bifunctional peroxisomal enzyme deficiency5 tests
  • Bilateral frontoparietal polymicrogyria4 tests
  • Bilateral microtia-deafness-cleft palate syndrome1 test
  • Bilateral parasagittal parieto-occipital polymicrogyria3 tests
  • Bile acid malabsorption, primary2 tests
  • Bilirubin, serum level of, quantitative trait locus 12 tests
  • Biotin-responsive basal ganglia disease6 tests
  • Biotinidase deficiency3 tests
  • Blau syndrome3 tests
  • Bleeding diathesis due to thromboxane synthesis deficiency3 tests
  • Bleeding disorder, platelet-type, 211 test
  • Bleeding disorder, platelet-type, 222 tests
  • Blepharocheilodontic syndrome 15 tests
  • Blepharocheilodontic syndrome 21 test
  • Blepharophimosis - intellectual disability syndrome, MKB type9 tests
  • Blepharophimosis - intellectual disability syndrome, SBBYS type3 tests
  • Blepharophimosis, ptosis, and epicanthus inversus syndrome6 tests
  • BLOOD GROUP--LUTHERAN INHIBITOR2 tests
  • BLOOD GROUP--OK1 test
  • Bloom syndrome6 tests
  • BNAR syndrome4 tests
  • Body mass index quantitative trait locus 181 test
  • BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 191 test
  • Body mass index quantitative trait locus 41 test
  • Body mass index quantitative trait locus 91 test
  • Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency4 tests
  • Bohring-Opitz syndrome4 tests
  • Bone fragility with contractures, arterial rupture, and deafness4 tests
  • Bone marrow failure syndrome 33 tests
  • Bone marrow failure syndrome 41 test
  • Bone marrow failure syndrome 53 tests
  • Bone mineral density quantitative trait locus 12 tests
  • Bone mineral density quantitative trait locus 185 tests
  • Bone osteosarcoma2 tests
  • Boomerang dysplasia2 tests
  • Borjeson-Forssman-Lehmann syndrome7 tests
  • Bosch-Boonstra-Schaaf optic atrophy syndrome3 tests
  • Bothnia retinal dystrophy5 tests
  • Brachydactyly type A14 tests
  • Brachydactyly type A1C3 tests
  • Brachydactyly type A1D2 tests
  • Brachydactyly type A27 tests
  • Brachydactyly type B15 tests
  • Brachydactyly type B26 tests
  • Brachydactyly type C5 tests
  • Brachydactyly type D6 tests
  • Brachydactyly type E16 tests
  • Brachydactyly type E21 test
  • Brachydactyly-arterial hypertension syndrome4 tests
  • Brachydactyly-elbow wrist dysplasia syndrome3 tests
  • Brachydactyly-syndactyly syndrome6 tests
  • Brachyolmia-amelogenesis imperfecta syndrome5 tests
  • Brachyrachia (short spine dysplasia)1 test
  • Bradyopsia3 tests
  • Brain abnormalities, neurodegeneration, and dysosteosclerosis1 test
  • Brain small vessel disease 1 with or without ocular anomalies12 tests
  • Brain small vessel disease 33 tests
  • Brain-lung-thyroid syndrome5 tests
  • Branched-chain keto acid dehydrogenase kinase deficiency2 tests
  • Branchiooculofacial syndrome5 tests
  • Branchiootic syndrome 16 tests
  • Branchiootic syndrome 34 tests
  • Branchiootorenal syndrome 15 tests
  • Branchiootorenal syndrome 24 tests
  • Breast-ovarian cancer, familial, susceptibility to, 113 tests
  • Breast-ovarian cancer, familial, susceptibility to, 217 tests
  • Breast-ovarian cancer, familial, susceptibility to, 38 tests
  • Breast-ovarian cancer, familial, susceptibility to, 410 tests
  • Brittle cornea syndrome 15 tests
  • Brittle cornea syndrome 26 tests
  • Brody myopathy2 tests
  • Bronchiectasis with or without elevated sweat chloride 13 tests
  • Brooke-Spiegler syndrome1 test
  • Brown-Vialetto-van Laere syndrome 14 tests
  • Brown-Vialetto-van Laere syndrome 24 tests
  • Bruck syndrome 25 tests
  • Brugada syndrome2 tests
  • Brugada syndrome 17 tests
  • Brugada syndrome 25 tests
  • Brugada syndrome 35 tests
  • Brugada syndrome 46 tests
  • Brugada syndrome 53 tests
  • Brugada syndrome 65 tests
  • Brugada syndrome 75 tests
  • Brugada syndrome 86 tests
  • Brugada syndrome 95 tests
  • Brunner syndrome3 tests
  • Bryant-Li-Bhoj neurodevelopmental syndrome 21 test
  • Budd-Chiari syndrome2 tests
  • Bullous ichthyosiform erythroderma3 tests
  • C1 inhibitor deficiency1 test
  • CADDS1 test
  • Café-au-lait macules with pulmonary stenosis9 tests
  • Calvarial doughnut lesions-bone fragility syndrome1 test
  • Camptodactyly-tall stature-scoliosis-hearing loss syndrome12 tests
  • Camptomelic dysplasia12 tests
  • Camptosynpolydactyly, complex4 tests
  • Cancer of cervix4 tests
  • Capillary infantile hemangioma1 test
  • Capillary malformation-arteriovenous malformation 13 tests
  • Capillary malformation-arteriovenous malformation 22 tests
  • CARASIL syndrome6 tests
  • Carcinoid tumor of intestine4 tests
  • Carcinoma of cervix2 tests
  • Carcinoma of colon5 tests
  • Carcinoma of pancreas9 tests
  • Cardiac anomalies - developmental delay - facial dysmorphism syndrome4 tests
  • Cardiac arrhythmia, ankyrin-B-related6 tests
  • Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies5 tests
  • Cardiac valvular dysplasia, X-linked12 tests
  • Cardiac, facial, and digital anomalies with developmental delay1 test
  • Cardiac-urogenital syndrome3 tests
  • Cardio-facio-cutaneous syndrome2 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 17 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 25 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 33 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 43 tests
  • Cardiofaciocutaneous syndrome 16 tests
  • Cardiofaciocutaneous syndrome 211 tests
  • Cardiofaciocutaneous syndrome 36 tests
  • Cardiofaciocutaneous syndrome 46 tests
  • Cardiomyopathy1 test
  • Cardiomyopathy, dilated, 2c3 tests
  • Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis1 test
  • Cardiomyopathy, familial hypertrophic 274 tests
  • Cardiomyopathy, familial hypertrophic, 283 tests
  • Cardiomyopathy, familial restrictive, 13 tests
  • Cardiomyopathy, familial restrictive, 32 tests
  • Cardiomyopathy-hypotonia-lactic acidosis syndrome3 tests
  • Carney complex - trismus - pseudocamptodactyly syndrome2 tests
  • Carney complex, type 15 tests
  • Carney-Stratakis syndrome8 tests
  • Carnitine acylcarnitine translocase deficiency7 tests
  • Carnitine palmitoyl transferase 1A deficiency5 tests
  • Carnitine palmitoyl transferase II deficiency, myopathic form6 tests
  • Carnitine palmitoyl transferase II deficiency, neonatal form5 tests
  • Carnitine palmitoyl transferase II deficiency, severe infantile form6 tests
  • Carpal tunnel syndrome 11 test
  • Carpenter syndrome1 test
  • Cataract2 tests
  • Cataract 1 multiple types5 tests
  • Cataract 10 multiple types4 tests
  • Cataract 11 multiple types6 tests
  • Cataract 12 multiple types3 tests
  • Cataract 13 with adult I phenotype3 tests
  • Cataract 14 multiple types4 tests
  • Cataract 15 multiple types4 tests
  • Cataract 16 multiple types3 tests
  • Cataract 17 multiple types4 tests
  • Cataract 183 tests
  • Cataract 19 multiple types4 tests
  • Cataract 20 multiple types3 tests
  • Cataract 21 multiple types6 tests
  • Cataract 22 multiple types4 tests
  • Cataract 235 tests
  • Cataract 3 multiple types4 tests
  • Cataract 303 tests
  • Cataract 31 multiple types4 tests
  • Cataract 334 tests
  • Cataract 34 multiple types5 tests
  • Cataract 363 tests
  • Cataract 387 tests
  • Cataract 39 multiple types4 tests
  • Cataract 4 multiple types2 tests
  • Cataract 407 tests
  • Cataract 416 tests
  • Cataract 421 test
  • Cataract 431 test
  • Cataract 441 test
  • Cataract 452 tests
  • Cataract 46 juvenile-onset1 test
  • Cataract 5 multiple types3 tests
  • Cataract 6 multiple types4 tests
  • Cataract 9 multiple types4 tests
  • Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome2 tests
  • Catecholaminergic polymorphic ventricular tachycardia3 tests
  • Catecholaminergic polymorphic ventricular tachycardia 14 tests
  • Catecholaminergic polymorphic ventricular tachycardia 25 tests
  • Catecholaminergic polymorphic ventricular tachycardia 34 tests
  • Catecholaminergic polymorphic ventricular tachycardia 45 tests
  • Catecholaminergic polymorphic ventricular tachycardia 55 tests
  • Catel-Manzke syndrome1 test
  • Caudal duplication1 test
  • CBL-related disorder8 tests
  • CCDC115-CDG1 test
  • CEDNIK syndrome1 test
  • Celiac disease, susceptibility to, 32 tests
  • Cenani-Lenz syndactyly syndrome5 tests
  • Central core myopathy6 tests
  • Central precocious puberty1 test
  • Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency4 tests
  • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 12 tests
  • Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome5 tests
  • Cerebellar ataxia-hypogonadism syndrome2 tests
  • Cerebellar atrophy, developmental delay, and seizures1 test
  • Cerebellar atrophy, visual impairment, and psychomotor retardation;3 tests
  • Cerebellar, ocular, craniofacial, and genital syndrome2 tests
  • Cerebral amyloid angiopathy, APP-related2 tests
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 14 tests
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 25 tests
  • Cerebral arteriovenous malformation6 tests
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy3 tests
  • Cerebral cavernous malformation4 tests
  • Cerebral cavernous malformation 24 tests
  • Cerebral cavernous malformation 33 tests
  • Cerebral folate transport deficiency6 tests
  • Cerebral palsy, spastic quadriplegic, 22 tests
  • Cerebrooculofacioskeletal syndrome 13 tests
  • Cerebrooculofacioskeletal syndrome 23 tests
  • Cerebrooculofacioskeletal syndrome 33 tests
  • Cerebrooculofacioskeletal syndrome 44 tests
  • Cerebroretinal microangiopathy with calcifications and cysts 15 tests
  • Cerebroretinal microangiopathy with calcifications and cysts 22 tests
  • Cernunnos-XLF deficiency1 test
  • Ceroid lipofuscinosis, neuronal, 4 (Kufs type)3 tests
  • Ceroid lipofuscinosis, neuronal, 6A3 tests
  • Channelopathy-associated congenital insensitivity to pain, autosomal recessive3 tests
  • Char syndrome3 tests
  • Charcot-Marie-Tooth disease axonal type 2C7 tests
  • Charcot-Marie-Tooth disease axonal type 2CC2 tests
  • Charcot-Marie-Tooth disease axonal type 2F5 tests
  • Charcot-Marie-Tooth disease axonal type 2K4 tests
  • Charcot-Marie-Tooth disease axonal type 2L6 tests
  • Charcot-Marie-Tooth disease axonal type 2N4 tests
  • Charcot-Marie-Tooth disease axonal type 2O6 tests
  • Charcot-Marie-Tooth disease axonal type 2P3 tests
  • Charcot-Marie-Tooth disease axonal type 2Q4 tests
  • Charcot-Marie-Tooth disease axonal type 2S3 tests
  • Charcot-Marie-Tooth disease axonal type 2T1 test
  • Charcot-Marie-Tooth disease axonal type 2U4 tests
  • Charcot-Marie-Tooth disease axonal type 2V1 test
  • Charcot-Marie-Tooth disease dominant intermediate B5 tests
  • Charcot-Marie-Tooth disease dominant intermediate C4 tests
  • Charcot-Marie-Tooth disease dominant intermediate D4 tests
  • Charcot-Marie-Tooth disease dominant intermediate E5 tests
  • Charcot-Marie-Tooth disease dominant intermediate F5 tests
  • Charcot-Marie-Tooth disease recessive intermediate A4 tests
  • Charcot-Marie-Tooth disease recessive intermediate B7 tests
  • Charcot-Marie-Tooth disease recessive intermediate C4 tests
  • Charcot-Marie-Tooth disease recessive intermediate D6 tests
  • Charcot-Marie-Tooth disease type 1B5 tests
  • Charcot-Marie-Tooth disease type 1C4 tests
  • Charcot-Marie-Tooth disease type 1D2 tests
  • Charcot-Marie-Tooth disease type 1F5 tests
  • Charcot-Marie-Tooth disease type 21 test
  • Charcot-Marie-Tooth disease type 2A11 test
  • Charcot-Marie-Tooth disease type 2A28 tests
  • Charcot-Marie-Tooth disease type 2B5 tests
  • Charcot-Marie-Tooth disease type 2B18 tests
  • Charcot-Marie-Tooth disease type 2B23 tests
  • Charcot-Marie-Tooth disease type 2D6 tests
  • Charcot-Marie-Tooth disease type 2E5 tests
  • Charcot-Marie-Tooth disease type 2I5 tests
  • Charcot-Marie-Tooth disease type 2J5 tests
  • Charcot-Marie-Tooth disease type 2R4 tests
  • Charcot-Marie-Tooth disease type 2Y3 tests
  • Charcot-Marie-Tooth disease type 4A4 tests
  • Charcot-Marie-Tooth disease type 4B15 tests
  • Charcot-Marie-Tooth disease type 4B27 tests
  • Charcot-Marie-Tooth disease type 4B37 tests
  • Charcot-Marie-Tooth disease type 4C5 tests
  • Charcot-Marie-Tooth disease type 4D5 tests
  • Charcot-Marie-Tooth disease type 4F6 tests
  • Charcot-Marie-Tooth disease type 4G1 test
  • Charcot-Marie-Tooth disease type 4H4 tests
  • Charcot-Marie-Tooth disease type 4J9 tests
  • Charcot-Marie-Tooth disease type 4K2 tests
  • Charcot-Marie-Tooth disease X-linked dominant 14 tests
  • Charcot-Marie-Tooth disease X-linked dominant 65 tests
  • Charcot-Marie-Tooth disease X-linked recessive 45 tests
  • Charcot-Marie-Tooth disease X-linked recessive 56 tests
  • Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;2 tests
  • Charcot-Marie-Tooth disease, axonal, type 2EE3 tests
  • Charcot-Marie-Tooth disease, axonal, Type 2HH1 test
  • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive4 tests
  • Charcot-Marie-Tooth disease, type IA4 tests
  • Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome4 tests
  • CHARGE association20 tests
  • Charlevoix-Saguenay spastic ataxia3 tests
  • Chilblain lupus 11 test
  • Child syndrome4 tests
  • Childhood apraxia of speech1 test
  • Childhood encephalopathy due to thiamine pyrophosphokinase deficiency4 tests
  • Childhood hypophosphatasia7 tests
  • Childhood onset GLUT1 deficiency syndrome 25 tests
  • CHIME syndrome2 tests
  • Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome1 test
  • Cholestanol storage disease10 tests
  • Cholestasis, intrahepatic, of pregnancy, 12 tests
  • Cholestasis, intrahepatic, of pregnancy, 32 tests
  • Cholestasis, progressive familial intrahepatic, 43 tests
  • Cholestasis, progressive familial intrahepatic, 52 tests
  • Chondrocalcinosis 21 test
  • Chondrodysplasia Blomstrand type2 tests
  • Chondrodysplasia punctata1 test
  • Chondrodysplasia punctata 2 X-linked dominant7 tests
  • Chondrodysplasia with joint dislocations, gPAPP type2 tests
  • Choroid plexus papilloma8 tests
  • Choroidal dystrophy, central areolar 22 tests
  • Choroidal dystrophy, central areolar, 11 test
  • Choroideremia6 tests
  • Christianson syndrome6 tests
  • Chromosome 17q11.2 deletion syndrome, 1.4Mb1 test
  • Chromosome 1p32-p31 deletion syndrome1 test
  • Chromosome 2p16.3 deletion syndrome2 tests
  • Chromosome 2q32-q33 deletion syndrome2 tests
  • Chronic infantile neurological, cutaneous and articular syndrome3 tests
  • Chronic pancreatitis1 test
  • Chudley-McCullough syndrome4 tests
  • Chuvash polycythemia3 tests
  • Chylomicron retention disease1 test
  • Chédiak-Higashi syndrome10 tests
  • CIDEC-related familial partial lipodystrophy2 tests
  • Ciliary dyskinesia, primary, 36, X-linked4 tests
  • Ciliary dyskinesia, primary, 375 tests
  • Ciliary dyskinesia, primary, 385 tests
  • Ciliary dyskinesia, primary, 394 tests
  • Ciliary dyskinesia, primary, 405 tests
  • Ciliary dyskinesia, primary, 414 tests
  • Ciliary dyskinesia, primary, 423 tests
  • Ciliary dyskinesia, primary, 435 tests
  • Ciliary dyskinesia, primary, 455 tests
  • Ciliary dyskinesia, primary, 463 tests
  • Ciliopathy1 test
  • Citrullinemia type I4 tests
  • Citrullinemia type II6 tests
  • Citrullinemia, type II, adult-onset1 test
  • CK syndrome3 tests
  • CLAPO syndrome3 tests
  • Clark-Baraitser syndrome3 tests
  • Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency2 tests
  • Classic dopamine transporter deficiency syndrome2 tests
  • Classic Hodgkin lymphoma1 test
  • Classic homocystinuria12 tests
  • Classical phenylketonuria1 test
  • Cleft lip/palate-ectodermal dysplasia syndrome3 tests
  • Cleft palate with or without ankyloglossia, X-linked2 tests
  • Cleft palate, proliferative retinopathy, and developmental delay1 test
  • Cleidocranial dysostosis2 tests
  • CLOVES syndrome3 tests
  • Clubfoot2 tests
  • COACH syndrome3 tests
  • COACH syndrome 11 test
  • COACH syndrome 22 tests
  • Coats plus syndrome3 tests
  • Cobalamin C disease6 tests
  • Cobblestone lissencephaly without muscular or ocular involvement2 tests
  • Cockayne syndrome type 15 tests
  • Cockayne syndrome type 23 tests
  • Cocoon syndrome1 test
  • CODAS syndrome3 tests
  • Coenzyme Q10 deficiency5 tests
  • Coenzyme Q10 deficiency, primary, 11 test
  • Coenzyme Q10 deficiency, primary, 35 tests
  • Coffin-Lowry syndrome2 tests
  • Coffin-Siris syndrome1 test
  • Coffin-Siris syndrome 15 tests
  • Coffin-Siris syndrome 101 test
  • Coffin-Siris syndrome 53 tests
  • Coffin-Siris syndrome 61 test
  • Coffin-Siris syndrome 72 tests
  • Coffin-Siris syndrome 82 tests
  • COG1 congenital disorder of glycosylation1 test
  • COG4-congenital disorder of glycosylation2 tests
  • COG5-congenital disorder of glycosylation2 tests
  • COG6-ongenital disorder of glycosylation2 tests
  • COG7 congenital disorder of glycosylation1 test
  • COG8-congenital disorder of glycosylation1 test
  • Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome3 tests
  • Cognitive impairment with or without cerebellar ataxia2 tests
  • Cohen syndrome8 tests
  • Cohen-Gibson syndrome1 test
  • Colchicine resistance1 test
  • Cole-Carpenter syndrome 11 test
  • Cole-Carpenter syndrome 25 tests
  • Collagen 6-related myopathy2 tests
  • Coloboma of optic nerve6 tests
  • Coloboma, ocular, autosomal dominant3 tests
  • Coloboma, ocular, autosomal recessive1 test
  • Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness3 tests
  • Colobomatous microphthalmia-rhizomelic dysplasia syndrome5 tests
  • Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome4 tests
  • Colorectal cancer9 tests
  • Colorectal cancer, hereditary nonpolyposis, type 215 tests
  • Colorectal cancer, hereditary nonpolyposis, type 63 tests
  • Colorectal cancer, hereditary nonpolyposis, type 74 tests
  • Colorectal cancer, susceptibility to, 12 tests
  • Colorectal cancer, susceptibility to, 109 tests
  • Colorectal cancer, susceptibility to, 126 tests
  • Colorectal carcinoma2 tests
  • Combined deficiency of sialidase AND beta galactosidase6 tests
  • Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia1 test
  • Combined immunodeficiency due to CD3gamma deficiency1 test
  • Combined immunodeficiency due to DOCK8 deficiency4 tests
  • Combined immunodeficiency due to GINS1 deficiency1 test
  • Combined immunodeficiency due to LRBA deficiency5 tests
  • Combined immunodeficiency due to MALT1 deficiency1 test
  • Combined immunodeficiency due to partial RAG1 deficiency2 tests
  • Combined immunodeficiency due to STIM1 deficiency4 tests
  • Combined immunodeficiency due to ZAP70 deficiency1 test
  • Combined immunodeficiency with skin granulomas3 tests
  • Combined immunodeficiency, X-linked3 tests
  • Combined malonic and methylmalonic acidemia6 tests
  • Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 11 test
  • Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 21 test
  • Combined oxidative phosphorylation defect type 111 test
  • Combined oxidative phosphorylation defect type 133 tests
  • Combined oxidative phosphorylation defect type 145 tests
  • Combined oxidative phosphorylation defect type 154 tests
  • Combined oxidative phosphorylation defect type 174 tests
  • Combined oxidative phosphorylation defect type 21 test
  • Combined oxidative phosphorylation defect type 201 test
  • Combined oxidative phosphorylation defect type 211 test
  • Combined oxidative phosphorylation defect type 232 tests
  • Combined oxidative phosphorylation defect type 243 tests
  • Combined oxidative phosphorylation defect type 251 test
  • Combined oxidative phosphorylation defect type 262 tests
  • Combined oxidative phosphorylation defect type 271 test
  • Combined oxidative phosphorylation defect type 302 tests
  • Combined oxidative phosphorylation defect type 42 tests
  • Combined oxidative phosphorylation defect type 75 tests
  • Combined oxidative phosphorylation defect type 83 tests
  • Combined oxidative phosphorylation defect type 92 tests
  • Combined oxidative phosphorylation deficiency1 test
  • Combined oxidative phosphorylation deficiency 191 test
  • Combined oxidative phosphorylation deficiency 222 tests
  • Combined oxidative phosphorylation deficiency 281 test
  • Combined oxidative phosphorylation deficiency 321 test
  • Combined oxidative phosphorylation deficiency 332 tests
  • Combined oxidative phosphorylation deficiency 342 tests
  • Combined oxidative phosphorylation deficiency 351 test
  • Combined oxidative phosphorylation deficiency 362 tests
  • Combined oxidative phosphorylation deficiency 372 tests
  • Combined oxidative phosphorylation deficiency 381 test
  • Combined oxidative phosphorylation deficiency 391 test
  • Combined oxidative phosphorylation deficiency 401 test
  • Combined oxidative phosphorylation deficiency 412 tests
  • Combined oxidative phosphorylation deficiency 421 test
  • Combined oxidative phosphorylation deficiency 431 test
  • Combined oxidative phosphorylation deficiency 441 test
  • Combined oxidative phosphorylation deficiency 461 test
  • Combined oxidative phosphorylation deficiency 471 test
  • Common variable agammaglobulinemia2 tests
  • Complete trisomy 21 syndrome2 tests
  • Complex cortical dysplasia with other brain malformations1 test
  • Complex cortical dysplasia with other brain malformations 14 tests
  • Complex cortical dysplasia with other brain malformations 22 tests
  • Complex cortical dysplasia with other brain malformations 33 tests
  • Complex cortical dysplasia with other brain malformations 43 tests
  • Complex cortical dysplasia with other brain malformations 51 test
  • Complex cortical dysplasia with other brain malformations 62 tests
  • Complex cortical dysplasia with other brain malformations 74 tests
  • Complex lethal osteochondrodysplasia5 tests
  • Complex V deficiency1 test
  • Compton-North congenital myopathy4 tests
  • Cone dystrophy 32 tests
  • Cone dystrophy 43 tests
  • Cone dystrophy with supernormal rod response3 tests
  • Cone-rod dystrophy2 tests
  • Cone-rod dystrophy 102 tests
  • Cone-rod dystrophy 112 tests
  • Cone-rod dystrophy 123 tests
  • Cone-rod dystrophy 135 tests
  • Cone-rod dystrophy 154 tests
  • Cone-rod dystrophy 166 tests
  • Cone-rod dystrophy 182 tests
  • Cone-rod dystrophy 191 test
  • Cone-rod dystrophy 24 tests
  • Cone-rod dystrophy 202 tests
  • Cone-rod dystrophy 212 tests
  • Cone-rod dystrophy 33 tests
  • Cone-rod dystrophy 54 tests
  • Cone-rod dystrophy 65 tests
  • Cone-rod dystrophy 72 tests
  • Cone-rod dystrophy 92 tests
  • Cone-rod dystrophy and hearing loss1 test
  • Cone-rod dystrophy and hearing loss 21 test
  • Cone-rod synaptic disorder, congenital nonprogressive5 tests
  • Congenital absence of salivary gland3 tests
  • Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency9 tests
  • Congenital adrenal hypoplasia, X-linked8 tests
  • Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency7 tests
  • Congenital afibrinogenemia5 tests
  • Congenital amegakaryocytic thrombocytopenia5 tests
  • Congenital aneurysm of ascending aorta1 test
  • Congenital anomalies of kidney and urinary tract 14 tests
  • Congenital anomalies of kidney and urinary tract 21 test
  • Congenital anomalies of kidney and urinary tract 31 test
  • Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay3 tests
  • Congenital anomaly of eye1 test
  • Congenital anomaly of kidney and urinary tract2 tests
  • Congenital bilateral aplasia of vas deferens from CFTR mutation7 tests
  • Congenital bile acid synthesis defect 12 tests
  • Congenital bile acid synthesis defect 22 tests
  • Congenital bile acid synthesis defect 33 tests
  • Congenital bile acid synthesis defect 44 tests
  • Congenital bile acid synthesis defect 52 tests
  • Congenital bile acid synthesis defect 61 test
  • Congenital brain dysgenesis due to glutamine synthetase deficiency2 tests
  • Congenital cataract-hearing loss-severe developmental delay syndrome5 tests
  • Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome2 tests
  • Congenital cataracts-facial dysmorphism-neuropathy syndrome7 tests
  • Congenital central hypoventilation14 tests
  • Congenital contractural arachnodactyly9 tests
  • Congenital contractures of the limbs and face, hypotonia, and developmental delay5 tests
  • Congenital defect of folate absorption4 tests
  • Congenital diarrhea 5 with tufting enteropathy5 tests
  • Congenital diarrhea 62 tests
  • Congenital diarrhea 7 with exudative enteropathy1 test
  • Congenital disorder of deglycosylation3 tests
  • Congenital disorder of glycosylation1 test
  • Congenital disorder of glycosylation type 1E6 tests
  • Congenital disorder of glycosylation type Ir1 test
  • Congenital disorder of glycosylation, type ICC1 test
  • Congenital disorder of glycosylation, type IIq1 test
  • Congenital dyserythropoietic anemia type 45 tests
  • Congenital dyserythropoietic anemia type type 1B3 tests
  • Congenital dyserythropoietic anemia, type I5 tests
  • Congenital dyserythropoietic anemia, type II5 tests
  • Congenital fibrosis of extraocular muscles1 test
  • Congenital fibrosis of extraocular muscles type 11 test
  • Congenital generalized lipodystrophy type 13 tests
  • Congenital generalized lipodystrophy type 23 tests
  • Congenital generalized lipodystrophy type 34 tests
  • Congenital generalized lipodystrophy type 45 tests
  • Congenital glucose-galactose malabsorption1 test
  • Congenital heart defects and skeletal malformations syndrome1 test
  • Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1 test
  • Congenital heart defects, multiple types, 21 test
  • Congenital heart defects, multiple types, 43 tests
  • Congenital heart defects, multiple types, 52 tests
  • Congenital heart defects, multiple types, 63 tests
  • Congenital heart defects, multiple types, 71 test
  • CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY1 test
  • Congenital heart disease3 tests
  • Congenital hereditary endothelial dystrophy of cornea2 tests
  • Congenital hyperammonemia, type I5 tests
  • Congenital hypomyelinating neuropathy5 tests
  • Congenital hypothyroidism1 test
  • Congenital hypotonia, epilepsy, developmental delay, and digital anomalies1 test
  • Congenital hypotrichosis with juvenile macular dystrophy1 test
  • Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome1 test
  • Congenital insensitivity to pain-hypohidrosis syndrome2 tests
  • Congenital lactase deficiency1 test
  • Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type6 tests
  • Congenital lipoid adrenal hyperplasia due to STAR deficency6 tests
  • Congenital long QT syndrome2 tests
  • Congenital macrodactylia3 tests
  • Congenital malabsorptive diarrhea 42 tests
  • Congenital microvillous atrophy3 tests
  • Congenital multicore myopathy with external ophthalmoplegia7 tests
  • Congenital muscular dystrophy due to integrin alpha-7 deficiency3 tests
  • Congenital muscular dystrophy due to LMNA mutation6 tests
  • Congenital muscular dystrophy with intellectual disability and severe epilepsy5 tests
  • Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome3 tests
  • Congenital muscular hypertrophy-cerebral syndrome11 tests
  • Congenital myasthenic syndrome 104 tests
  • Congenital myasthenic syndrome 112 tests
  • Congenital myasthenic syndrome 123 tests
  • Congenital myasthenic syndrome 133 tests
  • Congenital myasthenic syndrome 142 tests
  • Congenital myasthenic syndrome 152 tests
  • Congenital myasthenic syndrome 162 tests
  • Congenital myasthenic syndrome 171 test
  • Congenital myasthenic syndrome 182 tests
  • Congenital myasthenic syndrome 193 tests
  • Congenital myasthenic syndrome 1A2 tests
  • Congenital myasthenic syndrome 201 test
  • Congenital myasthenic syndrome 214 tests
  • Congenital myasthenic syndrome 2A2 tests
  • Congenital myasthenic syndrome 2C1 test
  • Congenital myasthenic syndrome 3A2 tests
  • Congenital myasthenic syndrome 3B3 tests
  • Congenital myasthenic syndrome 3C2 tests
  • Congenital myasthenic syndrome 4A2 tests
  • Congenital myasthenic syndrome 4B2 tests
  • Congenital myasthenic syndrome 4C4 tests
  • Congenital myasthenic syndrome 53 tests
  • Congenital myasthenic syndrome 74 tests
  • Congenital myasthenic syndrome 82 tests
  • Congenital myasthenic syndrome 92 tests
  • Congenital myopathy1 test
  • Congenital myopathy with fiber type disproportion6 tests
  • Congenital myopathy with internal nuclei and atypical cores3 tests
  • Congenital myotonia, autosomal dominant form2 tests
  • Congenital myotonia, autosomal recessive form2 tests
  • Congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome5 tests
  • Congenital neutropenia-myelofibrosis-nephromegaly syndrome3 tests
  • Congenital nongoitrous hypothryoidism 62 tests
  • Congenital ocular coloboma3 tests
  • Congenital plasminogen activator inhibitor type 1 deficiency2 tests
  • Congenital pontocerebellar hypoplasia type 12 tests
  • Congenital primary aphakia8 tests
  • Congenital prothrombin deficiency4 tests
  • Congenital reticular ichthyosiform erythroderma1 test
  • Congenital secretory diarrhea, chloride type2 tests
  • Congenital secretory sodium diarrhea 32 tests
  • Congenital secretory sodium diarrhea 81 test
  • Congenital sensory neuropathy with selective loss of small myelinated fibers3 tests
  • Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome2 tests
  • Congenital sodium diarrhea1 test
  • Congenital stationary night blindness1 test
  • Congenital stationary night blindness 1A3 tests
  • Congenital stationary night blindness 1B2 tests
  • Congenital stationary night blindness 1C2 tests
  • Congenital stationary night blindness 1D4 tests
  • Congenital stationary night blindness 1E2 tests
  • Congenital stationary night blindness 1F3 tests
  • Congenital stationary night blindness 1G2 tests
  • Congenital stationary night blindness 1H1 test
  • Congenital stationary night blindness 2A4 tests
  • Congenital stationary night blindness autosomal dominant 14 tests
  • Congenital stationary night blindness autosomal dominant 24 tests
  • Congenital stationary night blindness autosomal dominant 32 tests
  • Congenital stromal corneal dystrophy2 tests
  • Conotruncal heart malformations10 tests
  • Constitutional megaloblastic anemia with severe neurologic disease1 test
  • Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A4 tests
  • Contractures, pterygia, and variable skeletal fusions syndrome 1B1 test
  • Cornea plana 22 tests
  • Corneal dystrophy, Fuchs endothelial, 13 tests
  • Corneal dystrophy, Fuchs endothelial, 34 tests
  • Corneal dystrophy, Fuchs endothelial, 41 test
  • Corneal dystrophy, Fuchs endothelial, 63 tests
  • Corneal dystrophy, Fuchs endothelial, 82 tests
  • Corneal dystrophy, lattice type 3A2 tests
  • Corneal dystrophy, posterior polymorphous, 44 tests
  • Corneal dystrophy-perceptive deafness syndrome1 test
  • Cornelia de Lange syndrome 111 tests
  • Cornelia de Lange syndrome 37 tests
  • Cornelia de Lange syndrome 48 tests
  • Cornelia de Lange syndrome 58 tests
  • Corpus callosum agenesis-abnormal genitalia syndrome6 tests
  • Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome2 tests
  • Cortical dysplasia, complex, with other brain malformations 101 test
  • Cortical dysplasia, complex, with other brain malformations 91 test
  • Cortical dysplasia-focal epilepsy syndrome4 tests
  • Costello syndrome11 tests
  • Cowden syndrome5 tests
  • Cowden syndrome 117 tests
  • Cowden syndrome 31 test
  • Cowden syndrome 56 tests
  • Cowden syndrome 61 test
  • Cowden syndrome 72 tests
  • Coxopodopatellar syndrome3 tests
  • Craniodiaphyseal dysplasia, autosomal dominant2 tests
  • Cranioectodermal dysplasia 14 tests
  • Cranioectodermal dysplasia 26 tests
  • Cranioectodermal dysplasia 32 tests
  • Cranioectodermal dysplasia 42 tests
  • Craniofacial anomalies and anterior segment dysgenesis syndrome3 tests
  • Craniofacial dysplasia - osteopenia syndrome1 test
  • Craniofacial-deafness-hand syndrome5 tests
  • Craniofrontonasal syndrome9 tests
  • Craniolenticulosutural dysplasia1 test
  • Craniometaphyseal dysplasia, autosomal dominant1 test
  • Craniometaphyseal dysplasia, autosomal recessive5 tests
  • Craniosynostosis 22 tests
  • Craniosynostosis 5, susceptibility to2 tests
  • Craniosynostosis and dental anomalies1 test
  • Craniosynostosis syndrome1 test
  • Creatine transporter deficiency2 tests
  • Crigler-Najjar syndrome1 test
  • Crigler-Najjar syndrome type 12 tests
  • Crigler-Najjar syndrome, type II3 tests
  • Cromer blood group system1 test
  • Crouzon syndrome10 tests
  • Crouzon syndrome-acanthosis nigricans syndrome11 tests
  • Cryohydrocytosis1 test
  • Cryptophthalmos syndrome6 tests
  • Cryptorchidism3 tests
  • Curly hair, ankyloblepharon, nail dysplasia syndrome3 tests
  • Currarino triad3 tests
  • Curry-Hall syndrome5 tests
  • Curry-Jones syndrome3 tests
  • Cushing syndrome1 test
  • Cutaneous mastocytosis2 tests
  • Cutaneous porphyria4 tests
  • Cutis laxa with osteodystrophy6 tests
  • Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies5 tests
  • Cutis laxa, autosomal dominant 17 tests
  • Cutis laxa, autosomal dominant 26 tests
  • Cutis laxa, autosomal dominant 35 tests
  • Cutis laxa, autosomal recessive, type 1A7 tests
  • Cutis laxa, autosomal recessive, type 1B8 tests
  • Cutis laxa, X-linked8 tests
  • Cyclical neutropenia4 tests
  • Cystathioninuria1 test
  • Cystic fibrosis9 tests
  • Cystic leukoencephalopathy without megalencephaly1 test
  • Cystinuria5 tests
  • Cytochrome-c oxidase deficiency disease14 tests
  • Czech dysplasia, metatarsal type13 tests
  • D-2-hydroxyglutaric aciduria 15 tests
  • D-2-hydroxyglutaric aciduria 24 tests
  • Dalmatian hypouricemia1 test
  • Danon disease9 tests
  • DDX41-related hematologic malignancy predisposition syndrome5 tests
  • de Barsy syndrome4 tests
  • De Lange syndrome3 tests
  • DE SANCTIS-CACCHIONE SYNDROME1 test
  • Deafness dystonia syndrome5 tests
  • Deafness with labyrinthine aplasia, microtia, and microdontia2 tests
  • Deafness, autosomal dominant 39, with dentinogenesis imperfecta 12 tests
  • Deafness, congenital heart defects, and posterior embryotoxon6 tests
  • Deafness, X-linked 54 tests
  • Deafness-encephaloneuropathy-obesity-valvulopathy syndrome3 tests
  • Deafness-lymphedema-leukemia syndrome5 tests
  • Deficiency of 2-methylbutyryl-CoA dehydrogenase3 tests
  • Deficiency of 3-hydroxyacyl-CoA dehydrogenase8 tests
  • Deficiency of acetyl-CoA acetyltransferase7 tests
  • Deficiency of alpha-mannosidase2 tests
  • Deficiency of aromatic-L-amino-acid decarboxylase3 tests
  • Deficiency of beta-ureidopropionase1 test
  • Deficiency of butyryl-CoA dehydrogenase5 tests
  • Deficiency of butyrylcholinesterase1 test
  • Deficiency of cytochrome-b5 reductase1 test
  • Deficiency of ferroxidase5 tests
  • Deficiency of galactokinase5 tests
  • Deficiency of glycerol kinase3 tests
  • Deficiency of guanidinoacetate methyltransferase4 tests
  • Deficiency of hyaluronoglucosaminidase2 tests
  • Deficiency of hydroxymethylglutaryl-CoA lyase8 tests
  • Deficiency of iodide peroxidase2 tests
  • Deficiency of isobutyryl-CoA dehydrogenase1 test
  • Deficiency of malonyl-CoA decarboxylase8 tests
  • Deficiency of steroid 11-beta-monooxygenase5 tests
  • Deficiency of steroid 17-alpha-monooxygenase7 tests
  • Deficiency of transaldolase3 tests
  • Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase9 tests
  • Dehydrated hereditary stomatocytosis 23 tests
  • Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema5 tests
  • Dejerine-Sottas disease6 tests
  • Dent disease type 17 tests
  • Dent disease type 28 tests
  • Dentatorubral-pallidoluysian atrophy1 test
  • Denticles2 tests
  • Dentin dysplasia type I1 test
  • Dentinogenesis imperfecta type 23 tests
  • Dentinogenesis imperfecta type 33 tests
  • Dermatitis, atopic, 21 test
  • Dermatofibrosarcoma protuberans1 test
  • Dermatopathia pigmentosa reticularis2 tests
  • DeSanto-Shinawi syndrome due to WAC point mutation3 tests
  • Desbuquois dysplasia 14 tests
  • Desbuquois dysplasia 22 tests
  • Desmin-related myofibrillar myopathy5 tests
  • Desmoid disease, hereditary4 tests
  • Desmosterolosis5 tests
  • Developmental and epileptic encephalopathy 944 tests
  • Developmental and epileptic encephalopathy, 15 tests
  • Developmental and epileptic encephalopathy, 116 tests
  • Developmental and epileptic encephalopathy, 122 tests
  • Developmental and epileptic encephalopathy, 135 tests
  • Developmental and epileptic encephalopathy, 142 tests
  • Developmental and epileptic encephalopathy, 152 tests
  • Developmental and epileptic encephalopathy, 166 tests
  • Developmental and epileptic encephalopathy, 173 tests
  • Developmental and epileptic encephalopathy, 183 tests
  • Developmental and epileptic encephalopathy, 192 tests
  • Developmental and epileptic encephalopathy, 26 tests
  • Developmental and epileptic encephalopathy, 231 test
  • Developmental and epileptic encephalopathy, 243 tests
  • Developmental and epileptic encephalopathy, 252 tests
  • Developmental and epileptic encephalopathy, 263 tests
  • Developmental and epileptic encephalopathy, 275 tests
  • Developmental and epileptic encephalopathy, 281 test
  • Developmental and epileptic encephalopathy, 311 test
  • Developmental and epileptic encephalopathy, 323 tests
  • Developmental and epileptic encephalopathy, 331 test
  • Developmental and epileptic encephalopathy, 341 test
  • Developmental and epileptic encephalopathy, 351 test
  • Developmental and epileptic encephalopathy, 364 tests
  • Developmental and epileptic encephalopathy, 371 test
  • Developmental and epileptic encephalopathy, 392 tests
  • Developmental and epileptic encephalopathy, 45 tests
  • Developmental and epileptic encephalopathy, 411 test
  • Developmental and epileptic encephalopathy, 424 tests
  • Developmental and epileptic encephalopathy, 433 tests
  • Developmental and epileptic encephalopathy, 441 test
  • Developmental and epileptic encephalopathy, 451 test
  • Developmental and epileptic encephalopathy, 462 tests
  • Developmental and epileptic encephalopathy, 471 test
  • Developmental and epileptic encephalopathy, 481 test
  • Developmental and epileptic encephalopathy, 491 test
  • Developmental and epileptic encephalopathy, 53 tests
  • Developmental and epileptic encephalopathy, 502 tests
  • Developmental and epileptic encephalopathy, 512 tests
  • Developmental and epileptic encephalopathy, 532 tests
  • Developmental and epileptic encephalopathy, 543 tests
  • Developmental and epileptic encephalopathy, 552 tests
  • Developmental and epileptic encephalopathy, 561 test
  • Developmental and epileptic encephalopathy, 571 test
  • Developmental and epileptic encephalopathy, 581 test
  • Developmental and epileptic encephalopathy, 591 test
  • Developmental and epileptic encephalopathy, 61 test
  • Developmental and epileptic encephalopathy, 601 test
  • Developmental and epileptic encephalopathy, 622 tests
  • Developmental and epileptic encephalopathy, 631 test
  • Developmental and epileptic encephalopathy, 642 tests
  • Developmental and epileptic encephalopathy, 651 test
  • Developmental and epileptic encephalopathy, 661 test
  • Developmental and epileptic encephalopathy, 671 test
  • Developmental and epileptic encephalopathy, 74 tests
  • Developmental and epileptic encephalopathy, 701 test
  • Developmental and epileptic encephalopathy, 711 test
  • Developmental and epileptic encephalopathy, 751 test
  • Developmental and epileptic encephalopathy, 771 test
  • Developmental and epileptic encephalopathy, 84 tests
  • Developmental and epileptic encephalopathy, 801 test
  • Developmental and epileptic encephalopathy, 85, with or without midline brain defects2 tests
  • Developmental and epileptic encephalopathy, 94 tests
  • Developmental delay1 test
  • Developmental delay with or without dysmorphic facies and autism1 test
  • Developmental delay with variable intellectual impairment and behavioral abnormalities1 test
  • Developmental malformations-deafness-dystonia syndrome3 tests
  • Di-George syndrome1 test
  • Diabetes insipidus, nephrogenic, autosomal2 tests
  • Diabetes insipidus, nephrogenic, X-linked2 tests
  • Diabetes mellitus type 12 tests
  • Diabetes mellitus, ketosis-prone1 test
  • Diabetes mellitus, noninsulin-dependent, 53 tests
  • Diabetes mellitus, permanent neonatal 21 test
  • Diabetes mellitus, permanent neonatal 33 tests
  • Diabetes mellitus, permanent neonatal 42 tests
  • Diabetes mellitus, transient neonatal, 12 tests
  • Diabetes mellitus, transient neonatal, 22 tests
  • Diabetes mellitus, transient neonatal, 31 test
  • Diamond-Blackfan anemia1 test
  • Diamond-Blackfan anemia 14 tests
  • Diamond-Blackfan anemia 104 tests
  • Diamond-Blackfan anemia 112 tests
  • Diamond-Blackfan anemia 124 tests
  • Diamond-Blackfan anemia 132 tests
  • Diamond-Blackfan anemia 14 with mandibulofacial dysostosis1 test
  • Diamond-Blackfan anemia 15 with mandibulofacial dysostosis1 test
  • Diamond-Blackfan anemia 162 tests
  • Diamond-Blackfan anemia 172 tests
  • Diamond-Blackfan anemia 181 test
  • Diamond-Blackfan anemia 191 test
  • Diamond-Blackfan anemia 201 test
  • Diamond-Blackfan anemia 34 tests
  • Diamond-Blackfan anemia 44 tests
  • Diamond-Blackfan anemia 54 tests
  • Diamond-Blackfan anemia 64 tests
  • Diamond-Blackfan anemia 74 tests
  • Diamond-Blackfan anemia 84 tests
  • Diamond-Blackfan anemia 94 tests
  • Diaphanospondylodysostosis1 test
  • Diaphragmatic hernia 33 tests
  • Diaphyseal dysplasia4 tests
  • Diarrhea 10, protein-losing enteropathy type1 test
  • Diarrhea 91 test
  • Dias-Logan syndrome2 tests
  • Diastrophic dysplasia6 tests
  • DICER1 syndrome8 tests
  • Diets-Jongmans syndrome1 test
  • Diffuse mesangial sclerosis4 tests
  • Diffuse nonepidermolytic palmoplantar keratoderma2 tests
  • DiGeorge syndrome5 tests
  • Dihydropteridine reductase deficiency3 tests
  • Dihydropyrimidinase deficiency1 test
  • Dihydropyrimidine dehydrogenase deficiency2 tests
  • Dilated cardiomyopathy 1A11 tests
  • Dilated cardiomyopathy 1AA6 tests
  • Dilated cardiomyopathy 1BB1 test
  • Dilated cardiomyopathy 1C7 tests
  • Dilated cardiomyopathy 1CC6 tests
  • Dilated cardiomyopathy 1D3 tests
  • Dilated cardiomyopathy 1DD6 tests
  • Dilated cardiomyopathy 1E4 tests
  • Dilated cardiomyopathy 1EE4 tests
  • Dilated cardiomyopathy 1FF3 tests
  • Dilated cardiomyopathy 1GG1 test
  • Dilated cardiomyopathy 1HH3 tests
  • Dilated cardiomyopathy 1I6 tests
  • Dilated cardiomyopathy 1II3 tests
  • Dilated cardiomyopathy 1J4 tests
  • Dilated cardiomyopathy 1JJ4 tests
  • Dilated cardiomyopathy 1KK6 tests
  • Dilated cardiomyopathy 1L5 tests
  • Dilated cardiomyopathy 1M1 test
  • Dilated cardiomyopathy 1NN3 tests
  • Dilated cardiomyopathy 1O1 test
  • Dilated cardiomyopathy 1P5 tests
  • Dilated cardiomyopathy 1R5 tests
  • Dilated cardiomyopathy 1S7 tests
  • Dilated cardiomyopathy 1U1 test
  • Dilated cardiomyopathy 1V1 test
  • Dilated cardiomyopathy 1W3 tests
  • Dilated cardiomyopathy 1X4 tests
  • Dilated cardiomyopathy 1Y6 tests
  • Dilated cardiomyopathy 1Z1 test
  • Dilated cardiomyopathy 2A6 tests
  • Dilated cardiomyopathy 2B3 tests
  • Dilated cardiomyopathy 3B5 tests
  • Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome9 tests
  • Dilution, pigmentary2 tests
  • Dimethylglycine dehydrogenase deficiency1 test
  • Disorder of amino acid metabolism1 test
  • Disorder of fatty acid metabolism2 tests
  • Disorder of organic acid metabolism1 test
  • Disorder of the urea cycle metabolism1 test
  • Disorders of Intracellular Cobalamin Metabolism1 test
  • Distal arthrogryposis type 2B16 tests
  • Distal arthrogryposis type 5D4 tests
  • Distal myopathy with anterior tibial onset3 tests
  • Distal myopathy with posterior leg and anterior hand involvement3 tests
  • Distal myopathy, Tateyama type1 test
  • Distichiasis-lymphedema syndrome3 tests
  • Dizygotic twins1 test
  • DK1-congenital disorder of glycosylation4 tests
  • DNA ligase IV deficiency4 tests
  • Dominant beta-thalassemia1 test
  • Dominant dystrophic epidermolysis bullosa with absence of skin4 tests
  • Donnai-Barrow syndrome4 tests
  • DOORS syndrome6 tests
  • Dopa-responsive dystonia due to sepiapterin reductase deficiency4 tests
  • Dopamine beta-hydroxylase deficiency1 test
  • Dowling-Degos disease 11 test
  • Doyne honeycomb retinal dystrophy4 tests
  • DPAGT1-congenital disorder of glycosylation2 tests
  • DPM3-congenital disorder of glycosylation5 tests
  • Drash syndrome7 tests
  • Duane retraction syndrome 22 tests
  • Duane retraction syndrome 3 with or without deafness3 tests
  • Duane-radial ray syndrome8 tests
  • Dubin-Johnson syndrome3 tests
  • Duchenne muscular dystrophy3 tests
  • Dyggve-Melchior-Clausen syndrome1 test
  • DYRK1A-related intellectual disability syndrome3 tests
  • Dyskeratosis congenita, autosomal dominant 17 tests
  • Dyskeratosis congenita, autosomal dominant 29 tests
  • Dyskeratosis congenita, autosomal dominant 35 tests
  • Dyskeratosis congenita, autosomal dominant 62 tests
  • Dyskeratosis congenita, autosomal recessive 14 tests
  • Dyskeratosis congenita, autosomal recessive 24 tests
  • Dyskeratosis congenita, autosomal recessive 34 tests
  • Dyskeratosis congenita, autosomal recessive 56 tests
  • Dyskeratosis congenita, autosomal recessive 65 tests
  • Dyskeratosis congenita, X-linked7 tests
  • Dysmorphic features1 test
  • Dyssynergia1 test
  • Dystonia 126 tests
  • Dystonia 162 tests
  • Dystonia 242 tests
  • Dystonia 252 tests
  • Dystonia 271 test
  • Dystonia 56 tests
  • Dystonia 95 tests
  • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities3 tests
  • Dystonic disorder1 test
  • Early myoclonic encephalopathy2 tests
  • Early-onset generalized limb-onset dystonia2 tests
  • Early-onset myopathy with fatal cardiomyopathy1 test
  • Early-onset Parkinson disease 203 tests
  • Early-onset parkinsonism-intellectual disability syndrome5 tests
  • Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome1 test
  • Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome4 tests
  • EAST syndrome4 tests
  • Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant3 tests
  • Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive3 tests
  • Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant3 tests
  • Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive3 tests
  • Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis1 test
  • Ectodermal dysplasia 4, hair/nail type2 tests
  • Ectodermal dysplasia and immunodeficiency 13 tests
  • Ectodermal dysplasia and immunodeficiency 23 tests
  • Ectodermal dysplasia-syndactyly syndrome 12 tests
  • Ectopia lentis 1, isolated, autosomal dominant11 tests
  • Ectopia lentis 2, isolated, autosomal recessive3 tests
  • Ectopia lentis et pupillae3 tests
  • Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 39 tests
  • EDICT syndrome2 tests
  • EEM syndrome3 tests
  • Efavirenz response1 test
  • Ehlers-Danlos syndrome1 test
  • Ehlers-Danlos syndrome due to tenascin-X deficiency3 tests
  • Ehlers-Danlos syndrome progeroid type2 tests
  • Ehlers-danlos syndrome, arthrochalasia type, 22 tests
  • Ehlers-Danlos syndrome, arthrochalasis type10 tests
  • Ehlers-Danlos syndrome, cardiac valvular type8 tests
  • Ehlers-Danlos syndrome, classic type9 tests
  • Ehlers-Danlos syndrome, classic type, 12 tests
  • Ehlers-Danlos syndrome, classic type, 22 tests
  • Ehlers-Danlos syndrome, classic-like, 23 tests
  • Ehlers-Danlos syndrome, dermatosparaxis type3 tests
  • Ehlers-Danlos syndrome, kyphoscoliotic and deafness type4 tests
  • Ehlers-Danlos syndrome, kyphoscoliotic type 16 tests
  • Ehlers-Danlos syndrome, musculocontractural type4 tests
  • Ehlers-Danlos syndrome, musculocontractural type 11 test
  • Ehlers-Danlos syndrome, musculocontractural type 22 tests
  • Ehlers-Danlos syndrome, periodontal type 12 tests
  • Ehlers-Danlos syndrome, periodontal type 22 tests
  • Ehlers-Danlos syndrome, spondylocheirodysplastic type2 tests
  • Ehlers-Danlos syndrome, spondylodysplastic type, 11 test
  • Ehlers-Danlos syndrome, spondylodysplastic type, 23 tests
  • Ehlers-Danlos syndrome, type 32 tests
  • Ehlers-Danlos syndrome, type 49 tests
  • Eichsfeld type congenital muscular dystrophy3 tests
  • Eiken syndrome1 test
  • Elliptocytosis 12 tests
  • Elliptocytosis 23 tests
  • Elliptocytosis 31 test
  • Ellis-van Creveld syndrome11 tests
  • Elsahy-Waters syndrome2 tests
  • Emery-Dreifuss muscular dystrophy 3, autosomal recessive6 tests
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant2 tests
  • Emery-Dreifuss muscular dystrophy 7, autosomal dominant1 test
  • Encephalitis/encephalopathy, mild, with reversible myelin vacuolization4 tests
  • Encephalocraniocutaneous lipomatosis2 tests
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 21 test
  • Encephalopathy due to GLUT1 deficiency6 tests
  • Encephalopathy due to prosaposin deficiency2 tests
  • Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 81 test
  • Encephalopathy, acute, infection-induced, susceptibility to, 41 test
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 16 tests
  • Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities2 tests
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 12 tests
  • Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome5 tests
  • Endemic goiter1 test
  • Endocrine-cerebro-osteodysplasia syndrome4 tests
  • Endometrial carcinoma6 tests
  • Enterokinase deficiency1 test
  • Epidermal nevus9 tests
  • Epidermolysis bullosa dystrophica1 test
  • Epidermolysis bullosa pruriginosa4 tests
  • Epidermolysis bullosa simplex 1A, generalized severe4 tests
  • Epidermolysis bullosa simplex 1C, localized6 tests
  • Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive3 tests
  • Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency3 tests
  • Epidermolysis bullosa simplex 5B, with muscular dystrophy5 tests
  • Epidermolysis bullosa simplex 5C, with pyloric atresia5 tests
  • Epidermolysis bullosa simplex due to plakophilin deficiency3 tests
  • Epidermolysis bullosa simplex with migratory circinate erythema3 tests
  • Epidermolysis bullosa simplex with mottled pigmentation3 tests
  • Epidermolysis bullosa simplex with nail dystrophy5 tests
  • Epidermolysis bullosa simplex, Koebner type4 tests
  • Epidermolysis bullosa simplex, Ogna type5 tests
  • Epidermolytic palmoplantar keratoderma4 tests
  • Epilepsy3 tests
  • Epilepsy, childhood absence, susceptibility to, 55 tests
  • Epilepsy, familial focal, with variable foci 21 test
  • Epilepsy, familial focal, with variable foci 31 test
  • Epilepsy, familial focal, with variable foci 41 test
  • Epilepsy, familial temporal lobe, 11 test
  • Epilepsy, idiopathic generalized, susceptibility to, 101 test
  • Epilepsy, idiopathic generalized, susceptibility to, 124 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 133 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 141 test
  • Epilepsy, idiopathic generalized, susceptibility to, 161 test
  • Epilepsy, idiopathic generalized, susceptibility to, 91 test
  • Epilepsy, juvenile myoclonic, susceptibility to, 102 tests
  • Epilepsy, progressive myoclonic 2A (Lafora)1 test
  • Epilepsy, progressive myoclonic 2B (Lafora)1 test
  • Epileptic encephalopathy, infantile or early childhood, 21 test
  • Epileptic encephalopathy, infantile or early childhood, 32 tests
  • Epiphyseal dysplasia, multiple, 26 tests
  • Epiphyseal dysplasia, multiple, 35 tests
  • Epiphyseal dysplasia, multiple, 66 tests
  • Epiphyseal dysplasia, multiple, 74 tests
  • Episodic ataxia type 13 tests
  • Episodic ataxia type 24 tests
  • Episodic ataxia type 51 test
  • Episodic ataxia type 62 tests
  • Episodic ataxia, type 92 tests
  • Episodic kinesigenic dyskinesia 13 tests
  • Episodic pain syndrome, familial, 23 tests
  • Epithelial basement membrane dystrophy2 tests
  • Epithelial recurrent erosion dystrophy1 test
  • Epsilon-trimethyllysine hydroxylase deficiency1 test
  • ERCC1-Related Xeroderma Pigmentosum1 test
  • Erythrocytosis, familial, 61 test
  • Erythrokeratoderma, reticular1 test
  • Erythrokeratodermia variabilis1 test
  • Erythrokeratodermia variabilis et progressiva 11 test
  • Erythrokeratodermia variabilis et progressiva 33 tests
  • Erythroleukemia, familial, susceptibility to1 test
  • Erythropoietic protoporphyria3 tests
  • Essential hypertension3 tests
  • Essential hypertension, genetic1 test
  • Essential thrombocythemia2 tests
  • Essential tremor1 test
  • Ethylmalonic encephalopathy4 tests
  • Euthyroid goiter6 tests
  • Exercise intolerance, riboflavin-responsive1 test
  • Exercise-induced hyperinsulinism3 tests
  • Exostoses, multiple, type 24 tests
  • Extraskeletal myxoid chondrosarcoma2 tests
  • Exudative vitreoretinopathy 14 tests
  • Exudative vitreoretinopathy 2, X-linked8 tests
  • Exudative vitreoretinopathy 44 tests
  • Exudative vitreoretinopathy 53 tests
  • Exudative vitreoretinopathy 63 tests
  • Exudative vitreoretinopathy 73 tests
  • Fabry disease10 tests
  • Facial dysmorphism-immunodeficiency-livedo-short stature syndrome2 tests
  • Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome2 tests
  • Facial paresis, hereditary congenital, 31 test
  • Facioscapulohumeral muscular dystrophy 23 tests
  • Factor 5 and Factor VIII, combined deficiency of, 23 tests
  • Factor H deficiency1 test
  • Factor V and factor VIII, combined deficiency of, type 14 tests
  • Factor V deficiency4 tests
  • Factor VII deficiency4 tests
  • Factor X deficiency3 tests
  • Factor XII deficiency disease2 tests
  • Factor XIII, A subunit, deficiency of4 tests
  • Factor XIII, b subunit, deficiency of4 tests
  • FADD-related immunodeficiency2 tests
  • Failure to thrive1 test
  • Familial adenomatous polyposis 16 tests
  • Familial adenomatous polyposis 28 tests
  • Familial adenomatous polyposis 34 tests
  • Familial adenomatous polyposis 43 tests
  • Familial amyloid nephropathy with urticaria AND deafness3 tests
  • Familial apolipoprotein C-II deficiency2 tests
  • Familial atrial myxoma4 tests
  • Familial benign flecked retina4 tests
  • Familial benign pemphigus1 test
  • Familial cancer of breast22 tests
  • Familial cold autoinflammatory syndrome2 tests
  • Familial cold autoinflammatory syndrome 11 test
  • Familial cold autoinflammatory syndrome 22 tests
  • Familial cold autoinflammatory syndrome 31 test
  • Familial cold autoinflammatory syndrome 41 test
  • Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome1 test
  • Familial cylindromatosis1 test
  • Familial digital arthropathy-brachydactyly1 test
  • Familial dysautonomia5 tests
  • Familial dysfibrinogenemia1 test
  • Familial episodic pain syndrome with predominantly lower limb involvement3 tests
  • Familial expansile osteolysis2 tests
  • Familial exudative vitreoretinopathy2 tests
  • Familial focal epilepsy with variable foci2 tests
  • Familial gestational hyperthyroidism2 tests
  • Familial hemophagocytic lymphohistiocytosis 25 tests
  • Familial hemophagocytic lymphohistiocytosis 34 tests
  • Familial hemophagocytic lymphohistiocytosis 43 tests
  • Familial hemophagocytic lymphohistiocytosis 54 tests
  • Familial hyperaldosteronism type II2 tests
  • Familial hyperaldosteronism type III1 test
  • Familial hypercholesterolemia3 tests
  • Familial hyperinsulinism1 test
  • Familial hyperkalemic periodic paralysis4 tests
  • Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome1 test
  • Familial hyperprolactinemia1 test
  • Familial hyperthyroidism due to mutations in TSH receptor2 tests
  • Familial hypobetalipoproteinemia 12 tests
  • Familial hypobetalipoproteinemia 21 test
  • Familial hypocalciuric hypercalcemia2 tests
  • Familial hypocalciuric hypercalcemia 22 tests
  • Familial hypocalciuric hypercalcemia 33 tests
  • Familial hypokalemia-hypomagnesemia2 tests
  • Familial hypoparathyroidism3 tests
  • Familial idiopathic hypercalciuria2 tests
  • Familial idiopathic steroid-resistant nephrotic syndrome2 tests
  • Familial infantile myasthenia3 tests
  • Familial infantile myoclonic epilepsy6 tests
  • Familial juvenile hyperuricemic nephropathy type 13 tests
  • Familial juvenile hyperuricemic nephropathy type 21 test
  • Familial Mediterranean fever4 tests
  • Familial Mediterranean fever, autosomal dominant4 tests
  • Familial medullary thyroid carcinoma6 tests
  • Familial meningioma12 tests
  • Familial multiple polyposis syndrome1 test
  • Familial partial lipodystrophy, Dunnigan type5 tests
  • Familial porphyria cutanea tarda3 tests
  • Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome1 test
  • Familial pulmonary capillary hemangiomatosis1 test
  • Familial scaphocephaly syndrome, McGillivray type6 tests
  • Familial spontaneous pneumothorax3 tests
  • Familial steroid-resistant nephrotic syndrome with sensorineural deafness4 tests
  • Familial temporal lobe epilepsy 72 tests
  • Familial thoracic aortic aneurysm and aortic dissection1 test
  • Familial thyroid dyshormonogenesis 12 tests
  • Familial type 3 hyperlipoproteinemia1 test
  • Familial type 5 hyperlipoproteinemia2 tests
  • Familial visceral amyloidosis, Ostertag type2 tests
  • Familial X-linked hypophosphatemic vitamin D refractory rickets4 tests
  • Fanconi anemia1 test
  • Fanconi anemia complementation group A10 tests
  • Fanconi anemia complementation group B6 tests
  • Fanconi anemia complementation group C8 tests
  • Fanconi anemia complementation group D18 tests
  • Fanconi anemia complementation group D26 tests
  • Fanconi anemia complementation group E5 tests
  • Fanconi anemia complementation group F5 tests
  • Fanconi anemia complementation group G6 tests
  • Fanconi anemia complementation group I5 tests
  • Fanconi anemia complementation group J9 tests
  • Fanconi anemia complementation group L5 tests
  • Fanconi anemia complementation group N10 tests
  • Fanconi anemia complementation group O7 tests
  • Fanconi anemia complementation group P5 tests
  • Fanconi anemia complementation group Q6 tests
  • Fanconi anemia complementation group R3 tests
  • Fanconi anemia complementation group T3 tests
  • Fanconi anemia complementation group U5 tests
  • Fanconi anemia complementation group V3 tests
  • Fanconi anemia, complementation group M2 tests
  • Fanconi anemia, complementation group S3 tests
  • Fanconi anemia, complementation group W4 tests
  • Fanconi renotubular syndrome 11 test
  • Fanconi renotubular syndrome 23 tests
  • Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young2 tests
  • Fanconi renotubular syndrome 51 test
  • Fanconi-Bickel syndrome10 tests
  • Farber lipogranulomatosis3 tests
  • Fasting plasma glucose level quantitative trait locus 51 test
  • Fatal infantile hypertonic myofibrillar myopathy1 test
  • Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 34 tests
  • Fatty acyl-CoA reductase 1 deficiency1 test
  • Febrile seizures, familial, 41 test
  • Febrile seizures, familial, 82 tests
  • Feeding difficulties1 test
  • Feingold syndrome1 test
  • Feingold syndrome type 16 tests
  • Feingold syndrome type 25 tests
  • Female infertility due to zona pellucida defect3 tests
  • Fetal akinesia deformation sequence 14 tests
  • Fetal akinesia deformation sequence 21 test
  • Fetal akinesia deformation sequence 31 test
  • Fetal akinesia deformation sequence 41 test
  • Fetal akinesia-cerebral and retinal hemorrhage syndrome2 tests
  • Fetal hemoglobin quantitative trait locus 11 test
  • Fetal hemoglobin quantitative trait locus 63 tests
  • FG syndrome 112 tests
  • FG syndrome 215 tests
  • FG syndrome 44 tests
  • FGFR2-related bent bone dysplasia9 tests
  • Fibrochondrogenesis2 tests
  • Fibrochondrogenesis 14 tests
  • Fibrochondrogenesis 26 tests
  • Fibromatosis, gingival, 13 tests
  • Fibromatosis, gingival, 52 tests
  • FIBROMUSCULAR DYSPLASIA, MULTIFOCAL1 test
  • Fibrosis of extraocular muscles, congenital, 22 tests
  • Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement2 tests
  • Fibrosis of extraocular muscles, congenital, 51 test
  • Fibrous dysplasia of jaw1 test
  • Filippi syndrome2 tests
  • Finnish congenital nephrotic syndrome2 tests
  • Fish-eye disease2 tests
  • Fleck corneal dystrophy2 tests
  • Floating-Harbor syndrome6 tests
  • Focal dermal hypoplasia6 tests
  • Focal facial dermal dysplasia type III1 test
  • Focal segmental glomerulosclerosis1 test
  • Focal segmental glomerulosclerosis 12 tests
  • Focal segmental glomerulosclerosis 23 tests
  • Focal segmental glomerulosclerosis 3, susceptibility to2 tests
  • Focal segmental glomerulosclerosis 4, susceptibility to1 test
  • Focal segmental glomerulosclerosis 51 test
  • Focal segmental glomerulosclerosis 61 test
  • Focal segmental glomerulosclerosis 74 tests
  • Focal segmental glomerulosclerosis 82 tests
  • Focal segmental glomerulosclerosis 92 tests
  • Follicular thyroid carcinoma1 test
  • Fontaine progeroid syndrome2 tests
  • Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome4 tests
  • Foveal hypoplasia 19 tests
  • Fowler syndrome2 tests
  • Fragile X syndrome3 tests
  • Fragile X-associated tremor/ataxia syndrome3 tests
  • Frank-Ter Haar syndrome4 tests
  • Fraser syndrome 17 tests
  • Fraser syndrome 212 tests
  • Fraser syndrome 37 tests
  • Frasier syndrome7 tests
  • FRAXE1 test
  • Freeman-Sheldon syndrome5 tests
  • Frontometaphyseal dysplasia1 test
  • Frontometaphyseal dysplasia 110 tests
  • Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome1 test
  • Frontonasal dysplasia with alopecia and genital anomaly3 tests
  • Frontorhiny3 tests
  • Frontotemporal dementia7 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 14 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 25 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 36 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 45 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 63 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 74 tests
  • Fructose-biphosphatase deficiency4 tests
  • Fucosidosis3 tests
  • Fuhrmann syndrome2 tests
  • Fumarase deficiency7 tests
  • Gabriele de Vries syndrome1 test
  • Galactosylceramide beta-galactosidase deficiency7 tests
  • Gallbladder disease 41 test
  • Galloway-Mowat syndrome1 test
  • Galloway-Mowat syndrome 13 tests
  • Galloway-Mowat syndrome 2, X-linked3 tests
  • Galloway-Mowat syndrome 34 tests
  • Galloway-Mowat syndrome 43 tests
  • Galloway-Mowat syndrome 53 tests
  • Galloway-Mowat syndrome 62 tests
  • Galloway-Mowat syndrome 72 tests
  • Galloway-Mowat syndrome 82 tests
  • Gamma-glutamylcysteine synthetase deficiency1 test
  • GAPO syndrome1 test
  • Gastric adenocarcinoma and proximal polyposis of the stomach2 tests
  • Gastric cancer2 tests
  • Gastrointestinal stromal tumor6 tests
  • GATA binding protein 1 related thrombocytopenia with dyserythropoiesis5 tests
  • Gaucher disease perinatal lethal2 tests
  • Gaucher disease type I3 tests
  • Gaucher disease type II3 tests
  • Gaucher disease type III3 tests
  • Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome3 tests
  • Gaze palsy, familial horizontal, with progressive scoliosis 13 tests
  • Geleophysic dysplasia 13 tests
  • Geleophysic dysplasia 212 tests
  • Geleophysic dysplasia 32 tests
  • Generalized dominant dystrophic epidermolysis bullosa4 tests
  • Generalized epilepsy with febrile seizures plus, type 12 tests
  • Generalized epilepsy with febrile seizures plus, type 101 test
  • Generalized epilepsy with febrile seizures plus, type 25 tests
  • Generalized epilepsy with febrile seizures plus, type 72 tests
  • Generalized epilepsy with febrile seizures plus, type 92 tests
  • Generalized epilepsy-paroxysmal dyskinesia syndrome1 test
  • Generalized juvenile polyposis/juvenile polyposis coli5 tests
  • Generalized neonatal hypotonia1 test
  • Generalized pustular psoriasis2 tests
  • Genitopatellar syndrome3 tests
  • Genitourinary and/or brain malformation syndrome2 tests
  • Germ cell tumor of testis3 tests
  • Geroderma osteodysplastica3 tests
  • Giant axonal neuropathy 14 tests
  • Gilbert syndrome3 tests
  • Gillespie syndrome2 tests
  • Gillessen-Kaesbach-Nishimura syndrome4 tests
  • Glanzmann thrombasthenia8 tests
  • Glaucoma1 test
  • Glaucoma 1, open angle, A4 tests
  • Glaucoma 1, open angle, G2 tests
  • Glaucoma 1, open angle, O1 test
  • Glaucoma 3, primary congenital, D6 tests
  • Glaucoma 3, primary congenital, E1 test
  • Glaucoma 3A4 tests
  • Glaucoma, normal tension, susceptibility to6 tests
  • Glaucoma, primary closed-angle1 test
  • Glioma susceptibility 15 tests
  • Glioma susceptibility 24 tests
  • Glioma susceptibility 34 tests
  • Glioma susceptibility 94 tests
  • Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome2 tests
  • Global developmental delay, progressive ataxia, and elevated glutamine1 test
  • Globozoospermia4 tests
  • Glomerulopathy with fibronectin deposits 21 test
  • Glucocorticoid deficiency 21 test
  • Glucocorticoid deficiency 42 tests
  • Glucocorticoid deficiency 54 tests
  • Glucocorticoid deficiency with achalasia1 test
  • Glucocorticoid resistance3 tests
  • Glucose-6-phosphate transport defect7 tests
  • Glutamate formiminotransferase deficiency1 test
  • Glutaric aciduria, type 15 tests
  • Glutathione synthetase deficiency without 5-oxoprolinuria3 tests
  • Gluthathione peroxidase deficiency1 test
  • Gluthathione synthetase deficiency3 tests
  • Glycine N-methyltransferase deficiency3 tests
  • Glycogen storage disease due to glucose-6-phosphatase deficiency type IA4 tests
  • Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency2 tests
  • Glycogen storage disease due to muscle and heart glycogen synthase deficiency2 tests
  • Glycogen storage disease due to muscle beta-enolase deficiency2 tests
  • Glycogen storage disease due to phosphoglycerate kinase 1 deficiency6 tests
  • Glycogen storage disease IXa14 tests
  • Glycogen storage disease IXb4 tests
  • Glycogen storage disease IXc4 tests
  • Glycogen storage disease IXd3 tests
  • Glycogen storage disease type III6 tests
  • Glycogen storage disease type X3 tests
  • Glycogen storage disease XV3 tests
  • Glycogen storage disease, type II11 tests
  • Glycogen storage disease, type IV7 tests
  • Glycogen storage disease, type V4 tests
  • Glycogen storage disease, type VI4 tests
  • Glycogen storage disease, type VII5 tests
  • Glycogen storage disorder due to hepatic glycogen synthase deficiency4 tests
  • Glycosylphosphatidylinositol biosynthesis defect 153 tests
  • Glycosylphosphatidylinositol biosynthesis defect 161 test
  • Glycosylphosphatidylinositol biosynthesis defect 171 test
  • Glycosylphosphatidylinositol biosynthesis defect 181 test
  • Glycosylphosphatidylinositol biosynthesis defect 211 test
  • GM1 gangliosidosis type 23 tests
  • GM1 gangliosidosis type 33 tests
  • GM3 synthase deficiency2 tests
  • Gnathodiaphyseal dysplasia1 test
  • GNE myopathy5 tests
  • Goldberg-Shprintzen megacolon syndrome2 tests
  • Goldblatt syndrome1 test
  • Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy2 tests
  • Gonadotropin-independent familial sexual precocity5 tests
  • Gordon syndrome2 tests
  • Gorlin syndrome7 tests
  • GRACILE syndrome4 tests
  • Graft-versus-host disease, susceptibility to1 test
  • Grange syndrome3 tests
  • Granulocytopenia with immunoglobulin abnormality1 test
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative3 tests
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 23 tests
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 33 tests
  • Granulomatous disease, chronic, X-linked4 tests
  • Gray platelet syndrome3 tests
  • Grebe syndrome4 tests
  • Greenberg dysplasia5 tests
  • Greig cephalopolysyndactyly syndrome10 tests
  • Griscelli syndrome type 14 tests
  • Griscelli syndrome type 27 tests
  • Griscelli syndrome type 32 tests
  • GRN-related frontotemporal lobar degeneration with Tdp43 inclusions5 tests
  • Groenouw corneal dystrophy type I2 tests
  • Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome1 test
  • Growth delay due to insulin-like growth factor I resistance2 tests
  • GTP cyclohydrolase I deficiency1 test
  • Guttmacher syndrome8 tests
  • H syndrome2 tests
  • Haim-Munk syndrome1 test
  • Hajdu-Cheney syndrome6 tests
  • Hamartoma of hypothalamus5 tests
  • Hand-foot-genital syndrome5 tests
  • Hartsfield-Bixler-Demyer syndrome7 tests
  • Hashimoto thyroiditis2 tests
  • Hawkinsinuria2 tests
  • Hb SS disease2 tests
  • Hearing loss, autosomal dominant 34, with or without inflammation1 test
  • Hearing loss, autosomal dominant 372 tests
  • Hearing loss, autosomal dominant 711 test
  • Hearing loss, autosomal dominant 721 test
  • Hearing loss, autosomal dominant 731 test
  • Hearing loss, autosomal dominant 741 test
  • Hearing loss, autosomal dominant 841 test
  • Hearing loss, autosomal recessive 1061 test
  • Hearing loss, autosomal recessive 1071 test
  • Hearing loss, autosomal recessive 1081 test
  • Hearing loss, autosomal recessive 1101 test
  • Hearing loss, autosomal recessive 1111 test
  • Hearing loss, autosomal recessive 1121 test
  • Hearing loss, autosomal recessive 1151 test
  • Hearing loss, autosomal recessive 1171 test
  • Hearing loss, autosomal recessive 571 test
  • Hearing loss, autosomal recessive 941 test
  • Hearing loss, X-linked 13 tests
  • Hearing loss, X-linked 42 tests
  • Hearing loss, X-linked 64 tests
  • Heart defect - tongue hamartoma - polysyndactyly syndrome2 tests
  • Heart, malformation of2 tests
  • Heart-hand syndrome, Slovenian type4 tests
  • Hecht syndrome3 tests
  • Heimler syndrome 18 tests
  • Heimler syndrome 26 tests
  • Heinz body anemia2 tests
  • Helicobacter pylori infection, susceptibility to1 test
  • Hematologic neoplasm1 test
  • Hemochromatosis type 16 tests
  • Hemochromatosis type 2A2 tests
  • Hemochromatosis type 2B2 tests
  • Hemochromatosis type 32 tests
  • Hemochromatosis type 42 tests
  • Hemochromatosis type 51 test
  • Hemoglobin H disease3 tests
  • Hemolytic anemia due to adenylate kinase deficiency1 test
  • Hemolytic anemia due to glucophosphate isomerase deficiency2 tests
  • Hemolytic anemia due to glutathione reductase deficiency1 test
  • Hemolytic anemia due to hexokinase deficiency1 test
  • Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency1 test
  • Hemolytic uremic syndrome, atypical, susceptibility to, 11 test
  • Hennekam lymphangiectasia-lymphedema syndrome2 tests
  • Hennekam lymphangiectasia-lymphedema syndrome 14 tests
  • Hennekam lymphangiectasia-lymphedema syndrome 23 tests
  • Hennekam lymphangiectasia-lymphedema syndrome 31 test
  • Heparin cofactor II deficiency1 test
  • Hepatic adenomas, familial1 test
  • Hepatic methionine adenosyltransferase deficiency3 tests
  • Hepatitis B virus, susceptibility to2 tests
  • Hepatitis C virus, susceptibility to2 tests
  • Hepatocellular carcinoma5 tests
  • Hepatoencephalopathy due to combined oxidative phosphorylation defect type 13 tests
  • Hepatomegaly1 test
  • Hereditary acrodermatitis enteropathica1 test
  • Hereditary angioedema type 12 tests
  • Hereditary antithrombin deficiency2 tests
  • Hereditary arterial and articular multiple calcification syndrome1 test
  • Hereditary breast ovarian cancer syndrome2 tests
  • Hereditary cancer-predisposing syndrome1 test
  • Hereditary cerebral amyloid angiopathy, Icelandic type1 test
  • Hereditary coproporphyria4 tests
  • Hereditary cryohydrocytosis with reduced stomatin3 tests
  • Hereditary diffuse gastric adenocarcinoma12 tests
  • Hereditary diffuse leukoencephalopathy with spheroids5 tests
  • Hereditary disease8 tests
  • Hereditary factor I deficiency disease2 tests
  • Hereditary factor IX deficiency disease3 tests
  • Hereditary factor VIII deficiency disease4 tests
  • Hereditary factor X deficiency disease1 test
  • Hereditary factor XI deficiency disease3 tests
  • Hereditary fructosuria5 tests
  • Hereditary hearing loss and deafness3 tests
  • Hereditary hemochromatosis1 test
  • Hereditary hemorrhagic telangiectasia2 tests
  • Hereditary hypercarotenemia and vitamin A deficiency3 tests
  • Hereditary hyperferritinemia with congenital cataracts3 tests
  • Hereditary insensitivity to pain with anhidrosis3 tests
  • Hereditary intrinsic factor deficiency1 test
  • Hereditary leiomyomatosis and renal cell cancer7 tests
  • Hereditary liability to pressure palsies1 test
  • Hereditary lymphedema type I3 tests
  • Hereditary motor and sensory neuropathy with optic atrophy6 tests
  • Hereditary motor and sensory neuropathy, Okinawa type2 tests
  • Hereditary myopathy with lactic acidosis due to ISCU deficiency3 tests
  • Hereditary neutrophilia2 tests
  • Hereditary pancreatitis10 tests
  • Hereditary sclerosing poikiloderma with tendon and pulmonary involvement1 test
  • Hereditary sensory and autonomic neuropathy type 13 tests
  • Hereditary sensory and autonomic neuropathy type 63 tests
  • Hereditary sensory and autonomic neuropathy type 72 tests
  • Hereditary sensory and autonomic neuropathy with spastic paraplegia5 tests
  • Hereditary sensory neuropathy-deafness-dementia syndrome3 tests
  • Hereditary sideroblastic anemia1 test
  • Hereditary spastic paraplegia 1010 tests
  • Hereditary spastic paraplegia 116 tests
  • Hereditary spastic paraplegia 123 tests
  • Hereditary spastic paraplegia 135 tests
  • Hereditary spastic paraplegia 155 tests
  • Hereditary spastic paraplegia 176 tests
  • Hereditary spastic paraplegia 183 tests
  • Hereditary spastic paraplegia 26 tests
  • Hereditary spastic paraplegia 233 tests
  • Hereditary spastic paraplegia 263 tests
  • Hereditary spastic paraplegia 284 tests
  • Hereditary spastic paraplegia 305 tests
  • Hereditary spastic paraplegia 315 tests
  • Hereditary spastic paraplegia 332 tests
  • Hereditary spastic paraplegia 355 tests
  • Hereditary spastic paraplegia 392 tests
  • Hereditary spastic paraplegia 3A4 tests
  • Hereditary spastic paraplegia 45 tests
  • Hereditary spastic paraplegia 426 tests
  • Hereditary spastic paraplegia 433 tests
  • Hereditary spastic paraplegia 442 tests
  • Hereditary spastic paraplegia 453 tests
  • Hereditary spastic paraplegia 463 tests
  • Hereditary spastic paraplegia 473 tests
  • Hereditary spastic paraplegia 484 tests
  • Hereditary spastic paraplegia 493 tests
  • Hereditary spastic paraplegia 504 tests
  • Hereditary spastic paraplegia 513 tests
  • Hereditary spastic paraplegia 533 tests
  • Hereditary spastic paraplegia 544 tests
  • Hereditary spastic paraplegia 553 tests
  • Hereditary spastic paraplegia 565 tests
  • Hereditary spastic paraplegia 573 tests
  • Hereditary spastic paraplegia 5A7 tests
  • Hereditary spastic paraplegia 64 tests
  • Hereditary spastic paraplegia 613 tests
  • Hereditary spastic paraplegia 623 tests
  • Hereditary spastic paraplegia 633 tests
  • Hereditary spastic paraplegia 643 tests
  • Hereditary spastic paraplegia 79 tests
  • Hereditary spastic paraplegia 723 tests
  • Hereditary spastic paraplegia 733 tests
  • Hereditary spastic paraplegia 744 tests
  • Hereditary spastic paraplegia 753 tests
  • Hereditary spastic paraplegia 773 tests
  • Hereditary spastic paraplegia 85 tests
  • Hereditary spastic paraplegia 9A6 tests
  • Hereditary spherocytosis type 13 tests
  • Hereditary spherocytosis type 23 tests
  • Hereditary spherocytosis type 33 tests
  • Hereditary spherocytosis type 43 tests
  • Hereditary spherocytosis type 53 tests
  • Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX19 tests
  • Hereditary xanthinuria type 12 tests
  • Hermansky-Pudlak syndrome 19 tests
  • Hermansky-Pudlak syndrome 104 tests
  • Hermansky-Pudlak syndrome 210 tests
  • Hermansky-Pudlak syndrome 39 tests
  • Hermansky-Pudlak syndrome 49 tests
  • Hermansky-Pudlak syndrome 58 tests
  • Hermansky-Pudlak syndrome 69 tests
  • Hermansky-Pudlak syndrome 78 tests
  • Hermansky-Pudlak syndrome 88 tests
  • Hermansky-Pudlak syndrome 97 tests
  • Heterotaxy, visceral, 1, X-linked7 tests
  • Heterotaxy, visceral, 2, autosomal2 tests
  • Heterotaxy, visceral, 4, autosomal4 tests
  • Heterotaxy, visceral, 5, autosomal5 tests
  • Heterotaxy, visceral, 6, autosomal3 tests
  • Heterotaxy, visceral, 7, autosomal2 tests
  • Heterotaxy, visceral, 8, autosomal4 tests
  • Heterotopia, periventricular, X-linked dominant12 tests
  • Heyn-Sproul-Jackson syndrome2 tests
  • Hidrotic ectodermal dysplasia syndrome2 tests
  • High myopia-sensorineural deafness syndrome2 tests
  • Hip dysplasia, Beukes type1 test
  • Hirschsprung disease, cardiac defects, and autonomic dysfunction3 tests
  • Hirschsprung disease, susceptibility to, 16 tests
  • Hirschsprung disease, susceptibility to, 26 tests
  • Hirschsprung disease, susceptibility to, 33 tests
  • Hirschsprung disease, susceptibility to, 47 tests
  • Histiocytic medullary reticulosis7 tests
  • HNSHA due to aldolase A deficiency3 tests
  • Holocarboxylase synthetase deficiency4 tests
  • Holoprosencephaly 113 tests
  • Holoprosencephaly 12 with or without pancreatic agenesis1 test
  • Holoprosencephaly 13, X-linked1 test
  • Holoprosencephaly 23 tests
  • Holoprosencephaly 38 tests
  • Holoprosencephaly 43 tests
  • Holoprosencephaly 53 tests
  • Holoprosencephaly 77 tests
  • Holoprosencephaly 98 tests
  • Holoprosencephaly sequence3 tests
  • Holt-Oram syndrome7 tests
  • Homocystinuria due to methylene tetrahydrofolate reductase deficiency8 tests
  • Hoyeraal-Hreidarsson syndrome2 tests
  • HSD10 mitochondrial disease5 tests
  • Human HOXA1 syndromes2 tests
  • Humerofemoral hypoplasia with radiotibial ray deficiency1 test
  • Huntington disease1 test
  • Hurler syndrome3 tests
  • Hurthle cell carcinoma of thyroid1 test
  • Hutchinson-Gilford syndrome5 tests
  • Hyaline fibromatosis syndrome2 tests
  • Hydrocephalus, congenital communicating, 11 test
  • Hydrocephalus, congenital, 3, with brain anomalies1 test
  • Hydrocephalus, nonsyndromic, autosomal recessive 12 tests
  • Hydrocephalus, nonsyndromic, autosomal recessive 24 tests
  • Hydrolethalus syndrome 26 tests
  • Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome2 tests
  • Hydroxykynureninuria1 test
  • Hyper-IgE recurrent infection syndrome 17 tests
  • Hyper-IgM syndrome type 14 tests
  • Hyper-IgM syndrome type 24 tests
  • Hyper-IgM syndrome type 32 tests
  • Hyper-IgM syndrome type 52 tests
  • Hyperaldosteronism, familial, type IV2 tests
  • Hyperalphalipoproteinemia 11 test
  • Hyperammonemia2 tests
  • Hyperammonemia, type III3 tests
  • Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency4 tests
  • Hypercalcemia, infantile, 11 test
  • Hypercalcemia, infantile, 21 test
  • Hypercholanemia, familial1 test
  • Hypercholanemia, familial 11 test
  • Hypercholesterolemia, autosomal dominant, 32 tests
  • Hypercholesterolemia, autosomal dominant, type B3 tests
  • Hypercholesterolemia, familial, 43 tests
  • Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency2 tests
  • Hyperimmunoglobulin D with periodic fever6 tests
  • Hyperinsulinemic hypoglycemia, familial, 16 tests
  • Hyperinsulinemic hypoglycemia, familial, 25 tests
  • Hyperinsulinemic hypoglycemia, familial, 47 tests
  • Hyperinsulinism due to glucokinase deficiency4 tests
  • Hyperinsulinism due to INSR deficiency2 tests
  • Hyperinsulinism-hyperammonemia syndrome6 tests
  • Hyperlipidemia, familial combined, LPL related2 tests
  • Hyperlipoproteinemia type IV1 test
  • Hyperlipoproteinemia, type 1D2 tests
  • Hyperlipoproteinemia, type I3 tests
  • Hypermanganesemia with dystonia 21 test
  • Hypermanganesemia with dystonia, polycythemia, and cirrhosis1 test
  • Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase4 tests
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome3 tests
  • Hyperparathyroidism 13 tests
  • Hyperparathyroidism 2 with jaw tumors3 tests
  • Hyperphenylalaninemia due to DNAJC12 deficiency3 tests
  • Hyperphosphatasemia tarda2 tests
  • Hyperphosphatasemia with bone disease2 tests
  • Hyperphosphatasia with intellectual disability syndrome 13 tests
  • Hyperphosphatasia with intellectual disability syndrome 23 tests
  • Hyperphosphatasia with intellectual disability syndrome 31 test
  • Hyperphosphatasia with intellectual disability syndrome 41 test
  • Hyperphosphatasia with intellectual disability syndrome 51 test
  • Hyperphosphatasia with intellectual disability syndrome 62 tests
  • Hyperpigmentation with or without hypopigmentation, familial progressive3 tests
  • Hyperproinsulinemia1 test
  • Hyperprolactinemia1 test
  • Hyperthyroxinemia, dystransthyretinemic1 test
  • Hypertrichotic osteochondrodysplasia Cantu type3 tests
  • Hypertriglyceridemia, familial1 test
  • Hypertrophic cardiomyopathy 18 tests
  • Hypertrophic cardiomyopathy 105 tests
  • Hypertrophic cardiomyopathy 113 tests
  • Hypertrophic cardiomyopathy 126 tests
  • Hypertrophic cardiomyopathy 136 tests
  • Hypertrophic cardiomyopathy 147 tests
  • Hypertrophic cardiomyopathy 154 tests
  • Hypertrophic cardiomyopathy 163 tests
  • Hypertrophic cardiomyopathy 174 tests
  • Hypertrophic cardiomyopathy 187 tests
  • Hypertrophic cardiomyopathy 192 tests
  • Hypertrophic cardiomyopathy 25 tests
  • Hypertrophic cardiomyopathy 205 tests
  • Hypertrophic cardiomyopathy 255 tests
  • Hypertrophic cardiomyopathy 266 tests
  • Hypertrophic cardiomyopathy 34 tests
  • Hypertrophic cardiomyopathy 46 tests
  • Hypertrophic cardiomyopathy 65 tests
  • Hypertrophic cardiomyopathy 77 tests
  • Hypertrophic cardiomyopathy 85 tests
  • Hypertrophic cardiomyopathy 93 tests
  • Hypertrophic osteoarthropathy, primary, autosomal recessive, 21 test
  • Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome3 tests
  • Hyperuricemic nephropathy, familial juvenile type 41 test
  • Hypoalphalipoproteinemia, primary, 12 tests
  • Hypoalphalipoproteinemia, primary, 21 test
  • Hypochondroplasia12 tests
  • Hypogonadotropic hypogonadism 1 with or without anosmia10 tests
  • Hypogonadotropic hypogonadism 10 with or without anosmia6 tests
  • Hypogonadotropic hypogonadism 11 with or without anosmia7 tests
  • Hypogonadotropic hypogonadism 12 with or without anosmia6 tests
  • Hypogonadotropic hypogonadism 13 with or without anosmia6 tests
  • Hypogonadotropic hypogonadism 14 with or without anosmia8 tests
  • Hypogonadotropic hypogonadism 15 with or without anosmia6 tests
  • Hypogonadotropic hypogonadism 16 with or without anosmia7 tests
  • Hypogonadotropic hypogonadism 17 with or without anosmia5 tests
  • Hypogonadotropic hypogonadism 18 with or without anosmia8 tests
  • Hypogonadotropic hypogonadism 19 with or without anosmia4 tests
  • Hypogonadotropic hypogonadism 2 with or without anosmia13 tests
  • Hypogonadotropic hypogonadism 20 with or without anosmia5 tests
  • Hypogonadotropic hypogonadism 21 with or without anosmia4 tests
  • Hypogonadotropic hypogonadism 22 with or without anosmia7 tests
  • Hypogonadotropic hypogonadism 24 without anosmia6 tests
  • Hypogonadotropic hypogonadism 3 with or without anosmia8 tests
  • Hypogonadotropic hypogonadism 4 with or without anosmia7 tests
  • Hypogonadotropic hypogonadism 5 with or without anosmia17 tests
  • Hypogonadotropic hypogonadism 6 with or without anosmia12 tests
  • Hypogonadotropic hypogonadism 7 with or without anosmia9 tests
  • Hypogonadotropic hypogonadism 8 with or without anosmia7 tests
  • Hypogonadotropic hypogonadism 9 with or without anosmia7 tests
  • Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome1 test
  • Hypohidrotic X-linked ectodermal dysplasia3 tests
  • Hypoinsulinemic hypoglycemia and body hemihypertrophy5 tests
  • Hypokalemic periodic paralysis, type 12 tests
  • Hypokalemic periodic paralysis, type 23 tests
  • Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism2 tests
  • Hypomyelinating leukodystrophy 101 test
  • Hypomyelinating leukodystrophy 112 tests
  • Hypomyelinating leukodystrophy 121 test
  • Hypomyelinating leukodystrophy 131 test
  • Hypomyelinating leukodystrophy 23 tests
  • Hypomyelinating leukodystrophy 31 test
  • Hypomyelinating leukodystrophy 44 tests
  • Hypomyelinating leukodystrophy 62 tests
  • Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism4 tests
  • Hypomyelinating leukodystrophy 92 tests
  • Hypomyelination and Congenital Cataract3 tests
  • Hypomyelination with brain stem and spinal cord involvement and leg spasticity3 tests
  • Hypoparathyroidism - X-linked1 test
  • Hypoparathyroidism, deafness, renal disease syndrome4 tests
  • Hypoparathyroidism-retardation-dysmorphism syndrome3 tests
  • Hypophosphatemic nephrolithiasis/osteoporosis 14 tests
  • Hypophosphatemic nephrolithiasis/osteoporosis 23 tests
  • Hypophosphatemic rickets, autosomal recessive, 13 tests
  • Hypophosphatemic rickets, autosomal recessive, 23 tests
  • Hypophosphatemic rickets, X-linked recessive4 tests
  • Hypopigmentation-punctate palmoplantar keratoderma syndrome3 tests
  • Hypoplastic enamel-onycholysis-hypohidrosis syndrome4 tests
  • Hypoplastic left heart syndrome 14 tests
  • Hypoplastic left heart syndrome 24 tests
  • Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome5 tests
  • Hyposegmentation of neutrophil nuclei1 test
  • Hypospadias 1, X-linked2 tests
  • Hypospadias 2, X-linked5 tests
  • Hypospadias 3, autosomal3 tests
  • Hypothalamic hypothyroidism2 tests
  • Hypothyroidism due to TSH receptor mutations2 tests
  • Hypothyroidism, congenital, nongoitrous, 22 tests
  • Hypothyroidism, congenital, nongoitrous, 53 tests
  • Hypotonia with lactic acidemia and hyperammonemia3 tests
  • Hypotonia, ataxia, and delayed development syndrome2 tests
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 13 tests
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 24 tests
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 33 tests
  • Hypotonia-cystinuria syndrome1 test
  • Hypotrichosis-lymphedema-telangiectasia syndrome3 tests
  • Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome1 test
  • Hypouricemia, renal, 22 tests
  • I blood group system1 test
  • Ichthyosis bullosa of Siemens3 tests
  • Ichthyosis hystrix of Curth-Macklin3 tests
  • Ichthyosis prematurity syndrome2 tests
  • Ichthyosis vulgaris1 test
  • Ichthyosis, hystrix-like, with hearing loss2 tests
  • Idiopathic basal ganglia calcification 12 tests
  • Idiopathic CD4 lymphocytopenia2 tests
  • Idiopathic hypereosinophilic syndrome2 tests
  • IFAP syndrome with or without BRESHECK syndrome6 tests
  • IL21-related infantile inflammatory bowel disease3 tests
  • Imagawa-Matsumoto syndrome1 test
  • IMAGe syndrome7 tests
  • Imerslund-Grasbeck syndrome2 tests
  • Immunodeficiency 1043 tests
  • Immunodeficiency 11b with atopic dermatitis1 test
  • Immunodeficiency 146 tests
  • Immunodeficiency 181 test
  • Immunodeficiency 191 test
  • Immunodeficiency 232 tests
  • Immunodeficiency 251 test
  • Immunodeficiency 27A1 test
  • Immunodeficiency 282 tests
  • Immunodeficiency 31B3 tests
  • Immunodeficiency 32B1 test
  • Immunodeficiency 333 tests
  • Immunodeficiency 353 tests
  • Immunodeficiency 365 tests
  • Immunodeficiency 371 test
  • Immunodeficiency 475 tests
  • Immunodeficiency 571 test
  • Immunodeficiency 672 tests
  • Immunodeficiency 72 with autoinflammation1 test
  • Immunodeficiency 751 test
  • Immunodeficiency 83, susceptibility to viral infections1 test
  • Immunodeficiency 91 and hyperinflammation1 test
  • Immunodeficiency due to CD25 deficiency3 tests
  • Immunodeficiency due to MASP-2 deficiency1 test
  • Immunodeficiency, common variable, 13 tests
  • Immunodeficiency, common variable, 104 tests
  • Immunodeficiency, common variable, 122 tests
  • Immunodeficiency, common variable, 142 tests
  • Immunodeficiency, common variable, 23 tests
  • Immunodeficiency, common variable, 33 tests
  • Immunodeficiency, common variable, 43 tests
  • Immunodeficiency, common variable, 53 tests
  • Immunodeficiency, common variable, 63 tests
  • Immunodeficiency, common variable, 73 tests
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 21 test
  • Immunoglobulin A deficiency 22 tests
  • Immunoglobulin-mediated membranoproliferative glomerulonephritis2 tests
  • Inborn carbohydrate metabolic disorder1 test
  • Inborn disorder of neurotransmitter metabolism and transport1 test
  • Inborn errors of metabolism1 test
  • Inborn mitochondrial myopathy3 tests
  • Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 23 tests
  • Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 33 tests
  • Inclusion body myopathy with Paget disease of bone and frontotemporal dementia4 tests
  • Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 13 tests
  • Incontinentia pigmenti syndrome4 tests
  • Infantile cerebellar-retinal degeneration3 tests
  • Infantile convulsions and choreoathetosis4 tests
  • Infantile cortical hyperostosis8 tests
  • Infantile GM1 gangliosidosis4 tests
  • Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency1 test
  • Infantile hypophosphatasia7 tests
  • Infantile liver failure syndrome 12 tests
  • Infantile liver failure syndrome 25 tests
  • Infantile myofibromatosis2 tests
  • Infantile nephronophthisis5 tests
  • Infantile neuroaxonal dystrophy3 tests
  • Infantile onset spinocerebellar ataxia8 tests
  • Infantile-onset ascending hereditary spastic paralysis3 tests
  • Infantile-onset X-linked spinal muscular atrophy1 test
  • Infertility associated with multi-tailed spermatozoa and excessive DNA3 tests
  • Infertility due to oligospermia1 test
  • Inflammatory bowel disease 11 test
  • Inflammatory bowel disease 131 test
  • Inflammatory bowel disease 251 test
  • Inflammatory bowel disease 281 test
  • Inflammatory bowel disease, immunodeficiency, and encephalopathy1 test
  • Inflammatory skin and bowel disease, neonatal, 11 test
  • Inflammatory skin and bowel disease, neonatal, 21 test
  • Insulin-dependent diabetes mellitus secretory diarrhea syndrome4 tests
  • Insulin-resistant diabetes mellitus AND acanthosis nigricans1 test
  • Intellectual developmental disorder 611 test
  • Intellectual developmental disorder 621 test
  • Intellectual developmental disorder with autistic features and language delay, with or without seizures1 test
  • Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures2 tests
  • Intellectual developmental disorder with cardiac defects and dysmorphic facies1 test
  • Intellectual developmental disorder with dysmorphic facies and ptosis1 test
  • Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies1 test
  • Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies1 test
  • Intellectual developmental disorder with hypertelorism and distinctive facies1 test
  • Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies2 tests
  • Intellectual developmental disorder with speech delay, autism, and dysmorphic facies1 test
  • Intellectual developmental disorder, autosomal dominant 63, with macrocephaly2 tests
  • Intellectual developmental disorder, X-linked 1081 test
  • Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type1 test
  • Intellectual disability2 tests
  • Intellectual disability, autosomal dominant 14 tests
  • Intellectual disability, autosomal dominant 134 tests
  • Intellectual disability, autosomal dominant 144 tests
  • Intellectual disability, autosomal dominant 153 tests
  • Intellectual disability, autosomal dominant 166 tests
  • Intellectual disability, autosomal dominant 204 tests
  • Intellectual disability, autosomal dominant 222 tests
  • Intellectual disability, autosomal dominant 242 tests
  • Intellectual disability, autosomal dominant 274 tests
  • Intellectual disability, autosomal dominant 294 tests
  • Intellectual disability, autosomal dominant 302 tests
  • Intellectual disability, autosomal dominant 381 test
  • Intellectual disability, autosomal dominant 393 tests
  • Intellectual disability, autosomal dominant 403 tests
  • Intellectual disability, autosomal dominant 412 tests
  • Intellectual disability, autosomal dominant 431 test
  • Intellectual disability, autosomal dominant 451 test
  • Intellectual disability, autosomal dominant 471 test
  • Intellectual disability, autosomal dominant 53 tests
  • Intellectual disability, autosomal dominant 503 tests
  • Intellectual disability, autosomal dominant 512 tests
  • Intellectual disability, autosomal dominant 523 tests
  • Intellectual disability, autosomal dominant 541 test
  • Intellectual disability, autosomal dominant 571 test
  • Intellectual disability, autosomal dominant 64 tests
  • Intellectual disability, autosomal dominant 81 test
  • Intellectual disability, autosomal dominant 93 tests
  • Intellectual disability, autosomal recessive 121 test
  • Intellectual disability, autosomal recessive 131 test
  • Intellectual disability, autosomal recessive 141 test
  • Intellectual disability, autosomal recessive 21 test
  • Intellectual disability, autosomal recessive 31 test
  • Intellectual disability, autosomal recessive 341 test
  • Intellectual disability, autosomal recessive 421 test
  • Intellectual disability, autosomal recessive 461 test
  • Intellectual disability, autosomal recessive 471 test
  • Intellectual disability, autosomal recessive 532 tests
  • Intellectual disability, autosomal recessive 571 test
  • Intellectual disability, autosomal recessive 61 test
  • Intellectual disability, autosomal recessive 651 test
  • Intellectual disability, autosomal recessive 72 tests
  • Intellectual disability, X-linked 15 tests
  • Intellectual disability, X-linked 1001 test
  • Intellectual disability, X-linked 1011 test
  • Intellectual disability, X-linked 1025 tests
  • Intellectual disability, X-linked 1031 test
  • Intellectual disability, X-linked 1041 test
  • Intellectual disability, X-linked 1051 test
  • Intellectual disability, X-linked 1062 tests
  • Intellectual disability, X-linked 1071 test
  • Intellectual disability, X-linked 192 tests
  • Intellectual disability, X-linked 212 tests
  • Intellectual disability, X-linked 302 tests
  • Intellectual disability, X-linked 411 test
  • Intellectual disability, X-linked 494 tests
  • Intellectual disability, X-linked 581 test
  • Intellectual disability, X-linked 612 tests
  • Intellectual disability, X-linked 632 tests
  • Intellectual disability, X-linked 723 tests
  • Intellectual disability, X-linked 91 test
  • Intellectual disability, X-linked 902 tests
  • Intellectual disability, X-linked 932 tests
  • Intellectual disability, X-linked 961 test
  • Intellectual disability, X-linked 971 test
  • Intellectual disability, X-linked 993 tests
  • Intellectual disability, X-linked 99, syndromic, female-restricted3 tests
  • Intellectual disability, X-linked syndromic, Turner type4 tests
  • Intellectual disability, X-linked, syndromic 333 tests
  • Intellectual disability, X-linked, syndromic, 352 tests
  • Intellectual disability, X-linked, syndromic, Bain type2 tests
  • Intellectual disability, X-linked, syndromic, Houge type1 test
  • Intellectual disability, X-linked, with or without seizures, arx-related5 tests
  • Intellectual disability, X-linked, with panhypopituitarism3 tests
  • Intellectual disability-cataracts-calcified pinnae-myopathy syndrome5 tests
  • Intellectual disability-epilepsy-extrapyramidal syndrome2 tests
  • Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency5 tests
  • Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome3 tests
  • Intellectual disability-hypotonia-spasticity-sleep disorder syndrome1 test
  • Intellectual disability-hypotonic facies syndrome, X-linked, 15 tests
  • Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome3 tests
  • Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome5 tests
  • Intellectual disability-severe speech delay-mild dysmorphism syndrome5 tests
  • Intellectual disability-strabismus syndrome1 test
  • Interstitial lung disease 23 tests
  • Interstitial lung disease due to ABCA3 deficiency4 tests
  • Intervertebral disc disorder4 tests
  • Intestinal hypomagnesemia 11 test
  • Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency1 test
  • Intestinal pseudo-obstruction1 test
  • Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked9 tests
  • Intracerebral hemorrhage3 tests
  • Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency2 tests
  • Iodotyrosine deiodination defect2 tests
  • Iodotyrosyl coupling defect2 tests
  • Irido-corneo-trabecular dysgenesis8 tests
  • Ischemic stroke1 test
  • Islet cell adenomatosis2 tests
  • Isolated cryptophthalmia5 tests
  • Isolated focal cortical dysplasia type II4 tests
  • Isolated lutropin deficiency4 tests
  • Isolated microphthalmia 23 tests
  • Isolated microphthalmia 33 tests
  • Isolated microphthalmia 42 tests
  • Isolated microphthalmia 56 tests
  • Isolated microphthalmia 63 tests
  • Isolated microphthalmia 73 tests
  • Isolated microphthalmia 83 tests
  • Isolated neonatal sclerosing cholangitis2 tests
  • Isolated Nonsyndromic Congenital Heart Disease/Defects1 test
  • Isolated optic nerve hypoplasia8 tests
  • Isolated thyroid-stimulating hormone deficiency2 tests
  • Isovaleryl-CoA dehydrogenase deficiency5 tests
  • Jaberi-Elahi syndrome1 test
  • Jackson-Weiss syndrome11 tests
  • Jawad syndrome1 test
  • Jervell and Lange-Nielsen syndrome1 test
  • Jervell and Lange-Nielsen syndrome 13 tests
  • Jervell and Lange-Nielsen syndrome 24 tests
  • Johanson-Blizzard syndrome7 tests
  • Joint laxity, short stature, and myopia2 tests
  • Joubert syndrome4 tests
  • Joubert syndrome 13 tests
  • Joubert syndrome 109 tests
  • Joubert syndrome 12/15, digenic2 tests
  • Joubert syndrome 134 tests
  • Joubert syndrome 144 tests
  • Joubert syndrome 157 tests
  • Joubert syndrome 165 tests
  • Joubert syndrome 175 tests
  • Joubert syndrome 185 tests
  • Joubert syndrome 192 tests
  • Joubert syndrome 26 tests
  • Joubert syndrome 203 tests
  • Joubert syndrome 214 tests
  • Joubert syndrome 224 tests
  • Joubert syndrome 235 tests
  • Joubert syndrome 242 tests
  • Joubert syndrome 254 tests
  • Joubert syndrome 262 tests
  • Joubert syndrome 273 tests
  • Joubert syndrome 283 tests
  • Joubert syndrome 35 tests
  • Joubert syndrome 304 tests
  • Joubert syndrome 314 tests
  • Joubert syndrome 323 tests
  • Joubert syndrome 332 tests
  • Joubert syndrome 58 tests
  • Joubert syndrome 65 tests
  • Joubert syndrome 78 tests
  • Joubert syndrome 85 tests
  • Joubert syndrome 99 tests
  • Joubert syndrome with renal defect6 tests
  • Juberg-Marsidi syndrome4 tests
  • Junctional epidermolysis bullosa gravis of Herlitz6 tests
  • Junctional epidermolysis bullosa with pyloric atresia6 tests
  • Junctional epidermolysis bullosa, non-Herlitz type9 tests
  • Juvenile cataract-microcornea-renal glucosuria syndrome3 tests
  • Juvenile myelomonocytic leukemia8 tests
  • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1 test
  • Juvenile nephropathic cystinosis3 tests
  • Juvenile onset Parkinson disease 19A3 tests
  • Juvenile polyposis syndrome4 tests
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome10 tests
  • Juvenile primary lateral sclerosis1 test
  • Juvenile retinoschisis5 tests
  • Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome2 tests
  • Kabuki syndrome2 tests
  • Kabuki syndrome 115 tests
  • Kabuki syndrome 213 tests
  • Kahrizi syndrome2 tests
  • Kartagener syndrome7 tests
  • Karyomegalic interstitial nephritis2 tests
  • KBG syndrome8 tests
  • Kearns-Sayre syndrome1 test
  • Keipert syndrome1 test
  • Kennedy disease1 test
  • Keppen-Lubinsky syndrome2 tests
  • Keratitis fugax hereditaria1 test
  • Keratoconus 15 tests
  • Keratosis follicularis spinulosa decalvans, X-linked1 test
  • Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome3 tests
  • Keratosis palmoplantaris striata 22 tests
  • Keratosis palmoplantaris striata 31 test
  • Ketoacidosis due to monocarboxylate transporter-1 deficiency4 tests
  • Keutel syndrome1 test
  • Kindler syndrome3 tests
  • Kleefstra syndrome 14 tests
  • Kleefstra syndrome 21 test
  • Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome4 tests
  • Klippel-Feil syndrome 1, autosomal dominant3 tests
  • Klippel-Feil syndrome 2, autosomal recessive2 tests
  • Klippel-Feil syndrome 3, autosomal dominant3 tests
  • Kniest dysplasia13 tests
  • Knobloch syndrome5 tests
  • Knobloch syndrome 21 test
  • Knuckle pads, deafness AND leukonychia syndrome3 tests
  • Koolen-de Vries syndrome2 tests
  • Kostmann syndrome3 tests
  • Krabbe disease, atypical, due to saposin A deficiency2 tests
  • Kufor-Rakeb syndrome6 tests
  • Kugelberg-Welander disease1 test
  • L-2-hydroxyglutaric aciduria5 tests
  • Lactic acidosis2 tests
  • Lafora disease2 tests
  • Lamb-Shaffer syndrome1 test
  • LAMB2-related infantile-onset nephrotic syndrome4 tests
  • Landau-Kleffner syndrome2 tests
  • Langer mesomelic dysplasia syndrome1 test
  • Large congenital melanocytic nevus6 tests
  • Laron-type isolated somatotropin defect1 test
  • Larsen syndrome3 tests
  • Larsen-like syndrome, B3GAT3 type3 tests
  • Laryngo-onycho-cutaneous syndrome2 tests
  • Late-onset retinal degeneration3 tests
  • Lateral meningocele syndrome2 tests
  • Lathosterolosis1 test
  • Lattice corneal dystrophy Type I2 tests
  • Lattice corneal dystrophy Type III2 tests
  • Laurin-Sandrow syndrome3 tests
  • Lazy leukocyte syndrome2 tests
  • LCAT deficiency2 tests
  • Leber congenital amaurosis1 test
  • Leber congenital amaurosis 15 tests
  • Leber congenital amaurosis 106 tests
  • Leber congenital amaurosis 113 tests
  • Leber congenital amaurosis 124 tests
  • Leber congenital amaurosis 136 tests
  • Leber congenital amaurosis 146 tests
  • Leber congenital amaurosis 154 tests
  • Leber congenital amaurosis 163 tests
  • Leber congenital amaurosis 171 test
  • Leber congenital amaurosis 24 tests
  • Leber congenital amaurosis 34 tests
  • Leber congenital amaurosis 46 tests
  • Leber congenital amaurosis 56 tests
  • Leber congenital amaurosis 65 tests
  • Leber congenital amaurosis 75 tests
  • Leber congenital amaurosis 84 tests
  • Leber congenital amaurosis 92 tests
  • Leber congenital amaurosis with early-onset deafness1 test
  • Leber optic atrophy2 tests
  • Left ventricular noncompaction 15 tests
  • Left ventricular noncompaction 106 tests
  • Left ventricular noncompaction 74 tests
  • Left ventricular noncompaction 84 tests
  • Legg-Calve-Perthes disease12 tests
  • Legius syndrome3 tests
  • Leigh syndrome20 tests
  • Lenz-Majewski hyperostosis syndrome5 tests
  • LEOPARD syndrome 112 tests
  • LEOPARD syndrome 26 tests
  • LEOPARD syndrome 35 tests
  • Leprechaunism syndrome2 tests
  • Leri-Weill dyschondrosteosis1 test
  • Lesch-Nyhan syndrome3 tests
  • Lethal acantholytic epidermolysis bullosa3 tests
  • Lethal arthrogryposis-anterior horn cell disease syndrome2 tests
  • Lethal congenital contracture syndrome 13 tests
  • Lethal congenital contracture syndrome 113 tests
  • Lethal congenital contracture syndrome 22 tests
  • Lethal congenital contracture syndrome 71 test
  • Lethal congenital contracture syndrome 81 test
  • Lethal congenital contracture syndrome 91 test
  • Lethal congenital glycogen storage disease of heart5 tests
  • Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome4 tests
  • Lethal Kniest-like syndrome1 test
  • Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome1 test
  • Lethal multiple pterygium syndrome7 tests
  • Lethal osteosclerotic bone dysplasia1 test
  • Lethal polymalformative syndrome, Boissel type1 test
  • Lethal tight skin contracture syndrome7 tests
  • Lethargy1 test
  • Leucine-induced hypoglycemia3 tests
  • Leukemia, acute lymphoblastic, susceptibility to, 31 test
  • Leukocyte adhesion deficiency 12 tests
  • Leukocyte adhesion deficiency 31 test
  • Leukocyte adhesion deficiency type II2 tests
  • Leukodystrophy and acquired microcephaly with or without dystonia;1 test
  • Leukodystrophy, hypomyelinating, 141 test
  • Leukodystrophy, hypomyelinating, 151 test
  • Leukodystrophy, hypomyelinating, 161 test
  • Leukodystrophy, hypomyelinating, 171 test
  • Leukodystrophy, hypomyelinating, 181 test
  • Leukodystrophy, hypomyelinating, 19, transient infantile1 test
  • Leukodystrophy, hypomyelinating, 201 test
  • Leukodystrophy, hypomyelinating, 211 test
  • Leukodystrophy, hypomyelinating, 221 test
  • Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy1 test
  • Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome4 tests
  • Leukoencephalopathy with mild cerebellar ataxia and white matter edema3 tests
  • Leukoencephalopathy, progressive, with ovarian failure4 tests
  • Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome3 tests
  • Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome3 tests
  • Levy-Hollister syndrome16 tests
  • Lewy body dementia3 tests
  • Leydig cell agenesis2 tests
  • Li-Fraumeni syndrome 121 tests
  • Li-Fraumeni syndrome 26 tests
  • Liang-Wang syndrome1 test
  • Lichtenstein-Knorr syndrome1 test
  • Liddle syndrome2 tests
  • Limb-girdle muscular dystrophy due to POMK deficiency2 tests
  • Limb-mammary syndrome6 tests
  • Linear nevus sebaceous syndrome7 tests
  • Linear skin defects with multiple congenital anomalies 17 tests
  • Linear skin defects with multiple congenital anomalies 23 tests
  • Linear skin defects with multiple congenital anomalies 33 tests
  • Lipase deficiency, combined2 tests
  • LIPE-related familial partial lipodystrophy3 tests
  • Lipoic acid synthetase deficiency5 tests
  • Lipoyl transferase 1 deficiency3 tests
  • Lissencephaly1 test
  • Lissencephaly 101 test
  • Lissencephaly 43 tests
  • Lissencephaly 6 with microcephaly3 tests
  • Lissencephaly 7 with cerebellar hypoplasia1 test
  • Lissencephaly 82 tests
  • Lissencephaly 9 with complex brainstem malformation2 tests
  • Lissencephaly due to LIS1 mutation3 tests
  • Lissencephaly due to TUBA1A mutation3 tests
  • Lissencephaly type 1 due to doublecortin gene mutation4 tests
  • Loeys-Dietz syndrome 19 tests
  • Loeys-Dietz syndrome 214 tests
  • Loeys-Dietz syndrome 410 tests
  • Loeys-Dietz syndrome 61 test
  • Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency10 tests
  • Long QT syndrome1 test
  • Long QT syndrome 14 tests
  • Long QT syndrome 106 tests
  • Long QT syndrome 115 tests
  • Long QT syndrome 125 tests
  • Long QT syndrome 134 tests
  • Long QT syndrome 145 tests
  • Long QT syndrome 155 tests
  • Long QT syndrome 164 tests
  • Long QT syndrome 25 tests
  • Long QT syndrome 36 tests
  • Long QT syndrome 56 tests
  • Long QT syndrome 65 tests
  • Long qt syndrome 82 tests
  • Long QT syndrome 97 tests
  • Low phospholipid associated cholelithiasis2 tests
  • Lowe syndrome8 tests
  • Lower motor neuron syndrome with late-adult onset1 test
  • Lucey-Driscoll syndrome2 tests
  • Lung cancer5 tests
  • Lung carcinoma5 tests
  • Luscan-Lumish syndrome2 tests
  • Lymphangiomyomatosis2 tests
  • Lymphatic malformation 32 tests
  • Lymphatic malformation 41 test
  • Lymphatic malformation 65 tests
  • Lymphatic malformation 72 tests
  • Lymphedema-posterior choanal atresia syndrome2 tests
  • Lymphoma1 test
  • Lymphoma, non-Hodgkin, familial4 tests
  • Lymphoproliferative syndrome 14 tests
  • Lymphoproliferative syndrome 21 test
  • Lynch syndrome 116 tests
  • Lynch syndrome 413 tests
  • Lynch syndrome 515 tests
  • Lynch syndrome 815 tests
  • Lysinuric protein intolerance4 tests
  • Lysosomal acid lipase deficiency5 tests
  • Macrocephaly, dysmorphic facies, and psychomotor retardation1 test
  • Macrocephaly-autism syndrome8 tests
  • Macrocephaly-developmental delay syndrome1 test
  • Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome4 tests
  • Macrocephaly/megalencephaly syndrome, autosomal recessive1 test
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss7 tests
  • Macrothrombocytopenia, isolated, 1, autosomal dominant3 tests
  • Macular corneal dystrophy3 tests
  • Macular degeneration, age-related, 36 tests
  • Macular degeneration, early-onset3 tests
  • Macular degeneration, X-linked atrophic5 tests
  • Macular dystrophy with central cone involvement2 tests
  • Majeed syndrome3 tests
  • Malan overgrowth syndrome2 tests
  • Malaria, susceptibility to2 tests
  • Maleylacetoacetate isomerase deficiency1 test
  • Malignant hyperthermia of anesthesia1 test
  • Malignant hyperthermia, susceptibility to, 15 tests
  • Malignant hyperthermia, susceptibility to, 53 tests
  • Malignant tumor of breast1 test
  • Malignant tumor of esophagus4 tests
  • Malignant tumor of prostate14 tests
  • Malignant tumor of testis4 tests
  • Malignant tumor of urinary bladder10 tests
  • Mandibular hypoplasia-deafness-progeroid syndrome4 tests
  • Mandibuloacral dysplasia with type A lipodystrophy4 tests
  • Mandibuloacral dysplasia with type B lipodystrophy4 tests
  • Mandibulofacial dysostosis-microcephaly syndrome9 tests
  • Mannose-binding lectin deficiency1 test
  • Maple syrup urine disease9 tests
  • Marden-Walker syndrome1 test
  • Marfan syndrome20 tests
  • Marinesco-Sjögren syndrome6 tests
  • Marshall syndrome10 tests
  • Marshall-Smith syndrome2 tests
  • Martsolf syndrome5 tests
  • MASA syndrome5 tests
  • MASS syndrome13 tests
  • Mast syndrome3 tests
  • Maternal riboflavin deficiency1 test
  • Matthew-Wood syndrome3 tests
  • Maturity onset diabetes mellitus in young1 test
  • Maturity-onset diabetes of the young type 16 tests
  • Maturity-onset diabetes of the young type 104 tests
  • Maturity-onset diabetes of the young type 114 tests
  • Maturity-onset diabetes of the young type 132 tests
  • Maturity-onset diabetes of the young type 144 tests
  • Maturity-onset diabetes of the young type 24 tests
  • Maturity-onset diabetes of the young type 35 tests
  • Maturity-onset diabetes of the young type 45 tests
  • Maturity-onset diabetes of the young type 64 tests
  • Maturity-onset diabetes of the young type 74 tests
  • Maturity-onset diabetes of the young type 81 test
  • Maturity-onset diabetes of the young type 94 tests
  • McKusick-Kaufman syndrome7 tests
  • McLeod neuroacanthocytosis syndrome1 test
  • Meacham syndrome5 tests
  • Meckel syndrome 133 tests
  • Meckel syndrome, type 17 tests
  • Meckel syndrome, type 104 tests
  • Meckel syndrome, type 112 tests
  • Meckel syndrome, type 26 tests
  • Meckel syndrome, type 35 tests
  • Meckel syndrome, type 47 tests
  • Meckel syndrome, type 57 tests
  • Meckel syndrome, type 68 tests
  • Meckel syndrome, type 85 tests
  • Meckel syndrome, type 96 tests
  • Meconium ileus1 test
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency6 tests
  • MEDNIK syndrome3 tests
  • Medulloblastoma9 tests
  • Meesmann corneal dystrophy3 tests
  • Meester-Loeys syndrome3 tests
  • Megaconial type congenital muscular dystrophy4 tests
  • Megacystis, microcolon, hypoperistalsis syndrome1 test
  • Megalencephalic leukoencephalopathy with subcortical cysts2 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 12 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 2A4 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability3 tests
  • Megalencephaly-capillary malformation-polymicrogyria syndrome6 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 16 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 26 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 35 tests
  • Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness6 tests
  • Megalocornea2 tests
  • MEGF10-Related Myopathy4 tests
  • MEGF8-related Carpenter syndrome2 tests
  • MEHMO syndrome2 tests
  • Meier-Gorlin syndrome2 tests
  • Meier-Gorlin syndrome 22 tests
  • Meier-Gorlin syndrome 32 tests
  • Meier-Gorlin syndrome 42 tests
  • Meier-Gorlin syndrome 52 tests
  • Melanoma and neural system tumor syndrome2 tests
  • Melanoma, cutaneous malignant, susceptibility to, 11 test
  • Melanoma, cutaneous malignant, susceptibility to, 104 tests
  • Melanoma, cutaneous malignant, susceptibility to, 23 tests
  • Melanoma, cutaneous malignant, susceptibility to, 36 tests
  • Melanoma, cutaneous malignant, susceptibility to, 86 tests
  • Melanoma, cutaneous malignant, susceptibility to, 94 tests
  • Melanoma-pancreatic cancer syndrome4 tests
  • Melnick-Needles syndrome11 tests
  • MEND syndrome6 tests
  • Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency1 test
  • Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency2 tests
  • Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency1 test
  • Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency1 test
  • Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency3 tests
  • Menke-Hennekam syndrome 14 tests
  • Menke-Hennekam syndrome 25 tests
  • Menkes kinky-hair syndrome8 tests
  • Menstrual cycle-dependent periodic fever1 test
  • Meretoja syndrome3 tests
  • Merosin deficient congenital muscular dystrophy7 tests
  • MERRF syndrome1 test
  • Mesoaxial synostotic syndactyly with phalangeal reduction4 tests
  • Mesothelioma, malignant5 tests
  • Metabolic acidosis1 test
  • Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression2 tests
  • Metabolic disease1 test
  • Metabolic ketoacidosis1 test
  • Metabolic myopathy1 test
  • Metabolic myopathy due to lactate transporter defect1 test
  • Metabolic syndrome X1 test
  • Metachondromatosis7 tests
  • Metachromatic leukodystrophy5 tests
  • Metaphyseal chondrodysplasia, Jansen type2 tests
  • Metaphyseal chondrodysplasia, McKusick type2 tests
  • Metaphyseal chondrodysplasia, Schmid type1 test
  • Metaphyseal dysplasia without hypotrichosis2 tests
  • Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome1 test
  • Metatropic dysplasia1 test
  • Methemoglobinemia type 43 tests
  • Methemoglobinemia, alpha type1 test
  • Methemoglobinemia, beta-globin type1 test
  • Methylcobalamin deficiency type cblE4 tests
  • Methylcobalamin deficiency type cblG4 tests
  • Methylmalonate semialdehyde dehydrogenase deficiency4 tests
  • Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency4 tests
  • Methylmalonic acidemia due to transcobalamin receptor defect5 tests
  • Methylmalonic acidemia with homocystinuria, type cblJ4 tests
  • Methylmalonic acidemia with homocystinuria, type cblX5 tests
  • Methylmalonic aciduria and homocystinuria type cblD8 tests
  • Methylmalonic aciduria and homocystinuria type cblF4 tests
  • Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency7 tests
  • Methylmalonic aciduria, cblA type6 tests
  • Methylmalonic aciduria, cblB type4 tests
  • Mevalonic aciduria4 tests
  • MGAT2-congenital disorder of glycosylation2 tests
  • Microangiopathy and leukoencephalopathy, pontine, autosomal dominant6 tests
  • Microcephalic osteodysplastic primordial dwarfism type II6 tests
  • Microcephalic primordial dwarfism due to RTTN deficiency1 test
  • Microcephalic primordial dwarfism, Alazami type1 test
  • Microcephaly 1, primary, autosomal recessive2 tests
  • Microcephaly 17, primary, autosomal recessive1 test
  • Microcephaly 18, primary, autosomal dominant1 test
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations4 tests
  • Microcephaly 22, primary, autosomal recessive1 test
  • Microcephaly 3, primary, autosomal recessive3 tests
  • Microcephaly 4, primary, autosomal recessive1 test
  • Microcephaly 5, primary, autosomal recessive2 tests
  • Microcephaly 6, primary, autosomal recessive2 tests
  • Microcephaly 7, primary, autosomal recessive2 tests
  • Microcephaly 8, primary, autosomal recessive1 test
  • Microcephaly 9, primary, autosomal recessive2 tests
  • Microcephaly and chorioretinopathy 11 test
  • Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability4 tests
  • Microcephaly, developmental delay, and brittle hair syndrome1 test
  • Microcephaly, epilepsy, and diabetes syndrome1 test
  • Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome2 tests
  • Microcephaly, growth deficiency, seizures, and brain malformations2 tests
  • Microcephaly, normal intelligence and immunodeficiency10 tests
  • Microcephaly, seizures, and developmental delay2 tests
  • Microcephaly, short stature, and impaired glucose metabolism 11 test
  • Microcephaly, short stature, and impaired glucose metabolism 22 tests
  • Microcephaly-congenital cataract-psoriasiform dermatitis syndrome2 tests
  • Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome1 test
  • Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 11 test
  • Microcornea-myopic chorioretinal atrophy3 tests
  • Microcytic anemia1 test
  • Microdeletion syndromes3 tests
  • Microduplication syndromes3 tests
  • Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome2 tests
  • Microphthalmia with brain and digit anomalies14 tests
  • Microphthalmia with limb anomalies4 tests
  • Microphthalmia, isolated, with coloboma 102 tests
  • Microphthalmia, isolated, with coloboma 33 tests
  • Microphthalmia, isolated, with coloboma 55 tests
  • Microphthalmia, isolated, with coloboma 63 tests
  • Microphthalmia, isolated, with coloboma 73 tests
  • Microphthalmia, isolated, with coloboma 92 tests
  • Microphthalmia, syndromic 17 tests
  • Microphthalmia, syndromic 113 tests
  • Microphthalmia, syndromic 124 tests
  • Microspherophakia3 tests
  • Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma2 tests
  • Microvascular complications of diabetes, susceptibility to, 31 test
  • Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis1 test
  • Migraine, familial hemiplegic, 16 tests
  • Migraine, familial hemiplegic, 23 tests
  • Migraine, familial hemiplegic, 36 tests
  • Migraine, with or without aura, susceptibility to, 131 test
  • Miller Dieker syndrome1 test
  • Miller syndrome6 tests
  • MIRAGE syndrome5 tests
  • Mirror movements 22 tests
  • Mismatch repair cancer syndrome 22 tests
  • Mismatch repair cancer syndrome 32 tests
  • Mismatch repair cancer syndrome 42 tests
  • Mitchell syndrome1 test
  • Mitochondrial complex 1 deficiency, nuclear type 102 tests
  • Mitochondrial complex 1 deficiency, nuclear type 111 test
  • Mitochondrial complex 1 deficiency, nuclear type 123 tests
  • Mitochondrial complex 1 deficiency, nuclear type 132 tests
  • Mitochondrial complex 1 deficiency, nuclear type 141 test
  • Mitochondrial complex 1 deficiency, nuclear type 152 tests
  • Mitochondrial complex 1 deficiency, nuclear type 162 tests
  • Mitochondrial complex 1 deficiency, nuclear type 172 tests
  • Mitochondrial complex 1 deficiency, nuclear type 181 test
  • Mitochondrial complex 1 deficiency, nuclear type 192 tests
  • Mitochondrial complex 1 deficiency, nuclear type 21 test
  • Mitochondrial complex 1 deficiency, nuclear type 211 test
  • Mitochondrial complex 1 deficiency, nuclear type 222 tests
  • Mitochondrial complex 1 deficiency, nuclear type 232 tests
  • Mitochondrial complex 1 deficiency, nuclear type 241 test
  • Mitochondrial complex 1 deficiency, nuclear type 251 test
  • Mitochondrial complex 1 deficiency, nuclear type 262 tests
  • Mitochondrial complex 1 deficiency, nuclear type 271 test
  • Mitochondrial complex 1 deficiency, nuclear type 281 test
  • Mitochondrial complex 1 deficiency, nuclear type 291 test
  • Mitochondrial complex 1 deficiency, nuclear type 32 tests
  • Mitochondrial complex 1 deficiency, nuclear type 303 tests
  • Mitochondrial complex 1 deficiency, nuclear type 311 test
  • Mitochondrial complex 1 deficiency, nuclear type 322 tests
  • Mitochondrial complex 1 deficiency, nuclear type 341 test
  • Mitochondrial complex 1 deficiency, nuclear type 351 test
  • Mitochondrial complex 1 deficiency, nuclear type 42 tests
  • Mitochondrial complex 1 deficiency, nuclear type 52 tests
  • Mitochondrial complex 1 deficiency, nuclear type 61 test
  • Mitochondrial complex 1 deficiency, nuclear type 71 test
  • Mitochondrial complex 1 deficiency, nuclear type 82 tests
  • Mitochondrial complex 1 deficiency, nuclear type 91 test
  • Mitochondrial complex 2 deficiency, nuclear type 31 test
  • Mitochondrial complex 2 deficiency, nuclear type 41 test
  • Mitochondrial complex 4 deficiency, nuclear type 161 test
  • Mitochondrial complex 5 (ATP synthase) deficiency nuclear type 53 tests
  • Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 61 test
  • Mitochondrial complex I deficiency16 tests
  • Mitochondrial complex I deficiency, nuclear type 12 tests
  • Mitochondrial complex II deficiency, nuclear type 15 tests
  • Mitochondrial complex III deficiency1 test
  • Mitochondrial complex III deficiency nuclear type 14 tests
  • Mitochondrial complex III deficiency nuclear type 24 tests
  • Mitochondrial complex III deficiency nuclear type 34 tests
  • Mitochondrial complex III deficiency nuclear type 44 tests
  • Mitochondrial complex III deficiency nuclear type 55 tests
  • Mitochondrial complex III deficiency nuclear type 63 tests
  • Mitochondrial complex III deficiency nuclear type 73 tests
  • Mitochondrial complex III deficiency nuclear type 84 tests
  • Mitochondrial complex III deficiency nuclear type 94 tests
  • Mitochondrial complex V (ATP synthase) deficiency nuclear type 29 tests
  • Mitochondrial complex V (ATP synthase) deficiency nuclear type 33 tests
  • Mitochondrial complex V (ATP synthase) deficiency nuclear type 43 tests
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 13 tests
  • Mitochondrial disease2 tests
  • Mitochondrial DNA deletion syndrome with progressive myopathy5 tests
  • Mitochondrial DNA depletion syndrome 17 tests
  • Mitochondrial DNA depletion syndrome 115 tests
  • Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant4 tests
  • Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive5 tests
  • Mitochondrial DNA depletion syndrome 139 tests
  • Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)4 tests
  • Mitochondrial DNA depletion syndrome 15 (hepatocerebral type);2 tests
  • Mitochondrial DNA depletion syndrome 16 (hepatic type)1 test
  • Mitochondrial DNA depletion syndrome 171 test
  • Mitochondrial DNA depletion syndrome 181 test
  • Mitochondrial DNA depletion syndrome 38 tests
  • Mitochondrial DNA depletion syndrome 4b7 tests
  • Mitochondrial DNA depletion syndrome 8a6 tests
  • Mitochondrial DNA depletion syndrome 96 tests
  • Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria8 tests
  • Mitochondrial DNA depletion syndrome, myopathic form5 tests
  • Mitochondrial DNA maintenance syndrome1 test
  • Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency5 tests
  • Mitochondrial myopathy-lactic acidosis-deafness syndrome1 test
  • Mitochondrial pyruvate carrier deficiency4 tests
  • Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency4 tests
  • Mitochondrial trifunctional protein deficiency10 tests
  • Mitral valve prolapse, myxomatous 22 tests
  • Mitral valve prolapse, myxomatous 31 test
  • Miyoshi muscular dystrophy 12 tests
  • Miyoshi muscular dystrophy 32 tests
  • Miyoshi myopathy2 tests
  • MOGS-congenital disorder of glycosylation2 tests
  • Monocytopenia with susceptibility to infections3 tests
  • Monosomy 7 myelodysplasia and leukemia syndrome 22 tests
  • MORM syndrome3 tests
  • Mosaic variegated aneuploidy syndrome 12 tests
  • Mosaic variegated aneuploidy syndrome 21 test
  • Mosaic variegated aneuploidy syndrome 32 tests
  • Movement disorder1 test
  • Mowat-Wilson syndrome10 tests
  • Moyamoya disease 21 test
  • Moyamoya disease 56 tests
  • Moyamoya disease with early-onset achalasia1 test
  • MPDU1-congenital disorder of glycosylation3 tests
  • MPI-congenital disorder of glycosylation4 tests
  • Mucolipidosis type II3 tests
  • Mucolipidosis type III gamma3 tests
  • Mucolipidosis type IV3 tests
  • Mucopolysaccharidosis type 62 tests
  • Mucopolysaccharidosis type 73 tests
  • Mucopolysaccharidosis, MPS-I-H/S3 tests
  • Mucopolysaccharidosis, MPS-I-S3 tests
  • Mucopolysaccharidosis, MPS-II4 tests
  • Mucopolysaccharidosis, MPS-III-A4 tests
  • Mucopolysaccharidosis, MPS-III-B3 tests
  • Mucopolysaccharidosis, MPS-III-C3 tests
  • Mucopolysaccharidosis, MPS-III-D3 tests
  • Mucopolysaccharidosis, MPS-IV-A3 tests
  • Mucopolysaccharidosis, MPS-IV-B3 tests
  • Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders2 tests
  • Mucosa-associated lymphoma1 test
  • Muenke syndrome10 tests
  • Muir-Torré syndrome12 tests
  • Mulibrey nanism syndrome3 tests
  • Mullegama-Klein-Martinez syndrome3 tests
  • Mullerian aplasia and hyperandrogenism7 tests
  • Multicentric carpo-tarsal osteolysis with or without nephropathy3 tests
  • Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome3 tests
  • Multiple acyl-CoA dehydrogenase deficiency14 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 15 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 27 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 32 tests
  • Multiple congenital exostosis4 tests
  • Multiple endocrine neoplasia type 43 tests
  • Multiple endocrine neoplasia, type 15 tests
  • Multiple endocrine neoplasia, type 2a6 tests
  • Multiple endocrine neoplasia, type 2b6 tests
  • Multiple epiphyseal dysplasia type 12 tests
  • Multiple epiphyseal dysplasia type 45 tests
  • Multiple epiphyseal dysplasia type 52 tests
  • Multiple epiphyseal dysplasia, Al-Gazali type6 tests
  • Multiple epiphyseal dysplasia, Beighton type11 tests
  • Multiple fibrofolliculomas4 tests
  • Multiple gastrointestinal atresias2 tests
  • Multiple mitochondrial dysfunctions syndrome 14 tests
  • Multiple mitochondrial dysfunctions syndrome 24 tests
  • Multiple mitochondrial dysfunctions syndrome 33 tests
  • Multiple mitochondrial dysfunctions syndrome 43 tests
  • Multiple mitochondrial dysfunctions syndrome 51 test
  • Multiple mitochondrial dysfunctions syndrome 61 test
  • Multiple myeloma3 tests
  • Multiple self-healing squamous epithelioma3 tests
  • Multiple sulfatase deficiency4 tests
  • Multiple synostoses syndrome 24 tests
  • Multiple synostoses syndrome 41 test
  • Multiple system atrophy1 test
  • Multisystemic smooth muscle dysfunction syndrome6 tests
  • Mungan syndrome3 tests
  • Muscle AMP deaminase deficiency1 test
  • Muscle eye brain disease6 tests
  • Muscular dystrophy, limb-girdle, autosomal recessive 232 tests
  • Muscular dystrophy-dystroglycanopathy1 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 104 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 114 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 125 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 47 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 77 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 84 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A17 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A134 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A144 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A27 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A31 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A55 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A67 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A91 test
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B15 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B144 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B24 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B36 tests
  • Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B45 tests
  • Muscular dystrophy-dystroglycanopathy type B55 tests
  • Muscular dystrophy-dystroglycanopathy type B65 tests
  • Mutilating keratoderma3 tests
  • Myasthenic syndrome, congenital, 1B, fast-channel7 tests
  • Myasthenic syndrome, congenital, 222 tests
  • Myasthenic syndrome, congenital, 23, presynaptic2 tests
  • Myasthenic syndrome, congenital, 24, presynaptic2 tests
  • Myasthenic syndrome, congenital, 25, presynaptic1 test
  • Myasthenic syndrome, slow-channel congenital5 tests
  • Mycobacterium tuberculosis, susceptibility to1 test
  • Myelodysplastic syndrome5 tests
  • Myeloproliferative disorder, chronic, with eosinophilia1 test
  • MYH7-related late-onset scapuloperoneal muscular dystrophy3 tests
  • MYH7-related skeletal myopathy4 tests
  • Myhre syndrome6 tests
  • Myocardial infarction, susceptibility to1 test
  • Myoclonic dystonia 112 tests
  • Myoclonic-atonic epilepsy3 tests
  • Myoclonus, familial, 22 tests
  • Myoclonus, intractable, neonatal2 tests
  • Myofibrillar myopathy 24 tests
  • Myofibrillar myopathy 35 tests
  • Myofibrillar myopathy 46 tests
  • Myofibrillar myopathy 53 tests
  • Myofibrillar myopathy 66 tests
  • Myofibrillar myopathy 72 tests
  • Myofibrillar myopathy 82 tests
  • Myofibromatosis, infantile, 11 test
  • Myofibromatosis, infantile, 22 tests
  • Myoglobinuria, acute recurrent, autosomal recessive4 tests
  • Myopathy due to calsequestrin and SERCA1 protein overload1 test
  • Myopathy with abnormal lipid metabolism3 tests
  • Myopathy with tubular aggregates2 tests
  • Myopathy, centronuclear, 23 tests
  • Myopathy, centronuclear, 31 test
  • Myopathy, centronuclear, 52 tests
  • Myopathy, centronuclear, 6, with fiber-type disproportion1 test
  • Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies2 tests
  • Myopathy, distal, 52 tests
  • Myopathy, distal, with rimmed vacuoles1 test
  • Myopathy, lactic acidosis, and sideroblastic anemia 13 tests
  • Myopathy, lactic acidosis, and sideroblastic anemia 22 tests
  • Myopathy, myofibrillar, 9, with early respiratory failure2 tests
  • Myopathy, myosin storage, autosomal recessive2 tests
  • Myopathy, proximal, and ophthalmoplegia2 tests
  • Myopathy, reducing body, X-linked, childhood-onset2 tests
  • Myopathy, reducing body, X-linked, early-onset, severe2 tests
  • Myopathy, tubular aggregate, 14 tests
  • Myopia 21, autosomal dominant1 test
  • Myopia 22, autosomal dominant1 test
  • Myopia 23, autosomal recessive1 test
  • Myopia 24, autosomal dominant1 test
  • Myopia 25, autosomal dominant1 test
  • Myopia 26, X-linked, female-limited1 test
  • Myopia 271 test
  • Myopia 62 tests
  • Myopia, high, with cataract and vitreoretinal degeneration4 tests
  • Myosclerosis2 tests
  • Myosin storage myopathy3 tests
  • MYPN-related myopathy3 tests
  • NAD(P)HX dehydratase deficiency1 test
  • Naegeli-Franceschetti-Jadassohn syndrome2 tests
  • Nager syndrome9 tests
  • Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome3 tests
  • Nail-patella syndrome5 tests
  • Namaqualand hip dysplasia11 tests
  • Nance-Horan syndrome7 tests
  • Nanophthalmos 23 tests
  • Nanophthalmos 41 test
  • NARP syndrome1 test
  • Nasopharyngeal carcinoma1 test
  • Navajo neurohepatopathy6 tests
  • Naxos disease4 tests
  • NDE1-related microhydranencephaly2 tests
  • NEK9-related lethal skeletal dysplasia1 test
  • Nemaline myopathy1 test
  • Nemaline myopathy 14 tests
  • Nemaline myopathy 104 tests
  • Nemaline myopathy 28 tests
  • Nemaline myopathy 44 tests
  • Nemaline myopathy 54 tests
  • Nemaline myopathy 64 tests
  • Nemaline myopathy 74 tests
  • Nemaline myopathy 86 tests
  • Nemaline myopathy 92 tests
  • Neonatal acute respiratory distress due to SP-B deficiency4 tests
  • Neonatal diabetes mellitus with congenital hypothyroidism3 tests
  • Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome2 tests
  • Neonatal ichthyosis-sclerosing cholangitis syndrome2 tests
  • Neonatal intrahepatic cholestasis due to citrin deficiency7 tests
  • Neonatal pseudo-hydrocephalic progeroid syndrome2 tests
  • Neonatal respiratory distress1 test
  • Neonatal severe primary hyperparathyroidism1 test
  • Neonatal-onset encephalopathy with rigidity and seizures1 test
  • Neoplasm of ovary5 tests
  • Neoplasm of stomach1 test
  • Nephroblastoma2 tests
  • Nephrogenic syndrome of inappropriate antidiuresis2 tests
  • Nephrolithiasis susceptibility caused by SLC26A12 tests
  • Nephrolithiasis/nephrocalcinosis1 test
  • Nephronophthisis 15 tests
  • Nephronophthisis 113 tests
  • Nephronophthisis 125 tests
  • Nephronophthisis 133 tests
  • Nephronophthisis 143 tests
  • Nephronophthisis 157 tests
  • Nephronophthisis 164 tests
  • Nephronophthisis 183 tests
  • Nephronophthisis 195 tests
  • Nephronophthisis 201 test
  • Nephronophthisis 35 tests
  • Nephronophthisis 44 tests
  • Nephronophthisis 74 tests
  • Nephronophthisis 94 tests
  • Nephronophthisis type 61 test
  • Nephronophthisis-like nephropathy 12 tests
  • Nephropathic cystinosis3 tests
  • Nephrotic syndrome 142 tests
  • Nephrotic syndrome 152 tests
  • Nephrotic syndrome, type 102 tests
  • Nephrotic syndrome, type 115 tests
  • Nephrotic syndrome, type 122 tests
  • Nephrotic syndrome, type 132 tests
  • Nephrotic syndrome, type 182 tests
  • Nephrotic syndrome, type 191 test
  • Nephrotic syndrome, type 22 tests
  • Nephrotic syndrome, type 201 test
  • Nephrotic syndrome, type 212 tests
  • Nephrotic syndrome, type 32 tests
  • Nephrotic syndrome, type 43 tests
  • Nephrotic syndrome, type 61 test
  • Nephrotic syndrome, type 81 test
  • Nephrotic syndrome, type 94 tests
  • Nestor-Guillermo progeria syndrome1 test
  • Netherton syndrome3 tests
  • Neu-Laxova syndrome 14 tests
  • Neu-Laxova syndrome 21 test
  • Neural tube defect1 test
  • Neural tube defects, folate-sensitive3 tests
  • Neuroblastoma4 tests
  • Neuroblastoma, susceptibility to, 11 test
  • Neuroblastoma, susceptibility to, 24 tests
  • Neuroblastoma, susceptibility to, 34 tests
  • Neurocutaneous melanocytosis4 tests
  • Neurodegeneration with ataxia and late-onset optic atrophy1 test
  • Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset1 test
  • Neurodegeneration with brain iron accumulation 2B2 tests
  • Neurodegeneration with brain iron accumulation 44 tests
  • Neurodegeneration with brain iron accumulation 57 tests
  • Neurodegeneration with brain iron accumulation 62 tests
  • Neurodegeneration with brain iron accumulation 71 test
  • Neurodegeneration with brain iron accumulation 81 test
  • Neurodegeneration, infantile-onset, biotin-responsive1 test
  • Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity1 test
  • Neurodevelopmental disorder with alopecia and brain abnormalities1 test
  • Neurodevelopmental disorder with cerebellar atrophy and with or without seizures1 test
  • Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism1 test
  • Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities3 tests
  • Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies1 test
  • Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities1 test
  • Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination1 test
  • Neurodevelopmental disorder with involuntary movements2 tests
  • Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity1 test
  • Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination1 test
  • Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures1 test
  • Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart2 tests
  • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive1 test
  • Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA1 test
  • Neurodevelopmental disorder with poor language and loss of hand skills1 test
  • Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies1 test
  • Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities3 tests
  • Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures3 tests
  • Neurodevelopmental disorder with visual defects and brain anomalies1 test
  • Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures2 tests
  • Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation1 test
  • Neurodevelopmental, jaw, eye, and digital syndrome1 test
  • Neuroferritinopathy2 tests
  • Neurofibromatosis, familial spinal10 tests
  • Neurofibromatosis, type 120 tests
  • Neurofibromatosis, type 23 tests
  • Neurofibromatosis-Noonan syndrome13 tests
  • Neurohypophyseal diabetes insipidus2 tests
  • Neurological deficit1 test
  • Neuromuscular disease1 test
  • Neuronal ceroid lipofuscinosis1 test
  • Neuronal ceroid lipofuscinosis 16 tests
  • Neuronal ceroid lipofuscinosis 104 tests
  • Neuronal ceroid lipofuscinosis 114 tests
  • Neuronal ceroid lipofuscinosis 133 tests
  • Neuronal ceroid lipofuscinosis 24 tests
  • Neuronal ceroid lipofuscinosis 37 tests
  • Neuronal ceroid lipofuscinosis 53 tests
  • Neuronal ceroid lipofuscinosis 75 tests
  • Neuronal ceroid lipofuscinosis 84 tests
  • Neuronal ceroid lipofuscinosis 8 northern epilepsy variant4 tests
  • Neuronopathy, distal hereditary motor, type 2A3 tests
  • Neuronopathy, distal hereditary motor, type 2B3 tests
  • Neuronopathy, distal hereditary motor, type 2C2 tests
  • Neuronopathy, distal hereditary motor, type 2D2 tests
  • Neuronopathy, distal hereditary motor, type 5A7 tests
  • Neuronopathy, distal hereditary motor, type 5B4 tests
  • Neuronopathy, distal hereditary motor, type 7A4 tests
  • Neuronopathy, distal hereditary motor, type 7B6 tests
  • Neurooculocardiogenitourinary syndrome3 tests
  • Neuropathy, congenital hypomyelinating, 32 tests
  • Neuropathy, hereditary motor and sensory, type 6B1 test
  • Neuropathy, hereditary sensory and autonomic, type 1C2 tests
  • Neuropathy, hereditary sensory and autonomic, type 2A2 tests
  • Neuropathy, hereditary sensory and autonomic, type 2B2 tests
  • Neuropathy, hereditary sensory, type 1D2 tests
  • Neuropathy, hereditary sensory, type 1F2 tests
  • Neuropathy, hereditary sensory, type 2C4 tests
  • Neutral lipid storage myopathy5 tests
  • Neutropenia, severe congenital, 1, autosomal dominant5 tests
  • Neutropenia, severe congenital, 2, autosomal dominant3 tests
  • Neutropenia, severe congenital, 8, autosomal dominant1 test
  • Neutrophil immunodeficiency syndrome2 tests
  • Newfoundland cone-rod dystrophy2 tests
  • Nicolaides-Baraitser syndrome2 tests
  • Niemann-Pick disease, type A4 tests
  • Niemann-Pick disease, type B5 tests
  • Niemann-Pick disease, type C16 tests
  • Niemann-Pick disease, type C26 tests
  • Night blindness, congenital stationary, type1i1 test
  • Nijmegen breakage syndrome-like disorder4 tests
  • NODAL-Related Holoprosencephaly1 test
  • Non-acquired combined pituitary hormone deficiency with spine abnormalities6 tests
  • Non-Hodgkin lymphoma1 test
  • Non-ketotic hyperglycinemia5 tests
  • Nonarteritic anterior ischemic optic neuropathy, susceptibility to1 test
  • Nonimmune chronic idiopathic neutropenia of adults3 tests
  • Nonpapillary renal cell carcinoma7 tests
  • Nonsyndromic congenital nail disorder 83 tests
  • Noonan syndrome1 test
  • Noonan syndrome 116 tests
  • Noonan syndrome 107 tests
  • Noonan syndrome 114 tests
  • Noonan syndrome 121 test
  • Noonan syndrome 131 test
  • Noonan syndrome 24 tests
  • Noonan syndrome 39 tests
  • Noonan syndrome 410 tests
  • Noonan syndrome 58 tests
  • Noonan syndrome 610 tests
  • Noonan syndrome 78 tests
  • Noonan syndrome 87 tests
  • Noonan syndrome 96 tests
  • Noonan syndrome-like disorder with loose anagen hair2 tests
  • Noonan syndrome-like disorder with loose anagen hair 15 tests
  • Noonan syndrome-like disorder with loose anagen hair 26 tests
  • Normal pressure hydrocephalus1 test
  • Norman-Roberts syndrome4 tests
  • Normophosphatemic familial tumoral calcinosis4 tests
  • North Carolina macular dystrophy1 test
  • NPHP3-related Meckel-like syndrome4 tests
  • Nuclear pulverulent cataract4 tests
  • Nystagmus 1, congenital, X-linked1 test
  • Nystagmus 6, congenital, X-linked4 tests
  • O'Donnell-Luria-Rodan syndrome2 tests
  • Obesity10 tests
  • OBESITY (BMIQ12), SUSCEPTIBILITY TO2 tests
  • Obesity due to congenital leptin deficiency8 tests
  • Obesity due to leptin receptor gene deficiency8 tests
  • Obesity due to pro-opiomelanocortin deficiency3 tests
  • Obesity due to prohormone convertase I deficiency9 tests
  • Obesity, hyperphagia, and developmental delay2 tests
  • Occipital pachygyria and polymicrogyria1 test
  • Occult macular dystrophy1 test
  • Ochoa syndrome2 tests
  • Ocular albinism with congenital sensorineural hearing loss6 tests
  • Ocular albinism, type I4 tests
  • Ocular albinism, type II3 tests
  • Ocular cystinosis3 tests
  • Oculoauricular syndrome2 tests
  • Oculocutaneous albinism1 test
  • Oculocutaneous albinism type 13 tests
  • Oculocutaneous albinism type 1B3 tests
  • Oculocutaneous albinism type 33 tests
  • Oculocutaneous albinism type 43 tests
  • Oculocutaneous albinism type 62 tests
  • Oculocutaneous albinism type 73 tests
  • Oculocutaneous albinism type 82 tests
  • Oculocutaneous or ocular albinism1 test
  • Oculodentodigital dysplasia10 tests
  • Oculodentodigital dysplasia, autosomal recessive8 tests
  • Oculofaciocardiodental syndrome11 tests
  • Oculomaxillofacial dysostosis4 tests
  • Oculootoradial syndrome5 tests
  • Oculopharyngeal muscular dystrophy1 test
  • Oculotrichoanal syndrome8 tests
  • Odonto-onycho-dermal dysplasia2 tests
  • Ogden syndrome7 tests
  • Oguchi disease2 tests
  • Oguchi disease-11 test
  • Oguchi disease-22 tests
  • Oligodontia-cancer predisposition syndrome6 tests
  • Oligosynaptic infertility2 tests
  • Olmsted syndrome, X-linked3 tests
  • Opsismodysplasia1 test
  • Optic atrophy3 tests
  • Optic atrophy 10 with or without ataxia, intellectual disability, and seizures1 test
  • Optic atrophy 36 tests
  • Optic atrophy 53 tests
  • Optic atrophy 91 test
  • Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy8 tests
  • Optic nerve edema-splenomegaly syndrome1 test
  • Ornithine aminotransferase deficiency4 tests
  • Ornithine carbamoyltransferase deficiency7 tests
  • Orofacial cleft 101 test
  • Orofacial cleft 117 tests
  • Orofacial cleft 151 test
  • Orofacial cleft 52 tests
  • Orofacial cleft 6, susceptibility to3 tests
  • Orofacial cleft 84 tests
  • Orofacial-digital syndrome IV3 tests
  • Orofaciodigital syndrome 163 tests
  • Orofaciodigital syndrome 173 tests
  • Orofaciodigital syndrome I6 tests
  • Orofaciodigital syndrome type 142 tests
  • Orofaciodigital syndrome type 62 tests
  • Orotic aciduria1 test
  • Osteoarthritis, hip2 tests
  • Osteochondrodysplasia, brachydactyly, and overlapping malformed digits3 tests
  • Osteocraniostenosis2 tests
  • Osteofibrous dysplasia1 test
  • Osteogenesis imperfecta type 105 tests
  • Osteogenesis imperfecta type 115 tests
  • Osteogenesis imperfecta type 125 tests
  • Osteogenesis imperfecta type 135 tests
  • Osteogenesis imperfecta type 145 tests
  • Osteogenesis imperfecta type 155 tests
  • Osteogenesis imperfecta type 161 test
  • Osteogenesis imperfecta type 177 tests
  • Osteogenesis imperfecta type 55 tests
  • Osteogenesis imperfecta type 65 tests
  • Osteogenesis imperfecta type 77 tests
  • Osteogenesis imperfecta type 87 tests
  • Osteogenesis imperfecta type 94 tests
  • Osteogenesis imperfecta type I9 tests
  • Osteogenesis imperfecta type III9 tests
  • Osteogenesis imperfecta with normal sclerae, dominant form9 tests
  • Osteogenesis imperfecta, CREB3L1 related2 tests
  • Osteogenesis imperfecta, recessive perinatal lethal9 tests
  • Osteogenesis imperfecta, type 184 tests
  • Osteogenesis imperfecta, type 192 tests
  • Osteogenesis imperfecta, type 201 test
  • Osteogenesis imperfecta, type 211 test
  • Osteoglophonic dysplasia8 tests
  • Osteopathia striata with cranial sclerosis3 tests
  • Osteopetrosis with renal tubular acidosis4 tests
  • Osteoporosis with pseudoglioma2 tests
  • OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO1 test
  • Osteosarcoma1 test
  • Otitis media, susceptibility to1 test
  • Oto-palato-digital syndrome, type I13 tests
  • Oto-palato-digital syndrome, type II14 tests
  • Otofaciocervical syndrome 13 tests
  • Otofaciocervical syndrome 21 test
  • Otospondylomegaepiphyseal dysplasia, autosomal dominant7 tests
  • Otospondylomegaepiphyseal dysplasia, autosomal recessive8 tests
  • Ovarian dysgenesis 15 tests
  • Ovarian dysgenesis 25 tests
  • Ovarian dysgenesis 35 tests
  • Ovarian dysgenesis 52 tests
  • Ovarian dysgenesis 71 test
  • Ovarian hyperstimulation syndrome3 tests
  • Overhydrated hereditary stomatocytosis1 test
  • Oxoglutaricaciduria1 test
  • Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures1 test
  • Paganini-Miozzo syndrome1 test
  • Paget disease of bone 2, early-onset4 tests
  • Paget disease of bone 34 tests
  • Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome3 tests
  • Pallister-Hall syndrome14 tests
  • Palmoplantar keratoderma-deafness syndrome3 tests
  • Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome5 tests
  • Pancreatic agenesis 13 tests
  • Pancreatic agenesis 23 tests
  • Pancreatic cancer, susceptibility to, 12 tests
  • Pancreatic cancer, susceptibility to, 212 tests
  • Pancreatic cancer, susceptibility to, 38 tests
  • Pancreatic cancer, susceptibility to, 410 tests
  • Pancreatic cancer, susceptibility to, 52 tests
  • Pancreatic hypoplasia-diabetes-congenital heart disease syndrome4 tests
  • Pancreatic triacylglycerol lipase deficiency1 test
  • Pancytopenia due to IKZF1 mutations3 tests
  • Pancytopenia-developmental delay syndrome1 test
  • Panhypopituitarism, X-linked9 tests
  • Papillary renal cell carcinoma type 12 tests
  • Papillon-Lefèvre syndrome2 tests
  • Paragangliomas 16 tests
  • Paragangliomas 24 tests
  • Paragangliomas 37 tests
  • Paragangliomas 49 tests
  • Paragangliomas 58 tests
  • Paragangliomas 73 tests
  • Paragangliomas with sensorineural hearing loss1 test
  • Paramyotonia congenita of Von Eulenburg2 tests
  • Parastremmatic dwarfism1 test
  • Parathyroid carcinoma5 tests
  • Parietal foramina 12 tests
  • Parietal foramina 22 tests
  • Parietal foramina with cleidocranial dysplasia2 tests
  • Paris-Trousseau thrombocytopenia2 tests
  • Parkinson disease1 test
  • Parkinson disease 11, autosomal dominant, susceptibility to2 tests
  • Parkinson disease 13, autosomal dominant, susceptibility to3 tests
  • Parkinson disease 172 tests
  • Parkinson disease 18, autosomal dominant, susceptibility to2 tests
  • Parkinson disease 22, autosomal dominant2 tests
  • Parkinson disease 5, autosomal dominant, susceptibility to2 tests
  • Parkinson disease, late-onset5 tests
  • Parkinsonian-pyramidal syndrome3 tests
  • Parkinsonism-dystonia, infantile2 tests
  • Parkinsonism-dystonia, infantile, 21 test
  • Paroxysmal extreme pain disorder2 tests
  • Paroxysmal nocturnal hemoglobinuria 15 tests
  • Paroxysmal nocturnal hemoglobinuria 21 test
  • Paroxysmal nonkinesigenic dyskinesia2 tests
  • Paroxysmal nonkinesigenic dyskinesia 11 test
  • Partial albinism3 tests
  • Partial androgen insensitivity syndrome2 tests
  • Partial hypoxanthine-guanine phosphoribosyltransferase deficiency2 tests
  • Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome5 tests
  • Partington syndrome6 tests
  • Patent ductus arteriosus 22 tests
  • Patent ductus arteriosus 31 test
  • Patterned dystrophy of the retinal pigment epithelium2 tests
  • Patterned macular dystrophy 11 test
  • Patterned macular dystrophy 22 tests
  • PCWH syndrome10 tests
  • Pearson syndrome1 test
  • Pelger-Huët anomaly4 tests
  • Pelizaeus-Merzbacher disease6 tests
  • Pelviscapular dysplasia5 tests
  • Pendred syndrome4 tests
  • PERCHING syndrome1 test
  • Periodic fever-infantile enterocolitis-autoinflammatory syndrome2 tests
  • Periodontitis, aggressive 11 test
  • Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome2 tests
  • Periventricular heterotopia with microcephaly, autosomal recessive3 tests
  • Periventricular nodular heterotopia 75 tests
  • Periventricular nodular heterotopia 91 test
  • Perlman syndrome6 tests
  • Permanent neonatal diabetes mellitus3 tests
  • Permanent neonatal diabetes mellitus 11 test
  • Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome3 tests
  • Peroxisome biogenesis disorder1 test
  • Peroxisome biogenesis disorder 10A (Zellweger)8 tests
  • Peroxisome biogenesis disorder 10B5 tests
  • Peroxisome biogenesis disorder 11A (Zellweger)8 tests
  • Peroxisome biogenesis disorder 11B7 tests
  • Peroxisome biogenesis disorder 12A (Zellweger)7 tests
  • Peroxisome biogenesis disorder 13A (Zellweger)7 tests
  • Peroxisome biogenesis disorder 14B8 tests
  • Peroxisome biogenesis disorder 1A (Zellweger)5 tests
  • Peroxisome biogenesis disorder 1B11 tests
  • Peroxisome biogenesis disorder 2A (Zellweger)6 tests
  • Peroxisome biogenesis disorder 2B6 tests
  • Peroxisome biogenesis disorder 3A (Zellweger)8 tests
  • Peroxisome biogenesis disorder 4A (Zellweger)8 tests
  • Peroxisome biogenesis disorder 4B9 tests
  • Peroxisome biogenesis disorder 5A (Zellweger)8 tests
  • Peroxisome biogenesis disorder 5B7 tests
  • Peroxisome biogenesis disorder 6A (Zellweger)7 tests
  • Peroxisome biogenesis disorder 6B8 tests
  • Peroxisome biogenesis disorder 7A (Zellweger)9 tests
  • Peroxisome biogenesis disorder 7B8 tests
  • Peroxisome biogenesis disorder 8A (Zellweger)7 tests
  • Peroxisome biogenesis disorder 8B8 tests
  • Peroxisome biogenesis disorder 9B7 tests
  • Peroxisome biogenesis disorder type 3B5 tests
  • Perrault syndrome1 test
  • Perrault syndrome 17 tests
  • Perrault syndrome 23 tests
  • Perrault syndrome 36 tests
  • Perrault syndrome 43 tests
  • Perrault syndrome 54 tests
  • Perrault syndrome 61 test
  • Perry syndrome6 tests
  • Persistent hyperplastic primary vitreous, autosomal recessive4 tests
  • Persistent Mullerian duct syndrome3 tests
  • Peters plus syndrome9 tests
  • Pettigrew syndrome2 tests
  • Peutz-Jeghers syndrome12 tests
  • Pfeiffer syndrome12 tests
  • PGM1-congenital disorder of glycosylation6 tests
  • PHARC syndrome4 tests
  • Phelan-McDermid syndrome4 tests
  • Phenylketonuria2 tests
  • Pheochromocytoma13 tests
  • PHGDH deficiency3 tests
  • PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome1 test
  • Phosphate transport defect6 tests
  • Phosphoenolpyruvate carboxykinase deficiency, cytosolic4 tests
  • Phosphoenolpyruvate carboxykinase deficiency, mitochondrial4 tests
  • Phosphoribosylpyrophosphate synthetase superactivity3 tests
  • Phytanic acid storage disease3 tests
  • Pick disease3 tests
  • Pierpont syndrome2 tests
  • Pierson syndrome3 tests
  • Pigmentary pallidal degeneration2 tests
  • Pigmentary retinal dystrophy11 tests
  • Pigmented nodular adrenocortical disease, primary, 13 tests
  • Pigmented nodular adrenocortical disease, primary, 21 test
  • Pigmented paravenous retinochoroidal atrophy2 tests
  • Pili torti-deafness syndrome4 tests
  • Pilomatrixoma3 tests
  • Pitt-Hopkins syndrome6 tests
  • Pitt-Hopkins-like syndrome 25 tests
  • Pituitary adenoma 3, multiple types1 test
  • Pituitary adenoma 5, multiple types1 test
  • Pituitary dependent hypercortisolism1 test
  • Pituitary hormone deficiency, combined, 12 tests
  • Pituitary hormone deficiency, combined, 29 tests
  • Pituitary hormone deficiency, combined, 63 tests
  • Pityriasis rubra pilaris2 tests
  • Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease3 tests
  • Platelet-type bleeding disorder 103 tests
  • Platelet-type bleeding disorder 113 tests
  • Platelet-type bleeding disorder 153 tests
  • Platelet-type bleeding disorder 162 tests
  • Platelet-type bleeding disorder 173 tests
  • Platelet-type bleeding disorder 193 tests
  • Platelet-type bleeding disorder 84 tests
  • Platelet-type bleeding disorder 92 tests
  • Platyspondylic dysplasia, Torrance type11 tests
  • Pleuropulmonary blastoma2 tests
  • PLIN1-related familial partial lipodystrophy2 tests
  • PMM2-congenital disorder of glycosylation5 tests
  • Poikiloderma with neutropenia3 tests
  • Polycystic kidney disease1 test
  • Polycystic kidney disease 26 tests
  • Polycystic kidney disease 3 with or without polycystic liver disease5 tests
  • Polycystic kidney disease 41 test
  • Polycystic kidney disease 53 tests
  • Polycystic kidney disease 6 with or without polycystic liver disease5 tests
  • Polycystic kidney disease 73 tests
  • Polycystic kidney disease, adult type2 tests
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 12 tests
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 23 tests
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly2 tests
  • Polycystic liver disease 14 tests
  • Polycystic liver disease 3 with or without kidney cysts5 tests
  • Polycystic liver disease 4 with or without kidney cysts3 tests
  • Polydactyly of a triphalangeal thumb4 tests
  • Polydactyly, postaxial, type A17 tests
  • Polydactyly, postaxial, type a102 tests
  • Polydactyly, postaxial, type A62 tests
  • Polydactyly, postaxial, type a72 tests
  • Polydactyly, postaxial, type A82 tests
  • Polydactyly, postaxial, type A92 tests
  • Polyendocrine-polyneuropathy syndrome1 test
  • Polyglandular autoimmune syndrome, type 18 tests
  • Polyglucosan body myopathy type 13 tests
  • Polyglucosan body myopathy type 22 tests
  • Polyhydramnios, megalencephaly, and symptomatic epilepsy1 test
  • Polymicrogyria with optic nerve hypoplasia2 tests
  • Polymicrogyria with or without vascular-type ehlers-danlos syndrome3 tests
  • Polymicrogyria, bilateral perisylvian, autosomal recessive2 tests
  • Polyposis syndrome, hereditary mixed, 25 tests
  • Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal3 tests
  • Polysyndactyly 49 tests
  • Pontocerebellar hypoplasia type 102 tests
  • Pontocerebellar hypoplasia type 1A1 test
  • Pontocerebellar hypoplasia type 1B4 tests
  • Pontocerebellar hypoplasia type 2A3 tests
  • Pontocerebellar hypoplasia type 2B3 tests
  • Pontocerebellar hypoplasia type 2C3 tests
  • Pontocerebellar hypoplasia type 2D2 tests
  • Pontocerebellar hypoplasia type 2E2 tests
  • Pontocerebellar hypoplasia type 45 tests
  • Pontocerebellar hypoplasia type 53 tests
  • Pontocerebellar hypoplasia type 64 tests
  • Pontocerebellar hypoplasia type 73 tests
  • Pontocerebellar hypoplasia type 83 tests
  • Pontocerebellar hypoplasia type 92 tests
  • Pontocerebellar hypoplasia, type 2F2 tests
  • Pontoneocerebellar hypoplasia1 test
  • Popliteal pterygium syndrome8 tests
  • Porencephaly 26 tests
  • Porencephaly-microcephaly-bilateral congenital cataract syndrome4 tests
  • Porokeratosis 3, disseminated superficial actinic type3 tests
  • Porphobilinogen synthase deficiency2 tests
  • Portal hypertension, noncirrhotic4 tests
  • Postaxial polydactyly2 tests
  • Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome7 tests
  • Posterior column ataxia-retinitis pigmentosa syndrome4 tests
  • Posterior polymorphous corneal dystrophy 13 tests
  • Posterior polymorphous corneal dystrophy 23 tests
  • Posterior polymorphous corneal dystrophy 32 tests
  • Postmenopausal osteoporosis9 tests
  • Potassium-aggravated myotonia3 tests
  • Potocki-Lupski syndrome1 test
  • PPARG-related familial partial lipodystrophy4 tests
  • Prader-Willi syndrome1 test
  • Preaxial hand polydactyly2 tests
  • Predisposition to invasive fungal disease due to CARD9 deficiency1 test
  • Preeclampsia/eclampsia 11 test
  • Pregnancy loss, recurrent, susceptibility to, 11 test
  • Pregnancy loss, recurrent, susceptibility to, 21 test
  • Preimplantation embryonic lethality 22 tests
  • Premature chromatid separation trait2 tests
  • Premature ovarian failure 13 tests
  • Premature ovarian failure 104 tests
  • Premature ovarian failure 122 tests
  • Premature ovarian failure 153 tests
  • Premature ovarian failure 171 test
  • Premature ovarian failure 181 test
  • Premature ovarian failure 33 tests
  • Premature ovarian failure 53 tests
  • Premature ovarian failure 64 tests
  • Premature ovarian failure 75 tests
  • Premature ovarian failure 84 tests
  • Premature ovarian failure 94 tests
  • Pretibial dystrophic epidermolysis bullosa4 tests
  • Primary CD59 deficiency1 test
  • Primary ciliary dyskinesia6 tests
  • Primary ciliary dyskinesia 105 tests
  • Primary ciliary dyskinesia 114 tests
  • Primary ciliary dyskinesia 124 tests
  • Primary ciliary dyskinesia 135 tests
  • Primary ciliary dyskinesia 145 tests
  • Primary ciliary dyskinesia 155 tests
  • Primary ciliary dyskinesia 165 tests
  • Primary ciliary dyskinesia 175 tests
  • Primary ciliary dyskinesia 185 tests
  • Primary ciliary dyskinesia 195 tests
  • Primary ciliary dyskinesia 25 tests
  • Primary ciliary dyskinesia 205 tests
  • Primary ciliary dyskinesia 214 tests
  • Primary ciliary dyskinesia 225 tests
  • Primary ciliary dyskinesia 234 tests
  • Primary ciliary dyskinesia 244 tests
  • Primary ciliary dyskinesia 254 tests
  • Primary ciliary dyskinesia 265 tests
  • Primary ciliary dyskinesia 274 tests
  • Primary ciliary dyskinesia 285 tests
  • Primary ciliary dyskinesia 294 tests
  • Primary ciliary dyskinesia 35 tests
  • Primary ciliary dyskinesia 305 tests
  • Primary ciliary dyskinesia 324 tests
  • Primary ciliary dyskinesia 335 tests
  • Primary ciliary dyskinesia 344 tests
  • Primary ciliary dyskinesia 355 tests
  • Primary ciliary dyskinesia 54 tests
  • Primary ciliary dyskinesia 65 tests
  • Primary ciliary dyskinesia 75 tests
  • Primary ciliary dyskinesia 95 tests
  • Primary coenzyme Q10 deficiency 81 test
  • Primary dilated cardiomyopathy2 tests
  • Primary erythromelalgia2 tests
  • Primary failure of tooth eruption1 test
  • Primary familial polycythemia due to EPO receptor mutation3 tests
  • Primary hyperoxaluria type 33 tests
  • Primary hyperoxaluria, type I4 tests
  • Primary hyperoxaluria, type II3 tests
  • Primary hypomagnesemia3 tests
  • Primary immunodeficiency syndrome due to p14 deficiency2 tests
  • Primary intraosseous venous malformation1 test
  • Primary myelofibrosis2 tests
  • Primary open angle glaucoma2 tests
  • Progeroid and marfanoid aspect-lipodystrophy syndrome13 tests
  • Progeroid features-hepatocellular carcinoma predisposition syndrome1 test
  • Progressive bulbar palsy of childhood4 tests
  • Progressive demyelinating neuropathy with bilateral striatal necrosis1 test
  • Progressive encephalopathy with leukodystrophy due to DECR deficiency2 tests
  • Progressive external ophthalmoplegia1 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 17 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 25 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 37 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 46 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 56 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 18 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 23 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 32 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 51 test
  • Progressive familial heart block type IB3 tests
  • Progressive familial heart block, type 1A3 tests
  • Progressive familial intrahepatic cholestasis2 tests
  • Progressive familial intrahepatic cholestasis type 12 tests
  • Progressive familial intrahepatic cholestasis type 24 tests
  • Progressive familial intrahepatic cholestasis type 34 tests
  • Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome2 tests
  • Progressive myoclonic epilepsy type 34 tests
  • Progressive myoclonic epilepsy type 61 test
  • Progressive myoclonic epilepsy type 92 tests
  • Progressive myositis ossificans1 test
  • Progressive osseous heteroplasia5 tests
  • Progressive retinal dystrophy due to retinol transport defect2 tests
  • Progressive sclerosing poliodystrophy10 tests
  • Progressive supranuclear ophthalmoplegia2 tests
  • Progressive supranuclear palsy-parkinsonism syndrome1 test
  • Prolactin-producing pituitary gland adenoma1 test
  • Proliferative vitreoretinopathy3 tests
  • Propionic acidemia9 tests
  • Prostate cancer, hereditary, 21 test
  • Prostate cancer, hereditary, 91 test
  • Prostate cancer/brain cancer susceptibility1 test
  • Proteasome-associated autoinflammatory syndrome 14 tests
  • Proteasome-associated autoinflammatory syndrome 21 test
  • Proteasome-associated autoinflammatory syndrome 33 tests
  • Protein-losing enteropathy1 test
  • Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis2 tests
  • Proximal myopathy with extrapyramidal signs2 tests
  • Proximal symphalangism1 test
  • Proximal symphalangism 1A4 tests
  • PSAT deficiency1 test
  • Pseudo von Willebrand disease1 test
  • Pseudo-Hurler polydystrophy3 tests
  • Pseudo-TORCH syndrome1 test
  • Pseudo-TORCH syndrome 21 test
  • Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome2 tests
  • Pseudocholinesterase deficiency1 test
  • Pseudohyperaldosteronism type 21 test
  • Pseudohypoaldosteronism type 2B2 tests
  • Pseudohypoaldosteronism type 2C2 tests
  • Pseudohypoaldosteronism type 2D2 tests
  • Pseudohypoaldosteronism type 2E3 tests
  • Pseudohypoparathyroidism5 tests
  • Pseudohypoparathyroidism type 1B5 tests
  • Pseudohypoparathyroidism type 1C5 tests
  • Pseudohypoparathyroidism type I A1 test
  • Pseudopseudohypoparathyroidism4 tests
  • Pseudoxanthoma elasticum10 tests
  • Pseudoxanthoma elasticum, forme fruste6 tests
  • Psoriasis 22 tests
  • Pterin-4 alpha-carbinolamine dehydratase 1 deficiency4 tests
  • PULMONARY ALVEOLAR MICROLITHIASIS1 test
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 17 tests
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 25 tests
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 36 tests
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 45 tests
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 51 test
  • Pulmonary hypertension, neonatal, susceptibility to1 test
  • Pulmonary hypertension, primary, 13 tests
  • Pulmonary hypertension, primary, 21 test
  • Pulmonary hypertension, primary, 34 tests
  • Pulmonary hypertension, primary, 43 tests
  • Pulmonary venoocclusive disease 1, autosomal dominant2 tests
  • PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome3 tests
  • Purine-nucleoside phosphorylase deficiency2 tests
  • PYCR1-related de Barsy syndrome3 tests
  • Pyknodysostosis1 test
  • Pyogenic arthritis-pyoderma gangrenosum-acne syndrome1 test
  • Pyridoxal phosphate-responsive seizures3 tests
  • Pyridoxine-dependent epilepsy4 tests
  • Pyropoikilocytosis, hereditary2 tests
  • Pyruvate carboxylase deficiency8 tests
  • Pyruvate dehydrogenase E1-alpha deficiency8 tests
  • Pyruvate dehydrogenase E1-beta deficiency4 tests
  • Pyruvate dehydrogenase E2 deficiency4 tests
  • Pyruvate dehydrogenase E3 deficiency6 tests
  • Pyruvate dehydrogenase E3-binding protein deficiency4 tests
  • Pyruvate dehydrogenase phosphatase deficiency3 tests
  • Pyruvate kinase deficiency of red cells3 tests
  • Pyruvate kinase hyperactivity1 test
  • Quebec platelet disorder2 tests
  • RAB23-related Carpenter syndrome2 tests
  • Rabson-Mendenhall syndrome2 tests
  • Radial aplasia-thrombocytopenia syndrome8 tests
  • Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome2 tests
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 11 test
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 22 tests
  • Rafiq syndrome2 tests
  • Rahman syndrome1 test
  • Rapadilino syndrome6 tests
  • Rapp-Hodgkin ectodermal dysplasia syndrome7 tests
  • RASopathy1 test
  • RCBTB1-related retinopathy3 tests
  • Recessive dystrophic epidermolysis bullosa4 tests
  • Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome11 tests
  • Regressive spondylometaphyseal dysplasia4 tests
  • Reis-Bucklers' corneal dystrophy2 tests
  • Renal carnitine transport defect8 tests
  • Renal cell carcinoma2 tests
  • Renal coloboma syndrome5 tests
  • Renal cysts and diabetes syndrome14 tests
  • Renal dysplasia2 tests
  • Renal dysplasia and retinal aplasia1 test
  • Renal hypodysplasia/aplasia 12 tests
  • Renal hypodysplasia/aplasia 22 tests
  • Renal hypodysplasia/aplasia 33 tests
  • Renal hypomagnesemia 23 tests
  • Renal hypomagnesemia 41 test
  • Renal hypomagnesemia 5 with ocular involvement4 tests
  • Renal hypomagnesemia 61 test
  • Renal tubular acidosis1 test
  • Renal tubular acidosis with progressive nerve deafness4 tests
  • Renal tubular acidosis, distal, 4, with hemolytic anemia3 tests
  • Renal tubular dysgenesis7 tests
  • Renal-hepatic-pancreatic dysplasia 11 test
  • Renpenning syndrome6 tests
  • Reticular dysgenesis2 tests
  • Reticulate acropigmentation of Kitamura1 test
  • Retinal arterial tortuosity5 tests
  • Retinal cone dystrophy 3A4 tests
  • Retinal cone dystrophy 43 tests
  • Retinal dystrophy and obesity1 test
  • Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies2 tests
  • Retinal dystrophy with or without macular staphyloma2 tests
  • Retinal macular dystrophy type 22 tests
  • Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations4 tests
  • Retinitis pigmentosa5 tests
  • Retinitis pigmentosa 16 tests
  • Retinitis pigmentosa 103 tests
  • Retinitis pigmentosa 114 tests
  • Retinitis pigmentosa 126 tests
  • Retinitis pigmentosa 134 tests
  • Retinitis pigmentosa 145 tests
  • Retinitis pigmentosa 174 tests
  • Retinitis pigmentosa 183 tests
  • Retinitis pigmentosa 194 tests
  • Retinitis pigmentosa 23 tests
  • Retinitis pigmentosa 207 tests
  • Retinitis pigmentosa 233 tests
  • Retinitis pigmentosa 255 tests
  • Retinitis pigmentosa 265 tests
  • Retinitis pigmentosa 274 tests
  • Retinitis pigmentosa 284 tests
  • Retinitis pigmentosa 35 tests
  • Retinitis pigmentosa 303 tests
  • Retinitis pigmentosa 313 tests
  • Retinitis pigmentosa 334 tests
  • Retinitis pigmentosa 354 tests
  • Retinitis pigmentosa 363 tests
  • Retinitis pigmentosa 375 tests
  • Retinitis pigmentosa 384 tests
  • Retinitis pigmentosa 394 tests
  • Retinitis pigmentosa 46 tests
  • Retinitis pigmentosa 406 tests
  • Retinitis pigmentosa 414 tests
  • Retinitis pigmentosa 423 tests
  • Retinitis pigmentosa 434 tests
  • Retinitis pigmentosa 442 tests
  • Retinitis pigmentosa 453 tests
  • Retinitis pigmentosa 462 tests
  • Retinitis pigmentosa 474 tests
  • Retinitis pigmentosa 484 tests
  • Retinitis pigmentosa 494 tests
  • Retinitis pigmentosa 509 tests
  • Retinitis pigmentosa 513 tests
  • Retinitis pigmentosa 543 tests
  • Retinitis pigmentosa 552 tests
  • Retinitis pigmentosa 564 tests
  • Retinitis pigmentosa 572 tests
  • Retinitis pigmentosa 583 tests
  • Retinitis pigmentosa 594 tests
  • Retinitis pigmentosa 604 tests
  • Retinitis pigmentosa 613 tests
  • Retinitis pigmentosa 622 tests
  • Retinitis pigmentosa 665 tests
  • Retinitis pigmentosa 683 tests
  • Retinitis pigmentosa 691 test
  • Retinitis pigmentosa 76 tests
  • Retinitis pigmentosa 716 tests
  • Retinitis pigmentosa 722 tests
  • Retinitis pigmentosa 731 test
  • Retinitis pigmentosa 741 test
  • Retinitis pigmentosa 762 tests
  • Retinitis pigmentosa 772 tests
  • Retinitis pigmentosa 791 test
  • Retinitis pigmentosa 801 test
  • Retinitis pigmentosa 87 with choroidal involvement1 test
  • Retinitis pigmentosa and erythrocytic microcytosis1 test
  • Retinitis pigmentosa with or without situs inversus2 tests
  • Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness5 tests
  • Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome1 test
  • Retinoblastoma4 tests
  • Rett syndrome7 tests
  • Rett syndrome, congenital variant6 tests
  • Revesz syndrome3 tests
  • Reynolds syndrome3 tests
  • RFT1-congenital disorder of glycosylation1 test
  • Rh-null, regulator type1 test
  • Rhabdoid tumor predisposition syndrome 14 tests
  • Rhabdoid tumor predisposition syndrome 28 tests
  • Rhabdomyosarcoma, embryonal, 23 tests
  • Rheumatoid arthritis2 tests
  • Rhizomelic chondrodysplasia punctata type 17 tests
  • Rhizomelic chondrodysplasia punctata type 25 tests
  • Rhizomelic chondrodysplasia punctata type 34 tests
  • Rhizomelic chondrodysplasia punctata type 54 tests
  • Rhizomelic limb shortening with dysmorphic features1 test
  • RHYNS syndrome1 test
  • Rienhoff syndrome10 tests
  • Right atrial isomerism1 test
  • RIN2 syndrome5 tests
  • Ring dermoid of cornea6 tests
  • Rippling muscle disease2 tests
  • Rippling muscle disease 23 tests
  • Ritscher-Schinzel syndrome 12 tests
  • Ritscher-Schinzel syndrome 21 test
  • Roberts-SC phocomelia syndrome12 tests
  • Robinow syndrome3 tests
  • Robinow-Sorauf syndrome6 tests
  • Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked1 test
  • Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome3 tests
  • Rothmund-Thomson syndrome5 tests
  • Rothmund-Thomson syndrome type 24 tests
  • Rotor syndrome4 tests
  • Rubinstein-Taybi syndrome8 tests
  • Rubinstein-Taybi syndrome due to CREBBP mutations5 tests
  • Rubinstein-Taybi syndrome due to EP300 haploinsufficiency9 tests
  • Saethre-Chotzen syndrome12 tests
  • Saldino-Mainzer syndrome4 tests
  • Salla disease3 tests
  • Sandestig-stefanova syndrome1 test
  • Sandhoff disease2 tests
  • Sarcotubular myopathy2 tests
  • Scalp-ear-nipple syndrome3 tests
  • Scapuloperoneal spinal muscular atrophy3 tests
  • Schaaf-Yang syndrome3 tests
  • SchC6pf-Schulz-Passarge syndrome2 tests
  • Schimke immuno-osseous dysplasia3 tests
  • Schinzel phocomelia syndrome6 tests
  • Schinzel-Giedion syndrome6 tests
  • Schizencephaly3 tests
  • Schizophrenia2 tests
  • Schizophrenia 153 tests
  • Schizophrenia 91 test
  • Schnyder crystalline corneal dystrophy2 tests
  • Schuurs-Hoeijmakers syndrome4 tests
  • Schwannomatosis 14 tests
  • Schwannomatosis 25 tests
  • Schwartz-Jampel syndrome1 test
  • Sclerosteosis 12 tests
  • Sclerosteosis 23 tests
  • SCOTT SYNDROME3 tests
  • Seckel syndrome1 test
  • Seckel syndrome 23 tests
  • Seckel syndrome 41 test
  • Seckel syndrome 51 test
  • Seckel syndrome 82 tests
  • Seckel syndrome 93 tests
  • Seizure1 test
  • Seizures, benign familial infantile, 24 tests
  • Seizures, benign familial infantile, 34 tests
  • Seizures, benign familial infantile, 52 tests
  • Seizures, benign familial neonatal, 12 tests
  • Seizures, benign familial neonatal, 23 tests
  • Selective pituitary resistance to thyroid hormone2 tests
  • Sengers syndrome8 tests
  • Senior-Loken syndrome 12 tests
  • Senior-Loken syndrome 42 tests
  • Senior-Loken syndrome 56 tests
  • Senior-Loken syndrome 67 tests
  • Senior-Loken syndrome 76 tests
  • Senior-Loken syndrome 81 test
  • Senior-Loken syndrome 91 test
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis9 tests
  • Septo-optic dysplasia sequence9 tests
  • SERKAL syndrome2 tests
  • Severe achondroplasia-developmental delay-acanthosis nigricans syndrome8 tests
  • Severe combined immunodeficiency disease2 tests
  • Severe combined immunodeficiency due to CARD11 deficiency1 test
  • Severe combined immunodeficiency due to CARMIL2 deficiency1 test
  • Severe combined immunodeficiency due to CORO1A deficiency1 test
  • Severe combined immunodeficiency due to DCLRE1C deficiency3 tests
  • Severe combined immunodeficiency due to DNA-PKcs deficiency1 test
  • Severe combined immunodeficiency due to LAT deficiency1 test
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency6 tests
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive5 tests
  • Severe early-childhood-onset retinal dystrophy5 tests
  • Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency1 test
  • Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome3 tests
  • Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome1 test
  • Severe intellectual disability-progressive spastic diplegia syndrome2 tests
  • Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome1 test
  • Severe myoclonic epilepsy in infancy6 tests
  • Severe neonatal-onset encephalopathy with microcephaly4 tests
  • Severe neurodegenerative syndrome with lipodystrophy2 tests
  • Severe X-linked mitochondrial encephalomyopathy5 tests
  • Severe X-linked myotubular myopathy4 tests
  • Shashi-Pena syndrome2 tests
  • Short QT syndrome type 14 tests
  • Short QT syndrome type 25 tests
  • Short QT syndrome type 35 tests
  • Short stature due to partial GHR deficiency1 test
  • Short stature with microcephaly and distinctive facies2 tests
  • Short stature with nonspecific skeletal abnormalities1 test
  • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies2 tests
  • Short stature, microcephaly, and endocrine dysfunction1 test
  • Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome1 test
  • Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome1 test
  • Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome7 tests
  • Short stature-pituitary and cerebellar defects-small sella turcica syndrome8 tests
  • SHORT syndrome4 tests
  • Short-rib thoracic dysplasia 10 with or without polydactyly7 tests
  • Short-rib thoracic dysplasia 11 with or without polydactyly1 test
  • Short-rib thoracic dysplasia 13 with or without polydactyly3 tests
  • Short-rib thoracic dysplasia 14 with polydactyly4 tests
  • Short-rib thoracic dysplasia 15 with polydactyly2 tests
  • Short-rib thoracic dysplasia 16 with or without polydactyly2 tests
  • Short-rib thoracic dysplasia 17 with or without polydactyly2 tests
  • Short-rib thoracic dysplasia 18 with polydactyly2 tests
  • Short-rib thoracic dysplasia 19 with or without polydactyly2 tests
  • Short-rib thoracic dysplasia 20 with polydactyly3 tests
  • Short-rib thoracic dysplasia 6 with or without polydactyly7 tests
  • Short-rib thoracic dysplasia 7 with or without polydactyly9 tests
  • Short-rib thoracic dysplasia 8 with or without polydactyly6 tests
  • SHOX-related short stature1 test
  • Shprintzen-Goldberg syndrome6 tests
  • Shwachman syndrome1 test
  • Shwachman-Diamond syndrome 13 tests
  • Shwachman-Diamond syndrome 21 test
  • Sialic acid storage disease, severe infantile type4 tests
  • Sialidosis type 23 tests
  • Sialuria4 tests
  • Sick sinus syndrome 12 tests
  • Sick sinus syndrome 2, autosomal dominant6 tests
  • Sick sinus syndrome 3, susceptibility to2 tests
  • Sideroblastic anemia 22 tests
  • Sideroblastic anemia 33 tests
  • Sifrim-Hitz-Weiss syndrome4 tests
  • Silver-Russell syndrome 31 test
  • Simpson-Golabi-Behmel syndrome type 113 tests
  • Simpson-Golabi-Behmel syndrome type 26 tests
  • SIN3A-related intellectual disability syndrome due to a point mutation2 tests
  • Singleton-Merten syndrome 13 tests
  • Sinoatrial node dysfunction and deafness1 test
  • Sitosterolemia6 tests
  • Sitosterolemia 12 tests
  • Sitosterolemia 22 tests
  • Sjögren-Larsson syndrome2 tests
  • Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome3 tests
  • Skin creases, congenital symmetric circumferential, 21 test
  • Skin fragility-woolly hair-palmoplantar keratoderma syndrome3 tests
  • SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN3 tests
  • SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN1 test
  • Skin/hair/eye pigmentation, variation in, 12 tests
  • Skin/hair/eye pigmentation, variation in, 22 tests
  • Skin/hair/eye pigmentation, variation in, 41 test
  • Skraban-Deardorff syndrome1 test
  • SLC35A1-congenital disorder of glycosylation1 test
  • SLC35A2-congenital disorder of glycosylation4 tests
  • SLC39A8-CDG1 test
  • Smith-Lemli-Opitz syndrome18 tests
  • Smith-Magenis syndrome6 tests
  • Smith-McCort dysplasia1 test
  • Smith-McCort dysplasia 11 test
  • Sneddon syndrome2 tests
  • Snijders Blok-Campeau syndrome2 tests
  • Snowflake vitreoretinal degeneration2 tests
  • Solitary median maxillary central incisor syndrome6 tests
  • Somatotroph adenoma2 tests
  • Sorsby fundus dystrophy2 tests
  • Sotos syndrome1 test
  • Sotos syndrome 14 tests
  • Southeast Asian ovalocytosis1 test
  • Spastic ataxia 13 tests
  • Spastic ataxia 23 tests
  • Spastic ataxia 32 tests
  • Spastic ataxia 43 tests
  • Spastic ataxia 53 tests
  • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy2 tests
  • Spastic paraplegia 52, autosomal recessive3 tests
  • Spastic paraplegia 80, autosomal dominant2 tests
  • Spastic paraplegia, intellectual disability, nystagmus, and obesity;3 tests
  • Spastic paraplegia-severe developmental delay-epilepsy syndrome4 tests
  • Spasticity-ataxia-gait anomalies syndrome3 tests
  • Specific granule deficiency 22 tests
  • Spermatogenic failure 102 tests
  • Spermatogenic failure 112 tests
  • Spermatogenic failure 122 tests
  • Spermatogenic failure 132 tests
  • Spermatogenic failure 142 tests
  • Spermatogenic failure 153 tests
  • Spermatogenic failure 162 tests
  • Spermatogenic failure 172 tests
  • Spermatogenic failure 181 test
  • Spermatogenic failure 192 tests
  • Spermatogenic failure 202 tests
  • Spermatogenic failure 212 tests
  • Spermatogenic failure 232 tests
  • Spermatogenic failure 242 tests
  • Spermatogenic failure 252 tests
  • Spermatogenic failure 271 test
  • Spermatogenic failure 284 tests
  • Spermatogenic failure 32 tests
  • Spermatogenic failure 312 tests
  • Spermatogenic failure 321 test
  • Spermatogenic failure 332 tests
  • Spermatogenic failure 342 tests
  • Spermatogenic failure 352 tests
  • Spermatogenic failure 362 tests
  • Spermatogenic failure 372 tests
  • Spermatogenic failure 382 tests
  • Spermatogenic failure 392 tests
  • Spermatogenic failure 42 tests
  • Spermatogenic failure 402 tests
  • Spermatogenic failure 412 tests
  • Spermatogenic failure 422 tests
  • Spermatogenic failure 435 tests
  • Spermatogenic failure 442 tests
  • Spermatogenic failure 452 tests
  • Spermatogenic failure 462 tests
  • Spermatogenic failure 473 tests
  • Spermatogenic failure 482 tests
  • Spermatogenic failure 492 tests
  • Spermatogenic failure 512 tests
  • Spermatogenic failure 522 tests
  • Spermatogenic failure 532 tests
  • Spermatogenic failure 562 tests
  • Spermatogenic failure 572 tests
  • Spermatogenic failure 73 tests
  • Spermatogenic failure 85 tests
  • Spermatogenic failure 92 tests
  • Spermatogenic failure, X-linked, 22 tests
  • Spermatogenic failure, X-linked, 32 tests
  • Spermatogenic failure, Y-linked, 11 test
  • Spermatogenic failure, Y-linked, 21 test
  • Spermatogenic failures 501 test
  • Spheroid body myopathy2 tests
  • Sphingolipid activator protein 1 deficiency5 tests
  • Spinal muscular atrophy with congenital bone fractures 13 tests
  • Spinal muscular atrophy with congenital bone fractures 21 test
  • Spinal muscular atrophy, distal, autosomal recessive, 61 test
  • Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant1 test
  • Spinal muscular atrophy, type II1 test
  • Spinal muscular atrophy, type IV1 test
  • Spinal muscular atrophy-progressive myoclonic epilepsy syndrome2 tests
  • Spinocerebellar ataxia 461 test
  • Spinocerebellar ataxia type 111 test
  • Spinocerebellar ataxia type 142 tests
  • Spinocerebellar ataxia type 15/164 tests
  • Spinocerebellar ataxia type 171 test
  • Spinocerebellar ataxia type 19/221 test
  • Spinocerebellar ataxia type 23 tests
  • Spinocerebellar ataxia type 211 test
  • Spinocerebellar ataxia type 271 test
  • Spinocerebellar ataxia type 282 tests
  • Spinocerebellar ataxia type 294 tests
  • Spinocerebellar ataxia type 341 test
  • Spinocerebellar ataxia type 351 test
  • Spinocerebellar ataxia type 411 test
  • Spinocerebellar ataxia type 51 test
  • Spinocerebellar ataxia type 64 tests
  • Spinocerebellar ataxia, autosomal recessive 251 test
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 28 tests
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 31 test
  • Splenomegaly1 test
  • Split hand-foot malformation 12 tests
  • Split hand-foot malformation 1 with sensorineural hearing loss3 tests
  • Split hand-foot malformation 45 tests
  • Split hand-foot malformation 62 tests
  • Split-foot malformation-mesoaxial polydactyly syndrome3 tests
  • Spondylo-ocular syndrome6 tests
  • Spondylocarpotarsal synostosis syndrome2 tests
  • Spondylocostal dysostosis2 tests
  • Spondylocostal dysostosis 1, autosomal recessive2 tests
  • Spondylocostal dysostosis 2, autosomal recessive3 tests
  • Spondylocostal dysostosis 3, autosomal recessive3 tests
  • Spondylocostal dysostosis 4, autosomal recessive3 tests
  • Spondylocostal dysostosis 53 tests
  • Spondylocostal dysostosis 6, autosomal recessive3 tests
  • Spondyloenchondrodysplasia with immune dysregulation2 tests
  • Spondyloepimetaphyseal dysplasia with joint laxity1 test
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures1 test
  • Spondyloepimetaphyseal dysplasia with multiple dislocations1 test
  • Spondyloepimetaphyseal dysplasia, Bieganski type1 test
  • Spondyloepimetaphyseal dysplasia, di rocco type1 test
  • Spondyloepimetaphyseal dysplasia, Maroteaux type1 test
  • Spondyloepimetaphyseal dysplasia, matrilin-3 type1 test
  • Spondyloepimetaphyseal dysplasia, Missouri type1 test
  • Spondyloepimetaphyseal dysplasia, PAPSS2 type3 tests
  • Spondyloepimetaphyseal dysplasia, Strudwick type6 tests
  • Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome2 tests
  • Spondyloepiphyseal dysplasia congenita12 tests
  • Spondyloepiphyseal dysplasia tarda1 test
  • Spondyloepiphyseal dysplasia with congenital joint dislocations2 tests
  • Spondyloepiphyseal dysplasia, Stanescu type10 tests
  • Spondylometaphyseal dysplasia6 tests
  • Spondylometaphyseal dysplasia, Kozlowski type1 test
  • Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome2 tests
  • Spondyloperipheral dysplasia12 tests
  • Spongy degeneration of central nervous system4 tests
  • Squalene synthase deficiency4 tests
  • SRD5A3-congenital disorder of glycosylation2 tests
  • SSR4-congenital disorder of glycosylation2 tests
  • Stankiewicz-Isidor syndrome1 test
  • Stapes ankylosis with broad thumbs and toes5 tests
  • Stargardt disease2 tests
  • Stargardt disease 34 tests
  • Stargardt disease 44 tests
  • STAT3-related early-onset multisystem autoimmune disease5 tests
  • Sterol carrier protein 2 deficiency4 tests
  • Stickler syndrome2 tests
  • Stickler syndrome type 113 tests
  • Stickler syndrome type 210 tests
  • Stickler syndrome, type 47 tests
  • Stickler syndrome, type 57 tests
  • Stickler syndrome, type I, nonsyndromic ocular15 tests
  • Stiff skin syndrome11 tests
  • Stormorken syndrome4 tests
  • Striatal degeneration, autosomal dominant 21 test
  • Stroke, susceptibility to, 11 test
  • Stromme syndrome5 tests
  • STT3A-congenital disorder of glycosylation1 test
  • STT3B-congenital disorder of glycosylation1 test
  • Stuttering, familial persistent, 11 test
  • Stuttering, familial persistent, 24 tests
  • Stuve-Wiedemann syndrome1 test
  • Succinate-semialdehyde dehydrogenase deficiency2 tests
  • Succinyl-CoA acetoacetate transferase deficiency4 tests
  • Sucrase-isomaltase deficiency1 test
  • Sudden cardiac failure, alcohol-induced1 test
  • Sudden cardiac failure, infantile1 test
  • SUDDEN INFANT DEATH SYNDROME2 tests
  • Sudden infant death-dysgenesis of the testes syndrome3 tests
  • Sulfide quinone oxidoreductase deficiency1 test
  • Sulfite oxidase deficiency3 tests
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A3 tests
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B2 tests
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C2 tests
  • Supravalvar aortic stenosis6 tests
  • Surfactant metabolism dysfunction, pulmonary, 24 tests
  • Surfactant metabolism dysfunction, pulmonary, 52 tests
  • Susceptibility to HIV infection2 tests
  • Sweeney-Cox syndrome5 tests
  • Symphalangism, proximal, 1B3 tests
  • Symphalangism-brachydactyly syndrome5 tests
  • Syndactyly type 34 tests
  • Syndactyly type 43 tests
  • Syndactyly type 56 tests
  • Syndactyly type 82 tests
  • Syndactyly-telecanthus-anogenital and renal malformations syndrome5 tests
  • Syndromic microphthalmia type 58 tests
  • Syndromic multisystem autoimmune disease due to ITCH deficiency2 tests
  • Syndromic X-linked intellectual disability 144 tests
  • Syndromic X-linked intellectual disability 342 tests
  • Syndromic X-linked intellectual disability 941 test
  • Syndromic X-linked intellectual disability Claes-Jensen type5 tests
  • Syndromic X-linked intellectual disability Hedera type2 tests
  • Syndromic X-linked intellectual disability Lubs type4 tests
  • Syndromic X-linked intellectual disability Najm type6 tests
  • Syndromic X-linked intellectual disability Nascimento type2 tests
  • Syndromic X-linked intellectual disability Raymond type1 test
  • Syndromic X-linked intellectual disability Siderius type2 tests
  • Syndromic X-linked intellectual disability Snyder type6 tests
  • Synpolydactyly type 17 tests
  • Synpolydactyly type 25 tests
  • Systemic lupus erythematosus3 tests
  • Systemic lupus erythematosus, susceptibility to, 92 tests
  • T-B+ severe combined immunodeficiency due to JAK3 deficiency1 test
  • Tall stature-intellectual disability-facial dysmorphism syndrome4 tests
  • Tall stature-intellectual disability-renal anomalies syndrome1 test
  • Tall stature-scoliosis-macrodactyly of the great toes syndrome2 tests
  • Tangier disease1 test
  • TARP syndrome2 tests
  • Tarsal-carpal coalition syndrome5 tests
  • Tay-Sachs disease4 tests
  • Tay-Sachs disease, variant AB2 tests
  • TCF12-related craniosynostosis5 tests
  • Teebi hypertelorism syndrome2 tests
  • Telangiectasia, hereditary hemorrhagic, type 12 tests
  • Telangiectasia, hereditary hemorrhagic, type 24 tests
  • Telangiectasia, hereditary hemorrhagic, type 53 tests
  • Temple-Baraitser syndrome3 tests
  • Temtamy preaxial brachydactyly syndrome4 tests
  • Temtamy syndrome4 tests
  • Tenorio syndrome3 tests
  • Terminal osseous dysplasia-pigmentary defects syndrome11 tests
  • Testicular anomalies with or without congenital heart disease9 tests
  • Testosterone 17-beta-dehydrogenase deficiency7 tests
  • Tetraamelia syndrome 11 test
  • Tetraamelia syndrome 21 test
  • Tetralogy of Fallot19 tests
  • Thanatophoric dysplasia type 113 tests
  • Thanatophoric dysplasia, type 213 tests
  • Thiel-Behnke corneal dystrophy2 tests
  • Thrombocythemia 12 tests
  • Thrombocythemia 22 tests
  • Thrombocythemia 32 tests
  • Thrombocytopenia 15 tests
  • Thrombocytopenia 29 tests
  • Thrombocytopenia 31 test
  • Thrombocytopenia 44 tests
  • Thrombocytopenia 56 tests
  • Thrombocytopenia, anemia, and myelofibrosis1 test
  • Thrombocytopenia, X-linked, with or without dyserythropoietic anemia3 tests
  • Thrombophilia due to activated protein C resistance1 test
  • Thrombophilia due to protein C deficiency, autosomal dominant2 tests
  • Thrombophilia due to protein C deficiency, autosomal recessive2 tests
  • Thrombophilia due to protein S deficiency, autosomal dominant2 tests
  • Thrombophilia due to protein S deficiency, autosomal recessive2 tests
  • Thrombophilia due to thrombin defect2 tests
  • Thrombophilia, familial, due to decreased release of tissue plasminogen activator1 test
  • Thromboxane synthetase deficiency2 tests
  • Thyroglobulin synthesis defect2 tests
  • Thyroid cancer, nonmedullary, 11 test
  • Thyroid cancer, nonmedullary, 26 tests
  • Thyroid cancer, nonmedullary, 51 test
  • Thyroid dyshormonogenesis 63 tests
  • Thyroid hormone metabolism, abnormal 12 tests
  • Thyroid hormone resistance syndrome1 test
  • Thyroid hormone resistance, generalized, autosomal dominant2 tests
  • Thyroid hormone resistance, generalized, autosomal recessive2 tests
  • Thyrotoxic periodic paralysis, susceptibility to, 11 test
  • Tibia, hypoplasia or aplasia of, with polydactyly3 tests
  • Tibial muscular dystrophy3 tests
  • Tietz syndrome4 tests
  • Timothy syndrome8 tests
  • TMEM165-congenital disorder of glycosylation1 test
  • TMEM199-CDG1 test
  • TNF receptor-associated periodic fever syndrome (TRAPS)5 tests
  • Tooth agenesis, selective, 14 tests
  • Tooth agenesis, selective, 33 tests
  • Tooth agenesis, selective, 43 tests
  • Tooth agenesis, selective, 81 test
  • Tooth agenesis, selective, X-linked, 13 tests
  • Toriello-Lacassie-Droste syndrome6 tests
  • Torsion dystonia 44 tests
  • Torsion dystonia 62 tests
  • Townes-Brocks syndrome 111 tests
  • Townes-Brocks syndrome 21 test
  • Transcobalamin II deficiency4 tests
  • Transient bullous dermolysis of the newborn4 tests
  • Transient infantile hypertriglyceridemia and hepatosteatosis1 test
  • Transposition of the great arteries, dextro-looped4 tests
  • Treacher Collins syndrome 16 tests
  • Treacher Collins syndrome 25 tests
  • Treacher Collins syndrome 35 tests
  • Tremor, hereditary essential, 51 test
  • Tricho-dento-osseous syndrome1 test
  • Trichoepithelioma, multiple familial, 11 test
  • Trichohepatoenteric syndrome 13 tests
  • Trichohepatoenteric syndrome 21 test
  • Trichorhinophalangeal dysplasia type I1 test
  • Trichorhinophalangeal syndrome, type III1 test
  • Trichothiodystrophy 1, photosensitive3 tests
  • Trichothiodystrophy 2, photosensitive1 test
  • Trichothiodystrophy 5, nonphotosensitive2 tests
  • Triglyceride storage disease with ichthyosis3 tests
  • Trigonocephaly 17 tests
  • Trigonocephaly 24 tests
  • Trimethylaminuria1 test
  • Triosephosphate isomerase deficiency2 tests
  • Tropical pancreatitis2 tests
  • Troyer syndrome4 tests
  • Tuberous sclerosis 111 tests
  • Tuberous sclerosis 212 tests
  • Tubulointerstitial kidney disease, autosomal dominant, 22 tests
  • Tumoral calcinosis, hyperphosphatemic, familial, 12 tests
  • Tumoral calcinosis, hyperphosphatemic, familial, 31 test
  • Turcot syndrome13 tests
  • TWIST1-related craniosynostosis9 tests
  • Type 1 diabetes mellitus 102 tests
  • Type 1 diabetes mellitus 122 tests
  • Type 1 diabetes mellitus 21 test
  • Type 1 diabetes mellitus 201 test
  • Type 2 diabetes mellitus14 tests
  • Tyrosinase-positive oculocutaneous albinism4 tests
  • Tyrosinemia type I4 tests
  • Tyrosinemia type II2 tests
  • Tyrosinemia type III2 tests
  • UDPglucose-4-epimerase deficiency2 tests
  • Ullrich congenital muscular dystrophy 19 tests
  • Ullrich congenital muscular dystrophy 26 tests
  • Ulnar-mammary syndrome5 tests
  • Unverricht-Lundborg syndrome1 test
  • Upshaw-Schulman syndrome4 tests
  • Urofacial syndrome 21 test
  • Usher syndrome1 test
  • Usher syndrome type 13 tests
  • Usher syndrome type 1C3 tests
  • Usher syndrome type 1D4 tests
  • Usher syndrome type 1F3 tests
  • Usher syndrome type 1G3 tests
  • Usher syndrome type 1J3 tests
  • Usher syndrome type 2A4 tests
  • Usher syndrome type 2C4 tests
  • Usher syndrome type 2D3 tests
  • Usher syndrome type 33 tests
  • Usher syndrome type 3B1 test
  • Usher syndrome, type 42 tests
  • UV-sensitive syndrome1 test
  • Uveal coloboma-cleft lip and palate-intellectual disability2 tests
  • Uveal melanoma1 test
  • VACTERL association, X-linked, with or without hydrocephalus4 tests
  • VACTERL with hydrocephalus2 tests
  • Van Buchem disease type 21 test
  • Van der Woude syndrome 18 tests
  • Van der Woude syndrome 23 tests
  • Van Maldergem syndrome 12 tests
  • Van Maldergem syndrome 26 tests
  • Vanishing white matter disease12 tests
  • Variegate porphyria4 tests
  • Vas deferens, congenital bilateral aplasia of, X-linked2 tests
  • Vasculitis due to ADA2 deficiency2 tests
  • VATER association1 test
  • Velocardiofacial syndrome7 tests
  • Ventricular fibrillation, paroxysmal familial, 22 tests
  • Ventricular fibrillation, paroxysmal familial, type 11 test
  • Ventricular septal defect 17 tests
  • Ventricular septal defect 21 test
  • Ventricular septal defect 36 tests
  • Ventriculomegaly-cystic kidney disease3 tests
  • Vertebral, cardiac, renal, and limb defects syndrome 11 test
  • Vertebral, cardiac, renal, and limb defects syndrome 21 test
  • Vertebral, cardiac, renal, and limb defects syndrome 31 test
  • Very long chain acyl-CoA dehydrogenase deficiency6 tests
  • Vesicoureteral reflux 21 test
  • Vesicoureteral reflux 31 test
  • Vesicoureteral reflux 83 tests
  • Vici syndrome6 tests
  • Visceral heterotaxy1 test
  • Visceral myopathy1 test
  • Visceral neuropathy, familial, 1, autosomal recessive1 test
  • VISS SYNDROME1 test
  • Vissers-Bodmer syndrome1 test
  • Vitamin D hydroxylation-deficient rickets, type 1B3 tests
  • Vitamin D-dependent rickets type II with alopecia4 tests
  • Vitamin D-dependent rickets, type 12 tests
  • Vitamin D-dependent rickets, type 1A1 test
  • Vitamin K-dependent clotting factors, combined deficiency of, type 22 tests
  • Vitelliform macular dystrophy6 tests
  • Vitelliform macular dystrophy 21 test
  • Vitelliform macular dystrophy 31 test
  • Vitelliform macular dystrophy 44 tests
  • Vitelliform macular dystrophy 51 test
  • Vitreoretinopathy with phalangeal epiphyseal dysplasia1 test
  • Von Hippel-Lindau syndrome8 tests
  • von Willebrand disease type 13 tests
  • von Willebrand disease type 23 tests
  • von Willebrand disease type 33 tests
  • Waardenburg syndrome type 17 tests
  • Waardenburg syndrome type 2A6 tests
  • Waardenburg syndrome type 2D4 tests
  • Waardenburg syndrome type 2E6 tests
  • Waardenburg syndrome type 37 tests
  • Waardenburg syndrome type 4A6 tests
  • Waardenburg syndrome type 4B6 tests
  • Waardenburg syndrome type 4C5 tests
  • Wagner syndrome5 tests
  • Walker-Warburg congenital muscular dystrophy2 tests
  • Warburg micro syndrome1 test
  • Warburg micro syndrome 16 tests
  • Warburg micro syndrome 25 tests
  • Warburg micro syndrome 34 tests
  • Warburg micro syndrome 45 tests
  • Warts, hypogammaglobulinemia, infections, and myelokathexis3 tests
  • Weaver syndrome2 tests
  • Weill-Marchesani 4 syndrome, recessive1 test
  • Weill-Marchesani syndrome 14 tests
  • Weill-Marchesani syndrome 2, dominant14 tests
  • Weill-Marchesani syndrome 36 tests
  • Weiss-kruszka syndrome1 test
  • Welander distal myopathy3 tests
  • Werdnig-Hoffmann disease1 test
  • Werner syndrome4 tests
  • Wieacker-Wolff syndrome3 tests
  • Wiedemann-Steiner syndrome8 tests
  • Williams syndrome1 test
  • Wilms tumor 117 tests
  • Wilms tumor 51 test
  • Wilms tumor 64 tests
  • Wilson disease4 tests
  • Wilson-Turner syndrome3 tests
  • Winchester syndrome1 test
  • Wiskott-Aldrich syndrome7 tests
  • Wiskott-Aldrich syndrome 22 tests
  • Wolcott-Rallison dysplasia1 test
  • Wolff-Parkinson-White pattern4 tests
  • Wolfram syndrome2 tests
  • Wolfram syndrome 16 tests
  • Wolfram syndrome 25 tests
  • Wolfram-like syndrome7 tests
  • Woodhouse-Sakati syndrome5 tests
  • Woolly hair-palmoplantar keratoderma syndrome2 tests
  • Worth disease3 tests
  • Wrinkly skin syndrome6 tests
  • X-linked agammaglobulinemia6 tests
  • X-linked agammaglobulinemia with growth hormone deficiency3 tests
  • X-linked Alport syndrome4 tests
  • X-linked central congenital hypothyroidism with late-onset testicular enlargement2 tests
  • X-linked chondrodysplasia punctata 12 tests
  • X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome3 tests
  • X-linked complicated corpus callosum dysgenesis2 tests
  • X-linked cone-rod dystrophy 15 tests
  • X-linked cone-rod dystrophy 34 tests
  • X-linked congenital hemolytic anemia1 test
  • X-linked distal spinal muscular atrophy type 36 tests
  • X-linked dominant chondrodysplasia, Chassaing-Lacombe type2 tests
  • X-linked dyserythropoetic anemia with abnormal platelets and neutropenia4 tests
  • X-linked dystonia-parkinsonism4 tests
  • X-linked Emery-Dreifuss muscular dystrophy6 tests
  • X-linked epilepsy-learning disabilities-behavior disorders syndrome2 tests
  • X-linked erythropoietic protoporphyria5 tests
  • X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome1 test
  • X-linked hydrocephalus syndrome3 tests
  • X-linked ichthyosis with steryl-sulfatase deficiency1 test
  • X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia4 tests
  • X-linked intellectual disability Cabezas type4 tests
  • X-linked intellectual disability with marfanoid habitus11 tests
  • X-linked intellectual disability, Cantagrel type2 tests
  • X-linked intellectual disability, Stocco dos Santos type2 tests
  • X-linked intellectual disability-cerebellar hypoplasia syndrome7 tests
  • X-linked intellectual disability-psychosis-macroorchidism syndrome4 tests
  • X-linked intellectual disability-short stature-overweight syndrome1 test
  • X-linked lissencephaly with abnormal genitalia10 tests
  • X-linked lymphoproliferative disease due to SH2D1A deficiency8 tests
  • X-linked lymphoproliferative disease due to XIAP deficiency5 tests
  • X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency2 tests
  • X-linked mixed hearing loss with perilymphatic gusher2 tests
  • X-linked myopathy with excessive autophagy2 tests
  • X-linked myopathy with postural muscle atrophy5 tests
  • X-linked Opitz G/BBB syndrome10 tests
  • X-linked parkinsonism-spasticity syndrome3 tests
  • X-linked recessive nephrolithiasis with renal failure3 tests
  • X-linked reticulate pigmentary disorder1 test
  • X-linked scapuloperoneal muscular dystrophy3 tests
  • X-linked severe combined immunodeficiency6 tests
  • X-linked severe congenital neutropenia4 tests
  • X-linked sideroblastic anemia 13 tests
  • X-linked sideroblastic anemia with ataxia2 tests
  • X-linked spondyloepimetaphyseal dysplasia3 tests
  • Xanthinuria type II1 test
  • Xeroderma pigmentosum group A3 tests
  • Xeroderma pigmentosum group B3 tests
  • Xeroderma pigmentosum variant type3 tests
  • Xeroderma pigmentosum, group C3 tests
  • Xeroderma pigmentosum, group D3 tests
  • Xeroderma pigmentosum, group E3 tests
  • Xeroderma pigmentosum, group F6 tests
  • Xeroderma pigmentosum, group G3 tests
  • XFE progeroid syndrome6 tests
  • Yao syndrome1 test
  • Yoon-Bellen neurodevelopmental syndrome1 test
  • Young adult-onset distal hereditary motor neuropathy3 tests
  • Yunis-Varon syndrome7 tests
  • Zellweger spectrum disorders9 tests
  • Zimmermann-Laband syndrome 13 tests
  • ZTTK syndrome2 tests

List of services

  • Prenatal testing
  • Custom Sequence Analysis
  • Data Storage and Backup
  • Genetic counseling
  • Insurance billing
  • Result interpretation
  • Clinical Testing/Confirmation of Mutations Identified Previously: Order Code: 100,200,300
  • Confirmation of research findings: Order Code: 100,200,300
  • Carrier testing: Order Code: 100,200,300
  • Mutation Confirmation: Order Code: 100,200,300
  • DNA Banking: Order Code: 500
  • Custom Deletion/Duplication Testing: Order Code: 600
  • Custom microarray analysis: Order Code: 600
  • Maternal cell contamination study (MCC): Order Code: 800

List of certifications/licenses

Certifications

  • CLIAHelp, Number: 52D2065132, Expiration date: 2024-04-01
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Licenses

  • CA - California Department of Public Health CDPH, Number: COS 00800542, Expiration date: 2023-10-06
  • MD - Maryland Department of Health and Mental Hygiene DHMH, Number: 1303, Effective date: 2018-10-08 Non-expiring
  • PA - Pennsylvania Department of Health PADOH, Number: 33884, Expiration date: 2023-08-15
  • RI - State of Rhode Island Department of Health RIDOH, Number: LCO00694, Expiration date: 2023-12-30

Participation in external programs

Standardization programs

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Data exchange Programs

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IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.