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GTR Home > Laboratories > Unilabs Genetics

Unilabs Genetics

GTR Lab ID: 202248, Last updated:2022-10-26

Personnel

Conditions and tests

  • 11p partial monosomy syndrome20 tests
  • 2-aminoadipic 2-oxoadipic aciduria3 tests
  • 2-hydroxyglutaric aciduria2 tests
  • 3 beta-Hydroxysteroid dehydrogenase deficiency3 tests
  • 3-hydroxy-3-methylglutaryl-CoA synthase deficiency2 tests
  • 3-methylcrotonyl-CoA carboxylase 1 deficiency2 tests
  • 3-methylcrotonyl-CoA carboxylase 2 deficiency2 tests
  • 3-methylglutaconic aciduria type 15 tests
  • 3-Methylglutaconic aciduria type 28 tests
  • 3-Methylglutaconic aciduria type 314 tests
  • 3-methylglutaconic aciduria type 55 tests
  • 3-methylglutaconic aciduria type 87 tests
  • 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia3 tests
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome7 tests
  • 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency4 tests
  • 3M syndrome 12 tests
  • 3M syndrome 22 tests
  • 3M syndrome 31 test
  • 3MC syndrome 13 tests
  • 3MC syndrome 23 tests
  • 3MC syndrome 31 test
  • 46,XX ovarian dysgenesis-short stature syndrome1 test
  • 46,XX sex reversal 16 tests
  • 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency2 tests
  • 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome3 tests
  • 46,XY sex reversal 17 tests
  • 46,XY sex reversal 25 tests
  • 46,XY sex reversal 36 tests
  • 46,XY sex reversal 52 tests
  • 46,XY sex reversal 63 tests
  • 46,XY sex reversal 73 tests
  • 46,XY sex reversal 91 test
  • 4p partial monosomy syndrome1 test
  • 5p partial monosomy syndrome1 test
  • 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency3 tests
  • Aarskog syndrome4 tests
  • ABCD syndrome5 tests
  • Abetalipoproteinaemia6 tests
  • Ablepharon macrostomia syndrome2 tests
  • Abnormal circulating lipid concentration1 test
  • Abnormal testis morphology1 test
  • Abnormality of neuronal migration1 test
  • Abortive cerebellar ataxia9 tests
  • ABri amyloidosis3 tests
  • Abruzzo-Erickson syndrome1 test
  • Acatalasia1 test
  • Acetyl-CoA acetyltransferase-2 deficiency1 test
  • Acheiropodia1 test
  • Achondrogenesis type II18 tests
  • Achondrogenesis, type IA1 test
  • Achondrogenesis, type IB7 tests
  • Achondroplasia12 tests
  • Achromatopsia 23 tests
  • Achromatopsia 37 tests
  • Achromatopsia 43 tests
  • Achromatopsia 72 tests
  • Acid phosphatase deficiency2 tests
  • Acne inversa, familial, 12 tests
  • Acne inversa, familial, 21 test
  • Acne inversa, familial, 37 tests
  • Acquired hemoglobin H disease5 tests
  • Acquired polycythemia vera6 tests
  • Acral peeling skin syndrome2 tests
  • Acrocallosal syndrome10 tests
  • Acrocapitofemoral dysplasia4 tests
  • Acrocephalosyndactyly type I14 tests
  • Acrodysostosis 1 with or without hormone resistance5 tests
  • Acrodysostosis 2 with or without hormone resistance3 tests
  • Acroerythrokeratoderma3 tests
  • Acrokeratosis verruciformis of Hopf3 tests
  • Acromelic frontonasal dysostosis1 test
  • Acromesomelic dysplasia 1, Maroteaux type2 tests
  • Acromesomelic dysplasia 2B4 tests
  • Acromesomelic dysplasia 2C, Hunter-Thompson type4 tests
  • Acromesomelic dysplasia 33 tests
  • Acromicric dysplasia4 tests
  • Acroosteolysis-keloid-like lesions-premature aging syndrome3 tests
  • ACTH-independent macronodular adrenal hyperplasia 21 test
  • Actin accumulation myopathy9 tests
  • Action myoclonus-renal failure syndrome6 tests
  • Actn3 deficiency1 test
  • Acute erythroleukemia, familial1 test
  • Acute febrile mucocutaneous lymph node syndrome1 test
  • Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins4 tests
  • Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome5 tests
  • Acute intermittent porphyria4 tests
  • Acute lymphoid leukemia22 tests
  • Acute myeloid leukemia55 tests
  • Acute myelomonocytic leukemia M41 test
  • Acute promyelocytic leukemia7 tests
  • Acyl-CoA dehydrogenase 9 deficiency2 tests
  • Acyl-CoA oxidase deficiency4 tests
  • Adams-Oliver syndrome 14 tests
  • Adams-Oliver syndrome 23 tests
  • Adams-Oliver syndrome 34 tests
  • Adams-Oliver syndrome 44 tests
  • Adams-Oliver syndrome 56 tests
  • Adams-Oliver syndrome 64 tests
  • ADan amyloidosis3 tests
  • Adenosine kinase deficiency1 test
  • Adenylosuccinate lyase deficiency4 tests
  • Adermatoglyphia1 test
  • ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder2 tests
  • Adrenocortical carcinoma, hereditary10 tests
  • Adrenoleukodystrophy4 tests
  • Adult hypophosphatasia6 tests
  • Adult neuronal ceroid lipofuscinosis7 tests
  • Adult polyglucosan body disease11 tests
  • ADULT syndrome8 tests
  • Adult-onset autosomal dominant demyelinating leukodystrophy5 tests
  • Adult-onset foveomacular vitelliform dystrophy12 tests
  • Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency6 tests
  • Adult-onset proximal spinal muscular atrophy, autosomal dominant4 tests
  • Afibrinogenemia2 tests
  • Agammaglobulinemia 2, autosomal recessive2 tests
  • Agammaglobulinemia 3, autosomal recessive1 test
  • Agammaglobulinemia 4, autosomal recessive1 test
  • Agammaglobulinemia 6, autosomal recessive1 test
  • Agammaglobulinemia 7, autosomal recessive3 tests
  • Agammaglobulinemia 8, autosomal dominant1 test
  • Age related macular degeneration 17 tests
  • Age related macular degeneration 112 tests
  • Age related macular degeneration 132 tests
  • Age related macular degeneration 144 tests
  • Age related macular degeneration 26 tests
  • Age related macular degeneration 44 tests
  • Age related macular degeneration 511 tests
  • Age related macular degeneration 63 tests
  • Age related macular degeneration 75 tests
  • Age related macular degeneration 81 test
  • Age related macular degeneration 94 tests
  • Agenesis of the corpus callosum with peripheral neuropathy6 tests
  • Agnathia-otocephaly complex1 test
  • Aicardi Goutieres syndrome1 test
  • Aicardi syndrome1 test
  • Aicardi-Goutieres syndrome 17 tests
  • Aicardi-Goutieres syndrome 25 tests
  • Aicardi-Goutieres syndrome 37 tests
  • Aicardi-Goutieres syndrome 47 tests
  • Aicardi-Goutieres syndrome 57 tests
  • Aicardi-Goutieres syndrome 69 tests
  • Aicardi-Goutieres syndrome 75 tests
  • Alagille syndrome due to a JAG1 point mutation4 tests
  • Alagille syndrome due to a NOTCH2 point mutation5 tests
  • ALDH18A1-related de Barsy syndrome6 tests
  • Aldosterone-producing adenoma with seizures and neurological abnormalities2 tests
  • Alexander disease5 tests
  • ALG1-congenital disorder of glycosylation4 tests
  • ALG11-congenital disorder of glycosylation3 tests
  • ALG12-congenital disorder of glycosylation3 tests
  • ALG2-congenital disorder of glycosylation4 tests
  • ALG3-congenital disorder of glycosylation5 tests
  • ALG6-congenital disorder of glycosylation 1C3 tests
  • ALG8 congenital disorder of glycosylation3 tests
  • ALG9 congenital disorder of glycosylation4 tests
  • Alkaptonuria3 tests
  • Allan-Herndon-Dudley syndrome5 tests
  • Alopecia universalis congenita2 tests
  • alpha Thalassemia10 tests
  • Alpha thalassemia-X-linked intellectual disability syndrome5 tests
  • Alpha-1-antitrypsin deficiency4 tests
  • Alpha-2-plasmin inhibitor deficiency2 tests
  • Alpha-fetoprotein deficiency1 test
  • Alpha-methylacyl-CoA racemase deficiency4 tests
  • Alpha-N-acetylgalactosaminidase deficiency type 15 tests
  • Alpha-N-acetylgalactosaminidase deficiency type 24 tests
  • Alstrom syndrome6 tests
  • Alternating hemiplegia of childhood 16 tests
  • Alternating hemiplegia of childhood 27 tests
  • Alveolar capillary dysplasia with pulmonary venous misalignment2 tests
  • Alveolar rhabdomyosarcoma5 tests
  • Alzheimer disease14 tests
  • Alzheimer disease 181 test
  • Alzheimer disease 23 tests
  • Alzheimer disease 37 tests
  • Alzheimer disease 47 tests
  • Alzheimer disease 91 test
  • Amelocerebrohypohidrotic syndrome2 tests
  • Amelogenesis imperfecta - hypoplastic autosomal dominant - local1 test
  • Amelogenesis imperfecta hypomaturation type 2A21 test
  • Amelogenesis imperfecta hypomaturation type 2A51 test
  • Amelogenesis imperfecta type 1A3 tests
  • Amelogenesis imperfecta type 1C1 test
  • Amelogenesis imperfecta type 1E1 test
  • Amelogenesis imperfecta, hypocalcification type1 test
  • Aminoacylase 1 deficiency3 tests
  • Aminoglycoside-induced deafness4 tests
  • Amish lethal microcephaly5 tests
  • Amyloidogenic transthyretin amyloidosis11 tests
  • Amyloidosis, primary localized cutaneous, 11 test
  • Amyloidosis, primary localized cutaneous, 21 test
  • Amyotrophic lateral sclerosis type 19 tests
  • Amyotrophic lateral sclerosis type 102 tests
  • Amyotrophic lateral sclerosis type 118 tests
  • Amyotrophic lateral sclerosis type 122 tests
  • Amyotrophic lateral sclerosis type 152 tests
  • Amyotrophic lateral sclerosis type 165 tests
  • Amyotrophic lateral sclerosis type 182 tests
  • Amyotrophic lateral sclerosis type 2, juvenile4 tests
  • Amyotrophic lateral sclerosis type 204 tests
  • Amyotrophic lateral sclerosis type 214 tests
  • Amyotrophic lateral sclerosis type 47 tests
  • Amyotrophic lateral sclerosis type 55 tests
  • Amyotrophic lateral sclerosis type 63 tests
  • Amyotrophic lateral sclerosis type 84 tests
  • Amyotrophic lateral sclerosis type 92 tests
  • Amyotrophic neuralgia5 tests
  • Analbuminemia1 test
  • Anauxetic dysplasia 14 tests
  • Andersen Tawil syndrome11 tests
  • Androgen resistance syndrome8 tests
  • ANE syndrome1 test
  • Anemia, nonspherocytic hemolytic, due to G6PD deficiency9 tests
  • Aneurysm, intracranial berry, 121 test
  • Aneurysm-osteoarthritis syndrome4 tests
  • Angelman syndrome5 tests
  • Angioedema, hereditary, 51 test
  • Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome4 tests
  • Aniridia 120 tests
  • Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome8 tests
  • Annular epidermolytic ichthyosis5 tests
  • Anonychia1 test
  • Anophthalmia/microphthalmia-esophageal atresia syndrome8 tests
  • Anterior segment dysgenesis 14 tests
  • Anterior segment dysgenesis 35 tests
  • Anterior segment dysgenesis 45 tests
  • Anterior segment dysgenesis 64 tests
  • Anterior segment dysgenesis 73 tests
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis6 tests
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis17 tests
  • Anxiety1 test
  • Aortic aneurysm, familial thoracic 11, susceptibility to4 tests
  • Aortic aneurysm, familial thoracic 42 tests
  • Aortic aneurysm, familial thoracic 66 tests
  • Aortic aneurysm, familial thoracic 71 test
  • Aortic aneurysm, familial thoracic 81 test
  • Aortic valve disease 16 tests
  • Aortic valve disease 22 tests
  • Aplastic anemia21 tests
  • Apolipoprotein c-III deficiency1 test
  • Apparent mineralocorticoid excess2 tests
  • Arginase deficiency3 tests
  • Argininosuccinate lyase deficiency2 tests
  • Aromatase deficiency5 tests
  • Aromatase excess syndrome5 tests
  • Arrhinia with choanal atresia and microphthalmia syndrome3 tests
  • Arrhythmogenic cardiomyopathy with woolly hair and keratoderma5 tests
  • Arrhythmogenic right ventricular cardiomyopathy1 test
  • Arrhythmogenic right ventricular dysplasia 16 tests
  • Arrhythmogenic right ventricular dysplasia 107 tests
  • Arrhythmogenic right ventricular dysplasia 116 tests
  • Arrhythmogenic right ventricular dysplasia 126 tests
  • Arrhythmogenic right ventricular dysplasia 134 tests
  • Arrhythmogenic right ventricular dysplasia 28 tests
  • Arrhythmogenic right ventricular dysplasia 57 tests
  • Arrhythmogenic right ventricular dysplasia 85 tests
  • Arrhythmogenic right ventricular dysplasia 96 tests
  • Arterial calcification, generalized, of infancy, 13 tests
  • Arterial calcification, generalized, of infancy, 23 tests
  • Arterial tortuosity syndrome1 test
  • Arthrogryposis multiplex congenita2 tests
  • Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect2 tests
  • Arthrogryposis, distal, type 1A6 tests
  • Arthrogryposis, distal, type 1B4 tests
  • Arthrogryposis, distal, type 2B22 tests
  • Arthrogryposis, distal, with impaired proprioception and touch5 tests
  • Arthrogryposis, Perthes disease, and upward gaze palsy2 tests
  • Arthrogryposis, renal dysfunction, and cholestasis 18 tests
  • Arthrogryposis, renal dysfunction, and cholestasis 27 tests
  • Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome5 tests
  • Arts syndrome7 tests
  • Ashkenazi Jewish disorders1 test
  • Aspartylglucosaminuria4 tests
  • Asperger syndrome, X-linked, susceptibility to, 12 tests
  • Asperger syndrome, X-linked, susceptibility to, 23 tests
  • Aspergillosis, susceptibility to2 tests
  • Asphyxiating thoracic dystrophy 25 tests
  • Asphyxiating thoracic dystrophy 36 tests
  • Asphyxiating thoracic dystrophy 49 tests
  • Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome1 test
  • Ataxia - oculomotor apraxia type 48 tests
  • Ataxia with oculomotor apraxia type 32 tests
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia8 tests
  • Ataxia-hypogonadism-choroidal dystrophy syndrome8 tests
  • Ataxia-pancytopenia syndrome2 tests
  • Ataxia-telangiectasia syndrome14 tests
  • Ataxia-telangiectasia-like disorder2 tests
  • Ataxia-telangiectasia-like disorder 11 test
  • Ataxia-telangiectasia-like disorder 21 test
  • Ateleiotic dwarfism4 tests
  • Atelosteogenesis type I5 tests
  • Atelosteogenesis type II7 tests
  • Atelosteogenesis type III5 tests
  • Atopic dermatitis 22 tests
  • Atrial conduction disease2 tests
  • Atrial fibrillation, familial, 1011 tests
  • Atrial fibrillation, familial, 111 test
  • Atrial fibrillation, familial, 125 tests
  • Atrial fibrillation, familial, 137 tests
  • Atrial fibrillation, familial, 141 test
  • Atrial fibrillation, familial, 314 tests
  • Atrial fibrillation, familial, 46 tests
  • Atrial fibrillation, familial, 63 tests
  • Atrial fibrillation, familial, 71 test
  • Atrial fibrillation, familial, 911 tests
  • Atrial septal defect 23 tests
  • Atrial septal defect 37 tests
  • Atrial septal defect 55 tests
  • Atrial septal defect 75 tests
  • Atrial septal defect 93 tests
  • Atrial standstill 11 test
  • Atrial standstill 23 tests
  • Atrichia with papular lesions2 tests
  • Atrioventricular septal defect 35 tests
  • Atrioventricular septal defect 43 tests
  • Atrioventricular septal defect 53 tests
  • Atrioventricular septal defect, susceptibility to, 22 tests
  • Atrophia bulborum hereditaria7 tests
  • Attention deficit hyperactivity disorder2 tests
  • Atypical chronic myeloid leukemia, BCR-ABL1 negative1 test
  • Atypical Gaucher disease due to saposin C deficiency5 tests
  • Atypical hemolytic-uremic syndrome with B factor anomaly3 tests
  • Atypical hemolytic-uremic syndrome with C3 anomaly4 tests
  • Atypical hemolytic-uremic syndrome with I factor anomaly2 tests
  • Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly2 tests
  • Atypical hemolytic-uremic syndrome with thrombomodulin anomaly4 tests
  • Atypical Rett syndrome1 test
  • Auriculocondylar syndrome 11 test
  • Auriculocondylar syndrome 21 test
  • Auriculocondylar syndrome 31 test
  • Autism2 tests
  • Autism spectrum disorder3 tests
  • Autism spectrum disorder - epilepsy - arthrogryposis syndrome3 tests
  • Autism spectrum disorder due to AUTS2 deficiency2 tests
  • Autism, susceptibility to, 154 tests
  • Autism, susceptibility to, 161 test
  • Autism, susceptibility to, 172 tests
  • Autism, susceptibility to, 183 tests
  • Autism, susceptibility to, 52 tests
  • Autism, susceptibility to, X-linked 12 tests
  • Autism, susceptibility to, X-linked 23 tests
  • Autism, susceptibility to, X-linked 36 tests
  • Autism, susceptibility to, X-linked 41 test
  • Autism, susceptibility to, X-linked 53 tests
  • Autoimmune disease, multisystem, infantile-onset, 26 tests
  • Autoimmune disease, susceptibility to, 61 test
  • Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome3 tests
  • Autoimmune interstitial lung disease-arthritis syndrome2 tests
  • Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency4 tests
  • Autoimmune lymphoproliferative syndrome type 15 tests
  • Autoimmune lymphoproliferative syndrome type 2A4 tests
  • Autoimmune lymphoproliferative syndrome type 2B4 tests
  • Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD2 tests
  • Autoimmune thyroid disease, susceptibility to, 32 tests
  • Autoinflammation with arthritis and dyskeratosis2 tests
  • Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation2 tests
  • Autoinflammatory syndrome, familial, Behcet-like3 tests
  • Autosomal chromosomal disorder3 tests
  • Autosomal dominant Alport syndrome4 tests
  • Autosomal dominant aplasia and myelodysplasia3 tests
  • Autosomal dominant auditory neuropathy 11 test
  • Autosomal dominant centronuclear myopathy10 tests
  • Autosomal dominant cerebellar ataxia, deafness and narcolepsy4 tests
  • Autosomal dominant Charcot-Marie-Tooth disease type 2W4 tests
  • Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures3 tests
  • Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures6 tests
  • Autosomal dominant congenital benign spinal muscular atrophy9 tests
  • Autosomal dominant deafness - onychodystrophy syndrome1 test
  • Autosomal dominant distal renal tubular acidosis2 tests
  • Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome10 tests
  • Autosomal dominant hypocalcemia 15 tests
  • Autosomal dominant hypophosphatemic rickets4 tests
  • Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome2 tests
  • Autosomal dominant isolated somatotropin deficiency4 tests
  • Autosomal dominant Kenny-Caffey syndrome5 tests
  • Autosomal dominant keratitis8 tests
  • Autosomal dominant keratitis-ichthyosis-hearing loss syndrome6 tests
  • Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)3 tests
  • Autosomal dominant limb-girdle muscular dystrophy type 1F1 test
  • Autosomal dominant limb-girdle muscular dystrophy type 1G1 test
  • Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency2 tests
  • Autosomal dominant mitochondrial myopathy with exercise intolerance8 tests
  • Autosomal dominant nocturnal frontal lobe epilepsy 13 tests
  • Autosomal dominant nocturnal frontal lobe epilepsy 33 tests
  • Autosomal dominant nocturnal frontal lobe epilepsy 43 tests
  • Autosomal dominant nocturnal frontal lobe epilepsy 54 tests
  • Autosomal dominant nonsyndromic hearing loss 13 tests
  • Autosomal dominant nonsyndromic hearing loss 103 tests
  • Autosomal dominant nonsyndromic hearing loss 115 tests
  • Autosomal dominant nonsyndromic hearing loss 122 tests
  • Autosomal dominant nonsyndromic hearing loss 136 tests
  • Autosomal dominant nonsyndromic hearing loss 151 test
  • Autosomal dominant nonsyndromic hearing loss 178 tests
  • Autosomal dominant nonsyndromic hearing loss 203 tests
  • Autosomal dominant nonsyndromic hearing loss 225 tests
  • Autosomal dominant nonsyndromic hearing loss 236 tests
  • Autosomal dominant nonsyndromic hearing loss 251 test
  • Autosomal dominant nonsyndromic hearing loss 282 tests
  • Autosomal dominant nonsyndromic hearing loss 2A1 test
  • Autosomal dominant nonsyndromic hearing loss 2B5 tests
  • Autosomal dominant nonsyndromic hearing loss 362 tests
  • Autosomal dominant nonsyndromic hearing loss 3A6 tests
  • Autosomal dominant nonsyndromic hearing loss 3B5 tests
  • Autosomal dominant nonsyndromic hearing loss 401 test
  • Autosomal dominant nonsyndromic hearing loss 411 test
  • Autosomal dominant nonsyndromic hearing loss 441 test
  • Autosomal dominant nonsyndromic hearing loss 481 test
  • Autosomal dominant nonsyndromic hearing loss 4A5 tests
  • Autosomal dominant nonsyndromic hearing loss 51 test
  • Autosomal dominant nonsyndromic hearing loss 501 test
  • Autosomal dominant nonsyndromic hearing loss 66 tests
  • Autosomal dominant nonsyndromic hearing loss 641 test
  • Autosomal dominant nonsyndromic hearing loss 654 tests
  • Autosomal dominant nonsyndromic hearing loss 91 test
  • Autosomal dominant Opitz G/BBB syndrome3 tests
  • Autosomal dominant optic atrophy classic form9 tests
  • Autosomal dominant osteopetrosis 19 tests
  • Autosomal dominant osteopetrosis 24 tests
  • Autosomal dominant palmoplantar keratoderma and congenital alopecia5 tests
  • Autosomal dominant Parkinson disease 15 tests
  • Autosomal dominant Parkinson disease 45 tests
  • Autosomal dominant Parkinson disease 83 tests
  • Autosomal dominant polycystic kidney disease1 test
  • Autosomal dominant pseudohypoaldosteronism type 13 tests
  • Autosomal dominant Robinow syndrome 17 tests
  • Autosomal dominant Robinow syndrome 24 tests
  • Autosomal dominant Robinow syndrome 33 tests
  • Autosomal dominant sensory ataxia 11 test
  • Autosomal dominant sideroblastic anemia1 test
  • Autosomal dominant slowed nerve conduction velocity3 tests
  • Autosomal dominant striatal neurodegeneration type 12 tests
  • Autosomal dominant vitreoretinochoroidopathy9 tests
  • Autosomal dominant woolly hair2 tests
  • Autosomal recessive agammaglobulinemia 11 test
  • Autosomal recessive Alport syndrome5 tests
  • Autosomal recessive ataxia due to ubiquinone deficiency3 tests
  • Autosomal recessive ataxia, Beauce type8 tests
  • Autosomal recessive axonal neuropathy with neuromyotonia4 tests
  • Autosomal recessive bestrophinopathy9 tests
  • Autosomal recessive complex spastic paraplegia type 9B6 tests
  • Autosomal recessive congenital ichthyosis 12 tests
  • Autosomal recessive congenital ichthyosis 102 tests
  • Autosomal recessive congenital ichthyosis 113 tests
  • Autosomal recessive congenital ichthyosis 25 tests
  • Autosomal recessive congenital ichthyosis 34 tests
  • Autosomal recessive congenital ichthyosis 4A3 tests
  • Autosomal recessive congenital ichthyosis 4B3 tests
  • Autosomal recessive congenital ichthyosis 53 tests
  • Autosomal recessive congenital ichthyosis 62 tests
  • Autosomal recessive congenital ichthyosis 82 tests
  • Autosomal recessive congenital ichthyosis 91 test
  • Autosomal recessive cutis laxa type 2B2 tests
  • Autosomal recessive distal renal tubular acidosis4 tests
  • Autosomal recessive distal spinal muscular atrophy 18 tests
  • Autosomal recessive distal spinal muscular atrophy 25 tests
  • Autosomal recessive DOPA responsive dystonia4 tests
  • Autosomal recessive early-onset Parkinson disease 63 tests
  • Autosomal recessive early-onset Parkinson disease 73 tests
  • Autosomal recessive hypophosphatemic bone disease4 tests
  • Autosomal recessive juvenile Parkinson disease 22 tests
  • Autosomal recessive Kenny-Caffey syndrome6 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2A4 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2B9 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2C6 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2D6 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2E8 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2F8 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2G11 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2I7 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2J11 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2K7 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2L6 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2M8 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2N7 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2O6 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2P6 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2Q5 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2R11 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2T5 tests
  • Autosomal recessive limb-girdle muscular dystrophy type R182 tests
  • Autosomal recessive lower motor neuron disease with childhood onset5 tests
  • Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency1 test
  • Autosomal recessive multiple pterygium syndrome9 tests
  • Autosomal recessive nonsyndromic hearing loss 126 tests
  • Autosomal recessive nonsyndromic hearing loss 151 test
  • Autosomal recessive nonsyndromic hearing loss 162 tests
  • Autosomal recessive nonsyndromic hearing loss 18A5 tests
  • Autosomal recessive nonsyndromic hearing loss 18B1 test
  • Autosomal recessive nonsyndromic hearing loss 1A10 tests
  • Autosomal recessive nonsyndromic hearing loss 1B5 tests
  • Autosomal recessive nonsyndromic hearing loss 25 tests
  • Autosomal recessive nonsyndromic hearing loss 212 tests
  • Autosomal recessive nonsyndromic hearing loss 222 tests
  • Autosomal recessive nonsyndromic hearing loss 239 tests
  • Autosomal recessive nonsyndromic hearing loss 241 test
  • Autosomal recessive nonsyndromic hearing loss 251 test
  • Autosomal recessive nonsyndromic hearing loss 281 test
  • 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 315 tests
  • Autosomal recessive nonsyndromic hearing loss 351 test
  • Autosomal recessive nonsyndromic hearing loss 361 test
  • Autosomal recessive nonsyndromic hearing loss 375 tests
  • Autosomal recessive nonsyndromic hearing loss 391 test
  • Autosomal recessive nonsyndromic hearing loss 46 tests
  • Autosomal recessive nonsyndromic hearing loss 421 test
  • Autosomal recessive nonsyndromic hearing loss 485 tests
  • Autosomal recessive nonsyndromic hearing loss 493 tests
  • Autosomal recessive nonsyndromic hearing loss 536 tests
  • Autosomal recessive nonsyndromic hearing loss 591 test
  • Autosomal recessive nonsyndromic hearing loss 61 test
  • Autosomal recessive nonsyndromic hearing loss 611 test
  • Autosomal recessive nonsyndromic hearing loss 631 test
  • Autosomal recessive nonsyndromic hearing loss 662 tests
  • Autosomal recessive nonsyndromic hearing loss 671 test
  • Autosomal recessive nonsyndromic hearing loss 72 tests
  • Autosomal recessive nonsyndromic hearing loss 702 tests
  • Autosomal recessive nonsyndromic hearing loss 741 test
  • Autosomal recessive nonsyndromic hearing loss 761 test
  • Autosomal recessive nonsyndromic hearing loss 772 tests
  • Autosomal recessive nonsyndromic hearing loss 792 tests
  • 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 892 tests
  • Autosomal recessive nonsyndromic hearing loss 92 tests
  • Autosomal recessive nonsyndromic hearing loss 911 test
  • Autosomal recessive nonsyndromic hearing loss 931 test
  • Autosomal recessive nonsyndromic hearing loss 976 tests
  • Autosomal recessive nonsyndromic hearing loss 982 tests
  • Autosomal recessive optic atrophy, OPA7 type3 tests
  • Autosomal recessive osteopetrosis 14 tests
  • Autosomal recessive osteopetrosis 23 tests
  • Autosomal recessive osteopetrosis 44 tests
  • Autosomal recessive osteopetrosis 53 tests
  • Autosomal recessive osteopetrosis 63 tests
  • Autosomal recessive osteopetrosis 75 tests
  • Autosomal recessive osteopetrosis 83 tests
  • Autosomal recessive Parkinson disease 145 tests
  • Autosomal recessive polycystic kidney disease9 tests
  • Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity1 test
  • Autosomal recessive proximal renal tubular acidosis1 test
  • Autosomal recessive pseudohypoaldosteronism type 16 tests
  • Autosomal recessive Robinow syndrome5 tests
  • Autosomal recessive severe congenital neutropenia due to CSF3R deficiency6 tests
  • Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency5 tests
  • Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency2 tests
  • Autosomal recessive spastic paraplegia type 763 tests
  • Autosomal recessive spastic paraplegia type 787 tests
  • Autosomal recessive spinocerebellar ataxia 103 tests
  • Autosomal recessive spinocerebellar ataxia 111 test
  • Autosomal recessive spinocerebellar ataxia 123 tests
  • Autosomal recessive spinocerebellar ataxia 132 tests
  • Autosomal recessive spinocerebellar ataxia 142 tests
  • Autosomal recessive spinocerebellar ataxia 152 tests
  • Autosomal recessive spinocerebellar ataxia 161 test
  • Autosomal recessive spinocerebellar ataxia 171 test
  • Autosomal recessive spinocerebellar ataxia 181 test
  • Autosomal recessive spinocerebellar ataxia 22 tests
  • Autosomal recessive spinocerebellar ataxia 201 test
  • Autosomal recessive spinocerebellar ataxia 76 tests
  • Avascular necrosis of femoral head, primary, 118 tests
  • Avascular necrosis of femoral head, primary, 29 tests
  • Avellino corneal dystrophy2 tests
  • Axenfeld-Rieger syndrome type 15 tests
  • Axenfeld-Rieger syndrome type 35 tests
  • Axial spondylometaphyseal dysplasia1 test
  • Ayme-Gripp syndrome2 tests
  • Azorean disease1 test
  • B-cell chronic lymphocytic leukemia11 tests
  • B4GALT1-congenital disorder of glycosylation2 tests
  • Bacteremia, susceptibility to, 11 test
  • Bailey-Bloch congenital myopathy4 tests
  • Baller-Gerold syndrome5 tests
  • Bamforth-Lazarus syndrome1 test
  • Band heterotopia of brain1 test
  • BAP1-related tumor predisposition syndrome3 tests
  • Baraitser-Winter syndrome 17 tests
  • Baraitser-winter syndrome 23 tests
  • Barber-Say syndrome2 tests
  • Bardet-Biedl syndrome1 test
  • Bardet-Biedl syndrome 111 tests
  • Bardet-Biedl syndrome 109 tests
  • Bardet-Biedl syndrome 1110 tests
  • Bardet-Biedl syndrome 128 tests
  • Bardet-Biedl syndrome 1310 tests
  • Bardet-Biedl syndrome 1413 tests
  • Bardet-Biedl syndrome 155 tests
  • Bardet-Biedl syndrome 167 tests
  • Bardet-Biedl syndrome 175 tests
  • Bardet-Biedl syndrome 182 tests
  • Bardet-Biedl syndrome 193 tests
  • Bardet-Biedl syndrome 27 tests
  • Bardet-biedl syndrome 212 tests
  • Bardet-Biedl syndrome 221 test
  • Bardet-Biedl syndrome 38 tests
  • Bardet-Biedl syndrome 48 tests
  • Bardet-Biedl syndrome 57 tests
  • Bardet-Biedl syndrome 76 tests
  • Bardet-Biedl syndrome 88 tests
  • Bardet-Biedl syndrome 98 tests
  • Barrett esophagus2 tests
  • Bartsocas-Papas syndrome4 tests
  • Bartter disease type 11 test
  • Bartter disease type 21 test
  • Bartter disease type 32 tests
  • Bartter disease type 4a3 tests
  • Bartter disease type 4B3 tests
  • Basal cell carcinoma, susceptibility to, 110 tests
  • Basal cell carcinoma, susceptibility to, 710 tests
  • Basal ganglia calcification, idiopathic, 43 tests
  • Basal ganglia calcification, idiopathic, 51 test
  • Basal laminar drusen4 tests
  • Basan syndrome1 test
  • Beaded hair1 test
  • Beare-Stevenson cutis gyrata syndrome14 tests
  • Becker muscular dystrophy8 tests
  • Beckwith-Wiedemann syndrome23 tests
  • Behavior disorder1 test
  • Benign familial hematuria5 tests
  • Benign hereditary chorea6 tests
  • Benign recurrent intrahepatic cholestasis type 13 tests
  • Benign recurrent intrahepatic cholestasis type 22 tests
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy20 tests
  • BENTA disease2 tests
  • Bernard Soulier syndrome10 tests
  • Bernard-Soulier syndrome, type A2, autosomal dominant7 tests
  • beta Thalassemia7 tests
  • Beta-D-mannosidosis3 tests
  • Beta-hydroxyisobutyryl-CoA deacylase deficiency4 tests
  • Beta-thalassemia-X-linked thrombocytopenia syndrome8 tests
  • Bethlem myopathy 111 tests
  • Bethlem myopathy 24 tests
  • Bietti crystalline corneoretinal dystrophy3 tests
  • Bifunctional peroxisomal enzyme deficiency7 tests
  • Bilateral frontoparietal polymicrogyria1 test
  • Bilateral microtia-deafness-cleft palate syndrome1 test
  • Bilateral parasagittal parieto-occipital polymicrogyria7 tests
  • Bile acid malabsorption, primary2 tests
  • Biotin-responsive basal ganglia disease6 tests
  • Biotinidase deficiency6 tests
  • Blau syndrome3 tests
  • Bleeding diathesis due to thromboxane synthesis deficiency3 tests
  • Bleeding disorder, platelet-type, 213 tests
  • Blepharocheilodontic syndrome 21 test
  • Blepharophimosis - intellectual disability syndrome, MKB type7 tests
  • Blepharophimosis - intellectual disability syndrome, SBBYS type3 tests
  • Blepharophimosis, ptosis, and epicanthus inversus syndrome3 tests
  • Blepharospasm1 test
  • Bloom syndrome10 tests
  • BNAR syndrome5 tests
  • Body mass index quantitative trait locus 141 test
  • Body mass index quantitative trait locus 181 test
  • BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 202 tests
  • Body mass index quantitative trait locus 41 test
  • Body mass index quantitative trait locus 92 tests
  • Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency2 tests
  • Bohring-Opitz syndrome5 tests
  • Bone marrow failure syndrome 32 tests
  • Bone marrow failure syndrome 42 tests
  • Bone mineral density quantitative trait locus 19 tests
  • Bone mineral density quantitative trait locus 181 test
  • Bone osteosarcoma17 tests
  • Boomerang dysplasia5 tests
  • Borjeson-Forssman-Lehmann syndrome2 tests
  • Bosch-Boonstra-Schaaf optic atrophy syndrome2 tests
  • Bothnia retinal dystrophy5 tests
  • Brachydactyly type A14 tests
  • Brachydactyly type A1C4 tests
  • Brachydactyly type A1D3 tests
  • Brachydactyly type A27 tests
  • Brachydactyly type B15 tests
  • Brachydactyly type B22 tests
  • Brachydactyly type C4 tests
  • Brachydactyly type D2 tests
  • Brachydactyly type E12 tests
  • Brachydactyly type E21 test
  • Brachydactyly-arterial hypertension syndrome3 tests
  • Brachydactyly-elbow wrist dysplasia syndrome3 tests
  • Brachydactyly-syndactyly syndrome2 tests
  • Brachyolmia-amelogenesis imperfecta syndrome2 tests
  • Brachyrachia (short spine dysplasia)9 tests
  • Bradyopsia3 tests
  • Brain abnormalities, neurodegeneration, and dysosteosclerosis1 test
  • Brain small vessel disease 1 with or without ocular anomalies10 tests
  • Brain-lung-thyroid syndrome6 tests
  • Branched-chain keto acid dehydrogenase kinase deficiency1 test
  • Branchiooculofacial syndrome5 tests
  • Branchiootic syndrome 15 tests
  • Branchiootic syndrome 36 tests
  • Branchiootorenal syndrome 18 tests
  • Branchiootorenal syndrome 25 tests
  • Breast-ovarian cancer, familial, susceptibility to, 110 tests
  • Breast-ovarian cancer, familial, susceptibility to, 211 tests
  • Breast-ovarian cancer, familial, susceptibility to, 37 tests
  • Breast-ovarian cancer, familial, susceptibility to, 43 tests
  • Breasts and/or nipples, aplasia or hypoplasia of, 21 test
  • Brittle cornea syndrome 12 tests
  • Brittle cornea syndrome 21 test
  • Brody myopathy3 tests
  • Bronchiectasis with or without elevated sweat chloride 111 tests
  • Bronchiectasis with or without elevated sweat chloride 24 tests
  • Bronchiectasis with or without elevated sweat chloride 33 tests
  • Brooke-Spiegler syndrome2 tests
  • Brown-Vialetto-van Laere syndrome 18 tests
  • Brown-Vialetto-van Laere syndrome 26 tests
  • Bruck syndrome 15 tests
  • Bruck syndrome 23 tests
  • Brugada syndrome1 test
  • Brugada syndrome 111 tests
  • Brugada syndrome 24 tests
  • Brugada syndrome 39 tests
  • Brugada syndrome 45 tests
  • Brugada syndrome 57 tests
  • Brugada syndrome 66 tests
  • Brugada syndrome 74 tests
  • Brugada syndrome 86 tests
  • Brugada syndrome 96 tests
  • Brunner syndrome2 tests
  • Budd-Chiari syndrome9 tests
  • Bullous ichthyosiform erythroderma5 tests
  • Burkitt lymphoma2 tests
  • C syndrome2 tests
  • C1 inhibitor deficiency2 tests
  • Café-au-lait macules with pulmonary stenosis7 tests
  • Camptodactyly-arthropathy-coxa vara-pericarditis syndrome2 tests
  • Camptodactyly-tall stature-scoliosis-hearing loss syndrome11 tests
  • Camptomelic dysplasia8 tests
  • Camptosynpolydactyly, complex3 tests
  • Cancer of cervix11 tests
  • Candidiasis, familial, 63 tests
  • Candidiasis, familial, 83 tests
  • Candidiasis, familial, 91 test
  • Capillary infantile hemangioma5 tests
  • Capillary malformation4 tests
  • Capillary malformation-arteriovenous malformation 13 tests
  • Capillary malformation-arteriovenous malformation 21 test
  • CARASIL syndrome5 tests
  • Carcinoma of pancreas26 tests
  • Cardiac anomalies - developmental delay - facial dysmorphism syndrome4 tests
  • Cardiac arrhythmia, ankyrin-B-related7 tests
  • Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies1 test
  • Cardiac valvular defect, developmental1 test
  • Cardiac valvular dysplasia, X-linked9 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 17 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 23 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 33 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 41 test
  • Cardiofaciocutaneous syndrome 18 tests
  • Cardiofaciocutaneous syndrome 27 tests
  • Cardiofaciocutaneous syndrome 36 tests
  • Cardiofaciocutaneous syndrome 46 tests
  • Cardiomyopathy3 tests
  • Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis5 tests
  • Cardiomyopathy, familial restrictive, 15 tests
  • Cardiomyopathy, familial restrictive, 37 tests
  • Cardiomyopathy-hypotonia-lactic acidosis syndrome4 tests
  • Cardiospondylocarpofacial syndrome1 test
  • Carney complex - trismus - pseudocamptodactyly syndrome5 tests
  • Carney complex, type 15 tests
  • Carney-Stratakis syndrome15 tests
  • Carnitine acylcarnitine translocase deficiency3 tests
  • Carnitine palmitoyl transferase 1A deficiency7 tests
  • Carnitine palmitoyl transferase II deficiency, myopathic form9 tests
  • Carnitine palmitoyl transferase II deficiency, neonatal form9 tests
  • Carnitine palmitoyl transferase II deficiency, severe infantile form9 tests
  • Carnitine palmitoyltransferase I deficiency , muscle1 test
  • Carotid intimal medial thickness 12 tests
  • Carpal tunnel syndrome11 tests
  • Cataract2 tests
  • Cataract 1 multiple types3 tests
  • Cataract 10 multiple types2 tests
  • Cataract 11 multiple types4 tests
  • Cataract 12 multiple types3 tests
  • Cataract 13 with adult I phenotype3 tests
  • Cataract 14 multiple types2 tests
  • Cataract 15 multiple types2 tests
  • Cataract 16 multiple types9 tests
  • Cataract 17 multiple types3 tests
  • Cataract 183 tests
  • Cataract 19 multiple types2 tests
  • Cataract 2, multiple types2 tests
  • Cataract 20 multiple types2 tests
  • Cataract 21 multiple types2 tests
  • Cataract 22 multiple types4 tests
  • Cataract 233 tests
  • Cataract 3 multiple types2 tests
  • Cataract 302 tests
  • Cataract 31 multiple types2 tests
  • Cataract 333 tests
  • Cataract 34 multiple types4 tests
  • Cataract 363 tests
  • Cataract 385 tests
  • Cataract 4 multiple types3 tests
  • Cataract 405 tests
  • Cataract 416 tests
  • Cataract 442 tests
  • Cataract 453 tests
  • Cataract 5 multiple types3 tests
  • Cataract 6 multiple types2 tests
  • Cataract 9 multiple types3 tests
  • Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome3 tests
  • Catecholaminergic polymorphic ventricular tachycardia 111 tests
  • Catecholaminergic polymorphic ventricular tachycardia 26 tests
  • Catecholaminergic polymorphic ventricular tachycardia 46 tests
  • Catecholaminergic polymorphic ventricular tachycardia 53 tests
  • Catel-Manzke syndrome1 test
  • Cayman type cerebellar ataxia1 test
  • CBL-related disorder5 tests
  • CCDC115-CDG1 test
  • CEDNIK syndrome3 tests
  • Celiac disease, susceptibility to, 34 tests
  • Celiac disease, susceptibility to, 41 test
  • Cellular mosaicism1 test
  • Cenani-Lenz syndactyly syndrome2 tests
  • Centra precocious puberty 12 tests
  • Central core myopathy8 tests
  • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 12 tests
  • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 21 test
  • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 31 test
  • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 42 tests
  • Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome7 tests
  • Cerebellar ataxia-hypogonadism syndrome3 tests
  • Cerebellar atrophy, visual impairment, and psychomotor retardation;1 test
  • Cerebellar-facial-dental syndrome1 test
  • Cerebral amyloid angiopathy, APP-related4 tests
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 16 tests
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 25 tests
  • Cerebral arteriovenous malformation7 tests
  • Cerebral cavernous malformation4 tests
  • Cerebral cavernous malformation 23 tests
  • Cerebral cavernous malformation 33 tests
  • Cerebral folate transport deficiency6 tests
  • Cerebral palsy, spastic quadriplegic, 22 tests
  • Cerebro facio thoracic dysplasia1 test
  • Cerebro-costo-mandibular syndrome2 tests
  • Cerebrofaciothoracic dysplasia1 test
  • Cerebrooculofacioskeletal syndrome 111 tests
  • Cerebrooculofacioskeletal syndrome 28 tests
  • Cerebrooculofacioskeletal syndrome 34 tests
  • Cerebrooculofacioskeletal syndrome 42 tests
  • Cerebroretinal microangiopathy with calcifications and cysts 16 tests
  • Cerebroretinal microangiopathy with calcifications and cysts 21 test
  • Cernunnos-XLF deficiency2 tests
  • Ceroid lipofuscinosis, neuronal, 4 (Kufs type)2 tests
  • Ceroid lipofuscinosis, neuronal, 6A7 tests
  • CFHR5 deficiency3 tests
  • Channelopathy-associated congenital insensitivity to pain, autosomal recessive5 tests
  • Char syndrome2 tests
  • Charcot-Marie-Tooth disease1 test
  • Charcot-Marie-Tooth disease axonal type 2C9 tests
  • Charcot-Marie-Tooth disease axonal type 2CC5 tests
  • Charcot-Marie-Tooth disease axonal type 2F6 tests
  • Charcot-Marie-Tooth disease axonal type 2K7 tests
  • Charcot-Marie-Tooth disease axonal type 2L7 tests
  • Charcot-Marie-Tooth disease axonal type 2N5 tests
  • Charcot-Marie-Tooth disease axonal type 2O6 tests
  • Charcot-Marie-Tooth disease axonal type 2P3 tests
  • Charcot-Marie-Tooth disease axonal type 2Q3 tests
  • Charcot-Marie-Tooth disease axonal type 2S8 tests
  • Charcot-Marie-Tooth disease axonal type 2T3 tests
  • Charcot-Marie-Tooth disease axonal type 2U2 tests
  • Charcot-Marie-Tooth disease axonal type 2V4 tests
  • Charcot-Marie-Tooth disease axonal type 2X5 tests
  • Charcot-Marie-Tooth disease axonal type 2Z3 tests
  • Charcot-Marie-Tooth disease dominant intermediate B9 tests
  • Charcot-Marie-Tooth disease dominant intermediate C3 tests
  • Charcot-Marie-Tooth disease dominant intermediate D6 tests
  • Charcot-Marie-Tooth disease dominant intermediate E7 tests
  • Charcot-Marie-Tooth disease dominant intermediate F4 tests
  • Charcot-Marie-Tooth disease recessive intermediate A7 tests
  • Charcot-Marie-Tooth disease recessive intermediate B2 tests
  • Charcot-Marie-Tooth disease recessive intermediate C5 tests
  • Charcot-Marie-Tooth disease recessive intermediate D5 tests
  • Charcot-Marie-Tooth disease type 1B6 tests
  • Charcot-Marie-Tooth disease type 1C4 tests
  • Charcot-Marie-Tooth disease type 1D6 tests
  • Charcot-Marie-Tooth disease type 1E5 tests
  • Charcot-Marie-Tooth disease type 1F7 tests
  • Charcot-Marie-Tooth disease type 2A13 tests
  • Charcot-Marie-Tooth disease type 2A29 tests
  • Charcot-Marie-Tooth disease type 2B4 tests
  • Charcot-Marie-Tooth disease type 2B120 tests
  • Charcot-Marie-Tooth disease type 2B26 tests
  • Charcot-Marie-Tooth disease type 2D2 tests
  • Charcot-Marie-Tooth disease type 2E7 tests
  • Charcot-Marie-Tooth disease type 2I6 tests
  • Charcot-Marie-Tooth disease type 2J6 tests
  • Charcot-Marie-Tooth disease type 2R3 tests
  • Charcot-Marie-Tooth disease type 2Y8 tests
  • Charcot-Marie-Tooth disease type 4A7 tests
  • Charcot-Marie-Tooth disease type 4B15 tests
  • Charcot-Marie-Tooth disease type 4B26 tests
  • Charcot-Marie-Tooth disease type 4B34 tests
  • Charcot-Marie-Tooth disease type 4C5 tests
  • Charcot-Marie-Tooth disease type 4D4 tests
  • Charcot-Marie-Tooth disease type 4E6 tests
  • Charcot-Marie-Tooth disease type 4F5 tests
  • Charcot-Marie-Tooth disease type 4G8 tests
  • Charcot-Marie-Tooth disease type 4H5 tests
  • Charcot-Marie-Tooth disease type 4J8 tests
  • Charcot-Marie-Tooth disease type 4K5 tests
  • Charcot-Marie-Tooth disease X-linked dominant 15 tests
  • Charcot-Marie-Tooth disease X-linked dominant 62 tests
  • Charcot-Marie-Tooth disease X-linked recessive 57 tests
  • Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;9 tests
  • Charcot-marie-tooth disease, axonal, type 2DD2 tests
  • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive7 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 1G2 tests
  • Charcot-Marie-Tooth disease, type IA5 tests
  • CHARGE association11 tests
  • Charlevoix-Saguenay spastic ataxia8 tests
  • Chilblain lupus 17 tests
  • Chilblain lupus 27 tests
  • Child syndrome5 tests
  • Childhood apraxia of speech4 tests
  • Childhood encephalopathy due to thiamine pyrophosphokinase deficiency3 tests
  • Childhood hypophosphatasia6 tests
  • Childhood onset GLUT1 deficiency syndrome 212 tests
  • CHIME syndrome3 tests
  • Chitayat syndrome2 tests
  • Chitotriosidase deficiency1 test
  • Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome1 test
  • Cholangiocarcinoma1 test
  • Cholestanol storage disease13 tests
  • Cholestasis1 test
  • Cholestasis, intrahepatic, of pregnancy, 13 tests
  • Cholestasis, intrahepatic, of pregnancy, 32 tests
  • Cholestasis, progressive familial intrahepatic, 43 tests
  • Cholestasis, progressive familial intrahepatic, 51 test
  • Chondrocalcinosis 22 tests
  • Chondrodysplasia Blomstrand type1 test
  • Chondrodysplasia punctata 2 X-linked dominant6 tests
  • Chondrodysplasia with joint dislocations, gPAPP type2 tests
  • Chondrosarcoma5 tests
  • Chorea-acanthocytosis5 tests
  • Choroid plexus papilloma10 tests
  • Choroidal dystrophy, central areolar 212 tests
  • Choroidal dystrophy, central areolar, 16 tests
  • Choroideremia4 tests
  • Christianson syndrome4 tests
  • Chromosome 1p36 deletion syndrome1 test
  • Chromosome 1q21.1 deletion syndrome5 tests
  • Chromosome 1q21.1 duplication syndrome1 test
  • Chromosome 2P16.3 deletion syndrome4 tests
  • Chromosome 2q32-q33 deletion syndrome3 tests
  • Chromosome 2q37 deletion syndrome2 tests
  • Chronic infantile neurological, cutaneous and articular syndrome4 tests
  • Chronic myelogenous leukemia, BCR-ABL1 positive7 tests
  • Chronic obstructive pulmonary disease2 tests
  • Chudley-McCullough syndrome1 test
  • Chuvash polycythemia9 tests
  • Chédiak-Higashi syndrome11 tests
  • Ciliopathy1 test
  • Citrullinemia type I3 tests
  • Citrullinemia type II3 tests
  • CK syndrome5 tests
  • Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency4 tests
  • Classic Hodgkin lymphoma1 test
  • Classic homocystinuria1 test
  • Cleft lip/palate-ectodermal dysplasia syndrome2 tests
  • Cleft palate with or without ankyloglossia, X-linked1 test
  • Cleidocranial dysostosis4 tests
  • CLOVES syndrome6 tests
  • Clubfoot3 tests
  • COACH syndrome 115 tests
  • Cobalamin C disease5 tests
  • Cobblestone lissencephaly without muscular or ocular involvement5 tests
  • Cockayne syndrome type 19 tests
  • Cockayne syndrome type 211 tests
  • CODAS syndrome4 tests
  • Coenzyme Q10 deficiency1 test
  • Coenzyme Q10 deficiency, primary, 17 tests
  • Coenzyme Q10 deficiency, primary, 35 tests
  • Coffin-Lowry syndrome2 tests
  • Coffin-Siris syndrome 13 tests
  • Coffin-Siris syndrome 51 test
  • COG1 congenital disorder of glycosylation3 tests
  • COG4-congenital disorder of glycosylation2 tests
  • COG5-congenital disorder of glycosylation2 tests
  • COG6-ongenital disorder of glycosylation2 tests
  • COG7 congenital disorder of glycosylation3 tests
  • COG8-congenital disorder of glycosylation2 tests
  • Cognitive impairment with or without cerebellar ataxia4 tests
  • Cohen syndrome9 tests
  • Cohen-Gibson syndrome1 test
  • Cold-induced sweating syndrome 11 test
  • Cold-induced sweating syndrome 21 test
  • Cole-Carpenter syndrome 12 tests
  • Cole-Carpenter syndrome 21 test
  • Coloboma of optic nerve8 tests
  • Coloboma, ocular, autosomal dominant8 tests
  • Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness3 tests
  • Colobomatous microphthalmia-rhizomelic dysplasia syndrome1 test
  • Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome1 test
  • Colorectal cancer54 tests
  • Colorectal cancer, hereditary nonpolyposis, type 214 tests
  • Colorectal cancer, hereditary nonpolyposis, type 412 tests
  • Colorectal cancer, hereditary nonpolyposis, type 513 tests
  • Colorectal cancer, hereditary nonpolyposis, type 610 tests
  • Colorectal cancer, hereditary nonpolyposis, type 74 tests
  • Colorectal cancer, hereditary nonpolyposis, type 812 tests
  • Colorectal cancer, susceptibility to, 12 tests
  • Colorectal cancer, susceptibility to, 103 tests
  • Colorectal cancer, susceptibility to, 123 tests
  • Combined deficiency of sialidase AND beta galactosidase3 tests
  • Combined immunodeficiency due to CD3gamma deficiency3 tests
  • Combined immunodeficiency due to DOCK8 deficiency5 tests
  • Combined immunodeficiency due to GINS1 deficiency2 tests
  • Combined immunodeficiency due to LRBA deficiency5 tests
  • Combined immunodeficiency due to MALT1 deficiency3 tests
  • Combined immunodeficiency due to moesin deficiency1 test
  • Combined immunodeficiency due to ORAI1 deficiency3 tests
  • Combined immunodeficiency due to OX40 deficiency1 test
  • Combined immunodeficiency due to partial RAG1 deficiency5 tests
  • Combined immunodeficiency due to STIM1 deficiency5 tests
  • Combined immunodeficiency due to STK4 deficiency1 test
  • Combined immunodeficiency due to ZAP70 deficiency6 tests
  • Combined immunodeficiency with skin granulomas8 tests
  • Combined immunodeficiency, X-linked3 tests
  • Combined malonic and methylmalonic acidemia2 tests
  • Combined oxidative phosphorylation defect type 112 tests
  • Combined oxidative phosphorylation defect type 132 tests
  • Combined oxidative phosphorylation defect type 143 tests
  • Combined oxidative phosphorylation defect type 155 tests
  • Combined oxidative phosphorylation defect type 174 tests
  • Combined oxidative phosphorylation defect type 22 tests
  • Combined oxidative phosphorylation defect type 201 test
  • Combined oxidative phosphorylation defect type 211 test
  • Combined oxidative phosphorylation defect type 231 test
  • Combined oxidative phosphorylation defect type 241 test
  • Combined oxidative phosphorylation defect type 255 tests
  • Combined oxidative phosphorylation defect type 262 tests
  • Combined oxidative phosphorylation defect type 271 test
  • Combined oxidative phosphorylation defect type 301 test
  • Combined oxidative phosphorylation defect type 45 tests
  • Combined oxidative phosphorylation defect type 74 tests
  • Combined oxidative phosphorylation defect type 83 tests
  • Combined oxidative phosphorylation defect type 94 tests
  • Combined oxidative phosphorylation deficiency 282 tests
  • Combined oxidative phosphorylation deficiency 401 test
  • Complement component 2 deficiency2 tests
  • Complement component 3 deficiency3 tests
  • Complement component 4b deficiency1 test
  • Complement component 5 deficiency1 test
  • Complement factor b deficiency3 tests
  • Complete trisomy 13 syndrome3 tests
  • Complete trisomy 18 syndrome4 tests
  • Complete trisomy 21 syndrome13 tests
  • Complex cortical dysplasia with other brain malformations 14 tests
  • Complex cortical dysplasia with other brain malformations 23 tests
  • Complex cortical dysplasia with other brain malformations 31 test
  • Complex cortical dysplasia with other brain malformations 42 tests
  • Complex cortical dysplasia with other brain malformations 52 tests
  • Complex cortical dysplasia with other brain malformations 63 tests
  • Complex cortical dysplasia with other brain malformations 72 tests
  • Complex lethal osteochondrodysplasia2 tests
  • Compton-North congenital myopathy4 tests
  • Cone dystrophy 34 tests
  • Cone dystrophy 43 tests
  • Cone dystrophy with supernormal rod response4 tests
  • Cone monochromatism1 test
  • Cone-rod dystrophy 103 tests
  • Cone-rod dystrophy 113 tests
  • Cone-rod dystrophy 126 tests
  • Cone-rod dystrophy 135 tests
  • Cone-rod dystrophy 153 tests
  • Cone-rod dystrophy 162 tests
  • Cone-rod dystrophy 183 tests
  • Cone-rod dystrophy 191 test
  • Cone-rod dystrophy 25 tests
  • Cone-rod dystrophy 202 tests
  • Cone-rod dystrophy 36 tests
  • Cone-rod dystrophy 52 tests
  • Cone-rod dystrophy 66 tests
  • Cone-rod dystrophy 73 tests
  • Cone-rod dystrophy 93 tests
  • Cone-rod dystrophy and hearing loss 12 tests
  • Cone-rod synaptic disorder, congenital nonprogressive3 tests
  • Congenital absence of salivary gland4 tests
  • Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency6 tests
  • Congenital adrenal hypoplasia1 test
  • Congenital adrenal hypoplasia, X-linked4 tests
  • Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency4 tests
  • Congenital afibrinogenemia9 tests
  • Congenital amegakaryocytic thrombocytopenia7 tests
  • Congenital anomalies of kidney and urinary tract 13 tests
  • Congenital anomalies of kidney and urinary tract 22 tests
  • Congenital anomaly of kidney and urinary tract1 test
  • Congenital bilateral aplasia of vas deferens from CFTR mutation9 tests
  • Congenital bile acid synthesis defect 12 tests
  • Congenital bile acid synthesis defect 21 test
  • Congenital bile acid synthesis defect 34 tests
  • Congenital bile acid synthesis defect 44 tests
  • Congenital bile acid synthesis defect 52 tests
  • Congenital cataract-hearing loss-severe developmental delay syndrome5 tests
  • Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome6 tests
  • Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome4 tests
  • Congenital cataracts-facial dysmorphism-neuropathy syndrome5 tests
  • Congenital central hypoventilation20 tests
  • Congenital chromosomal disease15 tests
  • Congenital contractural arachnodactyly4 tests
  • Congenital contractures of the limbs and face, hypotonia, and developmental delay3 tests
  • Congenital defect of folate absorption3 tests
  • Congenital diarrhea1 test
  • Congenital diarrhea 5 with tufting enteropathy12 tests
  • Congenital diarrhea 61 test
  • Congenital diarrhea 7 with exudative enteropathy1 test
  • Congenital disorder of deglycosylation2 tests
  • Congenital disorder of glycosylation type 1E5 tests
  • Congenital disorder of glycosylation type Ir2 tests
  • Congenital disorder of glycosylation, type IIw1 test
  • Congenital dyserythropoietic anemia type 41 test
  • Congenital dyserythropoietic anemia type type 1B1 test
  • Congenital dyserythropoietic anemia, type II3 tests
  • Congenital fibrosis of extraocular muscles type 11 test
  • Congenital generalized lipodystrophy type 11 test
  • Congenital generalized lipodystrophy type 26 tests
  • Congenital generalized lipodystrophy type 32 tests
  • Congenital generalized lipodystrophy type 42 tests
  • Congenital glucose-galactose malabsorption2 tests
  • Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1 test
  • Congenital heart defects, multiple types, 21 test
  • Congenital heart defects, multiple types, 63 tests
  • Congenital hereditary endothelial dystrophy of cornea1 test
  • Congenital hypotrichosis with juvenile macular dystrophy10 tests
  • Congenital insensitivity to pain-hypohidrosis syndrome2 tests
  • Congenital isolated adrenocorticotropic hormone deficiency1 test
  • Congenital lactase deficiency1 test
  • Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type4 tests
  • Congenital lipoid adrenal hyperplasia due to STAR deficency5 tests
  • Congenital malabsorptive diarrhea 42 tests
  • Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome1 test
  • Congenital microvillous atrophy3 tests
  • Congenital multicore myopathy with external ophthalmoplegia8 tests
  • Congenital muscular dystrophy due to integrin alpha-7 deficiency5 tests
  • Congenital muscular dystrophy due to LMNA mutation20 tests
  • Congenital muscular dystrophy with cataracts and intellectual disability3 tests
  • Congenital muscular dystrophy with intellectual disability and severe epilepsy5 tests
  • Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome2 tests
  • Congenital muscular hypertrophy-cerebral syndrome4 tests
  • Congenital myasthenic syndrome 108 tests
  • Congenital myasthenic syndrome 119 tests
  • Congenital myasthenic syndrome 125 tests
  • Congenital myasthenic syndrome 136 tests
  • Congenital myasthenic syndrome 144 tests
  • Congenital myasthenic syndrome 152 tests
  • Congenital myasthenic syndrome 167 tests
  • Congenital myasthenic syndrome 172 tests
  • Congenital myasthenic syndrome 181 test
  • Congenital myasthenic syndrome 192 tests
  • Congenital myasthenic syndrome 206 tests
  • Congenital myasthenic syndrome 213 tests
  • Congenital myasthenic syndrome 2A5 tests
  • Congenital myasthenic syndrome 2C5 tests
  • Congenital myasthenic syndrome 3A8 tests
  • Congenital myasthenic syndrome 3B8 tests
  • Congenital myasthenic syndrome 3C8 tests
  • Congenital myasthenic syndrome 4A6 tests
  • Congenital myasthenic syndrome 4B6 tests
  • Congenital myasthenic syndrome 4C7 tests
  • Congenital myasthenic syndrome 56 tests
  • Congenital myasthenic syndrome 74 tests
  • Congenital myasthenic syndrome 86 tests
  • Congenital myasthenic syndrome 99 tests
  • Congenital myopathy with fiber type disproportion21 tests
  • Congenital myopathy with internal nuclei and atypical cores3 tests
  • Congenital myopathy with reduced type 2 muscle fibers1 test
  • Congenital myotonia, autosomal dominant form3 tests
  • Congenital myotonia, autosomal recessive form3 tests
  • Congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome1 test
  • Congenital neutropenia-myelofibrosis-nephromegaly syndrome3 tests
  • Congenital nongoitrous hypothryoidism 61 test
  • Congenital nonprogressive myopathy with Moebius and Robin sequences4 tests
  • Congenital plasminogen activator inhibitor type 1 deficiency4 tests
  • Congenital primary aphakia4 tests
  • Congenital prothrombin deficiency6 tests
  • Congenital reticular ichthyosiform erythroderma3 tests
  • Congenital secretory diarrhea, chloride type1 test
  • Congenital secretory sodium diarrhea 32 tests
  • Congenital sensory neuropathy with selective loss of small myelinated fibers2 tests
  • Congenital stationary night blindness 1A4 tests
  • Congenital stationary night blindness 1B4 tests
  • Congenital stationary night blindness 1C5 tests
  • Congenital stationary night blindness 1D3 tests
  • Congenital stationary night blindness 1E4 tests
  • Congenital stationary night blindness 1F3 tests
  • Congenital stationary night blindness 1G4 tests
  • Congenital stationary night blindness 1H1 test
  • Congenital stationary night blindness 2A4 tests
  • Congenital stationary night blindness autosomal dominant 16 tests
  • Congenital stationary night blindness autosomal dominant 25 tests
  • Congenital stationary night blindness autosomal dominant 34 tests
  • Congenital vertical talus2 tests
  • Conotruncal heart malformations11 tests
  • Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A6 tests
  • Cornea plana 21 test
  • Corneal dystrophy, Fuchs endothelial, 34 tests
  • Corneal dystrophy, Fuchs endothelial, 41 test
  • Corneal dystrophy, lattice type 3A2 tests
  • Corneal dystrophy-perceptive deafness syndrome1 test
  • Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome2 tests
  • Cornelia de Lange syndrome 15 tests
  • Cornelia de Lange syndrome 35 tests
  • Cornelia de Lange syndrome 43 tests
  • Cornelia de Lange syndrome 55 tests
  • Coronary artery disease, autosomal dominant 21 test
  • Coronary heart disease, susceptibility to, 71 test
  • Corpus callosum agenesis-abnormal genitalia syndrome7 tests
  • Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome1 test
  • Cortical dysplasia-focal epilepsy syndrome4 tests
  • Corticosterone 18-monooxygenase deficiency2 tests
  • Corticosterone methyloxidase type 2 deficiency2 tests
  • Cortisone reductase deficiency 11 test
  • Cortisone reductase deficiency 21 test
  • Costello syndrome9 tests
  • Cowden syndrome 117 tests
  • Cowden syndrome 41 test
  • Cowden syndrome 56 tests
  • Cowden syndrome 63 tests
  • Cowden syndrome 73 tests
  • Coxopodopatellar syndrome1 test
  • Craniodiaphyseal dysplasia, autosomal dominant3 tests
  • Cranioectodermal dysplasia 14 tests
  • Cranioectodermal dysplasia 26 tests
  • Cranioectodermal dysplasia 35 tests
  • Cranioectodermal dysplasia 410 tests
  • Craniofacial anomalies and anterior segment dysgenesis syndrome1 test
  • Craniofacial dysplasia - osteopenia syndrome3 tests
  • Craniofacial-deafness-hand syndrome4 tests
  • Craniofrontonasal syndrome5 tests
  • Craniolenticulosutural dysplasia1 test
  • Craniometaphyseal dysplasia, autosomal dominant2 tests
  • Craniometaphyseal dysplasia, autosomal recessive5 tests
  • Craniosynostosis 23 tests
  • Craniosynostosis 42 tests
  • Craniosynostosis 5, susceptibility to3 tests
  • Craniosynostosis 61 test
  • Craniosynostosis 72 tests
  • Craniosynostosis and dental anomalies3 tests
  • Craniosynostosis syndrome2 tests
  • Creatine transporter deficiency1 test
  • Crigler-Najjar syndrome type 17 tests
  • Crigler-Najjar syndrome, type II7 tests
  • Crouzon syndrome14 tests
  • Crouzon syndrome-acanthosis nigricans syndrome11 tests
  • Cryohydrocytosis2 tests
  • Cryptophthalmos syndrome3 tests
  • Cryptorchidism2 tests
  • Cryptosporidiosis-chronic cholangitis-liver disease syndrome1 test
  • Currarino triad1 test
  • Curry-Hall syndrome10 tests
  • Curry-Jones syndrome2 tests
  • Cushing syndrome6 tests
  • Cutaneous porphyria3 tests
  • Cutis laxa with osteodystrophy4 tests
  • Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies1 test
  • Cutis laxa, autosomal dominant 12 tests
  • Cutis laxa, autosomal dominant 25 tests
  • Cutis laxa, autosomal dominant 36 tests
  • Cutis laxa, autosomal recessive, type 1A5 tests
  • Cutis laxa, autosomal recessive, type 1B2 tests
  • Cutis laxa, X-linked6 tests
  • Cyclical neutropenia5 tests
  • CYP2C19-related poor drug metabolism3 tests
  • Cystathioninuria1 test
  • Cystic fibrosis10 tests
  • Cystic leukoencephalopathy without megalencephaly3 tests
  • Cystinuria3 tests
  • Cytochrome-c oxidase deficiency disease11 tests
  • Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder1 test
  • Czech dysplasia, metatarsal type18 tests
  • D-2-hydroxyglutaric aciduria 12 tests
  • D-2-hydroxyglutaric aciduria 27 tests
  • D-Glyceric aciduria1 test
  • Danon disease9 tests
  • DE SANCTIS-CACCHIONE SYNDROME11 tests
  • Deafness dystonia syndrome5 tests
  • Deafness, autosomal dominant 39, with dentinogenesis imperfecta 11 test
  • Deafness-encephaloneuropathy-obesity-valvulopathy syndrome3 tests
  • Deafness-infertility syndrome3 tests
  • Deafness-lymphedema-leukemia syndrome8 tests
  • Decreased plasma carnitine1 test
  • Deficiency of 2-methylbutyryl-CoA dehydrogenase1 test
  • Deficiency of 3-hydroxyacyl-CoA dehydrogenase3 tests
  • Deficiency of acetyl-CoA acetyltransferase2 tests
  • Deficiency of alpha-mannosidase5 tests
  • Deficiency of aromatic-L-amino-acid decarboxylase2 tests
  • Deficiency of beta-ureidopropionase1 test
  • Deficiency of butyryl-CoA dehydrogenase6 tests
  • Deficiency of butyrylcholinesterase3 tests
  • Deficiency of cytochrome-b5 reductase1 test
  • Deficiency of ferroxidase3 tests
  • Deficiency of galactokinase4 tests
  • Deficiency of glycerol kinase3 tests
  • Deficiency of guanidinoacetate methyltransferase4 tests
  • Deficiency of hyaluronoglucosaminidase2 tests
  • Deficiency of hydroxymethylglutaryl-CoA lyase3 tests
  • Deficiency of iodide peroxidase2 tests
  • Deficiency of malonyl-CoA decarboxylase2 tests
  • Deficiency of phosphoserine phosphatase1 test
  • Deficiency of pyrroline-5-carboxylate reductase2 tests
  • Deficiency of ribose-5-phosphate isomerase2 tests
  • Deficiency of steroid 11-beta-monooxygenase3 tests
  • Deficiency of steroid 17-alpha-monooxygenase6 tests
  • Deficiency of transaldolase3 tests
  • Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase7 tests
  • Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema3 tests
  • Dejerine-Sottas disease11 tests
  • Dent disease type 14 tests
  • Dent disease type 26 tests
  • Dentatorubral-pallidoluysian atrophy2 tests
  • Denticles1 test
  • Dentinogenesis imperfecta type 21 test
  • Dentinogenesis imperfecta type 31 test
  • Depression1 test
  • Dermatofibrosarcoma protuberans2 tests
  • Dermatofibrosis lenticularis disseminata1 test
  • Dermatopathia pigmentosa reticularis4 tests
  • DeSanto-Shinawi syndrome due to WAC point mutation1 test
  • Desbuquois dysplasia 12 tests
  • Desbuquois dysplasia 22 tests
  • Desmin-related myofibrillar myopathy11 tests
  • Desmoid disease, hereditary8 tests
  • Desmosterolosis3 tests
  • Deuteranomaly1 test
  • Developmental and epileptic encephalopathy 944 tests
  • Developmental and epileptic encephalopathy, 17 tests
  • Developmental and epileptic encephalopathy, 114 tests
  • Developmental and epileptic encephalopathy, 122 tests
  • Developmental and epileptic encephalopathy, 134 tests
  • Developmental and epileptic encephalopathy, 144 tests
  • Developmental and epileptic encephalopathy, 173 tests
  • Developmental and epileptic encephalopathy, 182 tests
  • Developmental and epileptic encephalopathy, 192 tests
  • Developmental and epileptic encephalopathy, 26 tests
  • Developmental and epileptic encephalopathy, 232 tests
  • Developmental and epileptic encephalopathy, 242 tests
  • Developmental and epileptic encephalopathy, 251 test
  • Developmental and epileptic encephalopathy, 261 test
  • Developmental and epileptic encephalopathy, 273 tests
  • Developmental and epileptic encephalopathy, 283 tests
  • Developmental and epileptic encephalopathy, 295 tests
  • Developmental and epileptic encephalopathy, 301 test
  • Developmental and epileptic encephalopathy, 313 tests
  • Developmental and epileptic encephalopathy, 324 tests
  • Developmental and epileptic encephalopathy, 341 test
  • Developmental and epileptic encephalopathy, 352 tests
  • Developmental and epileptic encephalopathy, 364 tests
  • Developmental and epileptic encephalopathy, 371 test
  • Developmental and epileptic encephalopathy, 394 tests
  • Developmental and epileptic encephalopathy, 44 tests
  • Developmental and epileptic encephalopathy, 411 test
  • Developmental and epileptic encephalopathy, 4210 tests
  • Developmental and epileptic encephalopathy, 433 tests
  • Developmental and epileptic encephalopathy, 441 test
  • Developmental and epileptic encephalopathy, 471 test
  • Developmental and epileptic encephalopathy, 52 tests
  • Developmental and epileptic encephalopathy, 512 tests
  • Developmental and epileptic encephalopathy, 527 tests
  • Developmental and epileptic encephalopathy, 533 tests
  • Developmental and epileptic encephalopathy, 542 tests
  • Developmental and epileptic encephalopathy, 601 test
  • Developmental and epileptic encephalopathy, 74 tests
  • Developmental and epileptic encephalopathy, 82 tests
  • Developmental and epileptic encephalopathy, 93 tests
  • Developmental delay with autism spectrum disorder and gait instability1 test
  • Developmental malformations-deafness-dystonia syndrome7 tests
  • Diabetes insipidus, nephrogenic, autosomal2 tests
  • Diabetes insipidus, nephrogenic, X-linked2 tests
  • Diabetes mellitus type 16 tests
  • Diabetes mellitus, ketosis-prone4 tests
  • Diabetes mellitus, transient neonatal, 12 tests
  • Diabetes mellitus, transient neonatal, 212 tests
  • Diabetes mellitus, transient neonatal, 39 tests
  • Diamond-Blackfan anemia1 test
  • Diamond-Blackfan anemia 16 tests
  • Diamond-Blackfan anemia 105 tests
  • Diamond-Blackfan anemia 112 tests
  • Diamond-Blackfan anemia 122 tests
  • Diamond-Blackfan anemia 131 test
  • Diamond-Blackfan anemia 15 with mandibulofacial dysostosis2 tests
  • Diamond-Blackfan anemia 161 test
  • Diamond-Blackfan anemia 171 test
  • Diamond-Blackfan anemia 34 tests
  • Diamond-Blackfan anemia 43 tests
  • Diamond-Blackfan anemia 54 tests
  • Diamond-Blackfan anemia 65 tests
  • Diamond-Blackfan anemia 74 tests
  • Diamond-Blackfan anemia 84 tests
  • Diamond-Blackfan anemia 94 tests
  • Diaphragmatic hernia 31 test
  • Diaphyseal dysplasia1 test
  • Diaphyseal medullary stenosis-bone malignancy syndrome1 test
  • Dias-Logan syndrome1 test
  • Diastrophic dysplasia7 tests
  • DICER1 syndrome3 tests
  • Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome2 tests
  • Diffuse nonepidermolytic palmoplantar keratoderma4 tests
  • DiGeorge syndrome7 tests
  • Dihydropteridine reductase deficiency2 tests
  • Dihydropyrimidinase deficiency1 test
  • Dihydropyrimidine dehydrogenase deficiency5 tests
  • Dilated cardiomyopathy 1A20 tests
  • Dilated cardiomyopathy 1AA5 tests
  • Dilated cardiomyopathy 1BB7 tests
  • Dilated cardiomyopathy 1C9 tests
  • Dilated cardiomyopathy 1CC5 tests
  • Dilated cardiomyopathy 1D7 tests
  • Dilated cardiomyopathy 1DD3 tests
  • Dilated cardiomyopathy 1E11 tests
  • Dilated cardiomyopathy 1EE7 tests
  • Dilated cardiomyopathy 1FF5 tests
  • Dilated cardiomyopathy 1G11 tests
  • Dilated cardiomyopathy 1GG11 tests
  • Dilated cardiomyopathy 1HH8 tests
  • Dilated cardiomyopathy 1I11 tests
  • Dilated cardiomyopathy 1II9 tests
  • Dilated cardiomyopathy 1J3 tests
  • Dilated cardiomyopathy 1JJ2 tests
  • Dilated cardiomyopathy 1KK5 tests
  • Dilated cardiomyopathy 1L8 tests
  • Dilated cardiomyopathy 1M5 tests
  • Dilated cardiomyopathy 1NN8 tests
  • Dilated cardiomyopathy 1O5 tests
  • Dilated cardiomyopathy 1P6 tests
  • Dilated cardiomyopathy 1R5 tests
  • Dilated cardiomyopathy 1S7 tests
  • Dilated cardiomyopathy 1T1 test
  • Dilated cardiomyopathy 1U7 tests
  • Dilated cardiomyopathy 1V4 tests
  • Dilated cardiomyopathy 1W5 tests
  • Dilated cardiomyopathy 1X8 tests
  • Dilated cardiomyopathy 1Y6 tests
  • Dilated cardiomyopathy 1Z5 tests
  • Dilated cardiomyopathy 2A5 tests
  • Dilated cardiomyopathy 2B3 tests
  • Dilated cardiomyopathy 3B8 tests
  • Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome20 tests
  • Dimethylglycine dehydrogenase deficiency1 test
  • Disorder due cytochrome p450 CYP1A21 test
  • Disorder due cytochrome p450 CYP2D6 variant2 tests
  • Disorder due cytochrome p450 CYP3A41 test
  • Distal arthrogryposis type 2B14 tests
  • Distal arthrogryposis type 5D4 tests
  • Distal myopathy with anterior tibial onset9 tests
  • Distal myopathy with posterior leg and anterior hand involvement7 tests
  • Distal myopathy, Tateyama type9 tests
  • Distichiasis-lymphedema syndrome6 tests
  • DK1-congenital disorder of glycosylation6 tests
  • DNA ligase IV deficiency4 tests
  • DOCK2 deficiency1 test
  • Dominant beta-thalassemia7 tests
  • Dominant dystrophic epidermolysis bullosa with absence of skin4 tests
  • Donnai-Barrow syndrome4 tests
  • Dopa-responsive dystonia due to sepiapterin reductase deficiency3 tests
  • Dopamine beta-hydroxylase deficiency1 test
  • Double Y syndrome2 tests
  • Dowling-Degos disease 11 test
  • Dowling-Degos disease 21 test
  • Dowling-Degos disease 41 test
  • Doyne honeycomb retinal dystrophy5 tests
  • DPAGT1-congenital disorder of glycosylation6 tests
  • DPM3-congenital disorder of glycosylation5 tests
  • Drash syndrome13 tests
  • Duane retraction syndrome 21 test
  • Duane retraction syndrome 3 with or without deafness2 tests
  • Duane-radial ray syndrome7 tests
  • Dubin-Johnson syndrome3 tests
  • Duchenne muscular dystrophy8 tests
  • Dyggve-Melchior-Clausen syndrome3 tests
  • DYRK1A-related intellectual disability syndrome5 tests
  • Dyschromatosis universalis hereditaria 11 test
  • Dyschromatosis universalis hereditaria 32 tests
  • Dyskeratosis congenita1 test
  • Dyskeratosis congenita, autosomal dominant 18 tests
  • Dyskeratosis congenita, autosomal dominant 25 tests
  • Dyskeratosis congenita, autosomal dominant 34 tests
  • Dyskeratosis congenita, autosomal dominant 64 tests
  • Dyskeratosis congenita, autosomal recessive 15 tests
  • Dyskeratosis congenita, autosomal recessive 24 tests
  • Dyskeratosis congenita, autosomal recessive 32 tests
  • Dyskeratosis congenita, autosomal recessive 55 tests
  • Dyskeratosis congenita, autosomal recessive 63 tests
  • Dyskeratosis congenita, X-linked5 tests
  • Dyskinesia with orofacial involvement, autosomal dominant3 tests
  • Dyskinesia, limb and orofacial, infantile-onset2 tests
  • Dyslexia, susceptibility to, 11 test
  • Dysmorphic features3 tests
  • Dystonia 127 tests
  • Dystonia 164 tests
  • Dystonia 243 tests
  • Dystonia 253 tests
  • Dystonia 277 tests
  • Dystonia 28, childhood-onset1 test
  • Dystonia 55 tests
  • Dystonia 912 tests
  • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities3 tests
  • Dystonic disorder1 test
  • Early myoclonic encephalopathy2 tests
  • Early-onset generalized limb-onset dystonia4 tests
  • Early-onset myopathy with fatal cardiomyopathy11 tests
  • Early-onset Parkinson disease 203 tests
  • Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome1 test
  • Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome2 tests
  • Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome2 tests
  • EAST syndrome4 tests
  • Ectodermal dysplasia1 test
  • Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant4 tests
  • Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive4 tests
  • Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant3 tests
  • Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive3 tests
  • Ectodermal dysplasia 4, hair/nail type1 test
  • Ectodermal dysplasia 7, hair/nail type2 tests
  • Ectodermal dysplasia 9, hair/nail type1 test
  • Ectodermal dysplasia and immunodeficiency 14 tests
  • Ectodermal dysplasia and immunodeficiency 23 tests
  • Ectodermal dysplasia-syndactyly syndrome 11 test
  • Ectopia lentis 1, isolated, autosomal dominant4 tests
  • Ectopia lentis 2, isolated, autosomal recessive3 tests
  • Ectopia lentis et pupillae3 tests
  • Ectrodactyly1 test
  • Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 38 tests
  • EEM syndrome10 tests
  • EGFR-related lung cancer2 tests
  • Ehlers-Danlos syndrome due to tenascin-X deficiency3 tests
  • Ehlers-Danlos syndrome progeroid type2 tests
  • Ehlers-Danlos syndrome, arthrochalasis type4 tests
  • Ehlers-Danlos syndrome, cardiac valvular type4 tests
  • Ehlers-Danlos syndrome, classic type3 tests
  • Ehlers-Danlos syndrome, classic type, 11 test
  • Ehlers-Danlos syndrome, classic type, 24 tests
  • Ehlers-Danlos syndrome, dermatosparaxis type2 tests
  • Ehlers-Danlos syndrome, kyphoscoliotic and deafness type3 tests
  • Ehlers-Danlos syndrome, kyphoscoliotic type 13 tests
  • Ehlers-Danlos syndrome, musculocontractural type5 tests
  • Ehlers-Danlos syndrome, musculocontractural type 21 test
  • Ehlers-Danlos syndrome, spondylocheirodysplastic type1 test
  • Ehlers-Danlos syndrome, spondylodysplastic type, 23 tests
  • Ehlers-Danlos syndrome, type 42 tests
  • Eichsfeld type congenital muscular dystrophy6 tests
  • Eiken syndrome1 test
  • Elevated circulating creatine kinase concentration9 tests
  • Elliptocytosis 11 test
  • Elliptocytosis 21 test
  • Ellis-van Creveld syndrome10 tests
  • Emery-Dreifuss muscular dystrophy 3, autosomal recessive20 tests
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant8 tests
  • Emery-Dreifuss muscular dystrophy 5, autosomal dominant6 tests
  • Emery-Dreifuss muscular dystrophy 7, autosomal dominant7 tests
  • Encephalocraniocutaneous lipomatosis13 tests
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 24 tests
  • Encephalopathy due to GLUT1 deficiency12 tests
  • Encephalopathy due to prosaposin deficiency5 tests
  • Encephalopathy, acute, infection-induced, susceptibility to, 49 tests
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 14 tests
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 11 test
  • Encephalopathy, progressive, with amyotrophy and optic atrophy6 tests
  • Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome4 tests
  • Endocrine-cerebro-osteodysplasia syndrome1 test
  • Endometrial carcinoma20 tests
  • Enhanced S-cone syndrome3 tests
  • Enterokinase deficiency1 test
  • Epidermal nevus25 tests
  • Epidermodysplasia verruciformis1 test
  • Epidermodysplasia verruciformis, susceptibility to, 12 tests
  • Epidermodysplasia verruciformis, susceptibility to, 21 test
  • Epidermodysplasia verruciformis, susceptibility to, 41 test
  • Epidermolysis bullosa pruriginosa4 tests
  • Epidermolysis bullosa simplex 1A, generalized severe5 tests
  • Epidermolysis bullosa simplex 1C, localized6 tests
  • Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive5 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 deficiency2 tests
  • Epidermolysis bullosa simplex with migratory circinate erythema1 test
  • Epidermolysis bullosa simplex with mottled pigmentation1 test
  • Epidermolysis bullosa simplex with nail dystrophy5 tests
  • Epidermolysis bullosa simplex, Koebner type5 tests
  • Epidermolysis bullosa simplex, Ogna type5 tests
  • Epidermolytic palmoplantar keratoderma5 tests
  • Epilepsy, childhood absence 22 tests
  • Epilepsy, childhood absence, susceptibility to, 53 tests
  • Epilepsy, childhood absence, susceptibility to, 63 tests
  • Epilepsy, early-onset, vitamin B6-dependent2 tests
  • Epilepsy, familial focal, with variable foci 13 tests
  • Epilepsy, familial focal, with variable foci 21 test
  • Epilepsy, familial focal, with variable foci 31 test
  • Epilepsy, familial temporal lobe, 14 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 101 test
  • Epilepsy, idiopathic generalized, susceptibility to, 115 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 121 test
  • Epilepsy, idiopathic generalized, susceptibility to, 132 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 141 test
  • Epilepsy, idiopathic generalized, susceptibility to, 85 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 95 tests
  • Epilepsy, juvenile absence, susceptibility to, 11 test
  • Epilepsy, juvenile myoclonic, susceptibility to, 101 test
  • Epilepsy, progressive myoclonic, 1B3 tests
  • Epileptic encephalopathy1 test
  • Epiphyseal dysplasia, multiple, 24 tests
  • Epiphyseal dysplasia, multiple, 33 tests
  • Epiphyseal dysplasia, multiple, 64 tests
  • Episodic ataxia type 17 tests
  • Episodic ataxia type 210 tests
  • Episodic ataxia type 55 tests
  • Episodic ataxia type 65 tests
  • Episodic kinesigenic dyskinesia 17 tests
  • Episodic pain syndrome, familial, 25 tests
  • Epithelial basement membrane dystrophy2 tests
  • Erythrocytosis1 test
  • Erythrocytosis, familial, 31 test
  • Erythrocytosis, familial, 41 test
  • Erythrokeratoderma variabilis progressiva1 test
  • Erythrokeratodermia variabilis et progressiva 16 tests
  • Erythrokeratodermia variabilis et progressiva 22 tests
  • Erythrokeratodermia variabilis et progressiva 42 tests
  • Essential fructosuria1 test
  • Essential hypertension7 tests
  • Essential pentosuria1 test
  • Ethylmalonic encephalopathy3 tests
  • Even-plus syndrome1 test
  • Ewing sarcoma1 test
  • Exercise intolerance, riboflavin-responsive1 test
  • Exercise-induced hyperinsulinism3 tests
  • Exostoses, multiple, type 25 tests
  • Exudative vitreoretinopathy 110 tests
  • Exudative vitreoretinopathy 2, X-linked7 tests
  • Exudative vitreoretinopathy 49 tests
  • Exudative vitreoretinopathy 53 tests
  • Exudative vitreoretinopathy 62 tests
  • Fabry disease11 tests
  • Facial dysmorphism-immunodeficiency-livedo-short stature syndrome3 tests
  • Facial paresis, hereditary congenital, 32 tests
  • Facioscapulohumeral muscular dystrophy 23 tests
  • Factor 5 and Factor VIII, combined deficiency of, 22 tests
  • Factor H deficiency4 tests
  • Factor V and factor VIII, combined deficiency of, type 12 tests
  • Factor V deficiency5 tests
  • Factor VII deficiency5 tests
  • Factor X deficiency3 tests
  • Factor XII deficiency disease3 tests
  • Factor XIII, A subunit, deficiency of3 tests
  • Factor XIII, b subunit, deficiency of3 tests
  • FADD-related immunodeficiency2 tests
  • Familial acute necrotizing encephalopathy2 tests
  • Familial adenomatous polyposis 19 tests
  • Familial adenomatous polyposis 28 tests
  • Familial adenomatous polyposis 33 tests
  • Familial adenomatous polyposis 45 tests
  • Familial amyloid nephropathy with urticaria AND deafness4 tests
  • Familial apolipoprotein C-II deficiency3 tests
  • Familial atrial myxoma5 tests
  • Familial benign flecked retina4 tests
  • Familial benign pemphigus1 test
  • Familial cancer of breast59 tests
  • Familial chronic mucocutaneous candidiasis2 tests
  • Familial cold autoinflammatory syndrome 14 tests
  • Familial cold autoinflammatory syndrome 22 tests
  • Familial cold autoinflammatory syndrome 32 tests
  • Familial cold autoinflammatory syndrome 41 test
  • Familial colorectal cancer1 test
  • Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome5 tests
  • Familial cylindromatosis2 tests
  • Familial digital arthropathy-brachydactyly9 tests
  • Familial dysautonomia5 tests
  • Familial dysfibrinogenemia9 tests
  • Familial encephalopathy with neuroserpin inclusion bodies1 test
  • Familial episodic pain syndrome with predominantly lower limb involvement3 tests
  • Familial episodic pain syndrome with predominantly upper body involvement3 tests
  • Familial expansile osteolysis5 tests
  • Familial gestational hyperthyroidism1 test
  • Familial hemophagocytic lymphohistiocytosis 25 tests
  • Familial hemophagocytic lymphohistiocytosis 34 tests
  • Familial hemophagocytic lymphohistiocytosis 44 tests
  • Familial hemophagocytic lymphohistiocytosis 56 tests
  • Familial hyperaldosteronism type II5 tests
  • Familial hyperaldosteronism type III7 tests
  • Familial hyperthyroidism due to mutations in TSH receptor1 test
  • Familial hypobetalipoproteinemia 12 tests
  • Familial hypocalciuric hypercalcemia 15 tests
  • Familial hypocalciuric hypercalcemia 23 tests
  • Familial hypocalciuric hypercalcemia 31 test
  • Familial hypokalemia-hypomagnesemia2 tests
  • Familial hypoparathyroidism5 tests
  • Familial infantile myasthenia5 tests
  • Familial infantile myoclonic epilepsy4 tests
  • Familial isolated congenital asplenia1 test
  • Familial isolated deficiency of vitamin E5 tests
  • Familial juvenile hyperuricemic nephropathy type 14 tests
  • Familial juvenile hyperuricemic nephropathy type 24 tests
  • Familial Mediterranean fever7 tests
  • Familial Mediterranean fever, autosomal dominant7 tests
  • Familial medullary thyroid carcinoma8 tests
  • Familial meningioma28 tests
  • Familial multiple trichoepitheliomata2 tests
  • Familial partial lipodystrophy, Dunnigan type20 tests
  • Familial porphyria cutanea tarda6 tests
  • Familial pseudohyperkalemia2 tests
  • Familial pulmonary capillary hemangiomatosis2 tests
  • Familial renal glucosuria2 tests
  • Familial retinal arterial macroaneurysm1 test
  • Familial scaphocephaly syndrome, McGillivray type14 tests
  • Familial spontaneous pneumothorax5 tests
  • Familial steroid-resistant nephrotic syndrome with sensorineural deafness4 tests
  • Familial temporal lobe epilepsy 51 test
  • Familial temporal lobe epilepsy 73 tests
  • Familial thyroid dyshormonogenesis 12 tests
  • Familial type 3 hyperlipoproteinemia3 tests
  • Familial type 5 hyperlipoproteinemia3 tests
  • Familial visceral amyloidosis, Ostertag type11 tests
  • Familial X-linked hypophosphatemic vitamin D refractory rickets3 tests
  • Fanconi anemia complementation group A6 tests
  • Fanconi anemia complementation group B5 tests
  • Fanconi anemia complementation group C8 tests
  • Fanconi anemia complementation group D111 tests
  • Fanconi anemia complementation group D25 tests
  • Fanconi anemia complementation group E4 tests
  • Fanconi anemia complementation group F4 tests
  • Fanconi anemia complementation group G5 tests
  • Fanconi anemia complementation group I4 tests
  • Fanconi anemia complementation group J7 tests
  • Fanconi anemia complementation group L6 tests
  • Fanconi anemia complementation group N8 tests
  • Fanconi anemia complementation group O7 tests
  • Fanconi anemia complementation group P5 tests
  • Fanconi anemia complementation group Q5 tests
  • Fanconi anemia complementation group R2 tests
  • Fanconi anemia complementation group T2 tests
  • Fanconi anemia complementation group U4 tests
  • Fanconi renotubular syndrome 22 tests
  • Fanconi renotubular syndrome 32 tests
  • Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young6 tests
  • Fanconi syndrome1 test
  • Fanconi-Bickel syndrome2 tests
  • Farber lipogranulomatosis3 tests
  • Fatal familial insomnia9 tests
  • Fatal infantile hypertonic myofibrillar myopathy9 tests
  • Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 36 tests
  • Fatty acyl-CoA reductase 1 deficiency1 test
  • Febrile seizures, familial, 111 test
  • Febrile seizures, familial, 47 tests
  • Feingold syndrome type 14 tests
  • Feingold syndrome type 21 test
  • Fetal akinesia deformation sequence 19 tests
  • Fetal akinesia deformation sequence 21 test
  • Fetal akinesia-cerebral and retinal hemorrhage syndrome9 tests
  • FG syndrome 17 tests
  • FG syndrome 29 tests
  • FG syndrome 46 tests
  • FGFR2-related bent bone dysplasia14 tests
  • Fibrochondrogenesis 16 tests
  • Fibrochondrogenesis 26 tests
  • Fibromatosis, gingival, 16 tests
  • FIBROMUSCULAR DYSPLASIA, MULTIFOCAL1 test
  • Fibrosis of extraocular muscles, congenital, 21 test
  • Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement4 tests
  • Fibrosis of extraocular muscles, congenital, 51 test
  • Fibrous dysplasia of jaw3 tests
  • Filippi syndrome2 tests
  • Finnish congenital nephrotic syndrome5 tests
  • Fish-eye disease4 tests
  • Floating-Harbor syndrome1 test
  • Fluorouracil response1 test
  • Focal dermal hypoplasia4 tests
  • Focal facial dermal dysplasia type III2 tests
  • Focal segmental glomerulosclerosis1 test
  • Focal segmental glomerulosclerosis 15 tests
  • Focal segmental glomerulosclerosis 24 tests
  • Focal segmental glomerulosclerosis 3, susceptibility to4 tests
  • Focal segmental glomerulosclerosis 4, susceptibility to3 tests
  • Focal segmental glomerulosclerosis 57 tests
  • Focal segmental glomerulosclerosis 64 tests
  • Focal segmental glomerulosclerosis 76 tests
  • Focal segmental glomerulosclerosis 83 tests
  • Focal segmental glomerulosclerosis 95 tests
  • Follicular lymphoma1 test
  • Follicular lymphoma, susceptibility to, 11 test
  • Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome2 tests
  • Foveal hypoplasia 18 tests
  • Fragile X syndrome9 tests
  • Fragile X-associated tremor/ataxia syndrome9 tests
  • Frank-Ter Haar syndrome3 tests
  • Fraser syndrome 16 tests
  • Fraser syndrome 24 tests
  • Fraser syndrome 33 tests
  • Frasier syndrome13 tests
  • FRAXE1 test
  • Freeman-Sheldon syndrome6 tests
  • Friedreich ataxia 19 tests
  • Frontometaphyseal dysplasia 19 tests
  • Frontometaphyseal dysplasia 21 test
  • Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome2 tests
  • Frontonasal dysplasia with alopecia and genital anomaly3 tests
  • Frontorhiny4 tests
  • Frontotemporal dementia9 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 11 test
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 28 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 33 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 43 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 68 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 73 tests
  • Fructose-biphosphatase deficiency3 tests
  • Fucosidosis2 tests
  • Fuhrmann syndrome2 tests
  • Fumarase deficiency7 tests
  • Galactosylceramide beta-galactosidase deficiency9 tests
  • Gallbladder disease 44 tests
  • Galloway-Mowat syndrome 14 tests
  • Gamma-aminobutyric acid transaminase deficiency5 tests
  • Gamma-glutamylcysteine synthetase deficiency2 tests
  • Gapo syndrome1 test
  • Gastric cancer3 tests
  • Gastric lymphoma1 test
  • Gastrointestinal stromal tumor15 tests
  • Gaucher disease perinatal lethal13 tests
  • Gaucher disease type I13 tests
  • Gaucher disease type II13 tests
  • Gaucher disease type III13 tests
  • Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome13 tests
  • Gaze palsy, familial horizontal, with progressive scoliosis 12 tests
  • Geleophysic dysplasia 14 tests
  • Geleophysic dysplasia 24 tests
  • Geleophysic dysplasia 31 test
  • Generalized dominant dystrophic epidermolysis bullosa4 tests
  • Generalized epilepsy with febrile seizures plus, type 17 tests
  • Generalized epilepsy with febrile seizures plus, type 26 tests
  • Generalized epilepsy with febrile seizures plus, type 75 tests
  • Generalized epilepsy with febrile seizures plus, type 92 tests
  • Generalized epilepsy-paroxysmal dyskinesia syndrome3 tests
  • Generalized juvenile polyposis/juvenile polyposis coli13 tests
  • Generalized pustular psoriasis2 tests
  • Genetic predisposition2 tests
  • Genitopatellar syndrome3 tests
  • Gerstmann-Straussler-Scheinker syndrome9 tests
  • Ghosal hematodiaphyseal dysplasia2 tests
  • Giant axonal neuropathy 14 tests
  • Gilbert syndrome7 tests
  • Gillespie syndrome3 tests
  • Gillessen-Kaesbach-Nishimura syndrome4 tests
  • Glanzmann thrombasthenia4 tests
  • Glaucoma 1, open angle, A2 tests
  • Glaucoma 1, open angle, G1 test
  • Glaucoma 3, primary congenital, D2 tests
  • Glaucoma 3, primary infantile, B4 tests
  • Glaucoma 3A4 tests
  • Glaucoma, normal tension, susceptibility to11 tests
  • Glioblastoma1 test
  • Glioma2 tests
  • Glioma susceptibility 115 tests
  • Glioma susceptibility 217 tests
  • Glioma susceptibility 311 tests
  • Glioma susceptibility 92 tests
  • Global developmental delay3 tests
  • Globozoospermia4 tests
  • Glomerulopathy with fibronectin deposits 21 test
  • Glomuvenous malformation1 test
  • Glucocorticoid deficiency 11 test
  • Glucocorticoid deficiency 22 tests
  • Glucocorticoid deficiency 41 test
  • Glucocorticoid deficiency with achalasia3 tests
  • Glucocorticoid resistance2 tests
  • Glucocorticoid-remediable aldosteronism3 tests
  • Glucose-6-phosphate transport defect7 tests
  • Glutaric aciduria, type 16 tests
  • Glutaryl-CoA oxidase deficiency3 tests
  • Glutathione synthetase deficiency without 5-oxoprolinuria4 tests
  • Gluthathione peroxidase deficiency2 tests
  • Gluthathione synthetase deficiency4 tests
  • Glycine N-methyltransferase deficiency1 test
  • Glycogen storage disease due to glucose-6-phosphatase deficiency type IA6 tests
  • Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency1 test
  • Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency3 tests
  • Glycogen storage disease due to muscle and heart glycogen synthase deficiency4 tests
  • Glycogen storage disease due to muscle beta-enolase deficiency3 tests
  • Glycogen storage disease due to phosphoglycerate kinase 1 deficiency4 tests
  • Glycogen storage disease IXa14 tests
  • Glycogen storage disease IXb3 tests
  • Glycogen storage disease IXc4 tests
  • Glycogen storage disease IXd3 tests
  • Glycogen storage disease type III10 tests
  • Glycogen storage disease type X4 tests
  • Glycogen storage disease XV4 tests
  • Glycogen storage disease, type II10 tests
  • Glycogen storage disease, type IV11 tests
  • Glycogen storage disease, type V7 tests
  • Glycogen storage disease, type VI3 tests
  • Glycogen storage disease, type VII5 tests
  • Glycogen storage disorder due to hepatic glycogen synthase deficiency3 tests
  • GM1 gangliosidosis type 27 tests
  • GM1 gangliosidosis type 37 tests
  • GM3 synthase deficiency1 test
  • Gnathodiaphyseal dysplasia6 tests
  • Gnb5-related intellectual disability-cardiac arrhythmia syndrome1 test
  • GNE myopathy7 tests
  • Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors3 tests
  • Goldberg-Shprintzen megacolon syndrome2 tests
  • Goldenhar syndrome1 test
  • Gonadotropin-independent familial sexual precocity6 tests
  • Gordon syndrome5 tests
  • Gorlin syndrome9 tests
  • GRACILE syndrome6 tests
  • Graft-versus-host disease, susceptibility to2 tests
  • Granulocytopenia with immunoglobulin abnormality1 test
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative3 tests
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 12 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-linked3 tests
  • Gray platelet syndrome3 tests
  • Grebe syndrome4 tests
  • Greenberg dysplasia4 tests
  • Greig cephalopolysyndactyly syndrome9 tests
  • Griscelli syndrome type 11 test
  • Griscelli syndrome type 25 tests
  • Griscelli syndrome type 31 test
  • 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 resistance1 test
  • Growth delay due to insulin-like growth factor type 1 deficiency2 tests
  • Growth hormone insensitivity with immune dysregulation 1, autosomal recessive3 tests
  • GSTM1-related lung cancer1 test
  • GTP cyclohydrolase I deficiency5 tests
  • Guillain-Barre syndrome, familial5 tests
  • Guttmacher syndrome1 test
  • H syndrome3 tests
  • Haim-Munk syndrome4 tests
  • Hajdu-Cheney syndrome5 tests
  • Hamartoma of hypothalamus9 tests
  • Hand-foot-genital syndrome1 test
  • Harel-Yoon syndrome2 tests
  • Hartsfield-Bixler-Demyer syndrome1 test
  • Hashimoto thyroiditis4 tests
  • Hawkinsinuria2 tests
  • Hb SS disease7 tests
  • Hearing loss, X-linked 17 tests
  • Hearing loss, X-linked 41 test
  • Heart and brain malformation syndrome1 test
  • Heart defect - tongue hamartoma - polysyndactyly syndrome5 tests
  • Heart-hand syndrome, Slovenian type20 tests
  • Hecht syndrome5 tests
  • Heimler syndrome 114 tests
  • Heimler syndrome 29 tests
  • Heinz body anemia10 tests
  • Helicobacter pylori infection, susceptibility to2 tests
  • Helicoid peripapillary chorioretinal degeneration2 tests
  • HELIX syndrome1 test
  • Heme oxygenase 1 deficiency1 test
  • Hemochromatosis type 17 tests
  • Hemochromatosis type 2A1 test
  • Hemochromatosis type 2B4 tests
  • Hemochromatosis type 34 tests
  • Hemochromatosis type 43 tests
  • Hemochromatosis type 51 test
  • Hemoglobin H disease3 tests
  • Hemolytic anemia due to adenylate kinase deficiency2 tests
  • Hemolytic anemia due to glucophosphate isomerase deficiency2 tests
  • Hemolytic anemia due to glutathione reductase deficiency2 tests
  • Hemolytic anemia due to hexokinase deficiency8 tests
  • Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency2 tests
  • Hemolytic uremic syndrome, atypical, susceptibility to, 16 tests
  • Hennekam lymphangiectasia-lymphedema syndrome 14 tests
  • Hennekam lymphangiectasia-lymphedema syndrome 23 tests
  • Heparin cofactor II deficiency1 test
  • Hepatic adenomas, familial6 tests
  • Hepatic methionine adenosyltransferase deficiency2 tests
  • Hepatic veno-occlusive disease-immunodeficiency syndrome1 test
  • Hepatitis B virus, susceptibility to6 tests
  • Hepatitis C virus, susceptibility to4 tests
  • Hepatocellular carcinoma32 tests
  • Hepatoencephalopathy due to combined oxidative phosphorylation defect type 12 tests
  • Hereditary acrodermatitis enteropathica1 test
  • Hereditary angioedema type 12 tests
  • Hereditary angioedema type 33 tests
  • Hereditary antithrombin deficiency3 tests
  • Hereditary ataxia1 test
  • Hereditary cerebral amyloid angiopathy, Icelandic type2 tests
  • Hereditary Chorea1 test
  • Hereditary coproporphyria4 tests
  • Hereditary cryohydrocytosis with reduced stomatin12 tests
  • Hereditary diffuse gastric adenocarcinoma19 tests
  • Hereditary diffuse leukoencephalopathy with spheroids4 tests
  • Hereditary disease196 tests
  • Hereditary factor IX deficiency disease4 tests
  • Hereditary factor VIII deficiency disease4 tests
  • Hereditary factor XI deficiency disease5 tests
  • Hereditary fructosuria5 tests
  • Hereditary hyperferritinemia with congenital cataracts7 tests
  • Hereditary insensitivity to pain with anhidrosis3 tests
  • Hereditary intrinsic factor deficiency1 test
  • Hereditary leiomyomatosis and renal cell cancer7 tests
  • Hereditary liability to pressure palsies5 tests
  • Hereditary lymphedema type I4 tests
  • Hereditary motor and sensory neuropathy with optic atrophy9 tests
  • Hereditary motor and sensory neuropathy, Okinawa type3 tests
  • Hereditary myopathy with lactic acidosis due to ISCU deficiency4 tests
  • Hereditary optic neuropathy1 test
  • Hereditary pancreatitis14 tests
  • Hereditary pulmonary alveolar proteinosis2 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 73 tests
  • Hereditary sensory and autonomic neuropathy with spastic paraplegia3 tests
  • Hereditary sensory neuropathy-deafness-dementia syndrome4 tests
  • Hereditary spastic paraplegia1 test
  • Hereditary spastic paraplegia 105 tests
  • Hereditary spastic paraplegia 115 tests
  • Hereditary spastic paraplegia 124 tests
  • Hereditary spastic paraplegia 137 tests
  • Hereditary spastic paraplegia 154 tests
  • Hereditary spastic paraplegia 176 tests
  • Hereditary spastic paraplegia 181 test
  • Hereditary spastic paraplegia 211 tests
  • Hereditary spastic paraplegia 233 tests
  • Hereditary spastic paraplegia 264 tests
  • Hereditary spastic paraplegia 282 tests
  • Hereditary spastic paraplegia 305 tests
  • Hereditary spastic paraplegia 317 tests
  • Hereditary spastic paraplegia 332 tests
  • Hereditary spastic paraplegia 357 tests
  • Hereditary spastic paraplegia 398 tests
  • Hereditary spastic paraplegia 3A7 tests
  • Hereditary spastic paraplegia 47 tests
  • Hereditary spastic paraplegia 425 tests
  • Hereditary spastic paraplegia 432 tests
  • Hereditary spastic paraplegia 4410 tests
  • Hereditary spastic paraplegia 451 test
  • Hereditary spastic paraplegia 466 tests
  • Hereditary spastic paraplegia 472 tests
  • Hereditary spastic paraplegia 482 tests
  • Hereditary spastic paraplegia 491 test
  • Hereditary spastic paraplegia 502 tests
  • Hereditary spastic paraplegia 512 tests
  • Hereditary spastic paraplegia 532 tests
  • Hereditary spastic paraplegia 541 test
  • Hereditary spastic paraplegia 553 tests
  • Hereditary spastic paraplegia 563 tests
  • Hereditary spastic paraplegia 573 tests
  • Hereditary spastic paraplegia 5A4 tests
  • Hereditary spastic paraplegia 63 tests
  • Hereditary spastic paraplegia 611 test
  • Hereditary spastic paraplegia 632 tests
  • Hereditary spastic paraplegia 642 tests
  • Hereditary spastic paraplegia 78 tests
  • Hereditary spastic paraplegia 721 test
  • Hereditary spastic paraplegia 745 tests
  • Hereditary spastic paraplegia 772 tests
  • Hereditary spastic paraplegia 86 tests
  • Hereditary spastic paraplegia 9A6 tests
  • Hereditary spherocytosis type 11 test
  • Hereditary spherocytosis type 21 test
  • Hereditary spherocytosis type 31 test
  • Hereditary spherocytosis type 42 tests
  • Hereditary spherocytosis type 52 tests
  • Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX15 tests
  • Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency1 test
  • Hereditary xanthinuria type 11 test
  • Hermansky-Pudlak syndrome 16 tests
  • Hermansky-Pudlak syndrome 103 tests
  • Hermansky-Pudlak syndrome 29 tests
  • Hermansky-Pudlak syndrome 35 tests
  • Hermansky-Pudlak syndrome 46 tests
  • Hermansky-Pudlak syndrome 55 tests
  • Hermansky-Pudlak syndrome 67 tests
  • Hermansky-Pudlak syndrome 75 tests
  • Hermansky-Pudlak syndrome 86 tests
  • Hermansky-Pudlak syndrome 93 tests
  • Herpes simplex encephalitis, susceptibility to, 11 test
  • Herpes simplex encephalitis, susceptibility to, 31 test
  • Herpes simplex encephalitis, susceptibility to, 41 test
  • Herpes simplex encephalitis, susceptibility to, 71 test
  • Heterotaxy, visceral, 1, X-linked6 tests
  • Heterotaxy, visceral, 2, autosomal3 tests
  • Heterotaxy, visceral, 4, autosomal3 tests
  • Heterotaxy, visceral, 5, autosomal2 tests
  • Heterotaxy, visceral, 6, autosomal1 test
  • Heterotaxy, visceral, 7, autosomal1 test
  • Heterotaxy, visceral, 8, autosomal2 tests
  • Heterotopia, periventricular, X-linked dominant9 tests
  • Heyn-Sproul-Jackson syndrome1 test
  • Hidrotic ectodermal dysplasia syndrome5 tests
  • High molecular weight kininogen deficiency1 test
  • Hirschsprung disease, cardiac defects, and autonomic dysfunction1 test
  • Hirschsprung disease, susceptibility to, 18 tests
  • Hirschsprung disease, susceptibility to, 25 tests
  • Hirschsprung disease, susceptibility to, 34 tests
  • Hirschsprung disease, susceptibility to, 46 tests
  • Histidinemia1 test
  • Histiocytic medullary reticulosis11 tests
  • Histiocytoid cardiomyopathy1 test
  • HNSHA due to aldolase A deficiency3 tests
  • Holocarboxylase synthetase deficiency2 tests
  • Holoprosencephaly 113 tests
  • Holoprosencephaly 24 tests
  • Holoprosencephaly 38 tests
  • Holoprosencephaly 42 tests
  • Holoprosencephaly 53 tests
  • Holoprosencephaly 75 tests
  • Holoprosencephaly 97 tests
  • Holoprosencephaly sequence2 tests
  • Holt-Oram syndrome2 tests
  • Homocystinuria due to methylene tetrahydrofolate reductase deficiency6 tests
  • HSD10 mitochondrial disease3 tests
  • Human HOXA1 syndromes2 tests
  • Huntington disease2 tests
  • Huntington disease-like 19 tests
  • Huntington disease-like 21 test
  • Hurler syndrome6 tests
  • Hurthle cell carcinoma of thyroid2 tests
  • Hutchinson-Gilford syndrome20 tests
  • Hyaline fibromatosis syndrome2 tests
  • Hydatidiform mole1 test
  • Hydatidiform mole, recurrent, 11 test
  • Hydatidiform mole, recurrent, 21 test
  • Hydrocephalus, nonsyndromic, autosomal recessive 12 tests
  • Hydrocephalus, nonsyndromic, autosomal recessive 21 test
  • Hydrolethalus syndrome 13 tests
  • Hydrolethalus syndrome 210 tests
  • HYDROPS FETALIS, ALPHA-THALASSEMIA-RELATED1 test
  • Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome3 tests
  • Hydroxykynureninuria1 test
  • Hyper-IgE recurrent infection syndrome 18 tests
  • Hyper-IgE recurrent infection syndrome 3, autosomal recessive2 tests
  • Hyper-IgM syndrome type 14 tests
  • Hyper-IgM syndrome type 23 tests
  • Hyper-IgM syndrome type 32 tests
  • Hyper-IgM syndrome type 53 tests
  • Hyperaldosteronism, familial, type IV3 tests
  • Hyperalphalipoproteinemia 11 test
  • Hyperammonemia, type III1 test
  • Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency4 tests
  • Hypercalcemia, infantile, 11 test
  • Hypercalcemia, infantile, 22 tests
  • Hypercholanemia, familial 14 tests
  • Hypercholesterolemia, autosomal dominant, 31 test
  • Hypercholesterolemia, autosomal dominant, type B2 tests
  • Hypercholesterolemia, familial, 16 tests
  • Hypercholesterolemia, familial, 42 tests
  • Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency1 test
  • Hyperekplexia 14 tests
  • Hyperekplexia 22 tests
  • Hyperekplexia 32 tests
  • Hypereosinophilic syndrome, idiopathic, resistant to imatinib1 test
  • Hyperglycinuria2 tests
  • Hyperimmunoglobulin D with periodic fever6 tests
  • Hyperinsulinemic hypoglycemia, familial, 112 tests
  • Hyperinsulinemic hypoglycemia, familial, 29 tests
  • Hyperinsulinemic hypoglycemia, familial, 43 tests
  • Hyperinsulinism due to glucokinase deficiency7 tests
  • Hyperinsulinism due to INSR deficiency5 tests
  • Hyperinsulinism-hyperammonemia syndrome3 tests
  • Hyperkalemic periodic paralysis7 tests
  • Hyperlipidemia, familial combined, LPL related3 tests
  • Hyperlipoproteinemia type IV1 test
  • Hyperlipoproteinemia, type 1D1 test
  • Hyperlipoproteinemia, type I3 tests
  • Hypermanganesemia with dystonia 21 test
  • Hypermanganesemia with dystonia, polycythemia, and cirrhosis3 tests
  • Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase1 test
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome2 tests
  • Hyperparathyroidism 15 tests
  • Hyperparathyroidism 2 with jaw tumors5 tests
  • Hyperparathyroidism 44 tests
  • Hyperphenylalaninemia1 test
  • Hyperphosphatasemia tarda3 tests
  • Hyperphosphatasemia with bone disease1 test
  • Hyperphosphatasia with intellectual disability syndrome 13 tests
  • Hyperphosphatasia with intellectual disability syndrome 22 tests
  • Hyperphosphatasia with intellectual disability syndrome 31 test
  • Hyperphosphatasia-intellectual disability syndrome1 test
  • Hyperproinsulinemia6 tests
  • Hypertensive disorder1 test
  • Hyperthyroxinemia, dystransthyretinemic11 tests
  • Hyperthyroxinemia, familial dysalbuminemic1 test
  • Hypertrichotic osteochondrodysplasia Cantu type6 tests
  • Hypertriglyceridemia, familial3 tests
  • Hypertrophic cardiomyopathy 115 tests
  • Hypertrophic cardiomyopathy 105 tests
  • Hypertrophic cardiomyopathy 115 tests
  • Hypertrophic cardiomyopathy 125 tests
  • Hypertrophic cardiomyopathy 135 tests
  • Hypertrophic cardiomyopathy 147 tests
  • Hypertrophic cardiomyopathy 155 tests
  • Hypertrophic cardiomyopathy 164 tests
  • Hypertrophic cardiomyopathy 174 tests
  • Hypertrophic cardiomyopathy 186 tests
  • Hypertrophic cardiomyopathy 191 test
  • Hypertrophic cardiomyopathy 27 tests
  • Hypertrophic cardiomyopathy 205 tests
  • Hypertrophic cardiomyopathy 2511 tests
  • Hypertrophic cardiomyopathy 267 tests
  • Hypertrophic cardiomyopathy 36 tests
  • Hypertrophic cardiomyopathy 48 tests
  • Hypertrophic cardiomyopathy 69 tests
  • Hypertrophic cardiomyopathy 75 tests
  • Hypertrophic cardiomyopathy 85 tests
  • Hypertrophic cardiomyopathy 911 tests
  • Hypertrophic osteoarthropathy, primary, autosomal recessive, 11 test
  • Hypertrophic osteoarthropathy, primary, autosomal recessive, 21 test
  • Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome1 test
  • Hyperuricemic nephropathy, familial juvenile type 41 test
  • Hypoalphalipoproteinemia, primary, 14 tests
  • Hypochondroplasia11 tests
  • Hypoglycemia1 test
  • Hypogonadism with anosmia3 tests
  • Hypogonadotropic hypogonadism 1 with or without anosmia3 tests
  • Hypogonadotropic hypogonadism 10 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 11 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 12 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 13 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 14 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 15 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 16 with or without anosmia3 tests
  • Hypogonadotropic hypogonadism 17 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 18 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 19 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 2 with or without anosmia13 tests
  • Hypogonadotropic hypogonadism 20 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 21 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 22 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 24 without anosmia2 tests
  • Hypogonadotropic hypogonadism 3 with or without anosmia3 tests
  • Hypogonadotropic hypogonadism 4 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 5 with or without anosmia10 tests
  • Hypogonadotropic hypogonadism 6 with or without anosmia6 tests
  • Hypogonadotropic hypogonadism 7 with or without anosmia12 tests
  • Hypogonadotropic hypogonadism 8 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 9 with or without anosmia2 tests
  • Hypohidrotic X-linked ectodermal dysplasia2 tests
  • Hypoinsulinemic hypoglycemia and body hemihypertrophy3 tests
  • Hypokalemic periodic paralysis, type 18 tests
  • Hypokalemic periodic paralysis, type 27 tests
  • Hypomagnesemia, seizures, and intellectual disability 11 test
  • Hypomagnesemia, seizures, and intellectual disability 22 tests
  • Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism1 test
  • Hypomyelinating leukodystrophy 102 tests
  • Hypomyelinating leukodystrophy 115 tests
  • Hypomyelinating leukodystrophy 122 tests
  • Hypomyelinating leukodystrophy 132 tests
  • Hypomyelinating leukodystrophy 210 tests
  • Hypomyelinating leukodystrophy 35 tests
  • Hypomyelinating leukodystrophy 47 tests
  • Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism4 tests
  • Hypomyelination and Congenital Cataract7 tests
  • Hypoparathyroidism, deafness, renal disease syndrome6 tests
  • Hypoparathyroidism-retardation-dysmorphism syndrome6 tests
  • Hypophosphatemic nephrolithiasis/osteoporosis 12 tests
  • Hypophosphatemic nephrolithiasis/osteoporosis 21 test
  • Hypophosphatemic rickets, autosomal recessive, 12 tests
  • Hypophosphatemic rickets, autosomal recessive, 23 tests
  • Hypophosphatemic rickets, X-linked recessive4 tests
  • Hypopigmentation-punctate palmoplantar keratoderma syndrome3 tests
  • Hypoplastic enamel-onycholysis-hypohidrosis syndrome3 tests
  • Hypoplastic left heart syndrome 15 tests
  • Hypoplastic left heart syndrome 25 tests
  • Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome3 tests
  • Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration5 tests
  • Hypoproteinemia, hypercatabolic2 tests
  • Hypospadias 1, X-linked8 tests
  • Hypospadias 2, X-linked4 tests
  • Hypothalamic hypothyroidism1 test
  • Hypothryoidism, congenital, nongoitrous 41 test
  • Hypothyroidism due to TSH receptor mutations1 test
  • Hypothyroidism, congenital, nongoitrous, 22 tests
  • Hypothyroidism, congenital, nongoitrous, 55 tests
  • Hypotonia with lactic acidemia and hyperammonemia4 tests
  • Hypotonia, ataxia, and delayed development syndrome1 test
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 13 tests
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 22 tests
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 32 tests
  • Hypotrichosis 12 tests
  • Hypotrichosis 111 test
  • Hypotrichosis 132 tests
  • Hypotrichosis 22 tests
  • Hypotrichosis 32 tests
  • Hypotrichosis 42 tests
  • Hypotrichosis 62 tests
  • Hypotrichosis 72 tests
  • Hypotrichosis 82 tests
  • Hypotrichosis-lymphedema-telangiectasia syndrome1 test
  • Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome1 test
  • Hypouricemia, renal, 23 tests
  • Ichthyosis bullosa of Siemens2 tests
  • Ichthyosis hystrix of Curth-Macklin4 tests
  • Ichthyosis prematurity syndrome2 tests
  • Ichthyosis vulgaris3 tests
  • Ichthyosis, congenital, autosomal recessive 121 test
  • Ichthyosis, congenital, autosomal recessive 132 tests
  • Ichthyosis, congenital, autosomal recessive 141 test
  • Ichthyosis, hystrix-like, with hearing loss6 tests
  • Idiopathic basal ganglia calcification 16 tests
  • Idiopathic CD4 lymphocytopenia3 tests
  • Idiopathic hypereosinophilic syndrome2 tests
  • Idiopathic Pulmonary Fibrosis8 tests
  • IFAP syndrome with or without BRESHECK syndrome5 tests
  • IgE responsiveness, atopic1 test
  • IL21-related infantile inflammatory bowel disease4 tests
  • Imagawa-Matsumoto syndrome1 test
  • IMAGe syndrome7 tests
  • Imerslund-Grasbeck syndrome type 14 tests
  • Iminoglycinuria2 tests
  • Immunodeficiency 1044 tests
  • Immunodeficiency 144 tests
  • Immunodeficiency 181 test
  • Immunodeficiency 191 test
  • Immunodeficiency 233 tests
  • Immunodeficiency 251 test
  • Immunodeficiency 27A2 tests
  • Immunodeficiency 283 tests
  • Immunodeficiency 31B3 tests
  • Immunodeficiency 32B1 test
  • Immunodeficiency 334 tests
  • Immunodeficiency 352 tests
  • Immunodeficiency 363 tests
  • Immunodeficiency 371 test
  • Immunodeficiency 391 test
  • Immunodeficiency 451 test
  • Immunodeficiency 472 tests
  • Immunodeficiency 491 test
  • Immunodeficiency 513 tests
  • Immunodeficiency 531 test
  • Immunodeficiency 601 test
  • Immunodeficiency 641 test
  • Immunodeficiency 662 tests
  • Immunodeficiency 674 tests
  • Immunodeficiency 83, susceptibility to viral infections1 test
  • Immunodeficiency due to CD25 deficiency3 tests
  • Immunodeficiency due to MASP-2 deficiency1 test
  • Immunodeficiency without anhidrotic ectodermal dysplasia1 test
  • Immunodeficiency, common variable, 14 tests
  • Immunodeficiency, common variable, 104 tests
  • Immunodeficiency, common variable, 123 tests
  • Immunodeficiency, common variable, 142 tests
  • Immunodeficiency, common variable, 29 tests
  • Immunodeficiency, common variable, 32 tests
  • Immunodeficiency, common variable, 43 tests
  • Immunodeficiency, common variable, 52 tests
  • Immunodeficiency, common variable, 62 tests
  • Immunodeficiency, common variable, 73 tests
  • Immunodeficiency, developmental delay, and hypohomocysteinemia1 test
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 13 tests
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 22 tests
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 31 test
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 41 test
  • Immunoglobulin A deficiency 24 tests
  • Immunoglobulin-mediated membranoproliferative glomerulonephritis3 tests
  • Immunoskeletal dysplasia with neurodevelopmental abnormalities1 test
  • Inborn mitochondrial myopathy2 tests
  • Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 22 tests
  • Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 34 tests
  • Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 18 tests
  • Incontinentia pigmenti syndrome4 tests
  • Infantile cerebellar-retinal degeneration6 tests
  • Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly1 test
  • Infantile convulsions and choreoathetosis7 tests
  • Infantile cortical hyperostosis4 tests
  • Infantile GM1 gangliosidosis7 tests
  • Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency1 test
  • Infantile hypophosphatasia6 tests
  • Infantile liver failure syndrome 21 test
  • Infantile nephronophthisis5 tests
  • Infantile neuroaxonal dystrophy5 tests
  • Infantile onset spinocerebellar ataxia8 tests
  • Infantile-onset ascending hereditary spastic paralysis4 tests
  • Infantile-onset periodic fever-panniculitis-dermatosis syndrome2 tests
  • Infantile-onset X-linked spinal muscular atrophy6 tests
  • Infertility1 test
  • Infertility associated with multi-tailed spermatozoa and excessive DNA4 tests
  • Inflammatory bowel disease 13 tests
  • Inflammatory bowel disease 101 test
  • Inflammatory bowel disease 131 test
  • Inflammatory bowel disease 171 test
  • Inflammatory bowel disease 191 test
  • Inflammatory bowel disease 254 tests
  • Inflammatory bowel disease 283 tests
  • Inflammatory skin and bowel disease, neonatal, 13 tests
  • Inflammatory skin and bowel disease, neonatal, 21 test
  • Inherited Creutzfeldt-Jakob disease9 tests
  • Inosine triphosphatase deficiency2 tests
  • Insulin-dependent diabetes mellitus secretory diarrhea syndrome5 tests
  • Insulin-resistant diabetes mellitus AND acanthosis nigricans5 tests
  • Intellectual developmental disorder and retinitis pigmentosa; IDDRP1 test
  • Intellectual developmental disorder with cardiac defects and dysmorphic facies1 test
  • Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies2 tests
  • Intellectual developmental disorder with neuropsychiatric features1 test
  • Intellectual developmental disorder, autosomal recessive 691 test
  • INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WILSON-TURNER TYPE2 tests
  • Intellectual disability5 tests
  • Intellectual disability, autosomal dominant 13 tests
  • Intellectual disability, autosomal dominant 136 tests
  • Intellectual disability, autosomal dominant 141 test
  • Intellectual disability, autosomal dominant 154 tests
  • Intellectual disability, autosomal dominant 164 tests
  • Intellectual disability, autosomal dominant 204 tests
  • Intellectual disability, autosomal dominant 242 tests
  • Intellectual disability, autosomal dominant 293 tests
  • Intellectual disability, autosomal dominant 301 test
  • Intellectual disability, autosomal dominant 331 test
  • Intellectual disability, autosomal dominant 391 test
  • Intellectual disability, autosomal dominant 411 test
  • Intellectual disability, autosomal dominant 421 test
  • Intellectual disability, autosomal dominant 53 tests
  • Intellectual disability, autosomal dominant 63 tests
  • Intellectual disability, autosomal dominant 83 tests
  • Intellectual disability, autosomal dominant 95 tests
  • Intellectual disability, autosomal recessive 121 test
  • Intellectual disability, autosomal recessive 133 tests
  • Intellectual disability, autosomal recessive 181 test
  • Intellectual disability, autosomal recessive 271 test
  • Intellectual disability, autosomal recessive 33 tests
  • Intellectual disability, autosomal recessive 342 tests
  • Intellectual disability, autosomal recessive 421 test
  • Intellectual disability, autosomal recessive 441 test
  • Intellectual disability, autosomal recessive 451 test
  • Intellectual disability, autosomal recessive 51 test
  • Intellectual disability, autosomal recessive 532 tests
  • Intellectual disability, autosomal recessive 561 test
  • Intellectual disability, autosomal recessive 651 test
  • Intellectual disability, autosomal recessive 71 test
  • Intellectual disability, X-linked 12 tests
  • Intellectual disability, X-linked 1021 test
  • Intellectual disability, X-linked 1041 test
  • Intellectual disability, X-linked 192 tests
  • Intellectual disability, X-linked 211 test
  • Intellectual disability, X-linked 301 test
  • Intellectual disability, X-linked 411 test
  • Intellectual disability, X-linked 451 test
  • Intellectual disability, X-linked 461 test
  • Intellectual disability, X-linked 581 test
  • Intellectual disability, X-linked 631 test
  • Intellectual disability, X-linked 722 tests
  • Intellectual disability, X-linked 881 test
  • Intellectual disability, X-linked 891 test
  • Intellectual disability, X-linked 91 test
  • Intellectual disability, X-linked 902 tests
  • Intellectual disability, X-linked 911 test
  • Intellectual disability, X-linked 921 test
  • Intellectual disability, X-linked 932 tests
  • Intellectual disability, X-linked 961 test
  • Intellectual disability, X-linked 971 test
  • Intellectual disability, X-linked 991 test
  • Intellectual disability, X-linked 99, syndromic, female-restricted1 test
  • Intellectual disability, X-linked syndromic, Turner type2 tests
  • Intellectual disability, X-linked, syndromic 333 tests
  • Intellectual disability, X-linked, syndromic, Bain type1 test
  • Intellectual disability, X-linked, with or without seizures, arx-related7 tests
  • Intellectual disability, X-linked, with panhypopituitarism7 tests
  • Intellectual disability-epilepsy-extrapyramidal syndrome2 tests
  • Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency2 tests
  • Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome1 test
  • Intellectual disability-hypotonia-spasticity-sleep disorder syndrome2 tests
  • Intellectual disability-hypotonic facies syndrome, X-linked, 15 tests
  • Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome1 test
  • Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome1 test
  • Intellectual disability-severe speech delay-mild dysmorphism syndrome1 test
  • Intellectual disability-strabismus syndrome2 tests
  • Interstitial lung disease due to ABCA3 deficiency3 tests
  • Intervertebral disc disorder9 tests
  • Intestinal hypomagnesemia 14 tests
  • Intestinal pseudo-obstruction1 test
  • Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked9 tests
  • Intracerebral hemorrhage15 tests
  • Invasive pneumococcal disease, recurrent isolated4 tests
  • Iodotyrosine deiodination defect1 test
  • Iodotyrosyl coupling defect2 tests
  • Irido-corneo-trabecular dysgenesis8 tests
  • Iron-refractory iron deficiency anemia1 test
  • Ischemic stroke8 tests
  • Islet cell adenomatosis1 test
  • Isolated congenital digital clubbing1 test
  • Isolated congenital growth hormone deficiency1 test
  • Isolated cryptophthalmia4 tests
  • Isolated focal cortical dysplasia type II13 tests
  • Isolated focal non-epidermolytic palmoplantar keratoderma2 tests
  • Isolated growth hormone deficiency type IB4 tests
  • Isolated growth hormone deficiency, type 41 test
  • Isolated lutropin deficiency2 tests
  • Isolated microphthalmia 25 tests
  • Isolated microphthalmia 32 tests
  • Isolated microphthalmia 45 tests
  • Isolated microphthalmia 55 tests
  • Isolated microphthalmia 61 test
  • Isolated microphthalmia 74 tests
  • Isolated microphthalmia 82 tests
  • Isolated neonatal sclerosing cholangitis2 tests
  • Isolated sedoheptulokinase deficiency1 test
  • Isovaleryl-CoA dehydrogenase deficiency2 tests
  • Jackson-Weiss syndrome20 tests
  • Jalili syndrome3 tests
  • Jawad syndrome4 tests
  • Jervell and Lange-Nielsen syndrome 114 tests
  • Jervell and Lange-Nielsen syndrome 29 tests
  • Joubert syndrome1 test
  • Joubert syndrome 17 tests
  • Joubert syndrome 109 tests
  • Joubert syndrome 133 tests
  • Joubert syndrome 143 tests
  • Joubert syndrome 153 tests
  • Joubert syndrome 162 tests
  • Joubert syndrome 176 tests
  • Joubert syndrome 210 tests
  • Joubert syndrome 203 tests
  • Joubert syndrome 211 test
  • Joubert syndrome 241 test
  • Joubert syndrome 272 tests
  • Joubert syndrome 38 tests
  • Joubert syndrome 510 tests
  • Joubert syndrome 69 tests
  • Joubert syndrome 79 tests
  • Joubert syndrome 86 tests
  • Joubert syndrome 910 tests
  • Joubert syndrome with renal defect12 tests
  • Junctional epidermolysis bullosa gravis of Herlitz5 tests
  • Junctional epidermolysis bullosa with pyloric atresia7 tests
  • Junctional epidermolysis bullosa, non-Herlitz type6 tests
  • Juvenile myelomonocytic leukemia21 tests
  • Juvenile myoclonic epilepsy1 test
  • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke3 tests
  • Juvenile nephropathic cystinosis4 tests
  • Juvenile onset Parkinson disease 19A1 test
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome11 tests
  • Juvenile primary lateral sclerosis4 tests
  • Juvenile retinoschisis5 tests
  • Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome3 tests
  • Kabuki syndrome 19 tests
  • Kabuki syndrome 25 tests
  • Kahrizi syndrome5 tests
  • Kartagener syndrome3 tests
  • Karyomegalic interstitial nephritis1 test
  • KBG syndrome4 tests
  • Kearns-Sayre syndrome1 test
  • Kell blood group system1 test
  • Kennedy disease8 tests
  • Keppen-Lubinsky syndrome1 test
  • Keratoconus 11 test
  • Keratoderma with scleroatrophy of the extremities1 test
  • Keratosis follicularis5 tests
  • Keratosis follicularis spinulosa decalvans, X-linked5 tests
  • Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome3 tests
  • Keratosis palmoplantaris striata 25 tests
  • Keratosis palmoplantaris striata 34 tests
  • Keratosis pilaris1 test
  • Ketoacidosis due to monocarboxylate transporter-1 deficiency3 tests
  • Keutel syndrome2 tests
  • Khan-Khan-Katsanis syndrome1 test
  • Kindler syndrome3 tests
  • Kleefstra syndrome1 test
  • Kleefstra syndrome 14 tests
  • Klinefelter syndrome2 tests
  • Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome2 tests
  • Klippel-Feil syndrome 1, autosomal dominant6 tests
  • Klippel-Feil syndrome 2, autosomal recessive4 tests
  • Klippel-Feil syndrome 3, autosomal dominant4 tests
  • Kniest dysplasia18 tests
  • Knobloch syndrome4 tests
  • Knuckle pads, deafness AND leukonychia syndrome6 tests
  • Koolen-de Vries syndrome4 tests
  • Kostmann syndrome5 tests
  • Krabbe disease, atypical, due to saposin A deficiency5 tests
  • Kufor-Rakeb syndrome7 tests
  • Kugelberg-Welander disease4 tests
  • Kuru, susceptibility to9 tests
  • L-2-hydroxyglutaric aciduria4 tests
  • L-ferritin deficiency6 tests
  • Lafora disease5 tests
  • Lamb-Shaffer syndrome1 test
  • LAMB2-related infantile-onset nephrotic syndrome5 tests
  • Landau-Kleffner syndrome3 tests
  • Langer mesomelic dysplasia syndrome8 tests
  • Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia1 test
  • Large congenital melanocytic nevus11 tests
  • Laron-type isolated somatotropin defect3 tests
  • Larsen syndrome5 tests
  • Larsen-like syndrome, B3GAT3 type3 tests
  • Laryngo-onycho-cutaneous syndrome3 tests
  • Late-onset retinal degeneration6 tests
  • Lateral meningocele syndrome6 tests
  • Lathosterolosis3 tests
  • Lattice corneal dystrophy Type I2 tests
  • Lattice corneal dystrophy Type III1 test
  • Laurence-Moon syndrome8 tests
  • Laurin-Sandrow syndrome1 test
  • LCAT deficiency4 tests
  • Learning difficulties1 test
  • Leber congenital amaurosis 16 tests
  • Leber congenital amaurosis 1010 tests
  • Leber congenital amaurosis 115 tests
  • Leber congenital amaurosis 124 tests
  • Leber congenital amaurosis 137 tests
  • Leber congenital amaurosis 144 tests
  • Leber congenital amaurosis 155 tests
  • Leber congenital amaurosis 164 tests
  • Leber congenital amaurosis 176 tests
  • Leber congenital amaurosis 25 tests
  • Leber congenital amaurosis 34 tests
  • Leber congenital amaurosis 46 tests
  • Leber congenital amaurosis 55 tests
  • Leber congenital amaurosis 65 tests
  • Leber congenital amaurosis 75 tests
  • Leber congenital amaurosis 86 tests
  • Leber congenital amaurosis 94 tests
  • Leber hereditary optic neuropathy, autosomal recessive1 test
  • Leber optic atrophy10 tests
  • Left ventricular noncompaction 11 test
  • Left ventricular noncompaction 108 tests
  • Left ventricular noncompaction 71 test
  • Left ventricular noncompaction 82 tests
  • Left-right axis malformations1 test
  • Legg-Calve-Perthes disease18 tests
  • Legius syndrome2 tests
  • Leigh syndrome36 tests
  • Lenz-Majewski hyperostosis syndrome1 test
  • LEOPARD syndrome 112 tests
  • LEOPARD syndrome 28 tests
  • LEOPARD syndrome 38 tests
  • Leprechaunism syndrome5 tests
  • Leri-Weill dyschondrosteosis9 tests
  • Lesch-Nyhan syndrome3 tests
  • Lethal acantholytic epidermolysis bullosa5 tests
  • Lethal arthrogryposis-anterior horn cell disease syndrome4 tests
  • Lethal congenital contracture syndrome 14 tests
  • Lethal congenital contracture syndrome 111 test
  • Lethal congenital contracture syndrome 22 tests
  • Lethal congenital contracture syndrome 31 test
  • Lethal congenital contracture syndrome 44 tests
  • Lethal congenital contracture syndrome 74 tests
  • Lethal congenital contracture syndrome 82 tests
  • Lethal congenital contracture syndrome 93 tests
  • Lethal congenital glycogen storage disease of heart9 tests
  • Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome1 test
  • Lethal Kniest-like syndrome3 tests
  • Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome1 test
  • Lethal multiple pterygium syndrome15 tests
  • Lethal osteosclerotic bone dysplasia4 tests
  • Lethal polymalformative syndrome, Boissel type1 test
  • Lethal tight skin contracture syndrome21 tests
  • Leucine-induced hypoglycemia12 tests
  • Leukemia, acute lymphoblastic, susceptibility to, 31 test
  • Leukemia, post-chemotherapy, susceptibility to1 test
  • Leukocyte adhesion deficiency 14 tests
  • Leukocyte adhesion deficiency 33 tests
  • Leukocyte adhesion deficiency type II3 tests
  • Leukodystrophy and acquired microcephaly with or without dystonia;2 tests
  • Leukodystrophy, hypomyelinating, 172 tests
  • Leukodystrophy, hypomyelinating, 182 tests
  • Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome7 tests
  • Leukoencephalopathy with calcifications and cysts1 test
  • Leukoencephalopathy with mild cerebellar ataxia and white matter edema5 tests
  • Leukoencephalopathy, progressive, with ovarian failure3 tests
  • Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome8 tests
  • Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome4 tests
  • Levy-Hollister syndrome21 tests
  • Lewy body dementia19 tests
  • Leydig cell agenesis6 tests
  • Li-Fraumeni syndrome 110 tests
  • Li-Fraumeni syndrome 29 tests
  • Lichtenstein-Knorr syndrome1 test
  • Liddle syndrome 13 tests
  • Limb-girdle muscular dystrophy due to POMK deficiency2 tests
  • Limb-mammary syndrome8 tests
  • Linear nevus sebaceous syndrome14 tests
  • Linear skin defects with multiple congenital anomalies 14 tests
  • Linear skin defects with multiple congenital anomalies 21 test
  • Linear skin defects with multiple congenital anomalies 31 test
  • Lipase deficiency, combined1 test
  • Lipid proteinosis3 tests
  • Lipoic acid synthetase deficiency5 tests
  • Lipoprotein glomerulopathy3 tests
  • Lipoyl transferase 1 deficiency2 tests
  • Lissencephaly 41 test
  • Lissencephaly 6 with microcephaly1 test
  • Lissencephaly 7 with cerebellar hypoplasia1 test
  • Lissencephaly due to LIS1 mutation3 tests
  • Lissencephaly due to TUBA1A mutation3 tests
  • Lissencephaly type 1 due to doublecortin gene mutation2 tests
  • Loeys-Dietz syndrome 18 tests
  • Loeys-Dietz syndrome 210 tests
  • Loeys-Dietz syndrome 42 tests
  • Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency10 tests
  • Long chain acyl-CoA dehydrogenase deficiency1 test
  • Long QT syndrome3 tests
  • Long QT syndrome 114 tests
  • Long QT syndrome 105 tests
  • Long QT syndrome 115 tests
  • Long QT syndrome 124 tests
  • Long QT syndrome 137 tests
  • Long QT syndrome 146 tests
  • Long QT syndrome 152 tests
  • Long QT syndrome 29 tests
  • Long QT syndrome 311 tests
  • Long QT syndrome 59 tests
  • Long QT syndrome 66 tests
  • Long QT syndrome 99 tests
  • Loricrin keratoderma1 test
  • Low phospholipid associated cholelithiasis2 tests
  • Lowe syndrome6 tests
  • Lower motor neuron syndrome with late-adult onset8 tests
  • Lucey-Driscoll syndrome7 tests
  • Lung adenocarcinoma1 test
  • Lung cancer1 test
  • Lung carcinoma34 tests
  • Lung disease, immunodeficiency, and chromosome breakage syndrome;1 test
  • Luscan-Lumish syndrome1 test
  • Lymphangiomyomatosis11 tests
  • Lymphatic malformation1 test
  • Lymphatic malformation 310 tests
  • Lymphatic malformation 42 tests
  • Lymphatic malformation 63 tests
  • Lymphatic malformation 73 tests
  • Lymphedema-posterior choanal atresia syndrome1 test
  • Lymphoid leukemia6 tests
  • Lymphoma, non-Hodgkin, familial1 test
  • Lymphoproliferative syndrome 14 tests
  • Lymphoproliferative syndrome 23 tests
  • Lynch syndrome2 tests
  • Lynch syndrome 115 tests
  • Lysinuric protein intolerance1 test
  • Lysosomal acid lipase deficiency7 tests
  • Macrocephaly and epileptic encephalopathy1 test
  • Macrocephaly, dysmorphic facies, and psychomotor retardation3 tests
  • Macrocephaly-autism syndrome17 tests
  • Macrocephaly-developmental delay syndrome1 test
  • Macrocephaly/megalencephaly syndrome, autosomal recessive1 test
  • Macroglobulinemia, Waldenstrom, 12 tests
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss8 tests
  • Macrothrombocytopenia, isolated, 1, autosomal dominant2 tests
  • Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome2 tests
  • Macular corneal dystrophy1 test
  • Macular degeneration, age-related, 35 tests
  • Macular degeneration, early-onset4 tests
  • Macular degeneration, X-linked atrophic7 tests
  • Macular dystrophy with central cone involvement3 tests
  • Majeed syndrome2 tests
  • Malaria, susceptibility to15 tests
  • Male infertility1 test
  • Male pseudohermaphroditism2 tests
  • Maleylacetoacetate isomerase deficiency1 test
  • Malignant hyperthermia, susceptibility to, 18 tests
  • Malignant hyperthermia, susceptibility to, 54 tests
  • Malignant lymphoma, large B-cell, diffuse1 test
  • Malignant tumor of esophagus16 tests
  • Malignant tumor of prostate41 tests
  • Malignant tumor of testis24 tests
  • Malignant tumor of urinary bladder28 tests
  • Mandibular hypoplasia-deafness-progeroid syndrome3 tests
  • Mandibuloacral dysplasia with type A lipodystrophy20 tests
  • Mandibuloacral dysplasia with type B lipodystrophy4 tests
  • Mandibulofacial dysostosis with alopecia1 test
  • Mandibulofacial dysostosis-microcephaly syndrome3 tests
  • Mannose-binding lectin deficiency1 test
  • Maple syrup urine disease11 tests
  • Marden-Walker syndrome5 tests
  • Marfan syndrome4 tests
  • Marinesco-Sjögren syndrome7 tests
  • Marshall syndrome6 tests
  • Marshall-Smith syndrome5 tests
  • Martsolf syndrome5 tests
  • MASA syndrome6 tests
  • MASS syndrome4 tests
  • Mast syndrome2 tests
  • Mastocytosis6 tests
  • Matthew-Wood syndrome5 tests
  • Maturity onset diabetes mellitus in young1 test
  • Maturity-onset diabetes of the young type 16 tests
  • Maturity-onset diabetes of the young type 106 tests
  • Maturity-onset diabetes of the young type 113 tests
  • Maturity-onset diabetes of the young type 139 tests
  • Maturity-onset diabetes of the young type 142 tests
  • Maturity-onset diabetes of the young type 27 tests
  • Maturity-onset diabetes of the young type 36 tests
  • Maturity-onset diabetes of the young type 47 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 84 tests
  • Maturity-onset diabetes of the young type 94 tests
  • McCune-Albright syndrome6 tests
  • McKusick-Kaufman syndrome6 tests
  • McLeod neuroacanthocytosis syndrome5 tests
  • Meacham syndrome13 tests
  • Meckel syndrome 131 test
  • Meckel syndrome, type 110 tests
  • Meckel syndrome, type 101 test
  • Meckel syndrome, type 112 tests
  • Meckel syndrome, type 210 tests
  • Meckel syndrome, type 39 tests
  • Meckel syndrome, type 410 tests
  • Meckel syndrome, type 59 tests
  • Meckel syndrome, type 610 tests
  • Meckel syndrome, type 82 tests
  • Meckel syndrome, type 93 tests
  • Meconium ileus1 test
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency7 tests
  • MEDNIK syndrome3 tests
  • Medulloblastoma19 tests
  • Megaconial type congenital muscular dystrophy6 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 17 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 2A4 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability4 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 15 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 24 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 33 tests
  • Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness5 tests
  • Megalocornea1 test
  • MEGF10-Related Myopathy1 test
  • MEGF8-related Carpenter syndrome5 tests
  • MEHMO syndrome1 test
  • Meier-Gorlin syndrome 13 tests
  • Meier-Gorlin syndrome 22 tests
  • Meier-Gorlin syndrome 31 test
  • Meier-Gorlin syndrome 42 tests
  • Meier-Gorlin syndrome 51 test
  • Meier-Gorlin syndrome 61 test
  • Meier-Gorlin syndrome 72 tests
  • Meier-Gorlin syndrome 81 test
  • Melanoma1 test
  • Melanoma and neural system tumor syndrome6 tests
  • Melanoma, cutaneous malignant, susceptibility to, 102 tests
  • Melanoma, cutaneous malignant, susceptibility to, 26 tests
  • Melanoma, cutaneous malignant, susceptibility to, 33 tests
  • Melanoma, cutaneous malignant, susceptibility to, 51 test
  • Melanoma, cutaneous malignant, susceptibility to, 83 tests
  • Melanoma, cutaneous malignant, susceptibility to, 95 tests
  • Melanoma-pancreatic cancer syndrome6 tests
  • Melnick-Needles syndrome9 tests
  • MEND syndrome6 tests
  • Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency2 tests
  • 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
  • Menkes kinky-hair syndrome6 tests
  • Meretoja syndrome2 tests
  • Merosin deficient congenital muscular dystrophy6 tests
  • MERRF syndrome2 tests
  • MERRF/MELAS overlap syndrome2 tests
  • Mesoaxial synostotic syndactyly with phalangeal reduction3 tests
  • Mesothelioma, malignant14 tests
  • Metabolic myopathy due to lactate transporter defect3 tests
  • Metabolic syndrome X6 tests
  • Metachondromatosis12 tests
  • Metachromatic leukodystrophy10 tests
  • Metaphyseal anadysplasia 21 test
  • Metaphyseal chondrodysplasia, Jansen type1 test
  • Metaphyseal chondrodysplasia, McKusick type4 tests
  • Metaphyseal chondrodysplasia, Schmid type1 test
  • Metaphyseal chondrodysplasia, Spahr type2 tests
  • Metaphyseal dysplasia without hypotrichosis4 tests
  • Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome3 tests
  • Metatropic dysplasia9 tests
  • Methemoglobinemia type 41 test
  • Methylcobalamin deficiency type cblE1 test
  • Methylcobalamin deficiency type cblG1 test
  • Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency1 test
  • Methylmalonic acidemia due to transcobalamin receptor defect1 test
  • Methylmalonic acidemia with homocystinuria, type cblJ3 tests
  • Methylmalonic aciduria2 tests
  • Methylmalonic aciduria and homocystinuria type cblD2 tests
  • Methylmalonic aciduria and homocystinuria type cblF2 tests
  • Methylmalonic aciduria, cblA type1 test
  • Methylmalonic aciduria, cblB type2 tests
  • Mevalonic aciduria6 tests
  • MGAT2-congenital disorder of glycosylation3 tests
  • MHC class I deficiency2 tests
  • MHC class II deficiency5 tests
  • Microcephalic osteodysplastic primordial dwarfism type II4 tests
  • Microcephalic primordial dwarfism due to RTTN deficiency1 test
  • Microcephalic primordial dwarfism due to ZNF335 deficiency1 test
  • Microcephalic primordial dwarfism, Alazami type1 test
  • Microcephaly 1, primary, autosomal recessive1 test
  • Microcephaly 16, primary, autosomal recessive1 test
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations3 tests
  • Microcephaly 20, primary, autosomal recessive1 test
  • Microcephaly 3, primary, autosomal recessive1 test
  • Microcephaly 4, primary, autosomal recessive2 tests
  • Microcephaly 5, primary, autosomal recessive2 tests
  • Microcephaly 6, primary, autosomal recessive3 tests
  • Microcephaly 7, primary, autosomal recessive2 tests
  • Microcephaly 8, primary, autosomal recessive1 test
  • Microcephaly 9, primary, autosomal recessive3 tests
  • Microcephaly and chorioretinopathy 12 tests
  • Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability4 tests
  • Microcephaly, epilepsy, and diabetes syndrome3 tests
  • Microcephaly, normal intelligence and immunodeficiency9 tests
  • Microcephaly, seizures, and developmental delay8 tests
  • Microcephaly, short stature, and impaired glucose metabolism 11 test
  • Microcephaly-capillary malformation syndrome2 tests
  • Microcephaly-congenital cataract-psoriasiform dermatitis syndrome2 tests
  • Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome2 tests
  • Microcornea-myopic chorioretinal atrophy3 tests
  • Microcytic anemia2 tests
  • Microcytic anemia with liver iron overload1 test
  • Microphthalmia1 test
  • Microphthalmia with brain and digit anomalies7 tests
  • Microphthalmia with limb anomalies4 tests
  • Microphthalmia, isolated, with coloboma 102 tests
  • Microphthalmia, isolated, with coloboma 35 tests
  • Microphthalmia, isolated, with coloboma 58 tests
  • Microphthalmia, isolated, with coloboma 67 tests
  • Microphthalmia, isolated, with coloboma 72 tests
  • Microphthalmia, isolated, with coloboma 91 test
  • Microphthalmia, syndromic 111 tests
  • Microphthalmia, syndromic 113 tests
  • Microphthalmia, syndromic 124 tests
  • Microspherophakia2 tests
  • Microvascular complications of diabetes, susceptibility to, 12 tests
  • Microvascular complications of diabetes, susceptibility to, 34 tests
  • Microvascular complications of diabetes, susceptibility to, 42 tests
  • Microvascular complications of diabetes, susceptibility to, 75 tests
  • Migraine3 tests
  • Migraine, familial hemiplegic, 110 tests
  • Migraine, familial hemiplegic, 26 tests
  • Migraine, familial hemiplegic, 36 tests
  • Migraine, with or without aura, susceptibility to, 131 test
  • Miller Dieker syndrome1 test
  • Miller syndrome3 tests
  • MIRAGE syndrome5 tests
  • Mirror movements 13 tests
  • Mirror movements 22 tests
  • Mitochondrial complex 1 deficiency, nuclear type 191 test
  • Mitochondrial complex 1 deficiency, nuclear type 42 tests
  • Mitochondrial complex I deficiency11 tests
  • Mitochondrial complex I deficiency, nuclear type 15 tests
  • Mitochondrial complex II deficiency, nuclear type 121 tests
  • Mitochondrial complex III deficiency nuclear type 16 tests
  • Mitochondrial complex III deficiency nuclear type 23 tests
  • Mitochondrial complex III deficiency nuclear type 32 tests
  • Mitochondrial complex III deficiency nuclear type 42 tests
  • Mitochondrial complex III deficiency nuclear type 52 tests
  • Mitochondrial complex III deficiency nuclear type 61 test
  • Mitochondrial complex III deficiency nuclear type 72 tests
  • Mitochondrial complex III deficiency nuclear type 81 test
  • Mitochondrial complex III deficiency nuclear type 91 test
  • Mitochondrial complex V (ATP synthase) deficiency nuclear type 28 tests
  • Mitochondrial complex V (ATP synthase) deficiency nuclear type 32 tests
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 14 tests
  • Mitochondrial disease3 tests
  • Mitochondrial DNA deletion syndrome with progressive myopathy4 tests
  • Mitochondrial DNA Deletion Syndromes1 test
  • Mitochondrial DNA depletion syndrome 121 tests
  • Mitochondrial DNA depletion syndrome 113 tests
  • Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant8 tests
  • Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive8 tests
  • Mitochondrial DNA depletion syndrome 136 tests
  • Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)9 tests
  • Mitochondrial DNA depletion syndrome 15 (hepatocerebral type);1 test
  • Mitochondrial DNA depletion syndrome 36 tests
  • Mitochondrial DNA depletion syndrome 4b17 tests
  • Mitochondrial DNA depletion syndrome 8a7 tests
  • Mitochondrial DNA depletion syndrome 92 tests
  • Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria8 tests
  • Mitochondrial DNA depletion syndrome, myopathic form4 tests
  • Mitochondrial encephalomyopathy1 test
  • Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency1 test
  • Mitochondrial myopathy, isolated1 test
  • Mitochondrial myopathy-lactic acidosis-deafness syndrome1 test
  • Mitochondrial non-syndromic sensorineural hearing loss3 tests
  • Mitochondrial pyruvate carrier deficiency1 test
  • Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency4 tests
  • Mitochondrial trifunctional protein deficiency11 tests
  • Mitral valve prolapse, myxomatous 21 test
  • Mixed phenotype acute leukemia5 tests
  • Miyoshi muscular dystrophy 19 tests
  • Miyoshi muscular dystrophy 36 tests
  • MOGS-congenital disorder of glycosylation5 tests
  • Monocytopenia with susceptibility to infections8 tests
  • MORM syndrome7 tests
  • Mosaic variegated aneuploidy syndrome 12 tests
  • Mosaic variegated aneuploidy syndrome 21 test
  • Mowat-Wilson syndrome7 tests
  • Moyamoya disease3 tests
  • Moyamoya disease 22 tests
  • Moyamoya disease 56 tests
  • Moyamoya disease with early-onset achalasia1 test
  • MPDU1-congenital disorder of glycosylation2 tests
  • MPI-congenital disorder of glycosylation5 tests
  • Mucolipidosis type II4 tests
  • Mucolipidosis type III gamma4 tests
  • Mucolipidosis type IV5 tests
  • Mucopolysaccharidosis type 63 tests
  • Mucopolysaccharidosis type 77 tests
  • Mucopolysaccharidosis, MPS-I-H/S6 tests
  • Mucopolysaccharidosis, MPS-I-S6 tests
  • Mucopolysaccharidosis, MPS-II5 tests
  • Mucopolysaccharidosis, MPS-III-A4 tests
  • Mucopolysaccharidosis, MPS-III-B4 tests
  • Mucopolysaccharidosis, MPS-III-C4 tests
  • Mucopolysaccharidosis, MPS-III-D3 tests
  • Mucopolysaccharidosis, MPS-IV-A4 tests
  • Mucopolysaccharidosis, MPS-IV-B7 tests
  • Mucosa-associated lymphoma3 tests
  • Muenke syndrome11 tests
  • Muir-Torré syndrome16 tests
  • Mulibrey nanism syndrome4 tests
  • Mullerian aplasia and hyperandrogenism4 tests
  • Multicentric carpo-tarsal osteolysis with or without nephropathy2 tests
  • Multicentric osteolysis, nodulosis, and arthropathy2 tests
  • Multiple acyl-CoA dehydrogenase deficiency13 tests
  • Multiple congenital anomalies7 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 14 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 26 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 33 tests
  • Multiple congenital exostosis5 tests
  • Multiple endocrine neoplasia type 42 tests
  • Multiple endocrine neoplasia, type 17 tests
  • Multiple endocrine neoplasia, type 2a8 tests
  • Multiple endocrine neoplasia, type 2b8 tests
  • Multiple epiphyseal dysplasia type 14 tests
  • Multiple epiphyseal dysplasia type 47 tests
  • Multiple epiphyseal dysplasia type 51 test
  • Multiple epiphyseal dysplasia, Al-Gazali type10 tests
  • Multiple epiphyseal dysplasia, Beighton type18 tests
  • Multiple fibrofolliculomas5 tests
  • Multiple gastrointestinal atresias4 tests
  • Multiple mitochondrial dysfunctions syndrome 12 tests
  • Multiple mitochondrial dysfunctions syndrome 24 tests
  • Multiple mitochondrial dysfunctions syndrome 35 tests
  • Multiple mitochondrial dysfunctions syndrome 44 tests
  • Multiple myeloma9 tests
  • Multiple sclerosis, susceptibility to, 54 tests
  • Multiple self-healing squamous epithelioma8 tests
  • Multiple sulfatase deficiency6 tests
  • Multiple synostoses syndrome 24 tests
  • Multiple synostoses syndrome 32 tests
  • Multiple synostoses syndrome 41 test
  • Multiple system atrophy7 tests
  • Mungan syndrome3 tests
  • Muscle AMP deaminase deficiency2 tests
  • Muscle eye brain disease5 tests
  • Muscular dystrophy-dystroglycanopathy1 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 101 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 115 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 122 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 48 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 74 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 83 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A116 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A133 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A145 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A27 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A57 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A63 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A96 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B17 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B145 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B27 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B36 tests
  • Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B48 tests
  • Muscular dystrophy-dystroglycanopathy type B57 tests
  • Muscular dystrophy-dystroglycanopathy type B63 tests
  • Mutilating keratoderma6 tests
  • Myasthenic syndrome, congenital, 1B, fast-channel7 tests
  • Myasthenic syndrome, congenital, 223 tests
  • Myasthenic syndrome, congenital, 24, presynaptic1 test
  • Myasthenic syndrome, slow-channel congenital7 tests
  • Mycobacterium tuberculosis, susceptibility to5 tests
  • Myelodysplastic syndrome16 tests
  • Myelofibrosis13 tests
  • Myeloid leukemia4 tests
  • Myeloproliferative disorder, chronic, with eosinophilia4 tests
  • MYH7-related late-onset scapuloperoneal muscular dystrophy7 tests
  • MYH7-related skeletal myopathy7 tests
  • Myhre syndrome11 tests
  • Myocardial infarction 111 tests
  • Myoclonic dystonia 116 tests
  • Myoclonic dystonia 261 test
  • Myoclonic-atonic epilepsy4 tests
  • Myoclonus, familial, 11 test
  • Myoclonus, intractable, neonatal5 tests
  • Myofibrillar myopathy 29 tests
  • Myofibrillar myopathy 35 tests
  • Myofibrillar myopathy 49 tests
  • Myofibrillar myopathy 57 tests
  • Myofibrillar myopathy 68 tests
  • Myofibrillar myopathy 71 test
  • Myofibrillar myopathy 81 test
  • Myofibromatosis, infantile, 13 tests
  • Myofibromatosis, infantile, 25 tests
  • Myoglobinuria, acute recurrent, autosomal recessive3 tests
  • Myopathy1 test
  • Myopathy due to calsequestrin and SERCA1 protein overload1 test
  • Myopathy with abnormal lipid metabolism2 tests
  • Myopathy, centronuclear, 24 tests
  • Myopathy, centronuclear, 31 test
  • Myopathy, centronuclear, 52 tests
  • Myopathy, distal, with rimmed vacuoles3 tests
  • Myopathy, lactic acidosis, and sideroblastic anemia 15 tests
  • Myopathy, lactic acidosis, and sideroblastic anemia 24 tests
  • Myopathy, myofibrillar, 9, with early respiratory failure11 tests
  • Myopathy, myosin storage, autosomal recessive7 tests
  • Myopathy, proximal, and ophthalmoplegia2 tests
  • Myopathy, reducing body, X-linked, childhood-onset8 tests
  • Myopathy, reducing body, X-linked, early-onset, severe8 tests
  • Myopathy, tubular aggregate, 15 tests
  • Myopathy, tubular aggregate, 23 tests
  • Myopia1 test
  • Myopia 67 tests
  • Myopia, high, with cataract and vitreoretinal degeneration3 tests
  • Myosclerosis6 tests
  • Myosin storage myopathy7 tests
  • Myostatin-related muscle hypertrophy2 tests
  • Myotonic dystrophy type 21 test
  • MYPN-related myopathy5 tests
  • Naegeli-Franceschetti-Jadassohn syndrome4 tests
  • Nager syndrome5 tests
  • Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome2 tests
  • Nail-patella syndrome8 tests
  • Nail-patella-like renal disease1 test
  • Namaqualand hip dysplasia18 tests
  • Nance-Horan syndrome5 tests
  • Nanophthalmos 25 tests
  • Narcolepsy 11 test
  • Narcolepsy 71 test
  • NARP syndrome2 tests
  • Nasopharyngeal carcinoma10 tests
  • Navajo neurohepatopathy9 tests
  • Naxos disease6 tests
  • NDE1-related microhydranencephaly1 test
  • NEK9-related lethal skeletal dysplasia2 tests
  • Nemaline myopathy 13 tests
  • Nemaline myopathy 102 tests
  • Nemaline myopathy 26 tests
  • Nemaline myopathy 46 tests
  • Nemaline myopathy 53 tests
  • Nemaline myopathy 63 tests
  • Nemaline myopathy 73 tests
  • Nemaline myopathy 83 tests
  • Nemaline myopathy 93 tests
  • Neonatal acute respiratory distress due to SP-B deficiency2 tests
  • Neonatal diabetes mellitus with congenital hypothyroidism2 tests
  • Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome2 tests
  • Neonatal ichthyosis-sclerosing cholangitis syndrome2 tests
  • Neonatal intrahepatic cholestasis due to citrin deficiency3 tests
  • Neonatal severe primary hyperparathyroidism5 tests
  • Neoplasm of ovary24 tests
  • Neoplasm of stomach34 tests
  • Nephroblastoma1 test
  • Nephrogenic syndrome of inappropriate antidiuresis2 tests
  • Nephrolithiasis susceptibility caused by SLC26A11 test
  • Nephronophthisis 112 tests
  • Nephronophthisis 119 tests
  • Nephronophthisis 129 tests
  • Nephronophthisis 147 tests
  • Nephronophthisis 155 tests
  • Nephronophthisis 163 tests
  • Nephronophthisis 181 test
  • Nephronophthisis 192 tests
  • Nephronophthisis 201 test
  • Nephronophthisis 39 tests
  • Nephronophthisis 411 tests
  • Nephronophthisis 73 tests
  • Nephronophthisis 94 tests
  • Nephronophthisis-like nephropathy 14 tests
  • Nephropathic cystinosis4 tests
  • Nephrotic syndrome1 test
  • Nephrotic syndrome 141 test
  • Nephrotic syndrome, type 102 tests
  • Nephrotic syndrome, type 112 tests
  • Nephrotic syndrome, type 121 test
  • Nephrotic syndrome, type 131 test
  • Nephrotic syndrome, type 25 tests
  • Nephrotic syndrome, type 34 tests
  • Nephrotic syndrome, type 413 tests
  • Nephrotic syndrome, type 62 tests
  • Nephrotic syndrome, type 82 tests
  • Nephrotic syndrome, type 91 test
  • Nestor-Guillermo progeria syndrome1 test
  • Netherton syndrome3 tests
  • Neu-Laxova syndrome 12 tests
  • Neu-Laxova syndrome 23 tests
  • Neural tube defect4 tests
  • Neural tube defects, folate-sensitive9 tests
  • Neuroblastoma3 tests
  • Neuroblastoma, susceptibility to, 11 test
  • Neuroblastoma, susceptibility to, 26 tests
  • Neuroblastoma, susceptibility to, 34 tests
  • Neurocirculatory asthenia1 test
  • Neurocutaneous melanocytosis8 tests
  • Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset3 tests
  • Neurodegeneration with brain iron accumulation 2B5 tests
  • Neurodegeneration with brain iron accumulation 42 tests
  • Neurodegeneration with brain iron accumulation 54 tests
  • Neurodegeneration with brain iron accumulation 65 tests
  • Neurodegeneration, childhood-onset, with cerebellar atrophy2 tests
  • Neurodevelopmental disorder and language delay with or without structural brain abnormalities1 test
  • Neurodevelopmental disorder with absent language and variable seizures1 test
  • Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination1 test
  • Neurodevelopmental disorder with hypotonia, neuropathy, and deafness1 test
  • Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features1 test
  • Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart1 test
  • Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities1 test
  • Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation1 test
  • Neuroferritinopathy6 tests
  • Neurofibromatosis, familial spinal7 tests
  • Neurofibromatosis, type 17 tests
  • Neurofibromatosis, type 26 tests
  • Neurofibromatosis-Noonan syndrome7 tests
  • Neurogenic scapuloperoneal syndrome, Kaeser type11 tests
  • Neurohypophyseal diabetes insipidus2 tests
  • Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset3 tests
  • Neuronal ceroid lipofuscinosis 15 tests
  • Neuronal ceroid lipofuscinosis 104 tests
  • Neuronal ceroid lipofuscinosis 115 tests
  • Neuronal ceroid lipofuscinosis 131 test
  • Neuronal ceroid lipofuscinosis 26 tests
  • Neuronal ceroid lipofuscinosis 37 tests
  • Neuronal ceroid lipofuscinosis 55 tests
  • Neuronal ceroid lipofuscinosis 73 tests
  • Neuronal ceroid lipofuscinosis 87 tests
  • Neuronal ceroid lipofuscinosis 8 northern epilepsy variant7 tests
  • Neuronopathy, distal hereditary motor, type 2A7 tests
  • Neuronopathy, distal hereditary motor, type 2B6 tests
  • Neuronopathy, distal hereditary motor, type 2C4 tests
  • Neuronopathy, distal hereditary motor, type 2D3 tests
  • Neuronopathy, distal hereditary motor, type 5A7 tests
  • Neuronopathy, distal hereditary motor, type 5B7 tests
  • Neuronopathy, distal hereditary motor, type 7A6 tests
  • Neuronopathy, distal hereditary motor, type 7B6 tests
  • Neuronopathy, distal hereditary motor, type 92 tests
  • Neuropathy, hereditary motor and sensory, type 6B7 tests
  • Neuropathy, hereditary sensory and autonomic, type 1C3 tests
  • Neuropathy, hereditary sensory and autonomic, type 2A8 tests
  • Neuropathy, hereditary sensory and autonomic, type 2B2 tests
  • Neuropathy, hereditary sensory, type 1D7 tests
  • Neuropathy, hereditary sensory, type 1F2 tests
  • Neuropathy, hereditary sensory, type 2C5 tests
  • Neutral 1 amino acid transport defect2 tests
  • Neutral lipid storage myopathy3 tests
  • Neutropenia, severe congenital, 1, autosomal dominant5 tests
  • Neutropenia, severe congenital, 2, autosomal dominant5 tests
  • Neutrophil immunodeficiency syndrome2 tests
  • Nevus comedonicus syndrome2 tests
  • Newfoundland cone-rod dystrophy5 tests
  • Nicolaides-Baraitser syndrome1 test
  • Niemann-Pick disease, type A9 tests
  • Niemann-Pick disease, type B9 tests
  • Niemann-Pick disease, type C110 tests
  • Niemann-Pick disease, type C27 tests
  • Nijmegen breakage syndrome-like disorder2 tests
  • Non-acquired combined pituitary hormone deficiency with spine abnormalities5 tests
  • Non-Hodgkin lymphoma16 tests
  • Non-ketotic hyperglycinemia7 tests
  • Nonarteritic anterior ischemic optic neuropathy, susceptibility to7 tests
  • Nonimmune chronic idiopathic neutropenia of adults5 tests
  • Nonpapillary renal cell carcinoma22 tests
  • Nonpersistence of intestinal lactase1 test
  • Nonprogressive cerebellar atxia with intellectual disability1 test
  • Nonsyndromic congenital nail disorder 84 tests
  • Noonan syndrome 115 tests
  • Noonan syndrome 103 tests
  • Noonan syndrome 37 tests
  • Noonan syndrome 46 tests
  • Noonan syndrome 58 tests
  • Noonan syndrome 68 tests
  • Noonan syndrome 78 tests
  • Noonan syndrome 82 tests
  • Noonan syndrome 92 tests
  • Noonan syndrome-like disorder with loose anagen hair1 test
  • Noonan syndrome-like disorder with loose anagen hair 15 tests
  • Normal pressure hydrocephalus3 tests
  • Norman-Roberts syndrome3 tests
  • Normophosphatemic familial tumoral calcinosis5 tests
  • NPHP3-related Meckel-like syndrome9 tests
  • Nystagmus 1, congenital, X-linked1 test
  • Nystagmus 6, congenital, X-linked6 tests
  • Obesity11 tests
  • OBESITY (BMIQ12), SUSCEPTIBILITY TO2 tests
  • Obesity due to congenital leptin deficiency3 tests
  • Obesity due to leptin receptor gene deficiency3 tests
  • Obesity due to pro-opiomelanocortin deficiency2 tests
  • Obesity due to prohormone convertase I deficiency2 tests
  • Obsessive-compulsive disorder1 test
  • Occipital pachygyria and polymicrogyria2 tests
  • Occult macular dystrophy6 tests
  • Ocular albinism, type I6 tests
  • Ocular albinism, type II4 tests
  • Ocular cystinosis4 tests
  • Oculoauricular syndrome4 tests
  • Oculocerebrofacial syndrome, Kaufman type2 tests
  • Oculocutaneous albinism type 1B5 tests
  • Oculocutaneous albinism type 33 tests
  • Oculocutaneous albinism type 44 tests
  • Oculocutaneous albinism type 73 tests
  • Oculodentodigital dysplasia5 tests
  • Oculodentodigital dysplasia, autosomal recessive5 tests
  • Oculofaciocardiodental syndrome9 tests
  • Oculomaxillofacial dysostosis3 tests
  • Oculootoradial syndrome7 tests
  • Oculopharyngeal muscular dystrophy5 tests
  • Oculotrichoanal syndrome5 tests
  • Odonto-onycho-dermal dysplasia3 tests
  • Ogden syndrome3 tests
  • Oguchi disease5 tests
  • Oguchi disease-24 tests
  • Oligodontia-cancer predisposition syndrome2 tests
  • Olmsted syndrome 12 tests
  • Olmsted syndrome, X-linked5 tests
  • Opsismodysplasia1 test
  • Optic atrophy 10 with or without ataxia, intellectual disability, and seizures3 tests
  • Optic atrophy 111 test
  • Optic atrophy 314 tests
  • Optic atrophy 54 tests
  • Optic atrophy 96 tests
  • Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy9 tests
  • Optic nerve hypoplasia, bilateral8 tests
  • Ornithine aminotransferase deficiency3 tests
  • Ornithine carbamoyltransferase deficiency3 tests
  • Orofacial cleft 101 test
  • Orofacial cleft 117 tests
  • Orofacial cleft 151 test
  • Orofacial cleft 53 tests
  • Orofacial cleft 6, susceptibility to7 tests
  • Orofacial-digital syndrome IV5 tests
  • Orofaciodigital syndrome I9 tests
  • Orofaciodigital syndrome type 143 tests
  • Orofaciodigital syndrome type 67 tests
  • Orofaciodigital syndrome V2 tests
  • Orofaciodigital syndrome XV1 test
  • Orotic aciduria2 tests
  • Osteoarthritis of distal interphalangeal joint1 test
  • Osteoarthritis of hip4 tests
  • Osteocraniostenosis5 tests
  • Osteodysplastic primordial dwarfism, type 14 tests
  • Osteofibrous dysplasia6 tests
  • Osteogenesis imperfecta1 test
  • Osteogenesis imperfecta type 102 tests
  • Osteogenesis imperfecta type 115 tests
  • Osteogenesis imperfecta type 122 tests
  • Osteogenesis imperfecta type 132 tests
  • Osteogenesis imperfecta type 142 tests
  • Osteogenesis imperfecta type 171 test
  • Osteogenesis imperfecta type 52 tests
  • Osteogenesis imperfecta type 61 test
  • Osteogenesis imperfecta type 73 tests
  • Osteogenesis imperfecta type 83 tests
  • Osteogenesis imperfecta type 92 tests
  • Osteogenesis imperfecta type I4 tests
  • Osteogenesis imperfecta type III7 tests
  • Osteogenesis imperfecta with normal sclerae, dominant form7 tests
  • Osteogenesis imperfecta, recessive perinatal lethal7 tests
  • Osteoglophonic dysplasia13 tests
  • Osteopathia striata with cranial sclerosis3 tests
  • Osteopetrosis with renal tubular acidosis3 tests
  • Osteoporosis with pseudoglioma9 tests
  • Oto-palato-digital syndrome, type I9 tests
  • Oto-palato-digital syndrome, type II9 tests
  • Otofaciocervical syndrome 15 tests
  • Otofaciocervical syndrome 22 tests
  • Otospondylomegaepiphyseal dysplasia, autosomal dominant6 tests
  • Otospondylomegaepiphyseal dysplasia, autosomal recessive6 tests
  • Ovarian dysgenesis1 test
  • Ovarian dysgenesis 13 tests
  • Ovarian dysgenesis 21 test
  • Ovarian dysgenesis 31 test
  • Ovarian hyperstimulation syndrome3 tests
  • Pachyonychia congenita 12 tests
  • Pachyonychia congenita 23 tests
  • Pachyonychia congenita 33 tests
  • Pachyonychia congenita 42 tests
  • Paget disease of bone 2, early-onset5 tests
  • Paget disease of bone 33 tests
  • Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome1 test
  • Pallister-Hall syndrome9 tests
  • Pallister-Killian syndrome1 test
  • Palmoplantar keratoderma i, striate, focal, or diffuse2 tests
  • Palmoplantar keratoderma, Bothnian type1 test
  • Palmoplantar keratoderma, Nagashima type1 test
  • Palmoplantar keratoderma, nonepidermolytic, focal 12 tests
  • Palmoplantar keratoderma, nonepidermolytic, focal or diffuse2 tests
  • Palmoplantar keratoderma, punctate type 1A2 tests
  • Palmoplantar keratoderma-deafness syndrome6 tests
  • Palmoplantar keratoderma-esophageal carcinoma syndrome3 tests
  • Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome3 tests
  • Pancreatic agenesis 17 tests
  • Pancreatic agenesis 22 tests
  • Pancreatic cancer, susceptibility to, 11 test
  • Pancreatic cancer, susceptibility to, 211 tests
  • Pancreatic cancer, susceptibility to, 38 tests
  • Pancreatic cancer, susceptibility to, 410 tests
  • Pancreatic hypoplasia-diabetes-congenital heart disease syndrome3 tests
  • Pancreatic insufficiency-anemia-hyperostosis syndrome1 test
  • Pancreatic triacylglycerol lipase deficiency1 test
  • Pancytopenia due to IKZF1 mutations4 tests
  • Pancytopenia-developmental delay syndrome2 tests
  • Panhypopituitarism, X-linked7 tests
  • Papillon-Lefèvre syndrome4 tests
  • Paragangliomas 112 tests
  • Paragangliomas 23 tests
  • Paragangliomas 35 tests
  • Paragangliomas 410 tests
  • Paragangliomas 511 tests
  • Paramyotonia congenita of Von Eulenburg7 tests
  • Parastremmatic dwarfism9 tests
  • Parathyroid carcinoma5 tests
  • Parietal foramina 13 tests
  • Parietal foramina 23 tests
  • Parietal foramina with cleidocranial dysplasia3 tests
  • Parkinson disease1 test
  • Parkinson disease 13, autosomal dominant, susceptibility to7 tests
  • Parkinson disease 171 test
  • Parkinson disease 5, autosomal dominant, susceptibility to2 tests
  • Parkinson disease, late-onset17 tests
  • Parkinsonian-pyramidal syndrome2 tests
  • Parkinsonism-dystonia, infantile, 13 tests
  • Paroxysmal extreme pain disorder5 tests
  • Paroxysmal nocturnal hemoglobinuria 16 tests
  • Paroxysmal nocturnal hemoglobinuria 23 tests
  • Paroxysmal nonkinesigenic dyskinesia 15 tests
  • Partial albinism9 tests
  • Partial androgen insensitivity syndrome8 tests
  • Partial hypoxanthine-guanine phosphoribosyltransferase deficiency3 tests
  • Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome2 tests
  • Partington syndrome7 tests
  • Patent ductus arteriosus 22 tests
  • Paternal uniparental disomy of chromosome 141 test
  • Paternal uniparental disomy of chromosome 71 test
  • Patterned macular dystrophy 112 tests
  • PCWH syndrome9 tests
  • Peeling skin syndrome 12 tests
  • Peeling skin syndrome 41 test
  • Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome1 test
  • PEHO syndrome1 test
  • Pelger-Huët anomaly4 tests
  • Pelizaeus-Merzbacher disease11 tests
  • Pelviscapular dysplasia1 test
  • Pendred syndrome6 tests
  • PERCHING syndrome4 tests
  • Periodic fever-infantile enterocolitis-autoinflammatory syndrome1 test
  • Periodontitis, aggressive 14 tests
  • Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development2 tests
  • Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome5 tests
  • Periventricular heterotopia with microcephaly, autosomal recessive2 tests
  • Periventricular nodular heterotopia 71 test
  • Perlman syndrome3 tests
  • Permanent neonatal diabetes mellitus25 tests
  • Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome2 tests
  • Peroxisome biogenesis disorder 10A (Zellweger)9 tests
  • Peroxisome biogenesis disorder 10B9 tests
  • Peroxisome biogenesis disorder 11A (Zellweger)9 tests
  • Peroxisome biogenesis disorder 11B9 tests
  • Peroxisome biogenesis disorder 12A (Zellweger)8 tests
  • Peroxisome biogenesis disorder 13A (Zellweger)8 tests
  • Peroxisome biogenesis disorder 14B7 tests
  • Peroxisome biogenesis disorder 1A (Zellweger)14 tests
  • Peroxisome biogenesis disorder 1B14 tests
  • Peroxisome biogenesis disorder 2A (Zellweger)9 tests
  • Peroxisome biogenesis disorder 2B9 tests
  • Peroxisome biogenesis disorder 3A (Zellweger)8 tests
  • Peroxisome biogenesis disorder 4A (Zellweger)9 tests
  • Peroxisome biogenesis disorder 4B9 tests
  • Peroxisome biogenesis disorder 5A (Zellweger)11 tests
  • Peroxisome biogenesis disorder 5B11 tests
  • Peroxisome biogenesis disorder 6A (Zellweger)11 tests
  • Peroxisome biogenesis disorder 6B11 tests
  • Peroxisome biogenesis disorder 7A (Zellweger)9 tests
  • Peroxisome biogenesis disorder 7B9 tests
  • Peroxisome biogenesis disorder 8A (Zellweger)9 tests
  • Peroxisome biogenesis disorder 8B9 tests
  • Peroxisome biogenesis disorder 9B15 tests
  • Peroxisome biogenesis disorder type 3B8 tests
  • Perrault syndrome 17 tests
  • Perrault syndrome 21 test
  • Perrault syndrome 33 tests
  • Perrault syndrome 54 tests
  • Perrault syndrome 61 test
  • Perry syndrome6 tests
  • Persistent hyperplastic primary vitreous, autosomal recessive3 tests
  • Persistent Mullerian duct syndrome4 tests
  • Peters plus syndrome6 tests
  • Pettigrew syndrome4 tests
  • Peutz-Jeghers syndrome7 tests
  • Pfeiffer syndrome20 tests
  • PGM1-congenital disorder of glycosylation5 tests
  • PHARC syndrome6 tests
  • Phelan-McDermid syndrome2 tests
  • Phenylketonuria4 tests
  • Pheochromocytoma32 tests
  • PHGDH deficiency2 tests
  • Phosphate transport defect7 tests
  • Phosphoenolpyruvate carboxykinase deficiency, cytosolic1 test
  • Phosphoenolpyruvate carboxykinase deficiency, mitochondrial1 test
  • Phosphoribosylpyrophosphate synthetase superactivity7 tests
  • Phytanic acid storage disease16 tests
  • Pick disease9 tests
  • Pierpont syndrome1 test
  • Pierson syndrome5 tests
  • Pigmentary pallidal degeneration5 tests
  • Pigmentary retinal dystrophy18 tests
  • Pigmented nodular adrenocortical disease, primary, 15 tests
  • Pigmented nodular adrenocortical disease, primary, 21 test
  • Pigmented nodular adrenocortical disease, primary, 32 tests
  • Pigmented paravenous retinochoroidal atrophy6 tests
  • Pili torti-deafness syndrome6 tests
  • Pilomatrixoma4 tests
  • Pineal hyperplasia AND diabetes mellitus syndrome5 tests
  • Pitt-Hopkins syndrome4 tests
  • Pitt-Hopkins-like syndrome 24 tests
  • Pituitary adenoma, growth hormone-secreting, 21 test
  • Pituitary dependent hypercortisolism4 tests
  • Pituitary hormone deficiency, combined, 14 tests
  • Pituitary hormone deficiency, combined, 26 tests
  • Pituitary hormone deficiency, combined, 69 tests
  • Pityriasis rubra pilaris3 tests
  • Plasminogen deficiency, type I3 tests
  • Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease4 tests
  • Platelet-type bleeding disorder 102 tests
  • Platelet-type bleeding disorder 113 tests
  • Platelet-type bleeding disorder 153 tests
  • Platelet-type bleeding disorder 164 tests
  • Platelet-type bleeding disorder 173 tests
  • Platelet-type bleeding disorder 182 tests
  • Platelet-type bleeding disorder 192 tests
  • Platelet-type bleeding disorder 203 tests
  • Platelet-type bleeding disorder 83 tests
  • Platelet-type bleeding disorder 91 test
  • Platyspondylic dysplasia, Torrance type18 tests
  • PMM2-congenital disorder of glycosylation12 tests
  • Poikiloderma with neutropenia3 tests
  • Polycystic kidney disease1 test
  • Polycystic kidney disease 28 tests
  • Polycystic kidney disease 3 with or without polycystic liver disease5 tests
  • Polycystic kidney disease 53 tests
  • Polycystic kidney disease 6 with or without polycystic liver disease2 tests
  • Polycystic kidney disease, adult type8 tests
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 13 tests
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 22 tests
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly1 test
  • Polycystic liver disease 14 tests
  • Polycystic liver disease 24 tests
  • Polycystic ovaries2 tests
  • Polydactyly of a triphalangeal thumb1 test
  • Polydactyly, postaxial, type A19 tests
  • Polydactyly, postaxial, type A81 test
  • Polydactyly, postaxial, type A91 test
  • Polyglandular autoimmune syndrome, type 16 tests
  • Polyglucosan body myopathy type 12 tests
  • Polymicrogyria with optic nerve hypoplasia3 tests
  • Polyposis syndrome, hereditary mixed, 11 test
  • Polyposis syndrome, hereditary mixed, 26 tests
  • Polysyndactyly 49 tests
  • Pontocerebellar hypoplasia type 1A5 tests
  • Pontocerebellar hypoplasia type 1B3 tests
  • Pontocerebellar hypoplasia type 2A3 tests
  • Pontocerebellar hypoplasia type 2B3 tests
  • Pontocerebellar hypoplasia type 2C2 tests
  • Pontocerebellar hypoplasia type 2E1 test
  • Pontocerebellar hypoplasia type 31 test
  • Pontocerebellar hypoplasia type 43 tests
  • Pontocerebellar hypoplasia type 62 tests
  • Pontocerebellar hypoplasia type 71 test
  • Pontocerebellar hypoplasia type 82 tests
  • Pontocerebellar hypoplasia type 92 tests
  • Pontocerebellar hypoplasia, type 122 tests
  • Pontocerebellar hypoplasia, type 1C2 tests
  • Pontocerebellar hypoplasia, type 2F1 test
  • Popliteal pterygium syndrome7 tests
  • Porencephaly 23 tests
  • Porencephaly-microcephaly-bilateral congenital cataract syndrome2 tests
  • Porokeratosis 3, disseminated superficial actinic type6 tests
  • Porokeratosis of Mibelli1 test
  • Porphobilinogen synthase deficiency2 tests
  • Portal hypertension, noncirrhotic6 tests
  • Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome7 tests
  • Posterior column ataxia-retinitis pigmentosa syndrome6 tests
  • Postmenopausal osteoporosis15 tests
  • Potassium-aggravated myotonia7 tests
  • Potocki-Lupski syndrome5 tests
  • PPARG-related familial partial lipodystrophy2 tests
  • Prader-Willi syndrome9 tests
  • Preaxial hand polydactyly1 test
  • Precocious puberty, central, 21 test
  • Predisposition to invasive fungal disease due to CARD9 deficiency3 tests
  • Preeclampsia/eclampsia 11 test
  • Pregnancy loss, recurrent, susceptibility to, 15 tests
  • Pregnancy loss, recurrent, susceptibility to, 26 tests
  • Prekallikrein deficiency2 tests
  • Premature chromatid separation trait2 tests
  • Premature ovarian failure 19 tests
  • Premature ovarian failure 1111 tests
  • Premature ovarian failure 122 tests
  • Premature ovarian failure 152 tests
  • Premature ovarian failure 33 tests
  • Premature ovarian failure 76 tests
  • Preterm premature rupture of membranes2 tests
  • Pretibial dystrophic epidermolysis bullosa4 tests
  • Primary CD59 deficiency2 tests
  • Primary ciliary dyskinesia 101 test
  • Primary ciliary dyskinesia 112 tests
  • Primary ciliary dyskinesia 123 tests
  • Primary ciliary dyskinesia 132 tests
  • Primary ciliary dyskinesia 142 tests
  • Primary ciliary dyskinesia 152 tests
  • Primary ciliary dyskinesia 162 tests
  • Primary ciliary dyskinesia 172 tests
  • Primary ciliary dyskinesia 182 tests
  • Primary ciliary dyskinesia 192 tests
  • Primary ciliary dyskinesia 22 tests
  • Primary ciliary dyskinesia 202 tests
  • Primary ciliary dyskinesia 211 test
  • Primary ciliary dyskinesia 221 test
  • Primary ciliary dyskinesia 232 tests
  • Primary ciliary dyskinesia 241 test
  • Primary ciliary dyskinesia 251 test
  • Primary ciliary dyskinesia 271 test
  • Primary ciliary dyskinesia 281 test
  • Primary ciliary dyskinesia 291 test
  • Primary ciliary dyskinesia 33 tests
  • Primary ciliary dyskinesia 301 test
  • Primary ciliary dyskinesia 321 test
  • Primary ciliary dyskinesia 331 test
  • Primary ciliary dyskinesia 341 test
  • Primary ciliary dyskinesia 52 tests
  • Primary ciliary dyskinesia 62 tests
  • Primary ciliary dyskinesia 72 tests
  • Primary ciliary dyskinesia 92 tests
  • Primary coenzyme Q10 deficiency 81 test
  • Primary dilated cardiomyopathy1 test
  • Primary erythromelalgia5 tests
  • Primary failure of tooth eruption1 test
  • Primary familial hypertrophic cardiomyopathy2 tests
  • Primary familial polycythemia due to EPO receptor mutation7 tests
  • Primary hyperoxaluria type 33 tests
  • Primary hyperoxaluria, type I7 tests
  • Primary hyperoxaluria, type II4 tests
  • Primary hypomagnesemia1 test
  • Primary immunodeficiency syndrome due to p14 deficiency3 tests
  • Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency2 tests
  • Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection2 tests
  • Primary intraosseous venous malformation2 tests
  • Primary open angle glaucoma2 tests
  • Progeroid and marfanoid aspect-lipodystrophy syndrome4 tests
  • Progeroid features-hepatocellular carcinoma predisposition syndrome1 test
  • Progressive bulbar palsy of childhood8 tests
  • Progressive demyelinating neuropathy with bilateral striatal necrosis5 tests
  • Progressive encephalopathy with leukodystrophy due to DECR deficiency4 tests
  • Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome1 test
  • Progressive external ophthalmoplegia1 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 117 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 28 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 39 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 45 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 57 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 117 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 21 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 34 tests
  • Progressive familial heart block type IB3 tests
  • Progressive familial heart block, type 1A11 tests
  • Progressive familial intrahepatic cholestasis type 13 tests
  • Progressive familial intrahepatic cholestasis type 22 tests
  • Progressive familial intrahepatic cholestasis type 32 tests
  • Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome3 tests
  • Progressive myoclonic epilepsy type 32 tests
  • Progressive myoclonic epilepsy type 62 tests
  • Progressive myositis ossificans2 tests
  • Progressive osseous heteroplasia6 tests
  • Progressive pseudorheumatoid dysplasia1 test
  • Progressive retinal dystrophy due to retinol transport defect2 tests
  • Progressive scapulohumeroperoneal distal myopathy9 tests
  • Progressive sclerosing poliodystrophy17 tests
  • Progressive supranuclear ophthalmoplegia2 tests
  • Progressive supranuclear palsy-parkinsonism syndrome2 tests
  • Prolidase deficiency1 test
  • Proliferative vitreoretinopathy2 tests
  • Proline dehydrogenase deficiency3 tests
  • Properdin deficiency, X-linked2 tests
  • Propionic acidemia5 tests
  • Prostate cancer, hereditary, 11 test
  • Prostate cancer, hereditary, 91 test
  • Protan defect1 test
  • Proteasome-associated autoinflammatory syndrome 12 tests
  • Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis4 tests
  • Proteus syndrome3 tests
  • Protoporphyria, erythropoietic, 12 tests
  • Proximal myopathy with extrapyramidal signs4 tests
  • Proximal symphalangism 1A2 tests
  • Prune belly syndrome2 tests
  • PSAT deficiency3 tests
  • Pseudo von Willebrand disease7 tests
  • Pseudo-Hurler polydystrophy4 tests
  • Pseudo-TORCH syndrome 11 test
  • Pseudo-TORCH syndrome 21 test
  • Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome4 tests
  • Pseudohyperaldosteronism type 23 tests
  • Pseudohypoaldosteronism type 2B1 test
  • Pseudohypoaldosteronism type 2C3 tests
  • Pseudohypoaldosteronism type 2D2 tests
  • Pseudohypoaldosteronism type 2E3 tests
  • Pseudohypoparathyroidism6 tests
  • Pseudohypoparathyroidism type 1B11 tests
  • Pseudohypoparathyroidism type 1C6 tests
  • Pseudopseudohypoparathyroidism6 tests
  • Pseudoxanthoma elasticum6 tests
  • Pseudoxanthoma elasticum, forme fruste3 tests
  • Psoriasis 13, susceptibility to3 tests
  • Psoriasis 15, pustular, susceptibility to1 test
  • Psoriasis 23 tests
  • Psoriasis 7, susceptibility to1 test
  • Pterin-4 alpha-carbinolamine dehydratase 1 deficiency2 tests
  • PULMONARY ALVEOLAR MICROLITHIASIS1 test
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 15 tests
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 25 tests
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 35 tests
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 43 tests
  • Pulmonary hypertension, primary, 13 tests
  • Pulmonary hypertension, primary, 22 tests
  • Pulmonary hypertension, primary, 32 tests
  • Pulmonary hypertension, primary, 42 tests
  • Pulmonary venoocclusive disease 1, autosomal dominant3 tests
  • PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome1 test
  • Purine-nucleoside phosphorylase deficiency2 tests
  • PYCR1-related de Barsy syndrome2 tests
  • Pyknodysostosis4 tests
  • Pyle metaphyseal dysplasia1 test
  • Pyogenic arthritis-pyoderma gangrenosum-acne syndrome2 tests
  • Pyogenic bacterial infections due to MyD88 deficiency2 tests
  • Pyridoxal phosphate-responsive seizures3 tests
  • Pyridoxine-dependent epilepsy2 tests
  • Pyropoikilocytosis, hereditary1 test
  • Pyruvate carboxylase deficiency7 tests
  • Pyruvate dehydrogenase E1-alpha deficiency8 tests
  • Pyruvate dehydrogenase E1-beta deficiency4 tests
  • Pyruvate dehydrogenase E2 deficiency6 tests
  • Pyruvate dehydrogenase E3 deficiency8 tests
  • Pyruvate dehydrogenase E3-binding protein deficiency6 tests
  • Pyruvate dehydrogenase phosphatase deficiency4 tests
  • Pyruvate kinase deficiency of red cells2 tests
  • Pyruvate kinase hyperactivity2 tests
  • Quebec platelet disorder3 tests
  • Question mark ears, isolated1 test
  • RAB23-related Carpenter syndrome4 tests
  • Radial aplasia-thrombocytopenia syndrome6 tests
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 13 tests
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 22 tests
  • Rafiq syndrome2 tests
  • Rahman syndrome1 test
  • Rapadilino syndrome5 tests
  • Rapp-Hodgkin ectodermal dysplasia syndrome8 tests
  • RCBTB1-related retinopathy1 test
  • Recessive dystrophic epidermolysis bullosa4 tests
  • Recurrent infections associated with rare immunoglobulin isotypes deficiency1 test
  • Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome2 tests
  • Reis-Bucklers' corneal dystrophy2 tests
  • Renal carnitine transport defect7 tests
  • Renal cell carcinoma, papillary, 16 tests
  • Renal coloboma syndrome6 tests
  • Renal cysts and diabetes syndrome10 tests
  • Renal dysplasia, cystic, susceptibility to2 tests
  • Renal hypodysplasia/aplasia 12 tests
  • Renal hypodysplasia/aplasia 21 test
  • Renal hypodysplasia/aplasia 31 test
  • Renal hypomagnesemia 21 test
  • Renal hypomagnesemia 41 test
  • Renal hypomagnesemia 5 with ocular involvement1 test
  • Renal hypomagnesemia 61 test
  • Renal tubular acidosis with progressive nerve deafness2 tests
  • Renal tubular acidosis, distal, 4, with hemolytic anemia2 tests
  • Renal tubular dysgenesis7 tests
  • Renal-hepatic-pancreatic dysplasia 19 tests
  • Renpenning syndrome3 tests
  • Reticular dysgenesis2 tests
  • Reticulate acropigmentation of Kitamura1 test
  • Retinal arterial tortuosity10 tests
  • Retinal cone dystrophy 3A2 tests
  • Retinal cone dystrophy 43 tests
  • Retinal dystrophy and obesity2 tests
  • Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies3 tests
  • Retinal dystrophy with leukodystrophy1 test
  • Retinal dystrophy with or without macular staphyloma1 test
  • Retinal macular dystrophy type 26 tests
  • Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations7 tests
  • Retinitis pigmentosa23 tests
  • Retinitis pigmentosa 13 tests
  • Retinitis pigmentosa 105 tests
  • Retinitis pigmentosa 113 tests
  • Retinitis pigmentosa 126 tests
  • Retinitis pigmentosa 133 tests
  • Retinitis pigmentosa 145 tests
  • Retinitis pigmentosa 173 tests
  • Retinitis pigmentosa 183 tests
  • Retinitis pigmentosa 196 tests
  • Retinitis pigmentosa 24 tests
  • Retinitis pigmentosa 205 tests
  • Retinitis pigmentosa 239 tests
  • Retinitis pigmentosa 254 tests
  • Retinitis pigmentosa 264 tests
  • Retinitis pigmentosa 273 tests
  • Retinitis pigmentosa 283 tests
  • Retinitis pigmentosa 37 tests
  • Retinitis pigmentosa 305 tests
  • Retinitis pigmentosa 314 tests
  • Retinitis pigmentosa 333 tests
  • Retinitis pigmentosa 353 tests
  • Retinitis pigmentosa 363 tests
  • Retinitis pigmentosa 373 tests
  • Retinitis pigmentosa 384 tests
  • Retinitis pigmentosa 396 tests
  • Retinitis pigmentosa 46 tests
  • Retinitis pigmentosa 405 tests
  • Retinitis pigmentosa 416 tests
  • Retinitis pigmentosa 424 tests
  • Retinitis pigmentosa 434 tests
  • Retinitis pigmentosa 443 tests
  • Retinitis pigmentosa 453 tests
  • Retinitis pigmentosa 464 tests
  • Retinitis pigmentosa 475 tests
  • Retinitis pigmentosa 483 tests
  • Retinitis pigmentosa 493 tests
  • Retinitis pigmentosa 509 tests
  • Retinitis pigmentosa 518 tests
  • Retinitis pigmentosa 542 tests
  • Retinitis pigmentosa 558 tests
  • Retinitis pigmentosa 565 tests
  • Retinitis pigmentosa 573 tests
  • Retinitis pigmentosa 582 tests
  • Retinitis pigmentosa 593 tests
  • Retinitis pigmentosa 603 tests
  • Retinitis pigmentosa 618 tests
  • Retinitis pigmentosa 623 tests
  • Retinitis pigmentosa 663 tests
  • Retinitis pigmentosa 672 tests
  • Retinitis pigmentosa 681 test
  • Retinitis pigmentosa 691 test
  • Retinitis pigmentosa 713 tests
  • Retinitis pigmentosa 702 tests
  • Retinitis pigmentosa 714 tests
  • Retinitis pigmentosa 722 tests
  • Retinitis pigmentosa 734 tests
  • Retinitis pigmentosa 747 tests
  • Retinitis pigmentosa 752 tests
  • Retinitis pigmentosa 766 tests
  • Retinitis pigmentosa 782 tests
  • Retinitis pigmentosa 798 tests
  • Retinitis pigmentosa 841 test
  • Retinitis pigmentosa 861 test
  • Retinitis pigmentosa 881 test
  • Retinitis pigmentosa 93 tests
  • Retinitis pigmentosa and erythrocytic microcytosis3 tests
  • Retinitis pigmentosa with or without situs inversus2 tests
  • Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness7 tests
  • Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome1 test
  • Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome1 test
  • Retinoblastoma7 tests
  • Rett syndrome6 tests
  • Rett syndrome, congenital variant6 tests
  • Revesz syndrome4 tests
  • Reynolds syndrome4 tests
  • RFT1-congenital disorder of glycosylation3 tests
  • Rhabdoid tumor predisposition syndrome 14 tests
  • Rhabdoid tumor predisposition syndrome 24 tests
  • Rhabdomyosarcoma, embryonal, 23 tests
  • Rheumatoid arthritis4 tests
  • Rhizomelic chondrodysplasia punctata type 115 tests
  • Rhizomelic chondrodysplasia punctata type 24 tests
  • Rhizomelic chondrodysplasia punctata type 34 tests
  • Rhizomelic chondrodysplasia punctata type 59 tests
  • Richieri Costa-Pereira syndrome2 tests
  • Rickets1 test
  • RIDDLE syndrome1 test
  • Rienhoff syndrome6 tests
  • Right atrial isomerism3 tests
  • RIN2 syndrome2 tests
  • Ring dermoid of cornea5 tests
  • Rippling muscle disease 29 tests
  • Ritscher-Schinzel syndrome 16 tests
  • Ritscher-Schinzel syndrome 21 test
  • Roberts-SC phocomelia syndrome5 tests
  • Robinow-Sorauf syndrome6 tests
  • Roifman syndrome4 tests
  • Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked1 test
  • Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome4 tests
  • Rothmund-Thomson syndrome type 25 tests
  • Rotor syndrome3 tests
  • Roussy-Lévy syndrome8 tests
  • Rubinstein-Taybi syndrome due to 16p13.3 microdeletion1 test
  • Rubinstein-Taybi syndrome due to CREBBP mutations8 tests
  • Rubinstein-Taybi syndrome due to EP300 haploinsufficiency4 tests
  • Sacral defect with anterior meningocele2 tests
  • Saethre-Chotzen syndrome16 tests
  • Saldino-Mainzer syndrome7 tests
  • Salla disease7 tests
  • Sandhoff disease4 tests
  • Sarcoidosis, susceptibility to, 21 test
  • Sarcotubular myopathy10 tests
  • Scalp-ear-nipple syndrome1 test
  • Scapuloperoneal spinal muscular atrophy9 tests
  • SchC6pf-Schulz-Passarge syndrome3 tests
  • Schimke immuno-osseous dysplasia3 tests
  • Schinzel phocomelia syndrome2 tests
  • Schinzel-Giedion syndrome3 tests
  • Schizencephaly10 tests
  • Schizophrenia9 tests
  • Schizophrenia 151 test
  • Schizophrenia 43 tests
  • Schizophrenia 91 test
  • Schneckenbecken dysplasia1 test
  • Schnyder crystalline corneal dystrophy1 test
  • Schwannomatosis 19 tests
  • Schwannomatosis 23 tests
  • Schwartz-Jampel syndrome3 tests
  • Sclerosteosis 13 tests
  • Sclerosteosis 22 tests
  • SCOTT SYNDROME3 tests
  • Sea-blue histiocyte syndrome3 tests
  • Seborrheic keratosis6 tests
  • Seckel syndrome1 test
  • Seckel syndrome 15 tests
  • Seckel syndrome 101 test
  • Seckel syndrome 24 tests
  • Seckel syndrome 43 tests
  • Seckel syndrome 63 tests
  • Seckel syndrome 73 tests
  • Seizures, benign familial infantile, 27 tests
  • Seizures, benign familial infantile, 34 tests
  • Seizures, benign familial infantile, 54 tests
  • Seizures, benign familial neonatal, 14 tests
  • Seizures, benign familial neonatal, 25 tests
  • Selective pituitary resistance to thyroid hormone2 tests
  • Sengers syndrome5 tests
  • Senior-Loken syndrome 112 tests
  • Senior-Loken syndrome 411 tests
  • Senior-Loken syndrome 56 tests
  • Senior-Loken syndrome 610 tests
  • Senior-Loken syndrome 91 test
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis17 tests
  • Septo-optic dysplasia sequence8 tests
  • SERKAL syndrome4 tests
  • Sessile serrated polyposis cancer syndrome2 tests
  • Severe achondroplasia-developmental delay-acanthosis nigricans syndrome11 tests
  • Severe combined immunodeficiency due to CARD11 deficiency2 tests
  • Severe combined immunodeficiency due to CARMIL2 deficiency1 test
  • Severe combined immunodeficiency due to CD70 deficiency1 test
  • Severe combined immunodeficiency due to CORO1A deficiency2 tests
  • Severe combined immunodeficiency due to CTPS1 deficiency1 test
  • Severe combined immunodeficiency due to DCLRE1C deficiency5 tests
  • Severe combined immunodeficiency due to DNA-PKcs deficiency1 test
  • Severe combined immunodeficiency due to IKK2 deficiency1 test
  • Severe combined immunodeficiency due to LAT deficiency1 test
  • Severe combined immunodeficiency due to LCK deficiency1 test
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency4 tests
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive8 tests
  • Severe congenital hypochromic anemia with ringed sideroblasts1 test
  • Severe dermatitis-multiple allergies-metabolic wasting syndrome2 tests
  • Severe early-childhood-onset retinal dystrophy8 tests
  • Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency2 tests
  • Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome2 tests
  • Severe intellectual disability-progressive spastic diplegia syndrome4 tests
  • Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome2 tests
  • Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome3 tests
  • Severe myoclonic epilepsy in infancy9 tests
  • Severe neonatal-onset encephalopathy with microcephaly6 tests
  • Severe neurodegenerative syndrome with lipodystrophy6 tests
  • Severe X-linked mitochondrial encephalomyopathy5 tests
  • Severe X-linked myotubular myopathy3 tests
  • Sex-linked hereditary disorder1 test
  • Shashi-Pena syndrome1 test
  • Short QT syndrome1 test
  • Short QT syndrome type 19 tests
  • Short QT syndrome type 214 tests
  • Short QT syndrome type 311 tests
  • Short stature due to growth hormone qualitative anomaly4 tests
  • Short stature due to growth hormone secretagogue receptor deficiency1 test
  • Short stature due to partial GHR deficiency3 tests
  • Short stature due to primary acid-labile subunit deficiency1 test
  • Short stature with nonspecific skeletal abnormalities1 test
  • Short stature, microcephaly, and endocrine dysfunction1 test
  • Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay1 test
  • Short stature-brachydactyly-obesity-global developmental delay syndrome1 test
  • Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome1 test
  • Short stature-pituitary and cerebellar defects-small sella turcica syndrome5 tests
  • SHORT syndrome3 tests
  • Short-rib thoracic dysplasia 10 with or without polydactyly4 tests
  • Short-rib thoracic dysplasia 11 with or without polydactyly3 tests
  • Short-rib thoracic dysplasia 13 with or without polydactyly2 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 polydactyly1 test
  • Short-rib thoracic dysplasia 6 with or without polydactyly5 tests
  • Short-rib thoracic dysplasia 7 with or without polydactyly6 tests
  • Short-rib thoracic dysplasia 8 with or without polydactyly4 tests
  • SHOX-related short stature8 tests
  • Shprintzen-Goldberg syndrome4 tests
  • Shwachman-Diamond syndrome 16 tests
  • Shwachman-Diamond syndrome 21 test
  • Sialic acid storage disease, severe infantile type7 tests
  • Sialidosis type 25 tests
  • Sialuria7 tests
  • Sick sinus syndrome 111 tests
  • Sick sinus syndrome 2, autosomal dominant6 tests
  • Sideroblastic anemia 22 tests
  • Sideroblastic anemia 35 tests
  • Silver-Russell syndrome 13 tests
  • Silver-Russell syndrome 32 tests
  • Simpson-Golabi-Behmel syndrome type 110 tests
  • Simpson-Golabi-Behmel syndrome type 29 tests
  • Singleton-Merten syndrome 15 tests
  • Singleton-Merten syndrome 21 test
  • Sinoatrial node dysfunction and deafness2 tests
  • Sitosterolemia 14 tests
  • Sitosterolemia 22 tests
  • Situs ambiguus1 test
  • Sjögren-Larsson syndrome6 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 syndrome5 tests
  • Skin/hair/eye pigmentation, variation in, 111 test
  • Skin/hair/eye pigmentation, variation in, 43 tests
  • SLC35A1-congenital disorder of glycosylation2 tests
  • SLC35A2-congenital disorder of glycosylation3 tests
  • Sleep-related hypermotor epilepsy2 tests
  • Small cell lung carcinoma6 tests
  • Smith-Lemli-Opitz syndrome11 tests
  • Smith-Magenis syndrome4 tests
  • Smith-McCort dysplasia 13 tests
  • Sneddon syndrome2 tests
  • Snowflake vitreoretinal degeneration4 tests
  • Sodium serum level quantitative trait locus 19 tests
  • Solitary median maxillary central incisor syndrome8 tests
  • Somatotroph adenoma3 tests
  • Sorsby fundus dystrophy6 tests
  • Sotos syndrome 17 tests
  • Southeast Asian ovalocytosis2 tests
  • Spastic ataxia 14 tests
  • Spastic ataxia 22 tests
  • Spastic ataxia 35 tests
  • Spastic ataxia 44 tests
  • Spastic ataxia 56 tests
  • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy1 test
  • Spastic paraplegia 52, autosomal recessive2 tests
  • Spastic paraplegia-severe developmental delay-epilepsy syndrome1 test
  • Specific granule deficiency 11 test
  • Specific granule deficiency 22 tests
  • Spermatogenic Failure1 test
  • Spermatogenic failure 101 test
  • Spermatogenic failure 112 tests
  • Spermatogenic failure 123 tests
  • Spermatogenic failure 133 tests
  • Spermatogenic failure 141 test
  • Spermatogenic failure 152 tests
  • Spermatogenic failure 162 tests
  • Spermatogenic failure 172 tests
  • Spermatogenic failure 284 tests
  • Spermatogenic failure 32 tests
  • Spermatogenic failure 43 tests
  • Spermatogenic failure 76 tests
  • Spermatogenic failure 86 tests
  • Spermatogenic failure 94 tests
  • Spermatogenic failure, X-linked, 22 tests
  • Spermatogenic failure, Y-linked, 22 tests
  • Spheroid body myopathy5 tests
  • Sphingolipid activator protein 1 deficiency5 tests
  • Spinal muscular atrophy1 test
  • Spinal muscular atrophy with congenital bone fractures 12 tests
  • Spinal muscular atrophy with congenital bone fractures 21 test
  • Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant3 tests
  • Spinal muscular atrophy, type II4 tests
  • Spinal muscular atrophy, type IV4 tests
  • Spinal muscular atrophy-progressive myoclonic epilepsy syndrome3 tests
  • Spinocerebellar ataxia 433 tests
  • Spinocerebellar ataxia 71 test
  • Spinocerebellar ataxia type 11 test
  • Spinocerebellar ataxia type 102 tests
  • Spinocerebellar ataxia type 112 tests
  • Spinocerebellar ataxia type 121 test
  • Spinocerebellar ataxia type 132 tests
  • Spinocerebellar ataxia type 144 tests
  • Spinocerebellar ataxia type 15/163 tests
  • Spinocerebellar ataxia type 171 test
  • Spinocerebellar ataxia type 181 test
  • Spinocerebellar ataxia type 19/226 tests
  • Spinocerebellar ataxia type 21 test
  • Spinocerebellar ataxia type 211 test
  • Spinocerebellar ataxia type 234 tests
  • Spinocerebellar ataxia type 262 tests
  • Spinocerebellar ataxia type 272 tests
  • Spinocerebellar ataxia type 286 tests
  • Spinocerebellar ataxia type 293 tests
  • Spinocerebellar ataxia type 352 tests
  • Spinocerebellar ataxia type 381 test
  • Spinocerebellar ataxia type 42 tests
  • Spinocerebellar ataxia type 402 tests
  • Spinocerebellar ataxia type 421 test
  • Spinocerebellar ataxia type 52 tests
  • Spinocerebellar ataxia type 610 tests
  • Spinocerebellar ataxia type 81 test
  • Spinocerebellar ataxia, autosomal recessive 241 test
  • Spinocerebellar ataxia, autosomal recessive 262 tests
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 13 tests
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 27 tests
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 32 tests
  • Split hand-foot malformation 1 with sensorineural hearing loss3 tests
  • Split hand-foot malformation 48 tests
  • Split hand-foot malformation 63 tests
  • Split-foot malformation-mesoaxial polydactyly syndrome1 test
  • Spondylo-megaepiphyseal-metaphyseal dysplasia1 test
  • Spondylocarpotarsal synostosis syndrome5 tests
  • Spondylocostal dysostosis 1, autosomal recessive4 tests
  • Spondylocostal dysostosis 2, autosomal recessive3 tests
  • Spondylocostal dysostosis 3, autosomal recessive2 tests
  • Spondylocostal dysostosis 4, autosomal recessive2 tests
  • Spondylocostal dysostosis 52 tests
  • Spondylocostal dysostosis 6, autosomal recessive3 tests
  • Spondyloenchondrodysplasia with immune dysregulation2 tests
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures3 tests
  • Spondyloepimetaphyseal dysplasia with multiple dislocations2 tests
  • Spondyloepimetaphyseal dysplasia, Bieganski type5 tests
  • Spondyloepimetaphyseal dysplasia, Maroteaux type9 tests
  • Spondyloepimetaphyseal dysplasia, matrilin-3 type1 test
  • Spondyloepimetaphyseal dysplasia, Missouri type2 tests
  • Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome1 test
  • Spondyloepiphyseal dysplasia congenita18 tests
  • Spondyloepiphyseal dysplasia tarda2 tests
  • Spondyloepiphyseal dysplasia with congenital joint dislocations1 test
  • Spondylometaphyseal dysplasia18 tests
  • Spondylometaphyseal dysplasia, Kozlowski type9 tests
  • Spondylometaphyseal dysplasia, Sedaghatian type1 test
  • Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome2 tests
  • Spondyloperipheral dysplasia18 tests
  • Spongiform encephalopathy with neuropsychiatric features9 tests
  • Spongy degeneration of central nervous system7 tests
  • SRD5A3-congenital disorder of glycosylation5 tests
  • SSR4-congenital disorder of glycosylation2 tests
  • Stapes ankylosis with broad thumbs and toes2 tests
  • Stargardt disease 38 tests
  • Stargardt disease 46 tests
  • STAT3-related early-onset multisystem autoimmune disease8 tests
  • Steatocystoma multiplex3 tests
  • Steinert myotonic dystrophy syndrome3 tests
  • Sterile multifocal osteomyelitis with periostitis and pustulosis2 tests
  • Sterol carrier protein 2 deficiency6 tests
  • Stickler syndrome type 118 tests
  • Stickler syndrome type 26 tests
  • Stickler syndrome, type 44 tests
  • Stickler syndrome, type 54 tests
  • Stickler syndrome, type I, nonsyndromic ocular18 tests
  • Stiff skin syndrome4 tests
  • STING-associated vasculopathy with onset in infancy2 tests
  • Striatal degeneration, autosomal dominant 22 tests
  • Striatonigral degeneration, childhood-onset1 test
  • Stromme syndrome1 test
  • STT3A-congenital disorder of glycosylation2 tests
  • STT3B-congenital disorder of glycosylation2 tests
  • Sturge-Weber syndrome4 tests
  • Stuttering, familial persistent, 12 tests
  • Stuve-Wiedemann syndrome2 tests
  • Succinate-semialdehyde dehydrogenase deficiency3 tests
  • Succinyl-CoA acetoacetate transferase deficiency2 tests
  • Sucrase-isomaltase deficiency2 tests
  • Sudden cardiac failure, alcohol-induced1 test
  • Sudden cardiac failure, infantile1 test
  • Sudden death1 test
  • SUDDEN INFANT DEATH SYNDROME11 tests
  • Sudden infant death-dysgenesis of the testes syndrome1 test
  • Sulfite oxidase deficiency3 tests
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A1 test
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B2 tests
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C1 test
  • Supravalvar aortic stenosis2 tests
  • Surfactant metabolism dysfunction, pulmonary, 22 tests
  • Surfactant metabolism dysfunction, pulmonary, 45 tests
  • Surfactant metabolism dysfunction, pulmonary, 53 tests
  • Susceptibility to HIV infection4 tests
  • Susceptibility to mononeuropathy of the median nerve, mild5 tests
  • Susceptibility to respiratory infections associated with CD8alpha chain mutation1 test
  • Symmetrical dyschromatosis of extremities9 tests
  • Symphalangism, proximal, 1B4 tests
  • Symphalangism-brachydactyly syndrome2 tests
  • Syndactyly type 35 tests
  • Syndactyly type 41 test
  • Syndactyly type 52 tests
  • Syndactyly-telecanthus-anogenital and renal malformations syndrome3 tests
  • Syndromic microphthalmia type 59 tests
  • Syndromic multisystem autoimmune disease due to ITCH deficiency1 test
  • Syndromic X-linked intellectual disability 142 tests
  • Syndromic X-linked intellectual disability 941 test
  • Syndromic X-linked intellectual disability Claes-Jensen type2 tests
  • Syndromic X-linked intellectual disability Hedera type3 tests
  • Syndromic X-linked intellectual disability Lubs type6 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 type3 tests
  • Syndromic X-linked intellectual disability Snyder type2 tests
  • Synpolydactyly type 12 tests
  • Synpolydactyly type 21 test
  • Systemic lupus erythematosus13 tests
  • Systemic lupus erythematosus, susceptibility to, 93 tests
  • T-B+ severe combined immunodeficiency due to JAK3 deficiency3 tests
  • T-cell immunodeficiency, congenital alopecia, and nail dystrophy2 tests
  • Tall stature-intellectual disability-facial dysmorphism syndrome4 tests
  • Tall stature-scoliosis-macrodactyly of the great toes syndrome2 tests
  • Tangier disease4 tests
  • TARP syndrome1 test
  • Tarsal-carpal coalition syndrome2 tests
  • Tay-Sachs disease8 tests
  • Tay-Sachs disease, variant AB4 tests
  • TCF12-related craniosynostosis3 tests
  • TCR-alpha-beta-positive T-cell deficiency1 test
  • Telangiectasia, hereditary hemorrhagic, type 16 tests
  • Telangiectasia, hereditary hemorrhagic, type 25 tests
  • Telangiectasia, hereditary hemorrhagic, type 53 tests
  • TELO2-related intellectual disability-neurodevelopmental disorder2 tests
  • Temple-Baraitser syndrome1 test
  • Temtamy preaxial brachydactyly syndrome2 tests
  • Temtamy syndrome2 tests
  • Terminal osseous dysplasia-pigmentary defects syndrome9 tests
  • Testicular anomalies with or without congenital heart disease3 tests
  • Testosterone 17-beta-dehydrogenase deficiency3 tests
  • Tetraamelia syndrome 12 tests
  • Tetralogy of Fallot18 tests
  • TFRC-related combined immunodeficiency2 tests
  • Thanatophoric dysplasia type 111 tests
  • Thanatophoric dysplasia, type 211 tests
  • Thiel-Behnke corneal dystrophy2 tests
  • Thiopurine methyltransferase deficiency1 test
  • Thrombocythemia 18 tests
  • Thrombocythemia 27 tests
  • Thrombocythemia 36 tests
  • Thrombocytopenia 18 tests
  • Thrombocytopenia 24 tests
  • Thrombocytopenia 32 tests
  • Thrombocytopenia 43 tests
  • Thrombocytopenia 52 tests
  • Thrombocytopenia 62 tests
  • Thrombocytopenia, anemia, and myelofibrosis1 test
  • Thrombocytopenia, X-linked, with or without dyserythropoietic anemia8 tests
  • Thrombomodulin-related bleeding disorder4 tests
  • Thrombophilia2 tests
  • Thrombophilia due to activated protein C resistance5 tests
  • 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 dominant3 tests
  • Thrombophilia due to protein S deficiency, autosomal recessive3 tests
  • Thrombophilia due to thrombin defect13 tests
  • Thrombophilia, familial, due to decreased release of tissue plasminogen activator1 test
  • Thrombophilia, X-linked, due to factor 9 defect4 tests
  • Thyroid cancer, nonmedullary, 16 tests
  • Thyroid cancer, nonmedullary, 212 tests
  • Thyroid cancer, nonmedullary, 41 test
  • Thyroid cancer, nonmedullary, 51 test
  • Thyroid hormone metabolism, abnormal 11 test
  • Thyroid hormone resistance, generalized, autosomal dominant2 tests
  • Thyroid hormone resistance, generalized, autosomal recessive2 tests
  • Thyrotoxic periodic paralysis, susceptibility to, 14 tests
  • Thyrotoxic periodic paralysis, susceptibility to, 22 tests
  • Tibia, hypoplasia or aplasia of, with polydactyly1 test
  • Tibial muscular dystrophy11 tests
  • Tietz syndrome3 tests
  • Timothy syndrome9 tests
  • TMEM165-congenital disorder of glycosylation2 tests
  • TNF receptor-associated periodic fever syndrome (TRAPS)4 tests
  • Tobacco addiction, susceptibility to7 tests
  • Tooth agenesis, selective, 13 tests
  • Tooth agenesis, selective, 31 test
  • Tooth agenesis, selective, 43 tests
  • Tooth agenesis, selective, 71 test
  • Tooth agenesis, selective, 83 tests
  • Tooth agenesis, selective, X-linked, 12 tests
  • Torsion dystonia 23 tests
  • Torsion dystonia 46 tests
  • Torsion dystonia 62 tests
  • Torticollis1 test
  • Townes-Brocks syndrome 16 tests
  • Townes-Brocks syndrome 22 tests
  • Transcobalamin II deficiency2 tests
  • Transient bullous dermolysis of the newborn4 tests
  • Transient infantile hypertriglyceridemia and hepatosteatosis2 tests
  • Transketolase deficiency2 tests
  • Transposition of the great arteries, dextro-looped4 tests
  • Treacher Collins syndrome 12 tests
  • Treacher Collins syndrome 23 tests
  • Treacher Collins syndrome 35 tests
  • Tremor, hereditary essential, 11 test
  • Tremor, hereditary essential, 43 tests
  • Tricho-dento-osseous syndrome1 test
  • Trichohepatoenteric syndrome 14 tests
  • Trichohepatoenteric syndrome 22 tests
  • Trichomegaly-retina pigmentary degeneration-dwarfism syndrome8 tests
  • Trichorhinophalangeal dysplasia type I3 tests
  • Trichorhinophalangeal syndrome, type III3 tests
  • Trichothiodystrophy 1, photosensitive8 tests
  • Trichothiodystrophy 2, photosensitive9 tests
  • Trichothiodystrophy 3, photosensitive5 tests
  • Trichothiodystrophy 4, nonphotosensitive3 tests
  • Trichothiodystrophy 5, nonphotosensitive1 test
  • Trichothiodystrophy 6, nonphotosensitive1 test
  • Triglyceride storage disease with ichthyosis4 tests
  • Trigonocephaly 113 tests
  • Trigonocephaly 25 tests
  • Trimethylaminuria1 test
  • Triosephosphate isomerase deficiency2 tests
  • Trisomy X syndrome2 tests
  • Tropical pancreatitis3 tests
  • Troyer syndrome3 tests
  • Tuberous sclerosis 19 tests
  • Tuberous sclerosis 29 tests
  • Tubulointerstitial kidney disease, autosomal dominant, 23 tests
  • Tumoral calcinosis, hyperphosphatemic, familial, 13 tests
  • Tumoral calcinosis, hyperphosphatemic, familial, 32 tests
  • Turcot syndrome22 tests
  • Turner syndrome2 tests
  • TWIST1-related craniosynostosis6 tests
  • Type 1 diabetes mellitus 103 tests
  • Type 1 diabetes mellitus 124 tests
  • Type 1 diabetes mellitus 26 tests
  • Type 1 diabetes mellitus 206 tests
  • Type 2 diabetes mellitus45 tests
  • Type I complement component 8 deficiency1 test
  • Type II complement component 8 deficiency1 test
  • Tyrosinase-negative oculocutaneous albinism5 tests
  • Tyrosinase-positive oculocutaneous albinism5 tests
  • Tyrosinemia type I7 tests
  • Tyrosinemia type II3 tests
  • Tyrosinemia type III2 tests
  • UDPglucose-4-epimerase deficiency3 tests
  • Ullrich congenital muscular dystrophy 111 tests
  • Ullrich congenital muscular dystrophy 24 tests
  • Ulnar-mammary syndrome2 tests
  • Unverricht-Lundborg syndrome4 tests
  • Upshaw-Schulman syndrome3 tests
  • Urocanate hydratase deficiency1 test
  • Urofacial syndrome 23 tests
  • Urofacial syndrome type 14 tests
  • Usher syndrome type 16 tests
  • Usher syndrome type 1C5 tests
  • Usher syndrome type 1D11 tests
  • Usher syndrome type 1F9 tests
  • Usher syndrome type 1G5 tests
  • Usher syndrome type 1J5 tests
  • Usher syndrome type 2A7 tests
  • Usher syndrome type 2C7 tests
  • Usher syndrome type 2D5 tests
  • Usher syndrome type 38 tests
  • Usher syndrome type 3B5 tests
  • Usher syndrome, type 43 tests
  • UV-sensitive syndrome 111 tests
  • UV-sensitive syndrome 29 tests
  • UV-sensitive syndrome 31 test
  • Uveal coloboma-cleft lip and palate-intellectual disability1 test
  • VACTERL association, X-linked, with or without hydrocephalus10 tests
  • Van Buchem disease type 29 tests
  • Van den Ende-Gupta syndrome4 tests
  • Van der Woude syndrome 17 tests
  • Van der Woude syndrome 23 tests
  • Van Maldergem syndrome 11 test
  • Van Maldergem syndrome 23 tests
  • Vanishing white matter disease13 tests
  • Variegate porphyria9 tests
  • Vas deferens, congenital bilateral aplasia of, X-linked1 test
  • Vasculitis due to ADA2 deficiency1 test
  • Velocardiofacial syndrome5 tests
  • Ventricular fibrillation, paroxysmal familial, 21 test
  • Ventricular fibrillation, paroxysmal familial, type 111 tests
  • Ventricular septal defect 13 tests
  • Ventricular septal defect 35 tests
  • Ventriculomegaly-cystic kidney disease5 tests
  • Very long chain acyl-CoA dehydrogenase deficiency8 tests
  • Vesicoureteral reflux 22 tests
  • Vesicoureteral reflux 32 tests
  • Vesicoureteral reflux 83 tests
  • VEXAS syndrome1 test
  • Vici syndrome7 tests
  • Visceral myopathy3 tests
  • Visceral neuropathy, familial, 2, autosomal recessive1 test
  • Vitamin D hydroxylation-deficient rickets, type 1B4 tests
  • Vitamin D-dependent rickets type II with alopecia1 test
  • Vitamin D-dependent rickets, type 12 tests
  • Vitamin K-dependent clotting factors, combined deficiency of, type 12 tests
  • Vitamin K-dependent clotting factors, combined deficiency of, type 22 tests
  • Vitelliform macular dystrophy 29 tests
  • Vitelliform macular dystrophy 45 tests
  • Vitelliform macular dystrophy 55 tests
  • Vitiligo-associated multiple autoimmune disease susceptibility 12 tests
  • Von Hippel-Lindau syndrome9 tests
  • von Willebrand disease type 16 tests
  • von Willebrand disease type 26 tests
  • von Willebrand disease type 36 tests
  • Waardenburg syndrome type 14 tests
  • Waardenburg syndrome type 2A3 tests
  • Waardenburg syndrome type 2D4 tests
  • Waardenburg syndrome type 2E9 tests
  • Waardenburg syndrome type 34 tests
  • Waardenburg syndrome type 4A5 tests
  • Waardenburg syndrome type 4B6 tests
  • Waardenburg syndrome type 4C9 tests
  • Wagner syndrome3 tests
  • Warburg micro syndrome 14 tests
  • Warburg micro syndrome 25 tests
  • Warburg micro syndrome 33 tests
  • Warburg micro syndrome 42 tests
  • Warfarin response6 tests
  • Warts, hypogammaglobulinemia, infections, and myelokathexis4 tests
  • Weaver syndrome7 tests
  • Weill-Marchesani syndrome 14 tests
  • Weill-Marchesani syndrome 2, dominant4 tests
  • Weill-Marchesani syndrome 32 tests
  • Welander distal myopathy3 tests
  • Werdnig-Hoffmann disease4 tests
  • Werner syndrome7 tests
  • Wieacker-Wolff syndrome2 tests
  • Wiedemann-Steiner syndrome2 tests
  • Williams syndrome4 tests
  • Wilms tumor 131 tests
  • Wilms tumor 21 test
  • Wilson disease7 tests
  • Wiskott-Aldrich syndrome8 tests
  • Wiskott-Aldrich syndrome 25 tests
  • Wolcott-Rallison dysplasia2 tests
  • Wolff-Parkinson-White pattern9 tests
  • Wolfram syndrome 16 tests
  • Wolfram syndrome 22 tests
  • Wolfram-like syndrome6 tests
  • Woodhouse-Sakati syndrome2 tests
  • Woolly hair, autosomal recessive 31 test
  • Woolly hair-palmoplantar keratoderma syndrome2 tests
  • Worth disease9 tests
  • Wrinkly skin syndrome4 tests
  • X-linked agammaglobulinemia5 tests
  • X-linked agammaglobulinemia with growth hormone deficiency5 tests
  • X-linked Alport syndrome4 tests
  • X-linked central congenital hypothyroidism with late-onset testicular enlargement1 test
  • X-linked chondrodysplasia punctata 14 tests
  • X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome1 test
  • X-linked complicated corpus callosum dysgenesis6 tests
  • X-linked cone-rod dystrophy 17 tests
  • X-linked cone-rod dystrophy 34 tests
  • X-linked distal spinal muscular atrophy type 36 tests
  • X-linked dyserythropoetic anemia with abnormal platelets and neutropenia8 tests
  • X-linked dystonia-parkinsonism3 tests
  • X-linked Emery-Dreifuss muscular dystrophy6 tests
  • X-linked epilepsy-learning disabilities-behavior disorders syndrome1 test
  • X-linked erythropoietic protoporphyria4 tests
  • X-linked hydrocephalus syndrome6 tests
  • X-linked ichthyosis with steryl-sulfatase deficiency3 tests
  • X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia5 tests
  • X-linked intellectual disability Cabezas type3 tests
  • X-linked intellectual disability with marfanoid habitus7 tests
  • X-linked intellectual disability, Cantagrel type3 tests
  • X-linked intellectual disability, Stocco dos Santos type1 test
  • X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome1 test
  • X-linked intellectual disability-cerebellar hypoplasia syndrome3 tests
  • X-linked intellectual disability-psychosis-macroorchidism syndrome6 tests
  • X-linked lissencephaly with abnormal genitalia7 tests
  • X-linked lymphoproliferative disease due to SH2D1A deficiency6 tests
  • X-linked lymphoproliferative disease due to XIAP deficiency5 tests
  • X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency3 tests
  • X-linked mixed hearing loss with perilymphatic gusher9 tests
  • X-linked myopathy with excessive autophagy3 tests
  • X-linked myopathy with postural muscle atrophy8 tests
  • X-linked Opitz G/BBB syndrome4 tests
  • X-linked parkinsonism-spasticity syndrome3 tests
  • X-linked progressive cerebellar ataxia1 test
  • X-linked recessive nephrolithiasis with renal failure4 tests
  • X-linked reticulate pigmentary disorder1 test
  • X-linked scapuloperoneal muscular dystrophy8 tests
  • X-linked severe combined immunodeficiency3 tests
  • X-linked severe congenital neutropenia8 tests
  • X-linked sideroblastic anemia 14 tests
  • X-linked sideroblastic anemia with ataxia3 tests
  • Xanthinuria type II1 test
  • Xeroderma pigmentosum group A6 tests
  • Xeroderma pigmentosum group B9 tests
  • Xeroderma pigmentosum variant type2 tests
  • Xeroderma pigmentosum, group C3 tests
  • Xeroderma pigmentosum, group D8 tests
  • Xeroderma pigmentosum, group E2 tests
  • Xeroderma pigmentosum, group F5 tests
  • Xeroderma pigmentosum, group G4 tests
  • XFE progeroid syndrome5 tests
  • Y chromosome-related disorders1 test
  • Yao syndrome3 tests
  • Young adult-onset distal hereditary motor neuropathy4 tests
  • Yunis-Varon syndrome8 tests
  • Zimmermann-Laband syndrome 11 test
  • Zimmermann-Laband syndrome 21 test
  • ZTTK syndrome2 tests

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously, comments
  • Prenatal testing, comments
  • Custom Sequence Analysis, comments
  • Whole Exome Sequencing
  • Whole Genome Sequencing
  • Oncogenetics
  • Pharmaceutical Clinical trials
  • Pharmacogenomics

List of certifications/licenses

Certifications

  • CLIAHelp, Number: 99D1066287, Expiration date: 2022-09-30
  • ISO15189, Number: E0020, Expiration date: 2023-12-31
  • International Organization for Standardization 9001: 2015, ISO 9, Number: certificate PT005990-2, Expiration date: 2022-10-12

Participation in external programs

Standardization programs

  • ISCA Consortium (International Standards for Cytogenomic Arrays)
  • Locus-specific Databases
  • Mutation-specific Databases

Data exchange Programs

  • ICCG (International Collaboration for Clinical Genetics) - Previously ISCA
  • Mutation-specific Databases

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.