Invitae

Personnel

Director: Swaroop Aradhya, PhD, FACMG, Lab Director
Director: Robert Daber, PhD, Lab Director
Director: Kingshuk Das, MD, Lab Director
Director: Seyed Ali Hosseini, PhD, MD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Lab Director
Email: seyedali.hosseini@invitae.com

Conditions and tests

4863 conditions/phenotypes with 362 tests
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11p partial monosomy syndrome12 tests
2-aminoadipic 2-oxoadipic aciduria4 tests
2-hydroxyglutaric aciduria4 tests
22q partial monosomy2 tests
3 beta-Hydroxysteroid dehydrogenase deficiency1 test
3-hydroxy-3-methylglutaryl-CoA synthase deficiency6 tests
3-methylcrotonyl-CoA carboxylase 1 deficiency11 tests
3-methylcrotonyl-CoA carboxylase 2 deficiency9 tests
3-methylglutaconic aciduria type 18 tests
3-Methylglutaconic aciduria type 211 tests
3-Methylglutaconic aciduria type 310 tests
3-methylglutaconic aciduria type 57 tests
3-methylglutaconic aciduria type 88 tests
3-methylglutaconic aciduria type 99 tests
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia10 tests
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome9 tests
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency2 tests
3M syndrome 11 test
3M syndrome 21 test
3M syndrome 31 test
46,XX sex reversal 12 tests
46,XX sex reversal 41 test
46,xx sex reversal 51 test
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency1 test
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome1 test
46,XY sex reversal 13 tests
46,XY sex reversal 111 test
46,XY sex reversal 24 tests
46,XY sex reversal 31 test
46,XY sex reversal 51 test
46,XY sex reversal 61 test
46,XY sex reversal 71 test
46,XY sex reversal 92 tests
4p partial monosomy syndrome3 tests
5-Oxoprolinase deficiency2 tests
5p partial monosomy syndrome3 tests
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency8 tests
Aarskog syndrome1 test
Abacavir hypersensitivity1 test
ABCD syndrome3 tests
Abdominal obesity-metabolic syndrome 31 test
Abetalipoproteinaemia5 tests
Ablepharon macrostomia syndrome1 test
Abortive cerebellar ataxia6 tests
ABri amyloidosis1 test
Acetyl-CoA: carboxylase deficiency1 test
Acheiropodia1 test
Achondrogenesis type II5 tests
Achondrogenesis, type IA4 tests
Achondrogenesis, type IB4 tests
Achondroplasia3 tests
Achromatopsia2 tests
Achromatopsia 22 tests
Achromatopsia 33 tests
Achromatopsia 42 tests
Achromatopsia 72 tests
Acne inversa, familial, 12 tests
Acne inversa, familial, 22 tests
Acne inversa, familial, 31 test
Acquired hemoglobin H disease5 tests
Acquired polycythemia vera2 tests
Acrocallosal syndrome7 tests
Acrocapitofemoral dysplasia2 tests
Acrocephalosyndactyly type I3 tests
Acrodysostosis 1 with or without hormone resistance5 tests
Acrodysostosis 2 with or without hormone resistance4 tests
Acroerythrokeratoderma1 test
Acrofacial dysostosis Cincinnati type2 tests
Acrokeratosis verruciformis of Hopf1 test
Acromelic frontonasal dysostosis3 tests
Acromesomelic dysplasia 1, Maroteaux type3 tests
Acromesomelic dysplasia 2B2 tests
Acromesomelic dysplasia 2C, Hunter-Thompson type2 tests
Acromesomelic dysplasia 32 tests
Acromicric dysplasia5 tests
Acroosteolysis-keloid-like lesions-premature aging syndrome2 tests
ACTH-independent macronodular adrenal hyperplasia 16 tests
Actin accumulation myopathy3 tests
Action myoclonus-renal failure syndrome2 tests
Aculeiform cataract1 test
Acute febrile neutrophilic dermatosis7 tests
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins4 tests
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome1 test
Acute intermittent porphyria9 tests
Acute lymphoid leukemia9 tests
Acute myeloid leukemia25 tests
Acyl-CoA dehydrogenase 9 deficiency8 tests
Acyl-CoA oxidase deficiency8 tests
Adams-Oliver syndrome1 test
Adams-Oliver syndrome 13 tests
Adams-Oliver syndrome 24 tests
Adams-Oliver syndrome 33 tests
Adams-Oliver syndrome 45 tests
Adams-Oliver syndrome 57 tests
Adams-Oliver syndrome 63 tests
ADan amyloidosis1 test
Adenine phosphoribosyltransferase deficiency3 tests
Adenosine kinase deficiency7 tests
Adenylosuccinate lyase deficiency8 tests
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder5 tests
Adrenocortical carcinoma, hereditary8 tests
Adrenoleukodystrophy10 tests
Adult hypophosphatasia3 tests
Adult polyglucosan body disease4 tests
ADULT syndrome6 tests
Adult-onset foveomacular vitelliform dystrophy1 test
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency7 tests
Adult-onset proximal spinal muscular atrophy, autosomal dominant3 tests
Agammaglobulinemia 2, autosomal recessive3 tests
Agammaglobulinemia 3, autosomal recessive3 tests
Agammaglobulinemia 4, autosomal recessive3 tests
Agammaglobulinemia 5, autosomal dominant3 tests
Agammaglobulinemia 6, autosomal recessive3 tests
Agammaglobulinemia 7, autosomal recessive11 tests
Agammaglobulinemia 8, autosomal dominant3 tests
Age related macular degeneration 11 test
Age related macular degeneration 111 test
Age related macular degeneration 135 tests
Age related macular degeneration 144 tests
Age related macular degeneration 153 tests
Age related macular degeneration 22 tests
Age related macular degeneration 45 tests
Age related macular degeneration 53 tests
Age related macular degeneration 62 tests
Age related macular degeneration 72 tests
Age related macular degeneration 94 tests
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome3 tests
Agenesis of the corpus callosum with peripheral neuropathy5 tests
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome4 tests
AICA-ribosiduria1 test
Aicardi Goutieres syndrome2 tests
Aicardi-Goutieres syndrome 111 tests
Aicardi-Goutieres syndrome 28 tests
Aicardi-Goutieres syndrome 38 tests
Aicardi-Goutieres syndrome 48 tests
Aicardi-Goutieres syndrome 58 tests
Aicardi-Goutieres syndrome 68 tests
Aicardi-Goutieres syndrome 78 tests
Al-Gazali syndrome5 tests
Alacrima, achalasia, and intellectual disability syndrome2 tests
Alagille syndrome due to a JAG1 point mutation9 tests
Alagille syndrome due to a NOTCH2 point mutation11 tests
Alazami-Yuan syndrome1 test
Alcohol dependence5 tests
ALDH18A1-related de Barsy syndrome9 tests
Aldosterone-producing adenoma with seizures and neurological abnormalities5 tests
Alexander disease4 tests
ALG1-congenital disorder of glycosylation5 tests
ALG11-congenital disorder of glycosylation2 tests
ALG12-congenital disorder of glycosylation5 tests
ALG2-congenital disorder of glycosylation3 tests
ALG3-congenital disorder of glycosylation4 tests
ALG6-congenital disorder of glycosylation 1C8 tests
ALG8 congenital disorder of glycosylation6 tests
ALG9 congenital disorder of glycosylation5 tests
Alkaline ceramidase 3 deficiency1 test
Alkaptonuria3 tests
Allan-Herndon-Dudley syndrome3 tests
Alopecia universalis congenita1 test
Alopecia-intellectual disability syndrome 41 test
alpha Thalassemia6 tests
Alpha thalassemia-X-linked intellectual disability syndrome8 tests
Alpha-1-antitrypsin deficiency5 tests
Alpha-methylacyl-CoA racemase deficiency9 tests
Alpha-N-acetylgalactosaminidase deficiency type 13 tests
Alpha-N-acetylgalactosaminidase deficiency type 23 tests
Alpha-thalassemia/intellectual disability syndrome2 tests
Alport syndrome2 tests
Alstrom syndrome10 tests
Alternating hemiplegia of childhood 13 tests
Alternating hemiplegia of childhood 27 tests
Alveolar capillary dysplasia with pulmonary venous misalignment1 test
Alveolar rhabdomyosarcoma2 tests
Alzheimer disease5 tests
Alzheimer disease 32 tests
Alzheimer disease 42 tests
Amelocerebrohypohidrotic syndrome1 test
Amelogenesis imperfecta type 1A1 test
Amelogenesis imperfecta type 1G2 tests
Aminoacylase 1 deficiency1 test
Aminoglycoside-induced deafness2 tests
Amish lethal microcephaly7 tests
Amitriptyline response1 test
Amyloidogenic transthyretin amyloidosis6 tests
Amyotrophic lateral sclerosis1 test
Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia2 tests
Amyotrophic lateral sclerosis type 18 tests
Amyotrophic lateral sclerosis type 103 tests
Amyotrophic lateral sclerosis type 117 tests
Amyotrophic lateral sclerosis type 123 tests
Amyotrophic lateral sclerosis type 154 tests
Amyotrophic lateral sclerosis type 162 tests
Amyotrophic lateral sclerosis type 182 tests
Amyotrophic lateral sclerosis type 192 tests
Amyotrophic lateral sclerosis type 2, juvenile4 tests
Amyotrophic lateral sclerosis type 212 tests
Amyotrophic lateral sclerosis type 232 tests
Amyotrophic lateral sclerosis type 43 tests
Amyotrophic lateral sclerosis type 58 tests
Amyotrophic lateral sclerosis type 63 tests
Amyotrophic lateral sclerosis type 84 tests
Amyotrophic lateral sclerosis type 92 tests
Amyotrophic lateral sclerosis, susceptibility to, 242 tests
Amyotrophic lateral sclerosis, susceptibility to, 257 tests
Analbuminemia1 test
Anauxetic dysplasia 18 tests
Anauxetic dysplasia 22 tests
Andersen Tawil syndrome7 tests
Androgen resistance syndrome2 tests
Anemia, nonspherocytic hemolytic, due to G6PD deficiency14 tests
Aneurysm-osteoarthritis syndrome3 tests
Angelman syndrome5 tests
Angelman syndrome-like1 test
Aniridia 112 tests
Aniridia 21 test
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome6 tests
Annular epidermolytic ichthyosis2 tests
Anomaly of sex chromosome2 tests
Anophthalmia-microphthalmia syndrome1 test
Anophthalmia/microphthalmia-esophageal atresia syndrome8 tests
Anorexia nervosa, susceptibility to, 12 tests
Anterior segment dysgenesis 11 test
Anterior segment dysgenesis 36 tests
Anterior segment dysgenesis 44 tests
Anterior segment dysgenesis 62 tests
Anterior segment dysgenesis 73 tests
Anterior segment dysgenesis 81 test
Antley-Bixler syndrome1 test
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis3 tests
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis4 tests
Aortic aneurysm, familial thoracic 102 tests
Aortic aneurysm, familial thoracic 11, susceptibility to3 tests
Aortic aneurysm, familial thoracic 43 tests
Aortic aneurysm, familial thoracic 64 tests
Aortic aneurysm, familial thoracic 72 tests
Aortic aneurysm, familial thoracic 82 tests
Aortic aneurysm, familial thoracic 92 tests
Aortic valve disease 17 tests
Aortic valve disease 22 tests
Aplastic anemia17 tests
Apparent mineralocorticoid excess3 tests
Arginase deficiency14 tests
Arginine:glycine amidinotransferase deficiency13 tests
Argininosuccinate lyase deficiency11 tests
Ariboflavinosis6 tests
Aripiprazole response1 test
Aromatase deficiency4 tests
Aromatase excess syndrome2 tests
Arrhinia with choanal atresia and microphthalmia syndrome4 tests
Arrhythmogenic cardiomyopathy with woolly hair and keratoderma7 tests
Arrhythmogenic right ventricular dysplasia 13 tests
Arrhythmogenic right ventricular dysplasia 105 tests
Arrhythmogenic right ventricular dysplasia 116 tests
Arrhythmogenic right ventricular dysplasia 127 tests
Arrhythmogenic right ventricular dysplasia 27 tests
Arrhythmogenic right ventricular dysplasia 56 tests
Arrhythmogenic right ventricular dysplasia 88 tests
Arrhythmogenic right ventricular dysplasia 96 tests
Arrhythmogenic right ventricular dysplasia, familial, 143 tests
Arterial calcification, generalized, of infancy, 13 tests
Arterial calcification, generalized, of infancy, 22 tests
Arterial tortuosity syndrome2 tests
Arteriohepatic dysplasia2 tests
Arthrogryposis multiplex congenita 3, myogenic type1 test
Arthrogryposis multiplex congenita 53 tests
Arthrogryposis multiplex congenita 62 tests
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development4 tests
Arthrogryposis, distal, type 1A3 tests
Arthrogryposis, distal, type 2B33 tests
Arthrogryposis, distal, with impaired proprioception and touch1 test
Arthrogryposis, renal dysfunction, and cholestasis 15 tests
Arthrogryposis, renal dysfunction, and cholestasis 24 tests
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome1 test
Arts syndrome9 tests
Aryl hydrocarbon hydroxylase inducibility1 test
Aspartylglucosaminuria9 tests
Asphyxiating thoracic dystrophy 24 tests
Asphyxiating thoracic dystrophy 31 test
Asphyxiating thoracic dystrophy 48 tests
Asphyxiating thoracic dystrophy 57 tests
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome2 tests
Ataxia - oculomotor apraxia type 43 tests
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia4 tests
Ataxia-hypogonadism-choroidal dystrophy syndrome3 tests
Ataxia-pancytopenia syndrome6 tests
Ataxia-telangiectasia syndrome17 tests
Ataxia-telangiectasia-like disorder 12 tests
Ateleiotic dwarfism1 test
Atelosteogenesis type I2 tests
Atelosteogenesis type II5 tests
Atelosteogenesis type III2 tests
Atomoxetine response1 test
Atorvastatin response1 test
Atransferrinemia1 test
Atrial conduction disease3 tests
Atrial fibrillation, familial, 105 tests
Atrial fibrillation, familial, 112 tests
Atrial fibrillation, familial, 125 tests
Atrial fibrillation, familial, 132 tests
Atrial fibrillation, familial, 182 tests
Atrial fibrillation, familial, 33 tests
Atrial fibrillation, familial, 96 tests
Atrial septal defect1 test
Atrial septal defect 25 tests
Atrial septal defect 31 test
Atrial septal defect 44 tests
Atrial septal defect 56 tests
Atrial septal defect 74 tests
Atrial septal defect 92 tests
Atrial standstill 12 tests
Atrichia with papular lesions1 test
Atrioventricular septal defect1 test
Atrioventricular septal defect 311 tests
Atrioventricular septal defect 45 tests
Atrioventricular septal defect 52 tests
Atrioventricular septal defect, susceptibility to, 21 test
Atrophia bulborum hereditaria3 tests
Attention deficit hyperactivity disorder2 tests
Attenuated familial adenomatous polyposis7 tests
Atypical Gaucher disease due to saposin C deficiency5 tests
Atypical glycine encephalopathy6 tests
Atypical hemolytic-uremic syndrome with B factor anomaly4 tests
Atypical hemolytic-uremic syndrome with C3 anomaly4 tests
Atypical hemolytic-uremic syndrome with I factor anomaly5 tests
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly4 tests
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly5 tests
Auriculocondylar syndrome 12 tests
Auriculocondylar syndrome 21 test
Auriculocondylar syndrome 31 test
Autism spectrum disorder2 tests
Autism spectrum disorder - epilepsy - arthrogryposis syndrome4 tests
Autism spectrum disorder due to AUTS2 deficiency2 tests
Autism, susceptibility to, 154 tests
Autism, susceptibility to, 183 tests
Autism, susceptibility to, X-linked 35 tests
Autoimmune disease, multisystem, infantile-onset, 26 tests
Autoimmune disease, susceptibility to, 63 tests
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome6 tests
Autoimmune interstitial lung disease-arthritis syndrome7 tests
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency8 tests
Autoimmune lymphoproliferative syndrome type 15 tests
Autoimmune lymphoproliferative syndrome type 2A4 tests
Autoimmune lymphoproliferative syndrome type 2B5 tests
Autoimmune lymphoproliferative syndrome type 46 tests
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD6 tests
Autoinflammation with arthritis and dyskeratosis4 tests
Autoinflammation with episodic fever and lymphadenopathy5 tests
Autoinflammation, immune dysregulation, and eosinophilia5 tests
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation6 tests
Autoinflammatory syndrome, familial, Behcet-like3 tests
Autosomal chromosomal disorder2 tests
Autosomal dominant Alport syndrome4 tests
Autosomal dominant aplasia and myelodysplasia5 tests
Autosomal dominant auditory neuropathy 11 test
Autosomal dominant centronuclear myopathy7 tests
Autosomal dominant cerebellar ataxia, deafness and narcolepsy3 tests
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures4 tests
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures5 tests
Autosomal dominant complex spastic paraplegia type 9B1 test
Autosomal dominant congenital benign spinal muscular atrophy5 tests
Autosomal dominant distal renal tubular acidosis5 tests
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome13 tests
Autosomal dominant hypocalcemia 17 tests
Autosomal dominant hypocalcemia 22 tests
Autosomal dominant hypophosphatemic rickets3 tests
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome5 tests
Autosomal dominant isolated somatotropin deficiency1 test
Autosomal dominant Kenny-Caffey syndrome4 tests
Autosomal dominant keratitis6 tests
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome3 tests
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)5 tests
Autosomal dominant limb-girdle muscular dystrophy type 1F4 tests
Autosomal dominant limb-girdle muscular dystrophy type 1G3 tests
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency2 tests
Autosomal dominant mitochondrial myopathy with exercise intolerance6 tests
Autosomal dominant nocturnal frontal lobe epilepsy 11 test
Autosomal dominant nocturnal frontal lobe epilepsy 31 test
Autosomal dominant nocturnal frontal lobe epilepsy 41 test
Autosomal dominant nocturnal frontal lobe epilepsy 55 tests
Autosomal dominant nonsyndromic hearing loss 16 tests
Autosomal dominant nonsyndromic hearing loss 104 tests
Autosomal dominant nonsyndromic hearing loss 113 tests
Autosomal dominant nonsyndromic hearing loss 121 test
Autosomal dominant nonsyndromic hearing loss 135 tests
Autosomal dominant nonsyndromic hearing loss 151 test
Autosomal dominant nonsyndromic hearing loss 175 tests
Autosomal dominant nonsyndromic hearing loss 204 tests
Autosomal dominant nonsyndromic hearing loss 221 test
Autosomal dominant nonsyndromic hearing loss 233 tests
Autosomal dominant nonsyndromic hearing loss 251 test
Autosomal dominant nonsyndromic hearing loss 283 tests
Autosomal dominant nonsyndromic hearing loss 2A1 test
Autosomal dominant nonsyndromic hearing loss 2B2 tests
Autosomal dominant nonsyndromic hearing loss 361 test
Autosomal dominant nonsyndromic hearing loss 3A3 tests
Autosomal dominant nonsyndromic hearing loss 3B4 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 4A1 test
Autosomal dominant nonsyndromic hearing loss 4B1 test
Autosomal dominant nonsyndromic hearing loss 501 test
Autosomal dominant nonsyndromic hearing loss 65 tests
Autosomal dominant nonsyndromic hearing loss 641 test
Autosomal dominant nonsyndromic hearing loss 654 tests
Autosomal dominant nonsyndromic hearing loss 661 test
Autosomal dominant nonsyndromic hearing loss 671 test
Autosomal dominant nonsyndromic hearing loss 681 test
Autosomal dominant nonsyndromic hearing loss 692 tests
Autosomal dominant nonsyndromic hearing loss 701 test
Autosomal dominant nonsyndromic hearing loss 91 test
Autosomal dominant omodysplasia2 tests
Autosomal dominant Opitz G/BBB syndrome1 test
Autosomal dominant optic atrophy classic form6 tests
Autosomal dominant osteopetrosis 15 tests
Autosomal dominant osteopetrosis 27 tests
Autosomal dominant palmoplantar keratoderma and congenital alopecia10 tests
Autosomal dominant Parkinson disease 12 tests
Autosomal dominant Parkinson disease 42 tests
Autosomal dominant Parkinson disease 81 test
Autosomal dominant popliteal pterygium syndrome1 test
Autosomal dominant pseudohypoaldosteronism type 11 test
Autosomal dominant Robinow syndrome 12 tests
Autosomal dominant Robinow syndrome 22 tests
Autosomal dominant Robinow syndrome 32 tests
Autosomal dominant striatal neurodegeneration type 11 test
Autosomal dominant vitreoretinochoroidopathy2 tests
Autosomal dominant woolly hair1 test
Autosomal recessive Alport syndrome4 tests
Autosomal recessive amelia1 test
Autosomal recessive ataxia due to ubiquinone deficiency7 tests
Autosomal recessive ataxia, Beauce type1 test
Autosomal recessive axonal neuropathy with neuromyotonia3 tests
Autosomal recessive bestrophinopathy2 tests
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome3 tests
Autosomal recessive complex spastic paraplegia type 9B8 tests
Autosomal recessive congenital ichthyosis 13 tests
Autosomal recessive congenital ichthyosis 101 test
Autosomal recessive congenital ichthyosis 111 test
Autosomal recessive congenital ichthyosis 21 test
Autosomal recessive congenital ichthyosis 31 test
Autosomal recessive congenital ichthyosis 4A1 test
Autosomal recessive congenital ichthyosis 4B1 test
Autosomal recessive congenital ichthyosis 51 test
Autosomal recessive congenital ichthyosis 61 test
Autosomal recessive congenital ichthyosis 81 test
Autosomal recessive congenital ichthyosis 91 test
Autosomal recessive cutis laxa type 2B2 tests
Autosomal recessive cutis laxa type 2C3 tests
Autosomal recessive cutis laxa type 2D2 tests
Autosomal recessive distal renal tubular acidosis2 tests
Autosomal recessive distal spinal muscular atrophy 13 tests
Autosomal recessive distal spinal muscular atrophy 22 tests
Autosomal recessive DOPA responsive dystonia10 tests
Autosomal recessive early-onset Parkinson disease 231 test
Autosomal recessive early-onset Parkinson disease 62 tests
Autosomal recessive early-onset Parkinson disease 71 test
Autosomal recessive hypophosphatemic bone disease4 tests
Autosomal recessive juvenile Parkinson disease 22 tests
Autosomal recessive Kenny-Caffey syndrome3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2A6 tests
Autosomal recessive limb-girdle muscular dystrophy type 2B7 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 2E4 tests
Autosomal recessive limb-girdle muscular dystrophy type 2F7 tests
Autosomal recessive limb-girdle muscular dystrophy type 2G9 tests
Autosomal recessive limb-girdle muscular dystrophy type 2I12 tests
Autosomal recessive limb-girdle muscular dystrophy type 2J10 tests
Autosomal recessive limb-girdle muscular dystrophy type 2K9 tests
Autosomal recessive limb-girdle muscular dystrophy type 2L7 tests
Autosomal recessive limb-girdle muscular dystrophy type 2M12 tests
Autosomal recessive limb-girdle muscular dystrophy type 2N9 tests
Autosomal recessive limb-girdle muscular dystrophy type 2O10 tests
Autosomal recessive limb-girdle muscular dystrophy type 2P7 tests
Autosomal recessive limb-girdle muscular dystrophy type 2Q4 tests
Autosomal recessive limb-girdle muscular dystrophy type 2R15 tests
Autosomal recessive limb-girdle muscular dystrophy type 2T4 tests
Autosomal recessive limb-girdle muscular dystrophy type 2Y3 tests
Autosomal recessive limb-girdle muscular dystrophy type R187 tests
Autosomal recessive lower motor neuron disease with childhood onset3 tests
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency2 tests
Autosomal recessive nonsyndromic hearing loss 1011 test
Autosomal recessive nonsyndromic hearing loss 1021 test
Autosomal recessive nonsyndromic hearing loss 1031 test
Autosomal recessive nonsyndromic hearing loss 123 tests
Autosomal recessive nonsyndromic hearing loss 151 test
Autosomal recessive nonsyndromic hearing loss 18A3 tests
Autosomal recessive nonsyndromic hearing loss 18B1 test
Autosomal recessive nonsyndromic hearing loss 1A4 tests
Autosomal recessive nonsyndromic hearing loss 1B4 tests
Autosomal recessive nonsyndromic hearing loss 23 tests
Autosomal recessive nonsyndromic hearing loss 211 test
Autosomal recessive nonsyndromic hearing loss 221 test
Autosomal recessive nonsyndromic hearing loss 233 tests
Autosomal recessive nonsyndromic hearing loss 241 test
Autosomal recessive nonsyndromic hearing loss 281 test
Autosomal recessive nonsyndromic hearing loss 291 test
Autosomal recessive nonsyndromic hearing loss 31 test
Autosomal recessive nonsyndromic hearing loss 301 test
Autosomal recessive nonsyndromic hearing loss 313 tests
Autosomal recessive nonsyndromic hearing loss 321 test
Autosomal recessive nonsyndromic hearing loss 351 test
Autosomal recessive nonsyndromic hearing loss 361 test
Autosomal recessive nonsyndromic hearing loss 371 test
Autosomal recessive nonsyndromic hearing loss 391 test
Autosomal recessive nonsyndromic hearing loss 48 tests
Autosomal recessive nonsyndromic hearing loss 421 test
Autosomal recessive nonsyndromic hearing loss 441 test
Autosomal recessive nonsyndromic hearing loss 483 tests
Autosomal recessive nonsyndromic hearing loss 491 test
Autosomal recessive nonsyndromic hearing loss 535 tests
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 666 tests
Autosomal recessive nonsyndromic hearing loss 671 test
Autosomal recessive nonsyndromic hearing loss 681 test
Autosomal recessive nonsyndromic hearing loss 71 test
Autosomal recessive nonsyndromic hearing loss 704 tests
Autosomal recessive nonsyndromic hearing loss 741 test
Autosomal recessive nonsyndromic hearing loss 761 test
Autosomal recessive nonsyndromic hearing loss 774 tests
Autosomal recessive nonsyndromic hearing loss 81 test
Autosomal recessive nonsyndromic hearing loss 84B1 test
Autosomal recessive nonsyndromic hearing loss 864 tests
Autosomal recessive nonsyndromic hearing loss 881 test
Autosomal recessive nonsyndromic hearing loss 91 test
Autosomal recessive nonsyndromic hearing loss 911 test
Autosomal recessive nonsyndromic hearing loss 931 test
Autosomal recessive nonsyndromic hearing loss 971 test
Autosomal recessive nonsyndromic hearing loss 982 tests
Autosomal recessive omodysplasia1 test
Autosomal recessive optic atrophy, OPA7 type3 tests
Autosomal recessive osteopetrosis 16 tests
Autosomal recessive osteopetrosis 24 tests
Autosomal recessive osteopetrosis 47 tests
Autosomal recessive osteopetrosis 54 tests
Autosomal recessive osteopetrosis 75 tests
Autosomal recessive osteopetrosis 84 tests
Autosomal recessive Parkinson disease 149 tests
Autosomal recessive polycystic kidney disease2 tests
Autosomal recessive proximal renal tubular acidosis3 tests
Autosomal recessive pseudohypoaldosteronism type 11 test
Autosomal recessive Robinow syndrome2 tests
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency4 tests
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency10 tests
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency6 tests
Autosomal recessive spastic paraplegia type 762 tests
Autosomal recessive spastic paraplegia type 7810 tests
Autosomal recessive spinocerebellar ataxia 124 tests
Autosomal recessive spinocerebellar ataxia 131 test
Autosomal recessive spinocerebellar ataxia 141 test
Autosomal recessive spinocerebellar ataxia 161 test
Autosomal recessive spinocerebellar ataxia 181 test
Autosomal recessive spinocerebellar ataxia 21 test
Autosomal recessive spinocerebellar ataxia 201 test
Autosomal recessive spinocerebellar ataxia 73 tests
Autosomal recessive spondylometaphyseal dysplasia, Megarbane type1 test
Autosomal systemic lupus erythematosus type 163 tests
Avascular necrosis of femoral head, primary, 15 tests
Avascular necrosis of femoral head, primary, 25 tests
Avellino corneal dystrophy1 test
Axenfeld-Rieger syndrome type 14 tests
Axenfeld-Rieger syndrome type 37 tests
Axial spondylometaphyseal dysplasia2 tests
Ayme-Gripp syndrome3 tests
B4GALT1-congenital disorder of glycosylation3 tests
Bailey-Bloch congenital myopathy5 tests
Baller-Gerold syndrome5 tests
Band heterotopia of brain1 test
Bannayan-Riley-Ruvalcaba syndrome12 tests
BAP1-related tumor predisposition syndrome6 tests
Baraitser-Winter syndrome 111 tests
Baraitser-winter syndrome 25 tests
Barber-Say syndrome1 test
Bardet-Biedl syndrome5 tests
Bardet-Biedl syndrome 17 tests
Bardet-Biedl syndrome 107 tests
Bardet-Biedl syndrome 1111 tests
Bardet-Biedl syndrome 127 tests
Bardet-Biedl syndrome 139 tests
Bardet-Biedl syndrome 1412 tests
Bardet-Biedl syndrome 157 tests
Bardet-Biedl syndrome 169 tests
Bardet-Biedl syndrome 174 tests
Bardet-Biedl syndrome 184 tests
Bardet-Biedl syndrome 194 tests
Bardet-Biedl syndrome 27 tests
Bardet-biedl syndrome 213 tests
Bardet-Biedl syndrome 223 tests
Bardet-Biedl syndrome 37 tests
Bardet-Biedl syndrome 47 tests
Bardet-Biedl syndrome 57 tests
Bardet-Biedl syndrome 64 tests
Bardet-Biedl syndrome 77 tests
Bardet-Biedl syndrome 87 tests
Bardet-Biedl syndrome 97 tests
Barrett esophagus2 tests
BARTSOCAS-PAPAS SYNDROME 21 test
Bartter disease type 15 tests
Bartter disease type 23 tests
Bartter disease type 35 tests
Bartter disease type 4a5 tests
Bartter disease type 4B5 tests
Bartter disease type 52 tests
Basal cell carcinoma, susceptibility to, 110 tests
Basal cell carcinoma, susceptibility to, 78 tests
Basal ganglia calcification, idiopathic, 42 tests
Basal ganglia calcification, idiopathic, 62 tests
Basal laminar drusen5 tests
Beaded hair1 test
Beare-Stevenson cutis gyrata syndrome3 tests
Becker muscular dystrophy10 tests
Beckwith-Wiedemann syndrome14 tests
Benign concentric annular macular dystrophy1 test
Benign familial hematuria4 tests
Benign hereditary chorea3 tests
Benign recurrent intrahepatic cholestasis type 11 test
Benign recurrent intrahepatic cholestasis type 21 test
Benign scapuloperoneal muscular dystrophy with cardiomyopathy15 tests
BENTA disease5 tests
Bernard Soulier syndrome2 tests
Bernard-Soulier syndrome, type A2, autosomal dominant4 tests
beta Thalassemia5 tests
Beta-D-mannosidosis5 tests
Beta-hydroxyisobutyryl-CoA deacylase deficiency6 tests
Beta-thalassemia-X-linked thrombocytopenia syndrome9 tests
Bethlem myopathy 17 tests
Bethlem myopathy 27 tests
Bietti crystalline corneoretinal dystrophy3 tests
Bifunctional peroxisomal enzyme deficiency8 tests
Bilateral frontoparietal polymicrogyria2 tests
Bilateral parasagittal parieto-occipital polymicrogyria7 tests
Bile acid conjugation defect 11 test
Bile acid malabsorption, primary3 tests
Bilirubin, serum level of, quantitative trait locus 13 tests
Biotin-responsive basal ganglia disease7 tests
Biotinidase deficiency14 tests
Blau syndrome5 tests
Bleeding diathesis due to thromboxane synthesis deficiency2 tests
Bleeding disorder, platelet-type, 212 tests
Blepharocheilodontic syndrome 12 tests
Blepharophimosis - intellectual disability syndrome, MKB type7 tests
Blepharophimosis - intellectual disability syndrome, SBBYS type5 tests
Blepharophimosis, ptosis, and epicanthus inversus syndrome1 test
BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME1 test
Blood group, Gerbich system2 tests
Blood group, Junior system1 test
BLOOD GROUP--DIEGO SYSTEM5 tests
BLOOD GROUP--FROESE5 tests
BLOOD GROUP--LUTHERAN INHIBITOR3 tests
BLOOD GROUP--SWANN SYSTEM5 tests
BLOOD GROUP--WALDNER TYPE5 tests
BLOOD GROUP--WRIGHT ANTIGEN5 tests
Bloom syndrome14 tests
Blue color blindness1 test
BNAR syndrome3 tests
Body mass index quantitative trait locus 141 test
Body mass index quantitative trait locus 181 test
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 191 test
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 201 test
Body mass index quantitative trait locus 41 test
Body mass index quantitative trait locus 91 test
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency1 test
Bohring-Opitz syndrome3 tests
Bone fragility with contractures, arterial rupture, and deafness1 test
Bone marrow failure syndrome 35 tests
Bone marrow failure syndrome 46 tests
Bone marrow failure syndrome 57 tests
Bone mineral density quantitative trait locus 15 tests
Bone mineral density quantitative trait locus 182 tests
Bone osteosarcoma10 tests
Boomerang dysplasia2 tests
Borjeson-Forssman-Lehmann syndrome5 tests
Bosch-Boonstra-Schaaf optic atrophy syndrome3 tests
Bothnia retinal dystrophy3 tests
Brachydactyly type A11 test
Brachydactyly type A1A1 test
Brachydactyly type A1C2 tests
Brachydactyly type A1D2 tests
Brachydactyly type A22 tests
Brachydactyly type B12 tests
Brachydactyly type B24 tests
Brachydactyly type C2 tests
Brachydactyly type D1 test
Brachydactyly type E11 test
Brachydactyly type E22 tests
Brachydactyly-arterial hypertension syndrome1 test
Brachydactyly-elbow wrist dysplasia syndrome1 test
Brachydactyly-syndactyly syndrome1 test
Brachyolmia-amelogenesis imperfecta syndrome4 tests
Brachyrachia (short spine dysplasia)5 tests
Bradyopsia2 tests
Brain abnormalities, neurodegeneration, and dysosteosclerosis3 tests
Brain small vessel disease 1 with or without ocular anomalies13 tests
Brain small vessel disease 31 test
Brain-lung-thyroid syndrome3 tests
Branched-chain keto acid dehydrogenase kinase deficiency2 tests
Branchiooculofacial syndrome2 tests
Branchiootic syndrome 13 tests
Branchiootic syndrome 33 tests
Branchiootorenal syndrome 13 tests
Breast and/or ovarian cancer2 tests
Breast cancer, early-onset8 tests
Breast cancer, familial male3 tests
Breast cancer, susceptibility to10 tests
Breast lobular carcinoma8 tests
Breast neoplasm13 tests
Breast-ovarian cancer, familial, susceptibility to, 115 tests
Breast-ovarian cancer, familial, susceptibility to, 218 tests
Breast-ovarian cancer, familial, susceptibility to, 37 tests
Breast-ovarian cancer, familial, susceptibility to, 44 tests
Brittle cornea syndrome 13 tests
Brittle cornea syndrome 21 test
Brody myopathy3 tests
Bronchiectasis with or without elevated sweat chloride 16 tests
Bronchiectasis with or without elevated sweat chloride 21 test
Bronchiectasis with or without elevated sweat chloride 31 test
Brown-Vialetto-van Laere syndrome 19 tests
Brown-Vialetto-van Laere syndrome 29 tests
Bruck syndrome 12 tests
Bruck syndrome 22 tests
Brugada syndrome1 test
Brugada syndrome 16 tests
Brugada syndrome 21 test
Brugada syndrome 37 tests
Brugada syndrome 41 test
Brugada syndrome 52 tests
Brugada syndrome 86 tests
Brunner syndrome4 tests
Budd-Chiari syndrome4 tests
Bullous ichthyosiform erythroderma2 tests
C1 inhibitor deficiency4 tests
C1Q deficiency3 tests
Café-au-lait macules with pulmonary stenosis11 tests
Calvarial doughnut lesions-bone fragility syndrome2 tests
Camptodactyly-tall stature-scoliosis-hearing loss syndrome3 tests
Camptomelic dysplasia4 tests
Camptosynpolydactyly, complex1 test
Cancer of cervix3 tests
Candidiasis, familial, 62 tests
Candidiasis, familial, 82 tests
Candidiasis, familial, 92 tests
Capillary infantile hemangioma1 test
Capillary malformation-arteriovenous malformation 15 tests
Capillary malformation-arteriovenous malformation 21 test
CARASIL syndrome2 tests
Carcinoid tumor of intestine5 tests
Carcinoma of colon12 tests
Carcinoma of pancreas24 tests
Cardiac anomalies - developmental delay - facial dysmorphism syndrome3 tests
Cardiac arrhythmia6 tests
Cardiac arrhythmia, ankyrin-B-related1 test
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies2 tests
Cardiac valvular defect, developmental1 test
Cardiac valvular dysplasia, X-linked9 tests
Cardio-facio-cutaneous syndrome1 test
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 16 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 24 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 31 test
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 41 test
Cardiofaciocutaneous syndrome 16 tests
Cardiofaciocutaneous syndrome 28 tests
Cardiofaciocutaneous syndrome 38 tests
Cardiofaciocutaneous syndrome 47 tests
Cardiomyopathy2 tests
Cardiomyopathy, dilated, 2c3 tests
Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis7 tests
Cardiomyopathy, familial hypertrophic 274 tests
Cardiomyopathy, familial restrictive, 16 tests
Cardiomyopathy, familial restrictive, 36 tests
Cardiomyopathy-hypotonia-lactic acidosis syndrome3 tests
Cardiospondylocarpofacial syndrome1 test
Carney complex5 tests
Carney complex, type 110 tests
Carney-Stratakis syndrome11 tests
Carnitine acylcarnitine translocase deficiency7 tests
Carnitine palmitoyl transferase 1A deficiency10 tests
Carnitine palmitoyl transferase II deficiency, myopathic form13 tests
Carnitine palmitoyl transferase II deficiency, neonatal form13 tests
Carnitine palmitoyl transferase II deficiency, severe infantile form13 tests
Carnitine palmitoyltransferase II deficiency3 tests
Carotid intimal medial thickness 12 tests
Carpal tunnel syndrome 21 test
Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders2 tests
Carvedilol response1 test
Cataract1 test
Cataract 1 multiple types2 tests
Cataract 10 multiple types1 test
Cataract 11 multiple types2 tests
Cataract 12 multiple types1 test
Cataract 13 with adult I phenotype1 test
Cataract 15 multiple types1 test
Cataract 16 multiple types6 tests
Cataract 17 multiple types1 test
Cataract 181 test
Cataract 20 multiple types1 test
Cataract 21 multiple types3 tests
Cataract 22 multiple types1 test
Cataract 231 test
Cataract 331 test
Cataract 34 multiple types3 tests
Cataract 385 tests
Cataract 402 tests
Cataract 415 tests
Cataract 441 test
Cataract 5 multiple types1 test
Cataract 9 multiple types2 tests
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome3 tests
CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY3 tests
Catecholaminergic polymorphic ventricular tachycardia1 test
Catecholaminergic polymorphic ventricular tachycardia 16 tests
Catecholaminergic polymorphic ventricular tachycardia 23 tests
Catecholaminergic polymorphic ventricular tachycardia 43 tests
Catecholaminergic polymorphic ventricular tachycardia 53 tests
Catel-Manzke syndrome3 tests
CBL-related disorder9 tests
CCDC115-CDG4 tests
CDC73-Related Disorders3 tests
CEDNIK syndrome3 tests
Celecoxib response1 test
Celiac disease, susceptibility to, 38 tests
Cenani-Lenz syndactyly syndrome4 tests
Centra precocious puberty 11 test
Central core myopathy6 tests
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 11 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 syndrome1 test
Cerebellar atrophy with seizures and variable developmental delay1 test
Cerebellar atrophy, developmental delay, and seizures5 tests
Cerebellar atrophy, visual impairment, and psychomotor retardation;3 tests
Cerebral amyloid angiopathy, APP-related3 tests
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11 test
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 22 tests
Cerebral arteriovenous malformation6 tests
Cerebral cavernous malformation2 tests
Cerebral cavernous malformation 11 test
Cerebral cavernous malformation 22 tests
Cerebral cavernous malformation 32 tests
Cerebral creatine deficiency syndrome1 test
Cerebral folate transport deficiency7 tests
Cerebral palsy, spastic quadriplegic, 22 tests
Cerebral palsy, spastic quadriplegic, 31 test
Cerebro-costo-mandibular syndrome2 tests
Cerebrooculofacioskeletal syndrome 13 tests
Cerebrooculofacioskeletal syndrome 25 tests
Cerebrooculofacioskeletal syndrome 31 test
Cerebrooculofacioskeletal syndrome 41 test
Cerebroretinal microangiopathy with calcifications and cysts 18 tests
Cerebroretinal microangiopathy with calcifications and cysts 27 tests
Cernunnos-XLF deficiency3 tests
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)1 test
Ceroid lipofuscinosis, neuronal, 6A8 tests
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)8 tests
CFHR5 deficiency1 test
Channelopathy-associated congenital insensitivity to pain, autosomal recessive3 tests
Char syndrome2 tests
Charcot-Marie-Tooth disease2 tests
Charcot-Marie-Tooth disease axonal type 2C5 tests
Charcot-Marie-Tooth disease axonal type 2CC2 tests
Charcot-Marie-Tooth disease axonal type 2F3 tests
Charcot-Marie-Tooth disease axonal type 2K4 tests
Charcot-Marie-Tooth disease axonal type 2L3 tests
Charcot-Marie-Tooth disease axonal type 2O5 tests
Charcot-Marie-Tooth disease axonal type 2P2 tests
Charcot-Marie-Tooth disease axonal type 2Q4 tests
Charcot-Marie-Tooth disease axonal type 2S3 tests
Charcot-Marie-Tooth disease axonal type 2T2 tests
Charcot-Marie-Tooth disease axonal type 2V12 tests
Charcot-Marie-Tooth disease axonal type 2X7 tests
Charcot-Marie-Tooth disease axonal type 2Z4 tests
Charcot-Marie-Tooth disease dominant intermediate B7 tests
Charcot-Marie-Tooth disease dominant intermediate D4 tests
Charcot-Marie-Tooth disease dominant intermediate E5 tests
Charcot-Marie-Tooth disease dominant intermediate F2 tests
Charcot-Marie-Tooth disease recessive intermediate A4 tests
Charcot-Marie-Tooth disease recessive intermediate C3 tests
Charcot-Marie-Tooth disease recessive intermediate D3 tests
Charcot-Marie-Tooth disease type 1B4 tests
Charcot-Marie-Tooth disease type 1C2 tests
Charcot-Marie-Tooth disease type 1D2 tests
Charcot-Marie-Tooth disease type 1E4 tests
Charcot-Marie-Tooth disease type 1F2 tests
Charcot-Marie-Tooth disease type 2A24 tests
Charcot-Marie-Tooth disease type 2B2 tests
Charcot-Marie-Tooth disease type 2B115 tests
Charcot-Marie-Tooth disease type 2B25 tests
Charcot-Marie-Tooth disease type 2E2 tests
Charcot-Marie-Tooth disease type 2I4 tests
Charcot-Marie-Tooth disease type 2J4 tests
Charcot-Marie-Tooth disease type 2R2 tests
Charcot-Marie-Tooth disease type 2Y4 tests
Charcot-Marie-Tooth disease type 4A4 tests
Charcot-Marie-Tooth disease type 4B12 tests
Charcot-Marie-Tooth disease type 4B23 tests
Charcot-Marie-Tooth disease type 4B32 tests
Charcot-Marie-Tooth disease type 4C4 tests
Charcot-Marie-Tooth disease type 4D4 tests
Charcot-Marie-Tooth disease type 4E2 tests
Charcot-Marie-Tooth disease type 4F2 tests
Charcot-Marie-Tooth disease type 4G5 tests
Charcot-Marie-Tooth disease type 4H2 tests
Charcot-Marie-Tooth disease type 4J7 tests
Charcot-Marie-Tooth disease type 4K7 tests
Charcot-Marie-Tooth disease X-linked dominant 14 tests
Charcot-Marie-Tooth disease X-linked dominant 64 tests
Charcot-Marie-Tooth disease X-linked recessive 43 tests
Charcot-Marie-Tooth disease X-linked recessive 58 tests
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;4 tests
Charcot-marie-tooth disease, axonal, type 2DD3 tests
Charcot-Marie-Tooth disease, axonal, type 2EE7 tests
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive4 tests
Charcot-Marie-Tooth disease, demyelinating, type 1G2 tests
Charcot-Marie-Tooth disease, dominant intermediate G2 tests
Charcot-Marie-Tooth disease, type IA4 tests
CHARGE association12 tests
Charlevoix-Saguenay spastic ataxia5 tests
Chilblain lupus 111 tests
Chilblain lupus 28 tests
Child syndrome3 tests
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency6 tests
Childhood hypophosphatasia3 tests
Childhood onset GLUT1 deficiency syndrome 211 tests
CHIME syndrome3 tests
Chitotriosidase deficiency2 tests
Cholestanol storage disease18 tests
Cholestasis, intrahepatic, of pregnancy, 11 test
Cholestasis, intrahepatic, of pregnancy, 32 tests
Cholestasis, progressive familial intrahepatic, 42 tests
Cholestasis, progressive familial intrahepatic, 52 tests
Chondrocalcinosis 21 test
Chondrodysplasia Blomstrand type3 tests
Chondrodysplasia punctata 2 X-linked dominant2 tests
Chondrosarcoma5 tests
Chorea, childhood-onset, with psychomotor retardation1 test
Chorea-acanthocytosis6 tests
Choroid plexus papilloma7 tests
Choroidal dystrophy, central areolar 22 tests
Choroidal dystrophy, central areolar, 12 tests
Choroideremia3 tests
Christianson syndrome4 tests
Chromosome 11, deletion 11p2 tests
Chromosome 11, partial trisomy 11q2 tests
Chromosome 11p, partial deletion2 tests
Chromosome 11q trisomy2 tests
Chromosome 13q trisomy2 tests
Chromosome 14 deletion2 tests
Chromosome 14 trisomy2 tests
Chromosome 15q, partial deletion2 tests
Chromosome 15q, tetrasomy2 tests
Chromosome 15q11.2 deletion syndrome1 test
Chromosome 16 trisomy2 tests
Chromosome 17p deletion2 tests
Chromosome 1p32-p31 deletion syndrome2 tests
Chromosome 1p36 deletion syndrome1 test
Chromosome 1q deletion2 tests
Chromosome 1q21.1 deletion syndrome3 tests
Chromosome 2p16.3 deletion syndrome3 tests
Chromosome 2q32-q33 deletion syndrome4 tests
Chromosome 3, monosomy 3p14 p112 tests
Chromosome 4 short arm deletion2 tests
Chromosome 4, Trisomy 4p2 tests
Chromosome 5, trisomy 5p2 tests
Chromosome 7, monosomy2 tests
Chromosome 8, monosomy 8p2 tests
Chromosome 9, trisomy 9p2 tests
Chromosome 9, trisomy 9q2 tests
Chromosome 9p deletion syndrome2 tests
Chromosome Xq28 duplication syndrome2 tests
Chronic granulomatous disease2 tests
Chronic infantile neurological, cutaneous and articular syndrome5 tests
Chronic myelogenous leukemia, BCR-ABL1 positive1 test
Chudley-McCullough syndrome2 tests
Chuvash polycythemia4 tests
Chylomicron retention disease6 tests
Chédiak-Higashi syndrome10 tests
Ciliary dyskinesia, primary, 373 tests
Ciliary dyskinesia, primary, 393 tests
Ciliary dyskinesia, primary, 403 tests
Ciliary dyskinesia, primary, 423 tests
Citalopram response2 tests
Citrin deficiency2 tests
Citrullinemia1 test
Citrullinemia type I13 tests
Citrullinemia type II4 tests
Citrullinemia, type II, adult-onset9 tests
CK syndrome3 tests
CLAPO syndrome3 tests
Classic dopamine transporter deficiency syndrome7 tests
Classic Hodgkin lymphoma1 test
Classic homocystinuria12 tests
Cleft lip/palate-ectodermal dysplasia syndrome2 tests
Cleidocranial dysostosis1 test
Clopidogrel response1 test
CLOVES syndrome3 tests
Clozapine response1 test
Clubfoot1 test
COACH syndrome 18 tests
COACH syndrome 24 tests
COACH syndrome 33 tests
Cobalamin C disease14 tests
Cobblestone lissencephaly without muscular or ocular involvement2 tests
Cockayne syndrome type 15 tests
Cockayne syndrome type 23 tests
Cocoon syndrome2 tests
CODAS syndrome4 tests
Codeine response1 test
Coenzyme Q10 deficiency, primary, 19 tests
Coenzyme Q10 deficiency, primary, 38 tests
Coffin-Lowry syndrome6 tests
Coffin-Siris syndrome 14 tests
Coffin-Siris syndrome 55 tests
Coffin-Siris syndrome 74 tests
COG1 congenital disorder of glycosylation3 tests
COG4-congenital disorder of glycosylation2 tests
COG5-congenital disorder of glycosylation3 tests
COG6-ongenital disorder of glycosylation3 tests
COG7 congenital disorder of glycosylation6 tests
COG8-congenital disorder of glycosylation2 tests
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome5 tests
Cognitive impairment with or without cerebellar ataxia4 tests
Cohen syndrome12 tests
Cohen-Gibson syndrome1 test
Colchicine resistance1 test
Cold-induced sweating syndrome 11 test
Cole-Carpenter syndrome 12 tests
Cole-Carpenter syndrome 24 tests
Coloboma of optic nerve6 tests
Coloboma, ocular, autosomal dominant5 tests
Coloboma, ocular, autosomal recessive1 test
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness3 tests
Colobomatous microphthalmia-rhizomelic dysplasia syndrome1 test
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome3 tests
Colorectal cancer26 tests
Colorectal cancer, hereditary nonpolyposis, type 222 tests
Colorectal cancer, hereditary nonpolyposis, type 68 tests
Colorectal cancer, susceptibility to, 108 tests
Colorectal cancer, susceptibility to, 128 tests
Colton Blood group system1 test
Combined deficiency of sialidase AND beta galactosidase5 tests
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia6 tests
Combined immunodeficiency due to CD3gamma deficiency6 tests
Combined immunodeficiency due to DOCK8 deficiency8 tests
Combined immunodeficiency due to GINS1 deficiency3 tests
Combined immunodeficiency due to LRBA deficiency7 tests
Combined immunodeficiency due to MALT1 deficiency3 tests
Combined immunodeficiency due to moesin deficiency4 tests
Combined immunodeficiency due to ORAI1 deficiency6 tests
Combined immunodeficiency due to OX40 deficiency3 tests
Combined immunodeficiency due to partial RAG1 deficiency7 tests
Combined immunodeficiency due to STIM1 deficiency9 tests
Combined immunodeficiency due to STK4 deficiency6 tests
Combined immunodeficiency due to ZAP70 deficiency6 tests
Combined immunodeficiency with skin granulomas7 tests
Combined immunodeficiency, X-linked7 tests
Combined malonic and methylmalonic acidemia9 tests
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 13 tests
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 23 tests
Combined oxidative phosphorylation defect type 114 tests
Combined oxidative phosphorylation defect type 134 tests
Combined oxidative phosphorylation defect type 145 tests
Combined oxidative phosphorylation defect type 152 tests
Combined oxidative phosphorylation defect type 174 tests
Combined oxidative phosphorylation defect type 22 tests
Combined oxidative phosphorylation defect type 202 tests
Combined oxidative phosphorylation defect type 212 tests
Combined oxidative phosphorylation defect type 232 tests
Combined oxidative phosphorylation defect type 243 tests
Combined oxidative phosphorylation defect type 253 tests
Combined oxidative phosphorylation defect type 264 tests
Combined oxidative phosphorylation defect type 273 tests
Combined oxidative phosphorylation defect type 301 test
Combined oxidative phosphorylation defect type 43 tests
Combined oxidative phosphorylation defect type 72 tests
Combined oxidative phosphorylation defect type 82 tests
Combined oxidative phosphorylation defect type 91 test
Combined oxidative phosphorylation deficiency2 tests
Combined oxidative phosphorylation deficiency 192 tests
Combined oxidative phosphorylation deficiency 281 test
Combined oxidative phosphorylation deficiency 291 test
Combined oxidative phosphorylation deficiency 322 tests
Combined oxidative phosphorylation deficiency 331 test
Combined oxidative phosphorylation deficiency 341 test
Combined oxidative phosphorylation deficiency 351 test
Combined oxidative phosphorylation deficiency 361 test
Combined oxidative phosphorylation deficiency 381 test
Combined oxidative phosphorylation deficiency 392 tests
Combined oxidative phosphorylation deficiency 402 tests
Combined oxidative phosphorylation deficiency 442 tests
Combined oxidative phosphorylation deficiency 452 tests
Combined oxidative phosphorylation deficiency 461 test
Combined oxidative phosphorylation deficiency 482 tests
Combined pituitary hormone deficiencies, genetic form2 tests
Complement component 2 deficiency3 tests
Complement component 3 deficiency4 tests
Complement component 5 deficiency3 tests
Complement component 6 deficiency3 tests
Complement component 7 deficiency3 tests
Complement component 9 deficiency3 tests
Complement component C1s deficiency4 tests
Complement factor b deficiency4 tests
Complete trisomy 13 syndrome2 tests
Complete trisomy 20 syndrome2 tests
Complete trisomy 21 syndrome13 tests
Complex cortical dysplasia with other brain malformations 13 tests
Complex cortical dysplasia with other brain malformations 32 tests
Complex cortical dysplasia with other brain malformations 42 tests
Complex cortical dysplasia with other brain malformations 54 tests
Complex cortical dysplasia with other brain malformations 71 test
Compton-North congenital myopathy3 tests
Cone dystrophy 31 test
Cone dystrophy 42 tests
Cone dystrophy with supernormal rod response2 tests
Cone-rod dystrophy 101 test
Cone-rod dystrophy 112 tests
Cone-rod dystrophy 122 tests
Cone-rod dystrophy 132 tests
Cone-rod dystrophy 151 test
Cone-rod dystrophy 163 tests
Cone-rod dystrophy 181 test
Cone-rod dystrophy 191 test
Cone-rod dystrophy 22 tests
Cone-rod dystrophy 201 test
Cone-rod dystrophy 212 tests
Cone-rod dystrophy 32 tests
Cone-rod dystrophy 51 test
Cone-rod dystrophy 62 tests
Cone-rod dystrophy 71 test
Cone-rod dystrophy 91 test
Cone-rod dystrophy and hearing loss 12 tests
Cone-rod dystrophy and hearing loss 23 tests
Cone-rod synaptic disorder, congenital nonprogressive2 tests
Congenital absence of salivary gland1 test
Congenital adrenal hyperplasia2 tests
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency3 tests
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 deficiency1 test
Congenital afibrinogenemia1 test
Congenital amegakaryocytic thrombocytopenia7 tests
Congenital anomalies of kidney and urinary tract 11 test
Congenital anomalies of kidney and urinary tract 31 test
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay2 tests
Congenital bilateral aplasia of vas deferens from CFTR mutation6 tests
Congenital bile acid synthesis defect 12 tests
Congenital bile acid synthesis defect 21 test
Congenital bile acid synthesis defect 36 tests
Congenital bile acid synthesis defect 49 tests
Congenital bile acid synthesis defect 52 tests
Congenital bile acid synthesis defect 62 tests
Congenital brain dysgenesis due to glutamine synthetase deficiency4 tests
Congenital cataract-hearing loss-severe developmental delay syndrome4 tests
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome3 tests
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome1 test
Congenital cataracts-facial dysmorphism-neuropathy syndrome4 tests
Congenital central hypoventilation1 test
Congenital chromosomal disease2 tests
Congenital contractural arachnodactyly2 tests
Congenital contractures of the limbs and face, hypotonia, and developmental delay1 test
Congenital defect of folate absorption7 tests
Congenital diarrhea 5 with tufting enteropathy5 tests
Congenital diarrhea 63 tests
Congenital diarrhea 7 with exudative enteropathy3 tests
Congenital disorder of deglycosylation7 tests
Congenital disorder of deglycosylation 12 tests
Congenital disorder of glycosylation5 tests
Congenital disorder of glycosylation type 1E7 tests
Congenital disorder of glycosylation type Ir3 tests
Congenital disorder of glycosylation with defective fucosylation 12 tests
Congenital disorder of glycosylation, type IAA4 tests
Congenital disorder of glycosylation, type ICC9 tests
Congenital disorder of glycosylation, type IIq2 tests
Congenital disorder of glycosylation, type IIr6 tests
Congenital disorder of glycosylation, type IIw1 test
Congenital dyserythropoietic anemia type 43 tests
Congenital dyserythropoietic anemia, type II5 tests
Congenital generalized lipodystrophy type 27 tests
Congenital generalized lipodystrophy type 31 test
Congenital glucose-galactose malabsorption4 tests
Congenital heart block1 test
Congenital heart defects and skeletal malformations syndrome1 test
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder2 tests
Congenital heart defects, multiple types, 22 tests
Congenital heart defects, multiple types, 42 tests
Congenital heart defects, multiple types, 53 tests
Congenital heart defects, multiple types, 62 tests
Congenital heart disease3 tests
Congenital hepatic fibrosis1 test
Congenital hereditary endothelial dystrophy of cornea2 tests
Congenital hyperammonemia, type I13 tests
Congenital hypotrichosis with juvenile macular dystrophy4 tests
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome5 tests
Congenital insensitivity to pain-hypohidrosis syndrome2 tests
Congenital isolated adrenocorticotropic hormone deficiency2 tests
Congenital lactase deficiency3 tests
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type4 tests
Congenital lipoid adrenal hyperplasia due to STAR deficency3 tests
Congenital long QT syndrome1 test
Congenital macrodactylia3 tests
Congenital malabsorptive diarrhea 44 tests
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome11 tests
Congenital microvillous atrophy4 tests
Congenital multicore myopathy with external ophthalmoplegia6 tests
Congenital muscular dystrophy due to integrin alpha-7 deficiency4 tests
Congenital muscular dystrophy due to LMNA mutation15 tests
Congenital muscular dystrophy with intellectual disability and severe epilepsy7 tests
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome2 tests
Congenital muscular hypertrophy-cerebral syndrome6 tests
Congenital myasthenic syndrome2 tests
Congenital myasthenic syndrome 102 tests
Congenital myasthenic syndrome 114 tests
Congenital myasthenic syndrome 124 tests
Congenital myasthenic syndrome 136 tests
Congenital myasthenic syndrome 143 tests
Congenital myasthenic syndrome 154 tests
Congenital myasthenic syndrome 167 tests
Congenital myasthenic syndrome 174 tests
Congenital myasthenic syndrome 181 test
Congenital myasthenic syndrome 192 tests
Congenital myasthenic syndrome 1A2 tests
Congenital myasthenic syndrome 204 tests
Congenital myasthenic syndrome 212 tests
Congenital myasthenic syndrome 2A2 tests
Congenital myasthenic syndrome 2C2 tests
Congenital myasthenic syndrome 3A2 tests
Congenital myasthenic syndrome 3B2 tests
Congenital myasthenic syndrome 3C2 tests
Congenital myasthenic syndrome 4A2 tests
Congenital myasthenic syndrome 4B2 tests
Congenital myasthenic syndrome 4C4 tests
Congenital myasthenic syndrome 52 tests
Congenital myasthenic syndrome 72 tests
Congenital myasthenic syndrome 82 tests
Congenital myasthenic syndrome 92 tests
Congenital myopathy with fiber type disproportion10 tests
Congenital myopathy with internal nuclei and atypical cores3 tests
Congenital myotonia, autosomal dominant form3 tests
Congenital myotonia, autosomal recessive form3 tests
Congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome5 tests
Congenital neutropenia2 tests
Congenital neutropenia-myelofibrosis-nephromegaly syndrome6 tests
Congenital primary aphakia3 tests
Congenital prothrombin deficiency2 tests
Congenital reticular ichthyosiform erythroderma2 tests
Congenital secretory diarrhea, chloride type3 tests
Congenital secretory sodium diarrhea 33 tests
Congenital secretory sodium diarrhea 83 tests
Congenital sensory neuropathy with selective loss of small myelinated fibers2 tests
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome8 tests
Congenital stationary night blindness 1A2 tests
Congenital stationary night blindness 1B2 tests
Congenital stationary night blindness 1C2 tests
Congenital stationary night blindness 1D2 tests
Congenital stationary night blindness 1E2 tests
Congenital stationary night blindness 1F2 tests
Congenital stationary night blindness 1G2 tests
Congenital stationary night blindness 1H2 tests
Congenital stationary night blindness 2A2 tests
Congenital stationary night blindness autosomal dominant 12 tests
Congenital stationary night blindness autosomal dominant 22 tests
Congenital stationary night blindness autosomal dominant 32 tests
Congenital stromal corneal dystrophy1 test
Conotruncal heart malformations12 tests
Constitutional megaloblastic anemia with severe neurologic disease6 tests
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A3 tests
Contractures, pterygia, and variable skeletal fusions syndrome 1B3 tests
COPD, severe early onset3 tests
Cornea plana 22 tests
Corneal dystrophy, Fuchs endothelial, 12 tests
Corneal dystrophy, Fuchs endothelial, 34 tests
Corneal dystrophy, Fuchs endothelial, 42 tests
Corneal dystrophy, Fuchs endothelial, 61 test
Corneal dystrophy, lattice type 3A1 test
Corneal dystrophy, Meesmann, 11 test
Corneal dystrophy, Meesmann, 21 test
Corneal dystrophy, posterior polymorphous, 43 tests
Corneal dystrophy-perceptive deafness syndrome4 tests
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome4 tests
Cornelia de Lange syndrome 13 tests
Cornelia de Lange syndrome 33 tests
Cornelia de Lange syndrome 44 tests
Cornelia de Lange syndrome 54 tests
Coronary artery disease, autosomal dominant 22 tests
Corpus callosum agenesis-abnormal genitalia syndrome7 tests
Cortical dysplasia, complex, with other brain malformations 102 tests
Cortical dysplasia-focal epilepsy syndrome5 tests
Cortisone reductase deficiency 11 test
Costello syndrome9 tests
Cowden syndrome10 tests
Cowden syndrome 115 tests
Cowden syndrome 34 tests
Cowden syndrome 53 tests
Cowden syndrome 61 test
Cowden syndrome 75 tests
Coxopodopatellar syndrome1 test
Craniodiaphyseal dysplasia, autosomal dominant1 test
Cranioectodermal dysplasia2 tests
Cranioectodermal dysplasia 14 tests
Cranioectodermal dysplasia 23 tests
Cranioectodermal dysplasia 33 tests
Cranioectodermal dysplasia 47 tests
Craniofacial anomalies and anterior segment dysgenesis syndrome2 tests
Craniofacial dysplasia - osteopenia syndrome1 test
Craniofacial-deafness-hand syndrome2 tests
Craniofrontonasal syndrome1 test
Craniolenticulosutural dysplasia2 tests
Craniometaphyseal dysplasia, autosomal dominant1 test
Craniometaphyseal dysplasia, autosomal recessive10 tests
Craniosynostosis 22 tests
Craniosynostosis 41 test
Craniosynostosis 5, susceptibility to1 test
Craniosynostosis 62 tests
Craniosynostosis 72 tests
Craniosynostosis syndrome1 test
Creatine transporter deficiency11 tests
Crigler-Najjar syndrome type 13 tests
Crigler-Najjar syndrome, type II3 tests
Cromer blood group system6 tests
Crouzon syndrome3 tests
Crouzon syndrome-acanthosis nigricans syndrome4 tests
Cryohydrocytosis5 tests
Cryptosporidiosis-chronic cholangitis-liver disease syndrome5 tests
Currarino triad2 tests
Curry-Hall syndrome6 tests
Cushing syndrome2 tests
Cutaneous leiomyoma1 test
Cutaneous mastocytosis2 tests
Cutaneous porphyria2 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 23 tests
Cutis laxa, autosomal dominant 310 tests
Cutis laxa, autosomal recessive, type 1A3 tests
Cutis laxa, autosomal recessive, type 1B1 test
Cutis laxa, X-linked12 tests
Cyclical neutropenia8 tests
Cyclosporine response1 test
CYP2C19-related poor drug metabolism4 tests
Cystic fibrosis18 tests
Cystic leukoencephalopathy without megalencephaly2 tests
Cystinosis4 tests
Cystinuria2 tests
Cytochrome-c oxidase deficiency disease7 tests
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder2 tests
Czech dysplasia, metatarsal type5 tests
D,L-2-hydroxyglutaric aciduria1 test
D-2-hydroxyglutaric aciduria 15 tests
D-2-hydroxyglutaric aciduria 24 tests
D-Glyceric aciduria2 tests
Dalmatian hypouricemia2 tests
Danon disease11 tests
DDX41-related hematologic malignancy predisposition syndrome3 tests
DE SANCTIS-CACCHIONE SYNDROME5 tests
Deafness dystonia syndrome4 tests
Deafness with labyrinthine aplasia, microtia, and microdontia1 test
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 11 test
Deafness, congenital heart defects, and posterior embryotoxon7 tests
Deafness, X-linked 53 tests
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome5 tests
Deafness-lymphedema-leukemia syndrome11 tests
Decreased 3-hydroxyacyl-CoA dehydrogenase level2 tests
Deficiency of 2-methylbutyryl-CoA dehydrogenase5 tests
Deficiency of 3-hydroxyacyl-CoA dehydrogenase7 tests
Deficiency of acetyl-CoA acetyltransferase11 tests
Deficiency of alpha-mannosidase12 tests
Deficiency of aromatic-L-amino-acid decarboxylase10 tests
Deficiency of beta-ureidopropionase1 test
Deficiency of bisphosphoglycerate mutase2 tests
Deficiency of butyryl-CoA dehydrogenase6 tests
Deficiency of cytochrome-b5 reductase2 tests
Deficiency of ferroxidase7 tests
Deficiency of galactokinase6 tests
Deficiency of guanidinoacetate methyltransferase11 tests
Deficiency of hyaluronoglucosaminidase6 tests
Deficiency of hydroxymethylglutaryl-CoA lyase14 tests
Deficiency of isobutyryl-CoA dehydrogenase3 tests
Deficiency of malonyl-CoA decarboxylase9 tests
Deficiency of phosphoserine phosphatase6 tests
Deficiency of pyrroline-5-carboxylate reductase4 tests
Deficiency of steroid 11-beta-monooxygenase3 tests
Deficiency of steroid 17-alpha-monooxygenase3 tests
Deficiency of transaldolase2 tests
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase9 tests
Dehydrated hereditary stomatocytosis 22 tests
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema2 tests
Dejerine-Sottas disease4 tests
Deletion of long arm of chromosome 132 tests
Delpire-McNeill syndrome2 tests
Dent disease1 test
Dent disease type 15 tests
Dent disease type 28 tests
Denticles1 test
Dentin dysplasia type I1 test
Dentinogenesis imperfecta type 21 test
Dentinogenesis imperfecta type 31 test
Dermatofibrosis lenticularis disseminata2 tests
Dermatopathia pigmentosa reticularis2 tests
Desbuquois dysplasia 13 tests
Desbuquois dysplasia 23 tests
Desmin-related myofibrillar myopathy10 tests
Desmoid disease, hereditary10 tests
Desmosterolosis2 tests
Developmental and epileptic encephalopathy 6B1 test
Developmental and epileptic encephalopathy 891 test
Developmental and epileptic encephalopathy 942 tests
Developmental and epileptic encephalopathy, 18 tests
Developmental and epileptic encephalopathy, 113 tests
Developmental and epileptic encephalopathy, 121 test
Developmental and epileptic encephalopathy, 135 tests
Developmental and epileptic encephalopathy, 145 tests
Developmental and epileptic encephalopathy, 153 tests
Developmental and epileptic encephalopathy, 164 tests
Developmental and epileptic encephalopathy, 175 tests
Developmental and epileptic encephalopathy, 181 test
Developmental and epileptic encephalopathy, 193 tests
Developmental and epileptic encephalopathy, 25 tests
Developmental and epileptic encephalopathy, 232 tests
Developmental and epileptic encephalopathy, 256 tests
Developmental and epileptic encephalopathy, 262 tests
Developmental and epileptic encephalopathy, 275 tests
Developmental and epileptic encephalopathy, 284 tests
Developmental and epileptic encephalopathy, 33 tests
Developmental and epileptic encephalopathy, 301 test
Developmental and epileptic encephalopathy, 311 test
Developmental and epileptic encephalopathy, 324 tests
Developmental and epileptic encephalopathy, 332 tests
Developmental and epileptic encephalopathy, 342 tests
Developmental and epileptic encephalopathy, 353 tests
Developmental and epileptic encephalopathy, 365 tests
Developmental and epileptic encephalopathy, 372 tests
Developmental and epileptic encephalopathy, 394 tests
Developmental and epileptic encephalopathy, 46 tests
Developmental and epileptic encephalopathy, 413 tests
Developmental and epileptic encephalopathy, 426 tests
Developmental and epileptic encephalopathy, 434 tests
Developmental and epileptic encephalopathy, 442 tests
Developmental and epileptic encephalopathy, 453 tests
Developmental and epileptic encephalopathy, 462 tests
Developmental and epileptic encephalopathy, 472 tests
Developmental and epileptic encephalopathy, 491 test
Developmental and epileptic encephalopathy, 54 tests
Developmental and epileptic encephalopathy, 505 tests
Developmental and epileptic encephalopathy, 512 tests
Developmental and epileptic encephalopathy, 522 tests
Developmental and epileptic encephalopathy, 533 tests
Developmental and epileptic encephalopathy, 543 tests
Developmental and epileptic encephalopathy, 554 tests
Developmental and epileptic encephalopathy, 562 tests
Developmental and epileptic encephalopathy, 583 tests
Developmental and epileptic encephalopathy, 592 tests
Developmental and epileptic encephalopathy, 624 tests
Developmental and epileptic encephalopathy, 631 test
Developmental and epileptic encephalopathy, 643 tests
Developmental and epileptic encephalopathy, 652 tests
Developmental and epileptic encephalopathy, 662 tests
Developmental and epileptic encephalopathy, 683 tests
Developmental and epileptic encephalopathy, 693 tests
Developmental and epileptic encephalopathy, 73 tests
Developmental and epileptic encephalopathy, 731 test
Developmental and epileptic encephalopathy, 743 tests
Developmental and epileptic encephalopathy, 752 tests
Developmental and epileptic encephalopathy, 774 tests
Developmental and epileptic encephalopathy, 783 tests
Developmental and epileptic encephalopathy, 87 tests
Developmental and epileptic encephalopathy, 804 tests
Developmental and epileptic encephalopathy, 815 tests
Developmental and epileptic encephalopathy, 825 tests
Developmental and epileptic encephalopathy, 85, with or without midline brain defects6 tests
Developmental and epileptic encephalopathy, 93 tests
Developmental cataract1 test
Developmental delay2 tests
Developmental delay and seizures with or without movement abnormalities5 tests
Developmental delay with or without dysmorphic facies and autism4 tests
Developmental delay with variable intellectual impairment and behavioral abnormalities2 tests
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy1 test
Developmental malformations-deafness-dystonia syndrome10 tests
Dextromethorphan response1 test
Diabetes insipidus, nephrogenic, autosomal2 tests
Diabetes insipidus, nephrogenic, X-linked2 tests
Diabetes mellitus type 14 tests
Diabetes mellitus, ketosis-prone1 test
Diabetes mellitus, permanent neonatal 22 tests
Diabetes mellitus, permanent neonatal 32 tests
Diabetes mellitus, permanent neonatal 41 test
Diabetes mellitus, transient neonatal, 11 test
Diabetes mellitus, transient neonatal, 22 tests
Diabetes mellitus, transient neonatal, 32 tests
Diamond-Blackfan anemia 13 tests
Diamond-Blackfan anemia 103 tests
Diamond-Blackfan anemia 113 tests
Diamond-Blackfan anemia 123 tests
Diamond-Blackfan anemia 133 tests
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis2 tests
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis2 tests
Diamond-Blackfan anemia 161 test
Diamond-Blackfan anemia 171 test
Diamond-Blackfan anemia 181 test
Diamond-Blackfan anemia 191 test
Diamond-Blackfan anemia 201 test
Diamond-Blackfan anemia 33 tests
Diamond-Blackfan anemia 53 tests
Diamond-Blackfan anemia 64 tests
Diamond-Blackfan anemia 74 tests
Diamond-Blackfan anemia 83 tests
Diamond-Blackfan anemia 93 tests
Diaphanospondylodysostosis1 test
Diaphragmatic hernia 32 tests
Diaphyseal dysplasia7 tests
Diarrhea 10, protein-losing enteropathy type2 tests
Diarrhea 93 tests
Diastrophic dysplasia6 tests
DICER1 syndrome3 tests
Diencephalic-mesencephalic junction dysplasia syndrome 12 tests
Diffuse nonepidermolytic palmoplantar keratoderma2 tests
DiGeorge syndrome10 tests
Dihydropteridine reductase deficiency9 tests
Dihydropyrimidine dehydrogenase deficiency2 tests
Dilated cardiomyopathy 1A16 tests
Dilated cardiomyopathy 1AA6 tests
Dilated cardiomyopathy 1BB6 tests
Dilated cardiomyopathy 1C2 tests
Dilated cardiomyopathy 1D6 tests
Dilated cardiomyopathy 1DD5 tests
Dilated cardiomyopathy 1E5 tests
Dilated cardiomyopathy 1EE1 test
Dilated cardiomyopathy 1FF6 tests
Dilated cardiomyopathy 1G10 tests
Dilated cardiomyopathy 1GG9 tests
Dilated cardiomyopathy 1HH10 tests
Dilated cardiomyopathy 1I10 tests
Dilated cardiomyopathy 1II5 tests
Dilated cardiomyopathy 1J4 tests
Dilated cardiomyopathy 1KK3 tests
Dilated cardiomyopathy 1L7 tests
Dilated cardiomyopathy 1M4 tests
Dilated cardiomyopathy 1NN6 tests
Dilated cardiomyopathy 1O5 tests
Dilated cardiomyopathy 1P6 tests
Dilated cardiomyopathy 1R5 tests
Dilated cardiomyopathy 1S7 tests
Dilated cardiomyopathy 1U1 test
Dilated cardiomyopathy 1V1 test
Dilated cardiomyopathy 1W4 tests
Dilated cardiomyopathy 1X12 tests
Dilated cardiomyopathy 1Y4 tests
Dilated cardiomyopathy 1Z4 tests
Dilated cardiomyopathy 2A7 tests
Dilated cardiomyopathy 3B12 tests
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome15 tests
Disorder due cytochrome p450 CYP1A21 test
Disorder due cytochrome p450 CYP2C19 variant2 tests
Disorder due cytochrome p450 CYP2C9 variant1 test
Disorder due cytochrome p450 CYP2D6 variant3 tests
Disorder due cytochrome p450 CYP3A41 test
Disorder due cytochrome p450 CYP3A5 variant1 test
Disorder of amino acid metabolism1 test
Disorder of fatty acid metabolism8 tests
Disorder of organic acid metabolism3 tests
Disorder of the urea cycle metabolism5 tests
Distal myopathy with anterior tibial onset5 tests
Distal myopathy with posterior leg and anterior hand involvement8 tests
Distal myopathy, Tateyama type5 tests
Distal trisomy 6q2 tests
DK1-congenital disorder of glycosylation7 tests
DNA ligase IV deficiency8 tests
DOCK2 deficiency3 tests
Dominant dystrophic epidermolysis bullosa with absence of skin3 tests
Donnai-Barrow syndrome4 tests
DOORS syndrome4 tests
Dopa-responsive dystonia due to sepiapterin reductase deficiency9 tests
Dopamine beta-hydroxylase deficiency6 tests
Dowling-Degos disease 11 test
Dowling-Degos disease 22 tests
Dowling-Degos disease 45 tests
Doyne honeycomb retinal dystrophy2 tests
DPAGT1-congenital disorder of glycosylation6 tests
DPM3-congenital disorder of glycosylation7 tests
Drash syndrome8 tests
Duane retraction syndrome 3 with or without deafness1 test
Duane-radial ray syndrome2 tests
Dubin-Johnson syndrome1 test
Duchenne muscular dystrophy10 tests
Duloxetine response1 test
Dyggve-Melchior-Clausen syndrome1 test
DYRK1A-related intellectual disability syndrome5 tests
Dyschromatosis universalis hereditaria 31 test
Dyskeratosis congenita3 tests
Dyskeratosis congenita, autosomal dominant 111 tests
Dyskeratosis congenita, autosomal dominant 211 tests
Dyskeratosis congenita, autosomal dominant 38 tests
Dyskeratosis congenita, autosomal dominant 66 tests
Dyskeratosis congenita, autosomal recessive 16 tests
Dyskeratosis congenita, autosomal recessive 26 tests
Dyskeratosis congenita, autosomal recessive 35 tests
Dyskeratosis congenita, autosomal recessive 512 tests
Dyskeratosis congenita, autosomal recessive 68 tests
Dyskeratosis congenita, X-linked12 tests
Dyskinesia with orofacial involvement, autosomal dominant2 tests
Dyskinesia, limb and orofacial, infantile-onset1 test
Dyslexia, susceptibility to, 13 tests
Dysmorphic features2 tests
Dystonia 127 tests
Dystonia 163 tests
Dystonia 242 tests
Dystonia 252 tests
Dystonia 277 tests
Dystonia 28, childhood-onset3 tests
Dystonia 510 tests
Dystonia 911 tests
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities3 tests
Early-onset autosomal dominant Alzheimer disease1 test
Early-onset generalized limb-onset dystonia3 tests
Early-onset myopathy with fatal cardiomyopathy10 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 syndrome7 tests
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant1 test
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive1 test
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant1 test
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive1 test
Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type1 test
Ectodermal dysplasia 13, hair/tooth type1 test
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis2 tests
Ectodermal dysplasia 4, hair/nail type1 test
Ectodermal dysplasia 7, hair/nail type1 test
Ectodermal dysplasia and immunodeficiency 25 tests
Ectodermal dysplasia-syndactyly syndrome 12 tests
Ectopia lentis 1, isolated, autosomal dominant6 tests
Ectopia lentis 2, isolated, autosomal recessive1 test
Ectopia lentis et pupillae1 test
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 36 tests
Eculizumab, poor response to3 tests
EDICT syndrome1 test
EEM syndrome4 tests
Efavirenz response3 tests
EGFR-related lung cancer1 test
Ehlers-Danlos syndrome progeroid type3 tests
Ehlers-danlos syndrome, arthrochalasia type, 24 tests
Ehlers-Danlos syndrome, arthrochalasis type4 tests
Ehlers-Danlos syndrome, cardiac valvular type4 tests
Ehlers-Danlos syndrome, classic type, 14 tests
Ehlers-Danlos syndrome, classic type, 24 tests
Ehlers-Danlos syndrome, classic-like, 21 test
Ehlers-Danlos syndrome, dermatosparaxis type3 tests
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type5 tests
Ehlers-Danlos syndrome, kyphoscoliotic type 13 tests
Ehlers-Danlos syndrome, musculocontractural type 15 tests
Ehlers-Danlos syndrome, musculocontractural type 23 tests
Ehlers-Danlos syndrome, periodontal type 24 tests
Ehlers-Danlos syndrome, spondylocheirodysplastic type3 tests
Ehlers-Danlos syndrome, spondylodysplastic type, 13 tests
Ehlers-Danlos syndrome, spondylodysplastic type, 25 tests
Ehlers-Danlos syndrome, type 46 tests
Eichsfeld type congenital muscular dystrophy3 tests
Eiken syndrome3 tests
Elevated circulating creatine kinase concentration5 tests
Elliptocytosis 12 tests
Elliptocytosis 22 tests
Elliptocytosis 32 tests
Ellis-van Creveld syndrome8 tests
Emery-Dreifuss muscular dystrophy 3, autosomal recessive15 tests
Emery-Dreifuss muscular dystrophy 4, autosomal dominant1 test
Emery-Dreifuss muscular dystrophy 7, autosomal dominant5 tests
Encephalocraniocutaneous lipomatosis5 tests
Encephalopathy due to defective mitochondrial and peroxisomal fission 22 tests
Encephalopathy due to GLUT1 deficiency11 tests
Encephalopathy due to prosaposin deficiency7 tests
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 82 tests
Encephalopathy, acute, infection-induced, susceptibility to, 412 tests
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 15 tests
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities6 tests
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 13 tests
Encephalopathy, progressive, with amyotrophy and optic atrophy3 tests
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome4 tests
Endometrial carcinoma12 tests
Endometrial neoplasm5 tests
Enhanced S-cone syndrome3 tests
Enterokinase deficiency2 tests
Epidermal nevus12 tests
Epidermodysplasia verruciformis, susceptibility to, 12 tests
Epidermodysplasia verruciformis, susceptibility to, 22 tests
Epidermodysplasia verruciformis, susceptibility to, 32 tests
Epidermodysplasia verruciformis, susceptibility to, 44 tests
Epidermolysis bullosa1 test
Epidermolysis bullosa dystrophica1 test
Epidermolysis bullosa pruriginosa3 tests
Epidermolysis bullosa simplex 1A, generalized severe2 tests
Epidermolysis bullosa simplex 1C, localized4 tests
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive2 tests
Epidermolysis bullosa simplex 2A, generalized severe1 test
Epidermolysis bullosa simplex 2B, generalized intermediate1 test
Epidermolysis bullosa simplex 2C, localized1 test
Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive1 test
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency3 tests
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive1 test
Epidermolysis bullosa simplex 5B, with muscular dystrophy4 tests
Epidermolysis bullosa simplex 5C, with pyloric atresia4 tests
Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss1 test
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 dystrophy4 tests
Epidermolysis bullosa simplex, Koebner type2 tests
Epidermolysis bullosa simplex, Ogna type4 tests
Epidermolytic palmoplantar keratoderma2 tests
Epilepsy, childhood absence 22 tests
Epilepsy, childhood absence, susceptibility to, 54 tests
Epilepsy, childhood absence, susceptibility to, 61 test
Epilepsy, familial adult myoclonic, 51 test
Epilepsy, familial focal, with variable foci 12 tests
Epilepsy, familial focal, with variable foci 32 tests
Epilepsy, familial focal, with variable foci 44 tests
Epilepsy, familial temporal lobe, 13 tests
Epilepsy, idiopathic generalized, susceptibility to, 112 tests
Epilepsy, idiopathic generalized, susceptibility to, 1211 tests
Epilepsy, idiopathic generalized, susceptibility to, 133 tests
Epilepsy, idiopathic generalized, susceptibility to, 142 tests
Epilepsy, idiopathic generalized, susceptibility to, 151 test
Epilepsy, idiopathic generalized, susceptibility to, 165 tests
Epilepsy, idiopathic generalized, susceptibility to, 181 test
Epilepsy, idiopathic generalized, susceptibility to, 87 tests
Epilepsy, progressive myoclonic, 1B1 test
Epileptic encephalopathy, infantile or early childhood, 14 tests
Epileptic encephalopathy, infantile or early childhood, 22 tests
Epileptic encephalopathy, infantile or early childhood, 32 tests
Epiphyseal dysplasia, multiple, 25 tests
Epiphyseal dysplasia, multiple, 35 tests
Epiphyseal dysplasia, multiple, 65 tests
Epiphyseal dysplasia, multiple, 73 tests
Episodic ataxia type 13 tests
Episodic ataxia type 26 tests
Episodic ataxia type 64 tests
Episodic ataxia, type 93 tests
Episodic kinesigenic dyskinesia 14 tests
Epithelial basement membrane dystrophy1 test
Epithelial recurrent erosion dystrophy2 tests
Erythrocytosis, familial, 31 test
Erythrocytosis, familial, 41 test
Erythrokeratodermia variabilis et progressiva 12 tests
Erythrokeratodermia variabilis et progressiva 21 test
Erythrokeratodermia variabilis et progressiva 310 tests
Erythrokeratodermia variabilis et progressiva 41 test
Erythrokeratodermia variabilis et progressiva 51 test
Erythrokeratodermia variabilis et progressiva 62 tests
Essential hypertension4 tests
Essential hypertension, genetic4 tests
Ethylmalonic encephalopathy11 tests
Euthyroid goiter7 tests
Exercise intolerance, riboflavin-responsive1 test
Exercise-induced hyperinsulinism4 tests
Exostoses, multiple, type 11 test
Exostoses, multiple, type 24 tests
Exudative vitreoretinopathy 15 tests
Exudative vitreoretinopathy 2, X-linked3 tests
Exudative vitreoretinopathy 45 tests
Exudative vitreoretinopathy 51 test
Exudative vitreoretinopathy 61 test
Exudative vitreoretinopathy 74 tests
Fabry disease16 tests
Fabry disease, cardiac variant1 test
Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome1 test
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome5 tests
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome1 test
Facioscapulohumeral muscular dystrophy 24 tests
Factor H deficiency5 tests
Factor I deficiency5 tests
Factor V deficiency3 tests
Factor XII deficiency disease1 test
FADD-related immunodeficiency5 tests
Familial acute necrotizing encephalopathy5 tests
Familial adenomatous polyposis 112 tests
Familial adenomatous polyposis 28 tests
Familial adenomatous polyposis 32 tests
Familial amyloid nephropathy with urticaria AND deafness5 tests
Familial aortopathy2 tests
Familial apolipoprotein C-II deficiency1 test
Familial atrial myxoma5 tests
Familial benign flecked retina1 test
Familial benign pemphigus1 test
Familial cancer of breast31 tests
Familial cold autoinflammatory syndrome 15 tests
Familial cold autoinflammatory syndrome 24 tests
Familial cold autoinflammatory syndrome 36 tests
Familial cold autoinflammatory syndrome 47 tests
Familial colorectal cancer13 tests
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome3 tests
Familial digital arthropathy-brachydactyly5 tests
Familial dysautonomia7 tests
Familial dysfibrinogenemia1 test
Familial encephalopathy with neuroserpin inclusion bodies1 test
Familial episodic pain syndrome with predominantly lower limb involvement2 tests
Familial expansile osteolysis5 tests
Familial hemophagocytic lymphohistiocytosis 25 tests
Familial hemophagocytic lymphohistiocytosis 35 tests
Familial hemophagocytic lymphohistiocytosis 45 tests
Familial hemophagocytic lymphohistiocytosis 511 tests
Familial hyperaldosteronism type II2 tests
Familial hypercholesterolemia3 tests
Familial hyperkalemic periodic paralysis7 tests
Familial hypobetalipoproteinemia 12 tests
Familial hypobetalipoproteinemia 21 test
Familial hypocalciuric hypercalcemia 17 tests
Familial hypocalciuric hypercalcemia 22 tests
Familial hypokalemia-hypomagnesemia6 tests
Familial idiopathic hypercalciuria1 test
Familial infantile bilateral striatal necrosis1 test
Familial infantile myasthenia4 tests
Familial infantile myoclonic epilepsy4 tests
Familial isolated congenital asplenia2 tests
Familial isolated deficiency of vitamin E6 tests
Familial juvenile hyperuricemic nephropathy type 15 tests
Familial juvenile hyperuricemic nephropathy type 24 tests
Familial Mediterranean fever10 tests
Familial Mediterranean fever, autosomal dominant8 tests
Familial medullary thyroid carcinoma7 tests
Familial melanoma4 tests
Familial meningioma15 tests
Familial multiple nevi flammei1 test
Familial multiple polyposis syndrome9 tests
Familial ovarian carcinoma6 tests
Familial pancreatic carcinoma4 tests
Familial partial lipodystrophy, Dunnigan type15 tests
Familial porphyria cutanea tarda4 tests
Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome1 test
Familial prostate carcinoma3 tests
Familial pseudohyperkalemia1 test
Familial pulmonary capillary hemangiomatosis1 test
Familial scaphocephaly syndrome, McGillivray type2 tests
Familial spontaneous pneumothorax3 tests
Familial steroid-resistant nephrotic syndrome with sensorineural deafness7 tests
Familial temporal lobe epilepsy 73 tests
Familial thoracic aortic aneurysm and aortic dissection1 test
Familial type 5 hyperlipoproteinemia1 test
Familial visceral amyloidosis, Ostertag type6 tests
Familial X-linked hypophosphatemic vitamin D refractory rickets5 tests
Fanconi anemia2 tests
Fanconi anemia complementation group A4 tests
Fanconi anemia complementation group B4 tests
Fanconi anemia complementation group C7 tests
Fanconi anemia complementation group D16 tests
Fanconi anemia complementation group D23 tests
Fanconi anemia complementation group E4 tests
Fanconi anemia complementation group F4 tests
Fanconi anemia complementation group G3 tests
Fanconi anemia complementation group I4 tests
Fanconi anemia complementation group J5 tests
Fanconi anemia complementation group L4 tests
Fanconi anemia complementation group N8 tests
Fanconi anemia complementation group O5 tests
Fanconi anemia complementation group P4 tests
Fanconi anemia complementation group Q3 tests
Fanconi anemia complementation group R1 test
Fanconi anemia complementation group T3 tests
Fanconi anemia complementation group U1 test
Fanconi anemia complementation group V2 tests
Fanconi anemia, complementation group S4 tests
Fanconi anemia, complementation group W2 tests
Fanconi renotubular syndrome 112 tests
Fanconi renotubular syndrome 26 tests
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young2 tests
Fanconi renotubular syndrome 52 tests
Fanconi-Bickel syndrome6 tests
Farber lipogranulomatosis12 tests
Fatal familial insomnia2 tests
Fatal infantile hypertonic myofibrillar myopathy5 tests
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 35 tests
Fatty acyl-CoA reductase 1 deficiency3 tests
Febrile seizures, familial, 43 tests
Febrile seizures, familial, 81 test
Feingold syndrome type 11 test
Fetal akinesia deformation sequence 12 tests
Fetal akinesia deformation sequence 24 tests
Fetal akinesia deformation sequence 32 tests
Fetal akinesia-cerebral and retinal hemorrhage syndrome7 tests
Fetal hemoglobin quantitative trait locus 63 tests
FG syndrome 17 tests
FG syndrome 29 tests
FG syndrome 44 tests
FGFR2-related bent bone dysplasia2 tests
Fibrochondrogenesis 15 tests
Fibrochondrogenesis 25 tests
Fibromatosis, gingival, 15 tests
FIBROMUSCULAR DYSPLASIA, MULTIFOCAL1 test
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement3 tests
Fibrous dysplasia of jaw3 tests
Filippi syndrome2 tests
Finnish congenital nephrotic syndrome2 tests
Fish-eye disease3 tests
Fleck corneal dystrophy1 test
Floating-Harbor syndrome3 tests
Fluoxetine response1 test
Focal dermal hypoplasia3 tests
Focal facial dermal dysplasia type III1 test
Focal segmental glomerulosclerosis 12 tests
Focal segmental glomerulosclerosis 22 tests
Focal segmental glomerulosclerosis 3, susceptibility to2 tests
Focal segmental glomerulosclerosis 4, susceptibility to2 tests
Focal segmental glomerulosclerosis 55 tests
Focal segmental glomerulosclerosis 62 tests
Focal segmental glomerulosclerosis 76 tests
Focal segmental glomerulosclerosis 83 tests
Focal segmental glomerulosclerosis 93 tests
Focal segmental glomerulosclerosis and neurodevelopmental syndrome1 test
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome3 tests
Foveal hypoplasia 16 tests
Fowler syndrome1 test
Fragile X syndrome3 tests
Frank-Ter Haar syndrome2 tests
Fraser syndrome 14 tests
Fraser syndrome 24 tests
Fraser syndrome 31 test
Frasier syndrome8 tests
Freeman-Sheldon syndrome3 tests
Frontometaphyseal dysplasia 19 tests
Frontometaphyseal dysplasia 21 test
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome2 tests
Frontonasal dysplasia with alopecia and genital anomaly1 test
Frontorhiny1 test
Frontotemporal dementia3 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 27 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 310 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 43 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 65 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 72 tests
Fructose-biphosphatase deficiency4 tests
Fucosidosis8 tests
Fuhrmann syndrome1 test
Fumarase deficiency13 tests
G6PD deficiency1 test
Galactosemia 42 tests
Galactosylceramide beta-galactosidase deficiency15 tests
Gallbladder disease 45 tests
Galloway-Mowat syndrome 13 tests
Galloway-Mowat syndrome 2, X-linked2 tests
Galloway-Mowat syndrome 32 tests
Galloway-Mowat syndrome 42 tests
Galloway-Mowat syndrome 51 test
Galloway-Mowat syndrome 62 tests
Galloway-Mowat syndrome 72 tests
Galloway-Mowat syndrome 81 test
Gamma-aminobutyric acid transaminase deficiency6 tests
Gamma-glutamylcysteine synthetase deficiency4 tests
GAPO syndrome1 test
Gardner syndrome8 tests
Gastric adenocarcinoma and proximal polyposis of the stomach2 tests
Gastric cancer5 tests
Gastrointestinal stromal tumor12 tests
Gaucher disease5 tests
Gaucher disease perinatal lethal5 tests
Gaucher disease type I5 tests
Gaucher disease type II5 tests
Gaucher disease type III5 tests
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome5 tests
GCGR-related hyperglucagonemia1 test
Geleophysic dysplasia 25 tests
Geleophysic dysplasia 34 tests
Generalized dominant dystrophic epidermolysis bullosa3 tests
Generalized epilepsy with febrile seizures plus, type 12 tests
Generalized epilepsy with febrile seizures plus, type 24 tests
Generalized epilepsy with febrile seizures plus, type 72 tests
Generalized epilepsy with febrile seizures plus, type 91 test
Generalized epilepsy-paroxysmal dyskinesia syndrome5 tests
Generalized juvenile polyposis/juvenile polyposis coli11 tests
Generalized pustular psoriasis3 tests
Genitopatellar syndrome5 tests
Genitourinary and/or brain malformation syndrome1 test
Germ cell tumor of testis10 tests
Geroderma osteodysplastica5 tests
Gerstmann-Straussler-Scheinker syndrome2 tests
Ghosal hematodiaphyseal dysplasia1 test
Giant axonal neuropathy 12 tests
Gilbert syndrome3 tests
Gillespie syndrome5 tests
Gillessen-Kaesbach-Nishimura syndrome4 tests
Glanzmann thrombasthenia 12 tests
Glaucoma 1, open angle, A1 test
Glaucoma 1, open angle, F1 test
Glaucoma 1, open angle, G1 test
Glaucoma 3, primary congenital, D4 tests
Glaucoma 3, primary congenital, E1 test
Glaucoma 3, primary infantile, B5 tests
Glaucoma 3A2 tests
Glaucoma, normal tension, susceptibility to8 tests
Glaucoma, primary closed-angle4 tests
Glioma1 test
Glioma susceptibility 18 tests
Glioma susceptibility 210 tests
Glioma susceptibility 36 tests
Glioma susceptibility 95 tests
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome5 tests
Glomerulopathy with fibronectin deposits 23 tests
Glucocorticoid deficiency 42 tests
Glucocorticoid deficiency with achalasia2 tests
Glucocorticoid resistance1 test
Glucocorticoid-remediable aldosteronism1 test
Glucose-6-phosphate transport defect14 tests
Glutamate formiminotransferase deficiency3 tests
Glutaric aciduria, type 110 tests
Glutaryl-CoA oxidase deficiency4 tests
Glutathione synthetase deficiency with 5-oxoprolinuria5 tests
Glutathione synthetase deficiency without 5-oxoprolinuria7 tests
Glycine N-methyltransferase deficiency4 tests
Glycogen storage disease2 tests
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA4 tests
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency5 tests
Glycogen storage disease due to muscle and heart glycogen synthase deficiency5 tests
Glycogen storage disease due to muscle beta-enolase deficiency4 tests
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency6 tests
Glycogen storage disease IXa12 tests
Glycogen storage disease IXb4 tests
Glycogen storage disease IXc2 tests
Glycogen storage disease IXd4 tests
Glycogen storage disease type III9 tests
Glycogen storage disease type X4 tests
Glycogen storage disease XV5 tests
Glycogen storage disease, type II19 tests
Glycogen storage disease, type IV7 tests
Glycogen storage disease, type V4 tests
Glycogen storage disease, type VI2 tests
Glycogen storage disease, type VII8 tests
Glycogen storage disorder due to hepatic glycogen synthase deficiency2 tests
Glycosylphosphatidylinositol biosynthesis defect 153 tests
Glycosylphosphatidylinositol biosynthesis defect 162 tests
Glycosylphosphatidylinositol biosynthesis defect 213 tests
GM1 gangliosidosis type 210 tests
GM1 gangliosidosis type 310 tests
GM3 synthase deficiency5 tests
Gnathodiaphyseal dysplasia7 tests
GNE myopathy9 tests
Goldblatt syndrome3 tests
Gonadotropin-independent familial sexual precocity1 test
Gordon syndrome1 test
Gorlin syndrome8 tests
GRACILE syndrome7 tests
Graft-versus-host disease, susceptibility to5 tests
Granulocytopenia with immunoglobulin abnormality3 tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative6 tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 26 tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 36 tests
Granulomatous disease, chronic, X-linked6 tests
Grebe syndrome2 tests
Greenberg dysplasia1 test
Greig cephalopolysyndactyly syndrome4 tests
Griscelli syndrome type 12 tests
Griscelli syndrome type 28 tests
Griscelli syndrome type 32 tests
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions2 tests
Groenouw corneal dystrophy type I1 test
Growth abnormality3 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 deficiency1 test
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant4 tests
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive4 tests
GTP cyclohydrolase I deficiency8 tests
GTP cyclohydrolase I deficiency with hyperphenylalaninemia2 tests
Guillain-Barre syndrome, familial4 tests
Guttmacher syndrome3 tests
H syndrome6 tests
Haim-Munk syndrome5 tests
Hair morphology 11 test
Hajdu-Cheney syndrome10 tests
Hamartoma of hypothalamus3 tests
Hand-foot-genital syndrome3 tests
Hao-Fountain syndrome2 tests
Harderoporphyria4 tests
Hartsfield-Bixler-Demyer syndrome5 tests
Hashimoto thyroiditis8 tests
Hawkinsinuria2 tests
Hb SS disease1 test
Hearing loss, autosomal dominant 34, with or without inflammation5 tests
Hearing loss, autosomal dominant 375 tests
Hearing loss, autosomal dominant 715 tests
Hearing loss, autosomal dominant 721 test
Hearing loss, autosomal dominant 754 tests
Hearing loss, autosomal dominant 782 tests
Hearing loss, autosomal dominant 801 test
Hearing loss, autosomal dominant 811 test
Hearing loss, autosomal recessive 1061 test
Hearing loss, autosomal recessive 1071 test
Hearing loss, autosomal recessive 1081 test
Hearing loss, autosomal recessive 1101 test
Hearing loss, autosomal recessive 1131 test
Hearing loss, autosomal recessive 573 tests
Hearing loss, autosomal recessive 943 tests
Hearing loss, autosomal recessive 991 test
Hearing loss, X-linked 18 tests
Hearing loss, X-linked 43 tests
Hearing loss, X-linked 63 tests
Heart defect - tongue hamartoma - polysyndactyly syndrome5 tests
Heart, malformation of1 test
Heart-hand syndrome, Slovenian type15 tests
Heimler syndrome 110 tests
Heimler syndrome 212 tests
Helicobacter pylori infection, susceptibility to2 tests
Helicoid peripapillary chorioretinal degeneration1 test
Hematologic neoplasm3 tests
Heme oxygenase 1 deficiency3 tests
Hemochromatosis type 16 tests
Hemochromatosis type 2A4 tests
Hemochromatosis type 2B2 tests
Hemochromatosis type 33 tests
Hemochromatosis type 42 tests
Hemochromatosis type 52 tests
Hemoglobin, high altitude adaptation1 test
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 deficiency5 tests
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency4 tests
Hemolytic uremic syndrome, atypical, susceptibility to, 15 tests
Hennekam lymphangiectasia-lymphedema syndrome 15 tests
Hennekam lymphangiectasia-lymphedema syndrome 27 tests
Hepatic adenomas, familial4 tests
Hepatic methionine adenosyltransferase deficiency6 tests
Hepatic veno-occlusive disease-immunodeficiency syndrome3 tests
Hepatitis B virus, susceptibility to5 tests
Hepatitis C virus, susceptibility to4 tests
Hepatitis, fulminant viral, susceptibility to2 tests
Hepatocellular carcinoma18 tests
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 12 tests
Hereditary acrodermatitis enteropathica2 tests
Hereditary angioedema type 14 tests
Hereditary angioedema type 31 test
Hereditary antithrombin deficiency2 tests
Hereditary breast ovarian cancer syndrome10 tests
Hereditary cancer-predisposing syndrome4 tests
Hereditary cerebral amyloid angiopathy, Icelandic type1 test
Hereditary coproporphyria5 tests
Hereditary cryohydrocytosis with reduced stomatin11 tests
Hereditary diffuse gastric adenocarcinoma19 tests
Hereditary diffuse leukoencephalopathy with spheroids3 tests
Hereditary disease1 test
Hereditary factor IX deficiency disease2 tests
Hereditary factor XI deficiency disease2 tests
Hereditary fructosuria5 tests
Hereditary hearing loss and deafness2 tests
Hereditary hemochromatosis1 test
Hereditary hemorrhagic telangiectasia3 tests
Hereditary hyperferritinemia with congenital cataracts5 tests
Hereditary insensitivity to pain with anhidrosis6 tests
Hereditary leiomyomatosis and renal cell cancer8 tests
Hereditary liability to pressure palsies4 tests
Hereditary motor and sensory neuropathy with optic atrophy4 tests
Hereditary motor and sensory neuropathy, Okinawa type6 tests
Hereditary myopathy with lactic acidosis due to ISCU deficiency5 tests
Hereditary pancreatitis6 tests
Hereditary pheochromocytoma-paraganglioma7 tests
Hereditary sensory and autonomic neuropathy type 63 tests
Hereditary sensory and autonomic neuropathy type 72 tests
Hereditary sensory and autonomic neuropathy with spastic paraplegia1 test
Hereditary sensory neuropathy-deafness-dementia syndrome3 tests
Hereditary spastic paraplegia 106 tests
Hereditary spastic paraplegia 117 tests
Hereditary spastic paraplegia 122 tests
Hereditary spastic paraplegia 134 tests
Hereditary spastic paraplegia 156 tests
Hereditary spastic paraplegia 177 tests
Hereditary spastic paraplegia 182 tests
Hereditary spastic paraplegia 24 tests
Hereditary spastic paraplegia 231 test
Hereditary spastic paraplegia 266 tests
Hereditary spastic paraplegia 283 tests
Hereditary spastic paraplegia 309 tests
Hereditary spastic paraplegia 315 tests
Hereditary spastic paraplegia 357 tests
Hereditary spastic paraplegia 393 tests
Hereditary spastic paraplegia 3A4 tests
Hereditary spastic paraplegia 45 tests
Hereditary spastic paraplegia 424 tests
Hereditary spastic paraplegia 437 tests
Hereditary spastic paraplegia 442 tests
Hereditary spastic paraplegia 453 tests
Hereditary spastic paraplegia 462 tests
Hereditary spastic paraplegia 473 tests
Hereditary spastic paraplegia 483 tests
Hereditary spastic paraplegia 494 tests
Hereditary spastic paraplegia 505 tests
Hereditary spastic paraplegia 513 tests
Hereditary spastic paraplegia 531 test
Hereditary spastic paraplegia 543 tests
Hereditary spastic paraplegia 552 tests
Hereditary spastic paraplegia 562 tests
Hereditary spastic paraplegia 575 tests
Hereditary spastic paraplegia 5A6 tests
Hereditary spastic paraplegia 62 tests
Hereditary spastic paraplegia 612 tests
Hereditary spastic paraplegia 622 tests
Hereditary spastic paraplegia 633 tests
Hereditary spastic paraplegia 643 tests
Hereditary spastic paraplegia 74 tests
Hereditary spastic paraplegia 722 tests
Hereditary spastic paraplegia 732 tests
Hereditary spastic paraplegia 747 tests
Hereditary spastic paraplegia 753 tests
Hereditary spastic paraplegia 775 tests
Hereditary spastic paraplegia 82 tests
Hereditary spastic paraplegia 9A8 tests
Hereditary spherocytosis type 12 tests
Hereditary spherocytosis type 22 tests
Hereditary spherocytosis type 32 tests
Hereditary spherocytosis type 45 tests
Hereditary spherocytosis type 52 tests
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX16 tests
Hereditary thrombophilia2 tests
Hereditary xanthinuria type 13 tests
Hermansky-Pudlak syndrome2 tests
Hermansky-Pudlak syndrome 15 tests
Hermansky-Pudlak syndrome 106 tests
Hermansky-Pudlak syndrome 29 tests
Hermansky-Pudlak syndrome 35 tests
Hermansky-Pudlak syndrome 45 tests
Hermansky-Pudlak syndrome 55 tests
Hermansky-Pudlak syndrome 65 tests
Hermansky-Pudlak syndrome 75 tests
Hermansky-Pudlak syndrome 85 tests
Hermansky-Pudlak syndrome 97 tests
Herpes simplex encephalitis, susceptibility to, 12 tests
Herpes simplex encephalitis, susceptibility to, 32 tests
Herpes simplex encephalitis, susceptibility to, 42 tests
Heterotaxy, visceral, 1, X-linked2 tests
Heterotaxy, visceral, 4, autosomal2 tests
Heterotaxy, visceral, 5, autosomal2 tests
Heterotaxy, visceral, 6, autosomal1 test
Heterotaxy, visceral, 8, autosomal1 test
Heterotopia, periventricular, X-linked dominant9 tests
Heyn-Sproul-Jackson syndrome4 tests
HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME1 test
Hidrotic ectodermal dysplasia syndrome4 tests
High myopia-sensorineural deafness syndrome1 test
Hirschsprung disease, susceptibility to, 12 tests
Hirschsprung disease, susceptibility to, 23 tests
Hirschsprung disease, susceptibility to, 42 tests
Histiocytic medullary reticulosis9 tests
HNSHA due to aldolase A deficiency6 tests
Holocarboxylase synthetase deficiency12 tests
Holoprosencephaly 112 tests
Holoprosencephaly 12 with or without pancreatic agenesis2 tests
Holoprosencephaly 13, X-linked4 tests
Holoprosencephaly 22 tests
Holoprosencephaly 34 tests
Holoprosencephaly 43 tests
Holoprosencephaly 55 tests
Holoprosencephaly 73 tests
Holoprosencephaly 95 tests
Holoprosencephaly sequence2 tests
Holt-Oram syndrome4 tests
Homocystinuria2 tests
Homocystinuria due to methylene tetrahydrofolate reductase deficiency12 tests
Homocystinuria due to MTHFR deficiency3 tests
HSD10 mitochondrial disease8 tests
Humerofemoral hypoplasia with radiotibial ray deficiency1 test
Huntington disease-like 12 tests
Hurler syndrome8 tests
Hurthle cell carcinoma of thyroid1 test
Hutchinson-Gilford syndrome15 tests
Hydrocephalus, nonsyndromic, autosomal recessive 11 test
Hydrocephalus, nonsyndromic, autosomal recessive 22 tests
Hydrolethalus syndrome 12 tests
Hydrolethalus syndrome 27 tests
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome5 tests
Hyper-IgE recurrent infection syndrome 111 tests
Hyper-IgE recurrent infection syndrome 3, autosomal recessive7 tests
Hyper-IgE recurrent infection syndrome 4, autosomal recessive4 tests
Hyper-IgE recurrent infection syndrome 5, autosomal recessive4 tests
Hyper-IgM syndrome type 110 tests
Hyper-IgM syndrome type 26 tests
Hyper-IgM syndrome type 310 tests
Hyper-IgM syndrome type 54 tests
Hyperaldosteronism, familial, type IV1 test
Hyperalphalipoproteinemia 11 test
Hyperammonemia, type III11 tests
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency7 tests
Hyperbiliverdinemia1 test
Hypercalcemia, infantile, 13 tests
Hypercalcemia, infantile, 26 tests
Hypercholanemia, familial 12 tests
Hypercholesterolemia, autosomal dominant, 35 tests
Hypercholesterolemia, autosomal dominant, type B5 tests
Hypercholesterolemia, familial, 19 tests
Hypercholesterolemia, familial, 44 tests
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency3 tests
Hyperekplexia 19 tests
Hyperekplexia 26 tests
Hyperekplexia 36 tests
Hyperekplexia 46 tests
Hyperglycinuria5 tests
Hyperimmunoglobulin D with periodic fever8 tests
Hyperinsulinemic hypoglycemia, familial, 12 tests
Hyperinsulinemic hypoglycemia, familial, 22 tests
Hyperinsulinemic hypoglycemia, familial, 48 tests
Hyperinsulinism due to glucokinase deficiency2 tests
Hyperinsulinism due to INSR deficiency1 test
Hyperinsulinism-hyperammonemia syndrome4 tests
Hyperlipidemia, familial combined, LPL related1 test
Hyperlipoproteinemia, type 1D1 test
Hyperlipoproteinemia, type I3 tests
Hyperlysinemia1 test
Hypermanganesemia with dystonia 26 tests
Hypermanganesemia with dystonia, polycythemia, and cirrhosis7 tests
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase7 tests
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome12 tests
Hyperostosis cranialis interna6 tests
Hyperparathyroidism2 tests
Hyperparathyroidism 14 tests
Hyperparathyroidism 2 with jaw tumors1 test
Hyperparathyroidism 41 test
Hyperphenylalaninemia due to DNAJC12 deficiency7 tests
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency2 tests
Hyperphosphatasemia tarda1 test
Hyperphosphatasemia with bone disease2 tests
Hyperphosphatasia with intellectual disability syndrome 15 tests
Hyperphosphatasia with intellectual disability syndrome 23 tests
Hyperphosphatasia with intellectual disability syndrome 32 tests
Hyperphosphatasia with intellectual disability syndrome 43 tests
Hyperphosphatasia with intellectual disability syndrome 53 tests
Hyperphosphatasia with intellectual disability syndrome 62 tests
Hyperpigmentation with or without hypopigmentation, familial progressive2 tests
Hyperproinsulinemia1 test
Hyperprolinemia1 test
Hyperthyroxinemia, dystransthyretinemic5 tests
Hyperthyroxinemia, familial dysalbuminemic1 test
Hypertrichotic osteochondrodysplasia Cantu type5 tests
HYPERTRIGLYCERIDEMIA 21 test
Hypertriglyceridemia, familial1 test
Hypertrophic cardiomyopathy 112 tests
Hypertrophic cardiomyopathy 107 tests
Hypertrophic cardiomyopathy 115 tests
Hypertrophic cardiomyopathy 124 tests
Hypertrophic cardiomyopathy 134 tests
Hypertrophic cardiomyopathy 141 test
Hypertrophic cardiomyopathy 154 tests
Hypertrophic cardiomyopathy 186 tests
Hypertrophic cardiomyopathy 26 tests
Hypertrophic cardiomyopathy 259 tests
Hypertrophic cardiomyopathy 268 tests
Hypertrophic cardiomyopathy 35 tests
Hypertrophic cardiomyopathy 45 tests
Hypertrophic cardiomyopathy 66 tests
Hypertrophic cardiomyopathy 76 tests
Hypertrophic cardiomyopathy 84 tests
Hypertrophic cardiomyopathy 910 tests
Hypertrophic osteoarthropathy, primary, autosomal recessive, 11 test
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome3 tests
Hyperuricemic nephropathy, familial juvenile type 45 tests
Hypervalinemia and hyperleucine-isoleucinemia3 tests
Hypoalphalipoproteinemia, primary, 12 tests
Hypoalphalipoproteinemia, primary, 22 tests
Hypochondroplasia3 tests
Hypogonadotropic hypogonadism 1 with or without anosmia2 tests
Hypogonadotropic hypogonadism 10 with or without anosmia1 test
Hypogonadotropic hypogonadism 11 with or without anosmia1 test
Hypogonadotropic hypogonadism 12 with or without anosmia1 test
Hypogonadotropic hypogonadism 13 with or without anosmia1 test
Hypogonadotropic hypogonadism 14 with or without anosmia1 test
Hypogonadotropic hypogonadism 15 with or without anosmia1 test
Hypogonadotropic hypogonadism 16 with or without anosmia1 test
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 anosmia6 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 anosmia1 test
Hypogonadotropic hypogonadism 3 with or without anosmia1 test
Hypogonadotropic hypogonadism 4 with or without anosmia1 test
Hypogonadotropic hypogonadism 5 with or without anosmia11 tests
Hypogonadotropic hypogonadism 6 with or without anosmia1 test
Hypogonadotropic hypogonadism 7 with or without anosmia4 tests
Hypogonadotropic hypogonadism 8 with or without anosmia1 test
Hypogonadotropic hypogonadism 9 with or without anosmia1 test
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome3 tests
Hypohidrotic X-linked ectodermal dysplasia2 tests
Hypoinsulinemic hypoglycemia and body hemihypertrophy3 tests
Hypokalemic periodic paralysis1 test
Hypokalemic periodic paralysis, type 110 tests
Hypokalemic periodic paralysis, type 27 tests
Hypomagnesemia, seizures, and intellectual disability 14 tests
Hypomagnesemia, seizures, and intellectual disability 23 tests
Hypomyelinating leukodystrophy 101 test
Hypomyelinating leukodystrophy 113 tests
Hypomyelinating leukodystrophy 121 test
Hypomyelinating leukodystrophy 131 test
Hypomyelinating leukodystrophy 22 tests
Hypomyelinating leukodystrophy 31 test
Hypomyelinating leukodystrophy 44 tests
Hypomyelinating leukodystrophy 64 tests
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism2 tests
Hypomyelination and Congenital Cataract3 tests
Hypoparathyroidism, deafness, renal disease syndrome4 tests
Hypoparathyroidism, familial isolated 11 test
Hypoparathyroidism, familial isolated, 21 test
Hypoparathyroidism-retardation-dysmorphism syndrome3 tests
Hypophosphatasia3 tests
Hypophosphatemic nephrolithiasis/osteoporosis 16 tests
Hypophosphatemic nephrolithiasis/osteoporosis 21 test
Hypophosphatemic rickets, autosomal recessive, 12 tests
Hypophosphatemic rickets, autosomal recessive, 24 tests
Hypophosphatemic rickets, X-linked recessive6 tests
Hypopigmentation, organomegaly, and delayed myelination and development7 tests
Hypopigmentation-punctate palmoplantar keratoderma syndrome3 tests
Hypoplastic enamel-onycholysis-hypohidrosis syndrome1 test
Hypoplastic left heart syndrome 111 tests
Hypoplastic left heart syndrome 24 tests
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome2 tests
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration9 tests
Hypoproteinemia, hypercatabolic3 tests
Hypospadias 1, X-linked1 test
Hypospadias 2, X-linked1 test
Hypothyroidism, congenital, nongoitrous, 53 tests
Hypotonia with lactic acidemia and hyperammonemia2 tests
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome2 tests
Hypotonia, infantile, with psychomotor retardation and characteristic facies 11 test
Hypotonia, infantile, with psychomotor retardation and characteristic facies 22 tests
Hypotonia, infantile, with psychomotor retardation and characteristic facies 34 tests
Hypotrichosis 111 test
Hypotrichosis 121 test
Hypotrichosis 131 test
Hypotrichosis 141 test
Hypotrichosis 22 tests
Hypotrichosis 31 test
Hypotrichosis 61 test
Hypotrichosis 71 test
Hypotrichosis 81 test
Hypotrichosis-lymphedema-telangiectasia syndrome1 test
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome1 test
Hypouricemia, renal, 22 tests
Ichthyosis bullosa of Siemens1 test
Ichthyosis hystrix of Curth-Macklin2 tests
Ichthyosis prematurity syndrome2 tests
Ichthyosis, congenital, autosomal recessive 131 test
Ichthyosis, congenital, autosomal recessive 141 test
Ichthyosis, hystrix-like, with hearing loss3 tests
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features2 tests
Idiopathic basal ganglia calcification 13 tests
Idiopathic CD4 lymphocytopenia1 test
Idiopathic hypereosinophilic syndrome1 test
IFAP syndrome with or without BRESHECK syndrome4 tests
IgE responsiveness, atopic5 tests
IL21-related infantile inflammatory bowel disease7 tests
IMAGe syndrome6 tests
Imerslund-Grasbeck syndrome type 16 tests
Imerslund-Grasbeck syndrome type 26 tests
Iminoglycinuria5 tests
Immunodeficiency 1043 tests
Immunodeficiency 11b with atopic dermatitis5 tests
Immunodeficiency 149 tests
Immunodeficiency 15a3 tests
Immunodeficiency 183 tests
Immunodeficiency 193 tests
Immunodeficiency 2311 tests
Immunodeficiency 253 tests
Immunodeficiency 27A2 tests
Immunodeficiency 282 tests
Immunodeficiency 31B6 tests
Immunodeficiency 32B2 tests
Immunodeficiency 353 tests
Immunodeficiency 3611 tests
Immunodeficiency 373 tests
Immunodeficiency 392 tests
Immunodeficiency 452 tests
Immunodeficiency 478 tests
Immunodeficiency 494 tests
Immunodeficiency 512 tests
Immunodeficiency 533 tests
Immunodeficiency 575 tests
Immunodeficiency 605 tests
Immunodeficiency 613 tests
Immunodeficiency 623 tests
Immunodeficiency 63 with lymphoproliferation and autoimmunity7 tests
Immunodeficiency 644 tests
Immunodeficiency 65, susceptibility to viral infections2 tests
Immunodeficiency 672 tests
Immunodeficiency 72 with autoinflammation2 tests
Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia7 tests
Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia7 tests
Immunodeficiency 74, COVID-19-related, X-linked2 tests
Immunodeficiency 751 test
Immunodeficiency 766 tests
Immunodeficiency 78 with autoimmunity and developmental delay4 tests
Immunodeficiency 83, susceptibility to viral infections2 tests
Immunodeficiency due to CD25 deficiency7 tests
Immunodeficiency, common variable, 17 tests
Immunodeficiency, common variable, 104 tests
Immunodeficiency, common variable, 124 tests
Immunodeficiency, common variable, 145 tests
Immunodeficiency, common variable, 210 tests
Immunodeficiency, common variable, 35 tests
Immunodeficiency, common variable, 44 tests
Immunodeficiency, common variable, 53 tests
Immunodeficiency, common variable, 65 tests
Immunodeficiency, common variable, 74 tests
Immunodeficiency, developmental delay, and hypohomocysteinemia4 tests
Immunodeficiency-centromeric instability-facial anomalies syndrome 14 tests
Immunodeficiency-centromeric instability-facial anomalies syndrome 24 tests
Immunodeficiency-centromeric instability-facial anomalies syndrome 34 tests
Immunodeficiency-centromeric instability-facial anomalies syndrome 44 tests
Immunoglobulin A deficiency 25 tests
Immunoglobulin-mediated membranoproliferative glomerulonephritis4 tests
Immunoskeletal dysplasia with neurodevelopmental abnormalities6 tests
Inborn mitochondrial myopathy2 tests
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 24 tests
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 14 tests
Infantile bilateral striatal necrosis1 test
Infantile cerebellar-retinal degeneration4 tests
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly4 tests
Infantile convulsions and choreoathetosis4 tests
Infantile cortical hyperostosis4 tests
Infantile GM1 gangliosidosis11 tests
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency2 tests
Infantile hypophosphatasia3 tests
Infantile liver failure syndrome 26 tests
Infantile liver failure syndrome 31 test
Infantile nephronophthisis7 tests
Infantile nephropathic cystinosis1 test
Infantile neuroaxonal dystrophy9 tests
Infantile onset spinocerebellar ataxia8 tests
Infantile-onset ascending hereditary spastic paralysis4 tests
Infantile-onset periodic fever-panniculitis-dermatosis syndrome3 tests
Infantile-onset X-linked spinal muscular atrophy2 tests
Inflammatory bowel disease 15 tests
Inflammatory bowel disease 131 test
Inflammatory bowel disease 172 tests
Inflammatory bowel disease 255 tests
Inflammatory bowel disease 285 tests
Inflammatory bowel disease 305 tests
Inflammatory bowel disease, immunodeficiency, and encephalopathy7 tests
Inflammatory skin and bowel disease, neonatal, 15 tests
Inflammatory skin and bowel disease, neonatal, 21 test
Inherited Creutzfeldt-Jakob disease2 tests
Inherited prion disease1 test
Inherited susceptibility to asthma1 test
Inosine triphosphatase deficiency3 tests
Insulin-dependent diabetes mellitus secretory diarrhea syndrome7 tests
Insulin-resistant diabetes mellitus AND acanthosis nigricans1 test
Intellectual developmental disorder 60 with seizures1 test
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures2 tests
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities1 test
Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies4 tests
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold1 test
Intellectual developmental disorder with paroxysmal dyskinesia or seizures1 test
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies1 test
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities4 tests
Intellectual developmental disorder, X-linked 1082 tests
Intellectual disability2 tests
Intellectual disability, autosomal dominant 13 tests
Intellectual disability, autosomal dominant 135 tests
Intellectual disability, autosomal dominant 144 tests
Intellectual disability, autosomal dominant 155 tests
Intellectual disability, autosomal dominant 166 tests
Intellectual disability, autosomal dominant 204 tests
Intellectual disability, autosomal dominant 223 tests
Intellectual disability, autosomal dominant 243 tests
Intellectual disability, autosomal dominant 273 tests
Intellectual disability, autosomal dominant 294 tests
Intellectual disability, autosomal dominant 302 tests
Intellectual disability, autosomal dominant 382 tests
Intellectual disability, autosomal dominant 413 tests
Intellectual disability, autosomal dominant 422 tests
Intellectual disability, autosomal dominant 432 tests
Intellectual disability, autosomal dominant 461 test
Intellectual disability, autosomal dominant 472 tests
Intellectual disability, autosomal dominant 53 tests
Intellectual disability, autosomal dominant 501 test
Intellectual disability, autosomal dominant 542 tests
Intellectual disability, autosomal dominant 55, with seizures4 tests
Intellectual disability, autosomal dominant 563 tests
Intellectual disability, autosomal dominant 65 tests
Intellectual disability, autosomal dominant 84 tests
Intellectual disability, autosomal dominant 99 tests
Intellectual disability, autosomal recessive 123 tests
Intellectual disability, autosomal recessive 135 tests
Intellectual disability, autosomal recessive 341 test
Intellectual disability, autosomal recessive 423 tests
Intellectual disability, autosomal recessive 461 test
Intellectual disability, autosomal recessive 52 tests
Intellectual disability, autosomal recessive 534 tests
Intellectual disability, autosomal recessive 611 test
Intellectual disability, autosomal recessive 72 tests
Intellectual disability, X-linked 16 tests
Intellectual disability, X-linked 1024 tests
Intellectual disability, X-linked 1062 tests
Intellectual disability, X-linked 195 tests
Intellectual disability, X-linked 211 test
Intellectual disability, X-linked 302 tests
Intellectual disability, X-linked 494 tests
Intellectual disability, X-linked 501 test
Intellectual disability, X-linked 722 tests
Intellectual disability, X-linked 932 tests
Intellectual disability, X-linked 992 tests
Intellectual disability, X-linked 99, syndromic, female-restricted2 tests
Intellectual disability, X-linked syndromic, Turner type1 test
Intellectual disability, X-linked, syndromic 333 tests
Intellectual disability, X-linked, with or without seizures, arx-related7 tests
Intellectual disability, X-linked, with panhypopituitarism2 tests
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome3 tests
Intellectual disability-epilepsy-extrapyramidal syndrome3 tests
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency3 tests
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome2 tests
Intellectual disability-hypotonic facies syndrome, X-linked, 17 tests
Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome3 tests
Intellectual disability-severe speech delay-mild dysmorphism syndrome2 tests
Interleukin 6, serum level of, quantitative trait locus4 tests
Interstitial lung disease 210 tests
Interstitial lung disease due to ABCA3 deficiency2 tests
Intervertebral disc disorder5 tests
Intestinal hypomagnesemia 13 tests
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency3 tests
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked9 tests
Intracerebral hemorrhage16 tests
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency5 tests
Irido-corneo-trabecular dysgenesis6 tests
Irinotecan response1 test
Iron-refractory iron deficiency anemia1 test
Ischemic stroke2 tests
Isolated congenital digital clubbing1 test
Isolated congenital megalocornea1 test
Isolated coronal synostosis1 test
Isolated cryptophthalmia4 tests
Isolated focal cortical dysplasia type II9 tests
Isolated focal non-epidermolytic palmoplantar keratoderma2 tests
Isolated growth hormone deficiency type IB1 test
Isolated growth hormone deficiency, type 41 test
Isolated lutropin deficiency1 test
Isolated microphthalmia 21 test
Isolated microphthalmia 31 test
Isolated microphthalmia 42 tests
Isolated microphthalmia 53 tests
Isolated microphthalmia 62 tests
Isolated microphthalmia 81 test
Isolated neonatal sclerosing cholangitis6 tests
Isolated Nonsyndromic Congenital Heart Disease/Defects1 test
Isolated optic nerve hypoplasia6 tests
Isolated sedoheptulokinase deficiency2 tests
Isovaleryl-CoA dehydrogenase deficiency9 tests
Jaberi-Elahi syndrome3 tests
Jackson-Weiss syndrome6 tests
Jalili syndrome1 test
Jawad syndrome2 tests
Jervell and Lange-Nielsen syndrome1 test
Jervell and Lange-Nielsen syndrome 13 tests
Jervell and Lange-Nielsen syndrome 24 tests
Jeune thoracic dystrophy2 tests
Johanson-Blizzard syndrome2 tests
Joint laxity, short stature, and myopia1 test
Joubert syndrome3 tests
Joubert syndrome 15 tests
Joubert syndrome 1012 tests
Joubert syndrome 135 tests
Joubert syndrome 145 tests
Joubert syndrome 154 tests
Joubert syndrome 164 tests
Joubert syndrome 176 tests
Joubert syndrome 185 tests
Joubert syndrome 211 tests
Joubert syndrome 204 tests
Joubert syndrome 217 tests
Joubert syndrome 224 tests
Joubert syndrome 236 tests
Joubert syndrome 243 tests
Joubert syndrome 253 tests
Joubert syndrome 272 tests
Joubert syndrome 286 tests
Joubert syndrome 38 tests
Joubert syndrome 301 test
Joubert syndrome 312 tests
Joubert syndrome 321 test
Joubert syndrome 351 test
Joubert syndrome 382 tests
Joubert syndrome 512 tests
Joubert syndrome 69 tests
Joubert syndrome 710 tests
Joubert syndrome 84 tests
Joubert syndrome 98 tests
Joubert syndrome with renal defect10 tests
Juberg-Hayward syndrome2 tests
Junctional epidermolysis bullosa gravis of Herlitz1 test
Junctional epidermolysis bullosa with pyloric atresia6 tests
Junctional epidermolysis bullosa, non-Herlitz type6 tests
Juvenile (Subacute) Hexosaminidase A Deficiency1 test
Juvenile amyotrophic lateral sclerosis1 test
Juvenile myelomonocytic leukemia15 tests
Juvenile nephropathic cystinosis8 tests
Juvenile onset Parkinson disease 19A2 tests
Juvenile polyposis syndrome4 tests
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome14 tests
Juvenile primary lateral sclerosis4 tests
Juvenile retinoschisis3 tests
Kabuki syndrome 111 tests
Kabuki syndrome 210 tests
Kahrizi syndrome4 tests
Kartagener syndrome5 tests
Karyomegalic interstitial nephritis1 test
KBG syndrome4 tests
Kennedy disease1 test
Keppen-Lubinsky syndrome1 test
Keratitis fugax hereditaria5 tests
Keratoconus 12 tests
Keratosis follicularis1 test
Keratosis follicularis spinulosa decalvans, X-linked4 tests
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome6 tests
Keratosis palmoplantaris striata 27 tests
Keratosis palmoplantaris striata 32 tests
Ketoacidosis due to monocarboxylate transporter-1 deficiency5 tests
Keutel syndrome3 tests
Kilquist syndrome2 tests
Kindler syndrome3 tests
Kleefstra syndrome 16 tests
Kleefstra syndrome 21 test
Klinefelter syndrome3 tests
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome5 tests
Klippel-Feil syndrome 1, autosomal dominant2 tests
Klippel-Feil syndrome 2, autosomal recessive2 tests
Kniest dysplasia5 tests
Knobloch syndrome4 tests
Knuckle pads, deafness AND leukonychia syndrome3 tests
Koolen-de Vries syndrome3 tests
Kostmann syndrome5 tests
Krabbe disease, atypical, due to saposin A deficiency5 tests
Kufor-Rakeb syndrome10 tests
Kugelberg-Welander disease4 tests
Kuru, susceptibility to2 tests
L-2-hydroxyglutaric aciduria5 tests
L-ferritin deficiency5 tests
Lafora disease2 tests
LAMB2-related infantile-onset nephrotic syndrome2 tests
Landau-Kleffner syndrome2 tests
Langer-Giedion syndrome1 test
Langereis blood group1 test
Large congenital melanocytic nevus6 tests
Laron-type isolated somatotropin defect2 tests
Larsen syndrome2 tests
Larsen-like syndrome, B3GAT3 type5 tests
Laryngo-onycho-cutaneous syndrome1 test
Late-onset retinal degeneration2 tests
Lateral meningocele syndrome1 test
Lathosterolosis2 tests
Lattice corneal dystrophy Type I1 test
Lattice corneal dystrophy Type III1 test
Laurence-Moon syndrome3 tests
Laurin-Sandrow syndrome1 test
Lazy leukocyte syndrome3 tests
Leber congenital amaurosis1 test
Leber congenital amaurosis 12 tests
Leber congenital amaurosis 1012 tests
Leber congenital amaurosis 112 tests
Leber congenital amaurosis 121 test
Leber congenital amaurosis 134 tests
Leber congenital amaurosis 141 test
Leber congenital amaurosis 151 test
Leber congenital amaurosis 161 test
Leber congenital amaurosis 172 tests
Leber congenital amaurosis 24 tests
Leber congenital amaurosis 31 test
Leber congenital amaurosis 41 test
Leber congenital amaurosis 53 tests
Leber congenital amaurosis 62 tests
Leber congenital amaurosis 72 tests
Leber congenital amaurosis 84 tests
Leber congenital amaurosis 92 tests
Left ventricular noncompaction 104 tests
Legg-Calve-Perthes disease5 tests
Legius syndrome5 tests
Leigh syndrome7 tests
Lenz-Majewski hyperostosis syndrome2 tests
LEOPARD syndrome 19 tests
LEOPARD syndrome 27 tests
LEOPARD syndrome 36 tests
Leprechaunism syndrome1 test
Lesch-Nyhan syndrome5 tests
Lethal acantholytic epidermolysis bullosa7 tests
Lethal congenital contracture syndrome2 tests
Lethal congenital contracture syndrome 71 test
Lethal congenital glycogen storage disease of heart5 tests
Lethal Kniest-like syndrome1 test
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome1 test
Lethal multiple pterygium syndrome3 tests
Lethal osteosclerotic bone dysplasia3 tests
Lethal polymalformative syndrome, Boissel type1 test
Lethal tight skin contracture syndrome16 tests
Leucine-induced hypoglycemia2 tests
Leukocyte adhesion deficiency 16 tests
Leukocyte adhesion deficiency 34 tests
Leukocyte adhesion deficiency type II5 tests
Leukodystrophy and acquired microcephaly with or without dystonia;1 test
Leukodystrophy, hypomyelinating, 141 test
Leukodystrophy, hypomyelinating, 161 test
Leukodystrophy, hypomyelinating, 171 test
Leukodystrophy, hypomyelinating, 181 test
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome3 tests
Leukoencephalopathy with calcifications and cysts1 test
Leukoencephalopathy with mild cerebellar ataxia and white matter edema2 tests
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate2 tests
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome2 tests
Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome1 test
Leukoencephalopathy, progressive, with ovarian failure2 tests
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome5 tests
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome2 tests
Levy-Hollister syndrome3 tests
Lewy body dementia6 tests
Leydig cell agenesis1 test
Li-Fraumeni syndrome17 tests
Li-Fraumeni syndrome 126 tests
Li-Fraumeni syndrome 210 tests
Liang-Wang syndrome5 tests
Liberfarb syndrome1 test
Lichtenstein-Knorr syndrome1 test
Liddle syndrome 11 test
Liddle syndrome 21 test
Liddle syndrome 31 test
Limb-girdle muscular dystrophy2 tests
Limb-girdle muscular dystrophy due to POMK deficiency9 tests
Limb-mammary syndrome6 tests
Linear nevus sebaceous syndrome8 tests
Linear skin defects with multiple congenital anomalies 15 tests
Linear skin defects with multiple congenital anomalies 22 tests
Linear skin defects with multiple congenital anomalies 34 tests
Lipase deficiency, combined1 test
Lipoic acid synthetase deficiency8 tests
Lipoyl transferase 1 deficiency6 tests
Lissencephaly 41 test
Lissencephaly 7 with cerebellar hypoplasia1 test
Lissencephaly 82 tests
Lissencephaly 9 with complex brainstem malformation1 test
Lissencephaly due to LIS1 mutation4 tests
Lissencephaly due to TUBA1A mutation4 tests
Lissencephaly type 1 due to doublecortin gene mutation2 tests
Loeys-Dietz syndrome 19 tests
Loeys-Dietz syndrome 29 tests
Loeys-Dietz syndrome 43 tests
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency10 tests
Long QT syndrome1 test
Long QT syndrome 15 tests
Long QT syndrome 143 tests
Long QT syndrome 153 tests
Long QT syndrome 162 tests
Long QT syndrome 25 tests
Long QT syndrome 36 tests
Long QT syndrome 54 tests
Long QT syndrome 61 test
Long qt syndrome 86 tests
Long QT syndrome 96 tests
Low phospholipid associated cholelithiasis2 tests
Lowe syndrome10 tests
Lower motor neuron syndrome with late-adult onset6 tests
Lower urinary tract obstruction, congenital1 test
Lowry-Wood syndrome5 tests
Lucey-Driscoll syndrome3 tests
Lung cancer11 tests
Lung carcinoma2 tests
Lung disease, immunodeficiency, and chromosome breakage syndrome;4 tests
Luscan-Lumish syndrome3 tests
Lymphangiomyomatosis7 tests
Lymphatic malformation 32 tests
Lymphatic malformation 62 tests
Lymphatic malformation 71 test
Lymphoma, non-Hodgkin, familial5 tests
Lymphoproliferative syndrome 17 tests
Lymphoproliferative syndrome 28 tests
Lynch syndrome14 tests
Lynch syndrome 120 tests
Lynch syndrome 413 tests
Lynch syndrome 513 tests
Lynch syndrome 815 tests
Lysinuric protein intolerance12 tests
Lysosomal acid lipase deficiency12 tests
Macrocephaly1 test
Macrocephaly, dysmorphic facies, and psychomotor retardation2 tests
Macrocephaly-autism syndrome9 tests
Macrocephaly-developmental delay syndrome2 tests
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome5 tests
Macrocephaly/megalencephaly syndrome, autosomal recessive2 tests
Macroglobulinemia, Waldenstrom, 12 tests
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss5 tests
Macrothrombocytopenia, isolated, 1, autosomal dominant2 tests
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome6 tests
Macular corneal dystrophy4 tests
Macular degeneration, age-related, 33 tests
Macular degeneration, early-onset2 tests
Macular degeneration, X-linked atrophic5 tests
Macular dystrophy with central cone involvement11 tests
Majeed syndrome7 tests
Major depressive disorder4 tests
Malan overgrowth syndrome3 tests
Malaria, susceptibility to10 tests
Malignant hyperthermia of anesthesia1 test
Malignant hyperthermia, susceptibility to, 16 tests
Malignant hyperthermia, susceptibility to, 56 tests
Malignant melanoma of skin2 tests
Malignant neoplasm of brain2 tests
Malignant neoplasm of endocrine gland2 tests
Malignant rhabdoid tumor, somatic1 test
Malignant tumor of esophagus12 tests
Malignant tumor of kidney2 tests
Malignant tumor of prostate14 tests
Malignant tumor of testis2 tests
Malignant tumor of urinary bladder14 tests
Mandibular hypoplasia-deafness-progeroid syndrome5 tests
Mandibuloacral dysplasia with type A lipodystrophy15 tests
Mandibuloacral dysplasia with type B lipodystrophy2 tests
Mandibulofacial dysostosis with alopecia2 tests
Mandibulofacial dysostosis-microcephaly syndrome3 tests
Maple syrup urine disease13 tests
Maple syrup urine disease type 1A1 test
Maple syrup urine disease, mild variant5 tests
Marden-Walker syndrome1 test
Marfan syndrome6 tests
Marinesco-Sjögren syndrome4 tests
Marshall syndrome5 tests
Marshall-Smith syndrome3 tests
Martsolf syndrome1 test
Martsolf syndrome 14 tests
Martsolf syndrome 23 tests
MASA syndrome5 tests
MASS syndrome5 tests
Mast syndrome2 tests
Mastocytosis1 test
Maternal phenylketonuria4 tests
Matthew-Wood syndrome1 test
Maturity-onset diabetes of the young type 12 tests
Maturity-onset diabetes of the young type 101 test
Maturity-onset diabetes of the young type 111 test
Maturity-onset diabetes of the young type 132 tests
Maturity-onset diabetes of the young type 141 test
Maturity-onset diabetes of the young type 22 tests
Maturity-onset diabetes of the young type 34 tests
Maturity-onset diabetes of the young type 42 tests
Maturity-onset diabetes of the young type 62 tests
Maturity-onset diabetes of the young type 71 test
Maturity-onset diabetes of the young type 91 test
McCune-Albright syndrome9 tests
McKusick-Kaufman syndrome6 tests
Meacham syndrome6 tests
Meckel syndrome 132 tests
Meckel syndrome, type 19 tests
Meckel syndrome, type 103 tests
Meckel syndrome, type 114 tests
Meckel syndrome, type 27 tests
Meckel syndrome, type 39 tests
Meckel syndrome, type 412 tests
Meckel syndrome, type 57 tests
Meckel syndrome, type 68 tests
Meckel syndrome, type 85 tests
Meckel syndrome, type 94 tests
Meckel-Gruber syndrome3 tests
Medium-chain acyl-coenzyme A dehydrogenase deficiency13 tests
MEDNIK syndrome5 tests
Medulloblastoma13 tests
Meester-Loeys syndrome3 tests
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations2 tests
Megaconial type congenital muscular dystrophy4 tests
Megacystis-microcolon-intestinal hypoperistalsis syndrome 11 test
Megacystis-microcolon-intestinal hypoperistalsis syndrome 21 test
Megalencephalic leukoencephalopathy with subcortical cysts2 tests
Megalencephalic leukoencephalopathy with subcortical cysts 12 tests
Megalencephalic leukoencephalopathy with subcortical cysts 2A2 tests
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability2 tests
Megalencephaly-capillary malformation-polymicrogyria syndrome3 tests
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 12 tests
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 24 tests
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 32 tests
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness7 tests
Megalocornea1 test
MEGF10-Related Myopathy3 tests
MEGF8-related Carpenter syndrome4 tests
Meier-Gorlin syndrome 12 tests
Meier-Gorlin syndrome 22 tests
Meier-Gorlin syndrome 32 tests
Meier-Gorlin syndrome 42 tests
Meier-Gorlin syndrome 52 tests
Meier-Gorlin syndrome 63 tests
Meier-Gorlin syndrome 72 tests
Meier-Gorlin syndrome 82 tests
Melanoma4 tests
Melanoma and neural system tumor syndrome5 tests
Melanoma, cutaneous malignant, susceptibility to, 15 tests
Melanoma, cutaneous malignant, susceptibility to, 106 tests
Melanoma, cutaneous malignant, susceptibility to, 25 tests
Melanoma, cutaneous malignant, susceptibility to, 33 tests
Melanoma, cutaneous malignant, susceptibility to, 85 tests
Melanoma, cutaneous malignant, susceptibility to, 911 tests
Melanoma-pancreatic cancer syndrome6 tests
Melnick-Needles syndrome9 tests
Melorheostosis6 tests
MEND syndrome2 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 deficiency2 tests
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency2 tests
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency6 tests
Menke-Hennekam syndrome 16 tests
Menke-Hennekam syndrome 24 tests
Menkes kinky-hair syndrome13 tests
Meretoja syndrome3 tests
Merosin deficient congenital muscular dystrophy9 tests
Mesoaxial synostotic syndactyly with phalangeal reduction1 test
Mesothelioma, malignant11 tests
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression7 tests
Metabolic myopathy due to lactate transporter defect5 tests
Metabolic syndrome X3 tests
Metachondromatosis8 tests
Metachromatic leukodystrophy12 tests
Metaphyseal anadysplasia 21 test
Metaphyseal chondrodysplasia, Jansen type3 tests
Metaphyseal chondrodysplasia, McKusick type8 tests
Metaphyseal chondrodysplasia, Schmid type1 test
Metaphyseal chondrodysplasia, Spahr type1 test
Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome2 tests
Metaphyseal dysplasia without hypotrichosis8 tests
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome1 test
Metatropic dysplasia5 tests
Methemoglobinemia type 41 test
Methylcobalamin deficiency type cblE8 tests
Methylcobalamin deficiency type cblG9 tests
Methylcrotonyl-CoA carboxylase deficiency1 test
Methylmalonate semialdehyde dehydrogenase deficiency5 tests
Methylmalonic acidemia2 tests
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency8 tests
Methylmalonic acidemia due to transcobalamin receptor defect6 tests
Methylmalonic acidemia with homocystinuria, type cblJ8 tests
Methylmalonic acidemia with homocystinuria, type cblX7 tests
Methylmalonic aciduria and homocystinuria type cblD9 tests
Methylmalonic aciduria and homocystinuria type cblF9 tests
Methylmalonic aciduria, cblA type8 tests
Methylmalonic aciduria, cblB type8 tests
Mevalonic aciduria8 tests
MGAT2-congenital disorder of glycosylation2 tests
MHC class I deficiency3 tests
MHC class II deficiency4 tests
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant13 tests
Microcephalic osteodysplastic dysplasia, Saul-Wilson type2 tests
Microcephalic osteodysplastic primordial dwarfism type II2 tests
Microcephalic primordial dwarfism due to RTTN deficiency4 tests
Microcephalic primordial dwarfism due to ZNF335 deficiency1 test
Microcephalic primordial dwarfism, Alazami type2 tests
Microcephaly 1, primary, autosomal recessive2 tests
Microcephaly 15, primary, autosomal recessive2 tests
Microcephaly 17, primary, autosomal recessive1 test
Microcephaly 19, primary, autosomal recessive2 tests
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations2 tests
Microcephaly 3, primary, autosomal recessive2 tests
Microcephaly 5, primary, autosomal recessive2 tests
Microcephaly 6, primary, autosomal recessive2 tests
Microcephaly 7, primary, autosomal recessive1 test
Microcephaly 8, primary, autosomal recessive2 tests
Microcephaly 9, primary, autosomal recessive2 tests
Microcephaly and chorioretinopathy 12 tests
Microcephaly and chorioretinopathy 23 tests
Microcephaly and chorioretinopathy 33 tests
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability2 tests
Microcephaly, epilepsy, and diabetes syndrome1 test
Microcephaly, epilepsy, and diabetes syndrome 13 tests
Microcephaly, growth deficiency, seizures, and brain malformations2 tests
Microcephaly, growth restriction, and increased sister chromatid exchange 21 test
Microcephaly, normal intelligence and immunodeficiency11 tests
Microcephaly, seizures, and developmental delay3 tests
Microcephaly, short stature, and impaired glucose metabolism 13 tests
Microcephaly, short stature, and impaired glucose metabolism 21 test
Microcephaly, short stature, and limb abnormalities1 test
Microcephaly-capillary malformation syndrome3 tests
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome2 tests
Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome3 tests
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome4 tests
Microcephaly-micromelia syndrome1 test
Microcephaly-thin corpus callosum-intellectual disability syndrome1 test
Microcornea-myopic chorioretinal atrophy2 tests
Microcytic anemia with liver iron overload1 test
Microphthalmia2 tests
Microphthalmia with brain and digit anomalies6 tests
Microphthalmia with limb anomalies2 tests
Microphthalmia, isolated, with coloboma 104 tests
Microphthalmia, isolated, with coloboma 31 test
Microphthalmia, isolated, with coloboma 53 tests
Microphthalmia, isolated, with coloboma 62 tests
Microphthalmia, isolated, with coloboma 71 test
Microphthalmia, isolated, with coloboma 91 test
Microphthalmia, syndromic 16 tests
Microphthalmia, syndromic 111 test
Microphthalmia, syndromic 121 test
Microspherophakia2 tests
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma2 tests
Microvascular complications of diabetes, susceptibility to, 34 tests
Microvascular complications of diabetes, susceptibility to, 44 tests
Microvascular complications of diabetes, susceptibility to, 72 tests
Migraine with or without aura, susceptibility to, 12 tests
Migraine, familial hemiplegic, 16 tests
Migraine, familial hemiplegic, 23 tests
Migraine, familial hemiplegic, 34 tests
Miller syndrome2 tests
MIRAGE syndrome5 tests
Mirror movements 21 test
Mismatch repair cancer syndrome 26 tests
Mismatch repair cancer syndrome 36 tests
Mismatch repair cancer syndrome 46 tests
Mitchell syndrome6 tests
Mitochondrial complex 1 deficiency, nuclear type 101 test
Mitochondrial complex 1 deficiency, nuclear type 112 tests
Mitochondrial complex 1 deficiency, nuclear type 122 tests
Mitochondrial complex 1 deficiency, nuclear type 132 tests
Mitochondrial complex 1 deficiency, nuclear type 142 tests
Mitochondrial complex 1 deficiency, nuclear type 151 test
Mitochondrial complex 1 deficiency, nuclear type 162 tests
Mitochondrial complex 1 deficiency, nuclear type 172 tests
Mitochondrial complex 1 deficiency, nuclear type 182 tests
Mitochondrial complex 1 deficiency, nuclear type 192 tests
Mitochondrial complex 1 deficiency, nuclear type 22 tests
Mitochondrial complex 1 deficiency, nuclear type 213 tests
Mitochondrial complex 1 deficiency, nuclear type 222 tests
Mitochondrial complex 1 deficiency, nuclear type 232 tests
Mitochondrial complex 1 deficiency, nuclear type 242 tests
Mitochondrial complex 1 deficiency, nuclear type 252 tests
Mitochondrial complex 1 deficiency, nuclear type 261 test
Mitochondrial complex 1 deficiency, nuclear type 272 tests
Mitochondrial complex 1 deficiency, nuclear type 281 test
Mitochondrial complex 1 deficiency, nuclear type 292 tests
Mitochondrial complex 1 deficiency, nuclear type 32 tests
Mitochondrial complex 1 deficiency, nuclear type 304 tests
Mitochondrial complex 1 deficiency, nuclear type 312 tests
Mitochondrial complex 1 deficiency, nuclear type 322 tests
Mitochondrial complex 1 deficiency, nuclear type 332 tests
Mitochondrial complex 1 deficiency, nuclear type 42 tests
Mitochondrial complex 1 deficiency, nuclear type 52 tests
Mitochondrial complex 1 deficiency, nuclear type 62 tests
Mitochondrial complex 1 deficiency, nuclear type 72 tests
Mitochondrial complex 1 deficiency, nuclear type 82 tests
Mitochondrial complex 1 deficiency, nuclear type 92 tests
Mitochondrial complex 2 deficiency, nuclear type 21 test
Mitochondrial complex 2 deficiency, nuclear type 33 tests
Mitochondrial complex 2 deficiency, nuclear type 43 tests
Mitochondrial complex 4 deficiency, nuclear type 102 tests
Mitochondrial complex 4 deficiency, nuclear type 114 tests
Mitochondrial complex 4 deficiency, nuclear type 122 tests
Mitochondrial complex 4 deficiency, nuclear type 141 test
Mitochondrial complex 4 deficiency, nuclear type 152 tests
Mitochondrial complex 4 deficiency, nuclear type 211 test
Mitochondrial complex 4 deficiency, nuclear type 32 tests
Mitochondrial complex 4 deficiency, nuclear type 41 test
Mitochondrial complex 4 deficiency, nuclear type 74 tests
Mitochondrial complex 4 deficiency, nuclear type 81 test
Mitochondrial complex I deficiency, nuclear type 12 tests
Mitochondrial complex II deficiency, nuclear type 19 tests
Mitochondrial complex III deficiency nuclear type 15 tests
Mitochondrial complex III deficiency nuclear type 23 tests
Mitochondrial complex III deficiency nuclear type 31 test
Mitochondrial complex III deficiency nuclear type 41 test
Mitochondrial complex III deficiency nuclear type 52 tests
Mitochondrial complex III deficiency nuclear type 62 tests
Mitochondrial complex III deficiency nuclear type 71 test
Mitochondrial complex III deficiency nuclear type 83 tests
Mitochondrial complex III deficiency nuclear type 91 test
Mitochondrial complex V (ATP synthase) deficiency nuclear type 29 tests
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 13 tests
Mitochondrial DNA deletion syndrome with progressive myopathy5 tests
Mitochondrial DNA depletion syndrome2 tests
Mitochondrial DNA depletion syndrome 115 tests
Mitochondrial DNA depletion syndrome 113 tests
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant4 tests
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive4 tests
Mitochondrial DNA depletion syndrome 137 tests
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)6 tests
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type);2 tests
Mitochondrial DNA depletion syndrome 16 (hepatic type)5 tests
Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)3 tests
Mitochondrial DNA depletion syndrome 181 test
Mitochondrial DNA depletion syndrome 37 tests
Mitochondrial DNA depletion syndrome 4b13 tests
Mitochondrial DNA depletion syndrome 8a4 tests
Mitochondrial DNA depletion syndrome 98 tests
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria11 tests
Mitochondrial DNA depletion syndrome, myopathic form9 tests
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency5 tests
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy2 tests
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome3 tests
Mitochondrial myopathy-lactic acidosis-deafness syndrome3 tests
Mitochondrial pyruvate carrier deficiency3 tests
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency5 tests
Mitochondrial trifunctional protein deficiency11 tests
Miyoshi muscular dystrophy 15 tests
Miyoshi muscular dystrophy 37 tests
MKS1-Related Disorders2 tests
MOGS-congenital disorder of glycosylation5 tests
Monocytopenia with susceptibility to infections11 tests
Monosomy 212 tests
Monosomy 7 myelodysplasia and leukemia syndrome 16 tests
Monosomy 7 myelodysplasia and leukemia syndrome 25 tests
MORM syndrome4 tests
Mowat-Wilson syndrome5 tests
Moyamoya disease 21 test
Moyamoya disease 53 tests
Moyamoya disease with early-onset achalasia1 test
MPDU1-congenital disorder of glycosylation2 tests
MPI-congenital disorder of glycosylation3 tests
MTHFR THERMOLABILE POLYMORPHISM1 test
Mucocutaneous ulceration, chronic4 tests
Mucolipidosis2 tests
Mucolipidosis type II6 tests
Mucolipidosis type III gamma4 tests
Mucolipidosis type IV6 tests
Mucopolysaccharidosis3 tests
Mucopolysaccharidosis type 11 test
Mucopolysaccharidosis type 67 tests
Mucopolysaccharidosis type 77 tests
Mucopolysaccharidosis, MPS-I-H/S7 tests
Mucopolysaccharidosis, MPS-I-S7 tests
Mucopolysaccharidosis, MPS-II10 tests
Mucopolysaccharidosis, MPS-III-A14 tests
Mucopolysaccharidosis, MPS-III-B14 tests
Mucopolysaccharidosis, MPS-III-C13 tests
Mucopolysaccharidosis, MPS-III-D11 tests
Mucopolysaccharidosis, MPS-IV-A5 tests
Mucopolysaccharidosis, MPS-IV-B12 tests
Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders4 tests
Mucosa-associated lymphoma3 tests
Muenke syndrome4 tests
Muir-Torré syndrome17 tests
Mulibrey nanism syndrome1 test
Mullegama-Klein-Martinez syndrome4 tests
Mullerian aplasia and hyperandrogenism2 tests
Multicentric carpo-tarsal osteolysis with or without nephropathy1 test
Multicentric osteolysis nodulosis arthropathy spectrum1 test
Multiple acyl-CoA dehydrogenase deficiency15 tests
Multiple carboxylase deficiency1 test
Multiple congenital anomalies2 tests
Multiple congenital anomalies-hypotonia-seizures syndrome 15 tests
Multiple congenital anomalies-hypotonia-seizures syndrome 24 tests
Multiple congenital anomalies-hypotonia-seizures syndrome 34 tests
Multiple congenital exostosis4 tests
Multiple cutaneous and mucosal venous malformations1 test
Multiple endocrine neoplasia2 tests
Multiple endocrine neoplasia type 43 tests
Multiple endocrine neoplasia, type 111 tests
Multiple endocrine neoplasia, type 25 tests
Multiple endocrine neoplasia, type 2a8 tests
Multiple endocrine neoplasia, type 2b7 tests
Multiple epiphyseal dysplasia type 11 test
Multiple epiphyseal dysplasia type 44 tests
Multiple epiphyseal dysplasia, Al-Gazali type7 tests
Multiple epiphyseal dysplasia, Beighton type5 tests
Multiple fibrofolliculomas3 tests
Multiple gastrointestinal atresias6 tests
Multiple mitochondrial dysfunctions syndrome 16 tests
Multiple mitochondrial dysfunctions syndrome 26 tests
Multiple mitochondrial dysfunctions syndrome 37 tests
Multiple mitochondrial dysfunctions syndrome 46 tests
Multiple mitochondrial dysfunctions syndrome 52 tests
Multiple mitochondrial dysfunctions syndrome 61 test
Multiple myeloma8 tests
Multiple sclerosis, susceptibility to, 54 tests
Multiple self-healing squamous epithelioma10 tests
Multiple sulfatase deficiency11 tests
Multiple synostoses syndrome 22 tests
Multiple synostoses syndrome 32 tests
Multiple synostoses syndrome 42 tests
Multiple system atrophy3 tests
Multiple system atrophy 1, susceptibility to6 tests
Multisystemic smooth muscle dysfunction syndrome3 tests
Mungan syndrome4 tests
Muscle AMP deaminase deficiency5 tests
Muscle eye brain disease2 tests
Muscular dystrophy, limb-girdle, autosomal dominant 44 tests
Muscular dystrophy, limb-girdle, autosomal recessive 237 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 108 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 118 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 129 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 412 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 88 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A113 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A137 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A144 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A29 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A310 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A512 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A68 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A97 tests
Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 157 tests
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B19 tests
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B144 tests
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B29 tests
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B310 tests
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B412 tests
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 88 tests
Muscular dystrophy-dystroglycanopathy type B512 tests
Muscular dystrophy-dystroglycanopathy type B68 tests
Mutilating keratoderma3 tests
Myasthenic syndrome, congenital, 1B, fast-channel3 tests
Myasthenic syndrome, congenital, 225 tests
Myasthenic syndrome, congenital, 23, presynaptic5 tests
Myasthenic syndrome, congenital, 25, presynaptic4 tests
Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive1 test
Mycobacterium tuberculosis, susceptibility to3 tests
Myelodysplastic syndrome15 tests
Myeloproliferative disorder, chronic, with eosinophilia2 tests
MYH7-related late-onset scapuloperoneal muscular dystrophy7 tests
MYH7-related skeletal myopathy7 tests
Myhre syndrome7 tests
Myocardial infarction 12 tests
Myocardial infarction, susceptibility to4 tests
Myoclonic dystonia 114 tests
Myoclonic dystonia 263 tests
Myoclonic-atonic epilepsy3 tests
Myoclonus, familial, 24 tests
Myoclonus, intractable, neonatal6 tests
Myofibrillar myopathy 25 tests
Myofibrillar myopathy 34 tests
Myofibrillar myopathy 42 tests
Myofibrillar myopathy 58 tests
Myofibrillar myopathy 610 tests
Myofibrillar myopathy 83 tests
Myofibromatosis, infantile, 12 tests
Myofibromatosis, infantile, 21 test
Myoglobinuria, acute recurrent, autosomal recessive4 tests
Myopathy2 tests
Myopathy due to calsequestrin and SERCA1 protein overload3 tests
Myopathy with abnormal lipid metabolism8 tests
Myopathy, centronuclear, 23 tests
Myopathy, centronuclear, 53 tests
Myopathy, centronuclear, 6, with fiber-type disproportion4 tests
Myopathy, congenital, with structured cores and z-line abnormalities6 tests
Myopathy, distal, 6, adult-onset, autosomal dominant6 tests
Myopathy, distal, with rimmed vacuoles9 tests
Myopathy, epilepsy, and progressive cerebral atrophy4 tests
Myopathy, lactic acidosis, and sideroblastic anemia 15 tests
Myopathy, lactic acidosis, and sideroblastic anemia 26 tests
MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY2 tests
Myopathy, myofibrillar, 9, with early respiratory failure10 tests
Myopathy, myosin storage, autosomal recessive7 tests
Myopathy, proximal, and ophthalmoplegia2 tests
Myopathy, reducing body, X-linked, childhood-onset7 tests
Myopathy, reducing body, X-linked, early-onset, severe7 tests
Myopathy, tubular aggregate, 19 tests
Myopathy, tubular aggregate, 26 tests
Myopia 66 tests
Myopia, high, with cataract and vitreoretinal degeneration1 test
Myosclerosis5 tests
Myosin storage myopathy7 tests
MYPN-related myopathy3 tests
NAD(P)HX dehydratase deficiency1 test
Naegeli-Franceschetti-Jadassohn syndrome2 tests
Nager syndrome2 tests
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome3 tests
Nail-patella syndrome4 tests
Nail-patella-like renal disease3 tests
Namaqualand hip dysplasia5 tests
Nance-Horan syndrome1 test
Nanophthalmos 23 tests
Nasopharyngeal carcinoma7 tests
Navajo neurohepatopathy7 tests
Naxos disease7 tests
NDE1-related microhydranencephaly1 test
Nemaline myopathy 13 tests
Nemaline myopathy 103 tests
Nemaline myopathy 27 tests
Nemaline myopathy 43 tests
Nemaline myopathy 53 tests
Nemaline myopathy 61 test
Nemaline myopathy 73 tests
Nemaline myopathy 83 tests
Nemaline myopathy 91 test
Neonatal acute respiratory distress due to SP-B deficiency2 tests
Neonatal diabetes mellitus with congenital hypothyroidism2 tests
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome6 tests
Neonatal ichthyosis-sclerosing cholangitis syndrome3 tests
Neonatal intrahepatic cholestasis due to citrin deficiency10 tests
Neonatal pseudo-hydrocephalic progeroid syndrome4 tests
Neonatal severe primary hyperparathyroidism9 tests
Neonatal-onset encephalopathy with rigidity and seizures3 tests
Neoplasm of lung1 test
Neoplasm of ovary17 tests
Neoplasm of stomach3 tests
Nephroblastoma5 tests
Nephrogenic diabetes insipidus2 tests
Nephrogenic syndrome of inappropriate antidiuresis2 tests
Nephrolithiasis susceptibility caused by SLC26A11 test
Nephronophthisis2 tests
Nephronophthisis 19 tests
Nephronophthisis 118 tests
Nephronophthisis 127 tests
Nephronophthisis 135 tests
Nephronophthisis 148 tests
Nephronophthisis 159 tests
Nephronophthisis 164 tests
Nephronophthisis 185 tests
Nephronophthisis 196 tests
Nephronophthisis 202 tests
Nephronophthisis 38 tests
Nephronophthisis 46 tests
Nephronophthisis 74 tests
Nephronophthisis 81 test
Nephronophthisis 94 tests
Nephronophthisis-like nephropathy 14 tests
NEPHRONOPHTHISIS-LIKE NEPHROPATHY 21 test
Nephropathic cystinosis8 tests
Nephrotic syndrome2 tests
Nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome4 tests
Nephrotic syndrome 145 tests
Nephrotic syndrome 152 tests
Nephrotic syndrome 164 tests
Nephrotic syndrome, type 102 tests
Nephrotic syndrome, type 112 tests
Nephrotic syndrome, type 122 tests
Nephrotic syndrome, type 132 tests
Nephrotic syndrome, type 172 tests
Nephrotic syndrome, type 181 test
Nephrotic syndrome, type 192 tests
Nephrotic syndrome, type 22 tests
Nephrotic syndrome, type 201 test
Nephrotic syndrome, type 32 tests
Nephrotic syndrome, type 46 tests
Nephrotic syndrome, type 62 tests
Nephrotic syndrome, type 82 tests
Nephrotic syndrome, type 95 tests
Netherton syndrome7 tests
Neu-Laxova syndrome 18 tests
Neu-Laxova syndrome 26 tests
Neural tube defects, folate-sensitive17 tests
Neuroblastoma4 tests
Neuroblastoma, susceptibility to, 24 tests
Neuroblastoma, susceptibility to, 34 tests
Neurocutaneous melanocytosis5 tests
Neurodegeneration with ataxia and late-onset optic atrophy5 tests
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset9 tests
Neurodegeneration with brain iron accumulation 2B9 tests
Neurodegeneration with brain iron accumulation 47 tests
Neurodegeneration with brain iron accumulation 59 tests
Neurodegeneration with brain iron accumulation 67 tests
Neurodegeneration with brain iron accumulation 74 tests
Neurodegeneration with brain iron accumulation 83 tests
Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities1 test
Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia2 tests
Neurodevelopmental disorder and language delay with or without structural brain abnormalities1 test
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity2 tests
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter3 tests
Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies1 test
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures3 tests
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies1 test
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies2 tests
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination2 tests
Neurodevelopmental disorder with involuntary movements5 tests
Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy2 tests
Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination1 test
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies2 tests
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features3 tests
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures3 tests
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart3 tests
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive4 tests
Neurodevelopmental disorder with poor language and loss of hand skills2 tests
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies2 tests
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities2 tests
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements1 test
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities1 test
Neurodevelopmental disorder with visual defects and brain anomalies5 tests
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures3 tests
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation1 test
Neuroendocrine neoplasm2 tests
Neuroferritinopathy5 tests
Neurofibromatosis, familial spinal12 tests
Neurofibromatosis, type 117 tests
Neurofibromatosis, type 27 tests
Neurofibromatosis-Noonan syndrome12 tests
Neurogenic scapuloperoneal syndrome, Kaeser type10 tests
Neurohypophyseal diabetes insipidus1 test
Neuronal ceroid lipofuscinosis2 tests
Neuronal ceroid lipofuscinosis 19 tests
Neuronal ceroid lipofuscinosis 108 tests
Neuronal ceroid lipofuscinosis 112 tests
Neuronal ceroid lipofuscinosis 23 tests
Neuronal ceroid lipofuscinosis 312 tests
Neuronal ceroid lipofuscinosis 510 tests
Neuronal ceroid lipofuscinosis 711 tests
Neuronal ceroid lipofuscinosis 88 tests
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant8 tests
Neuronopathy, distal hereditary motor, type 2A3 tests
Neuronopathy, distal hereditary motor, type 2B3 tests
Neuronopathy, distal hereditary motor, type 2D2 tests
Neuronopathy, distal hereditary motor, type 5A6 tests
Neuronopathy, distal hereditary motor, type 5B5 tests
Neuronopathy, distal hereditary motor, type 5C1 test
Neuronopathy, distal hereditary motor, type 7A4 tests
Neuronopathy, distal hereditary motor, type 7B6 tests
Neuropathy, congenital hypomyelinating, 24 tests
Neuropathy, congenital hypomyelinating, 31 test
Neuropathy, hereditary motor and sensory, type 6B4 tests
Neuropathy, hereditary sensory and autonomic, type 1A2 tests
Neuropathy, hereditary sensory and autonomic, type 1C2 tests
Neuropathy, hereditary sensory and autonomic, type 2A10 tests
Neuropathy, hereditary sensory and autonomic, type 2B2 tests
Neuropathy, hereditary sensory, type 1D4 tests
Neuropathy, hereditary sensory, type 1F2 tests
Neuropathy, hereditary sensory, type 2C9 tests
Neutral 1 amino acid transport defect5 tests
Neutral lipid storage myopathy5 tests
Neutropenia, severe congenital, 1, autosomal dominant8 tests
Neutropenia, severe congenital, 2, autosomal dominant5 tests
Neutropenia, severe congenital, 8, autosomal dominant5 tests
Neutrophil immunodeficiency syndrome7 tests
Newfoundland cone-rod dystrophy3 tests
Nicolaides-Baraitser syndrome3 tests
Niemann-Pick disease, type A10 tests
Niemann-Pick disease, type B5 tests
Niemann-Pick disease, type C3 tests
Niemann-Pick disease, type C113 tests
Niemann-Pick disease, type C212 tests
Nifedipine response1 test
Night blindness, congenital stationary, type1i2 tests
Nijmegen breakage syndrome-like disorder2 tests
Non-acquired combined pituitary hormone deficiency with spine abnormalities3 tests
Non-ketotic hyperglycinemia13 tests
Nonarteritic anterior ischemic optic neuropathy, susceptibility to2 tests
Nonimmune chronic idiopathic neutropenia of adults5 tests
Nonpapillary renal cell carcinoma15 tests
Nonprogressive cerebellar atxia with intellectual disability1 test
Nonsyndromic congenital nail disorder 83 tests
Nonsyndromic genetic hearing loss5 tests
Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive1 test
Noonan syndrome1 test
Noonan syndrome 19 tests
Noonan syndrome 104 tests
Noonan syndrome 113 tests
Noonan syndrome 121 test
Noonan syndrome 21 test
Noonan syndrome 37 tests
Noonan syndrome 47 tests
Noonan syndrome 57 tests
Noonan syndrome 66 tests
Noonan syndrome 76 tests
Noonan syndrome 86 tests
Noonan syndrome 94 tests
Noonan syndrome with multiple lentigines1 test
Noonan syndrome-like disorder with loose anagen hair 18 tests
Noonan syndrome-like disorder with loose anagen hair 24 tests
Norman-Roberts syndrome3 tests
Normophosphatemic familial tumoral calcinosis5 tests
Norum disease3 tests
NPHP3-related Meckel-like syndrome9 tests
Nuclear pulverulent cataract1 test
Nystagmus 1, congenital, X-linked4 tests
Nystagmus 6, congenital, X-linked3 tests
O'Donnell-Luria-Rodan syndrome3 tests
Obesity8 tests
OBESITY (BMIQ12), SUSCEPTIBILITY TO3 tests
Obesity due to CEP19 deficiency4 tests
Obesity due to congenital leptin deficiency2 tests
Obesity due to leptin receptor gene deficiency2 tests
Obesity due to pro-opiomelanocortin deficiency3 tests
Obesity due to prohormone convertase I deficiency3 tests
Obesity, hyperphagia, and developmental delay3 tests
Obsessive-compulsive disorder3 tests
Occult macular dystrophy2 tests
Ocular albinism, type I3 tests
Ocular albinism, type II2 tests
Ocular cystinosis8 tests
Oculoauricular syndrome2 tests
Oculocerebrofacial syndrome, Kaufman type4 tests
Oculocutaneous albinism type 1B3 tests
Oculocutaneous albinism type 33 tests
Oculocutaneous albinism type 43 tests
Oculocutaneous albinism type 61 test
Oculodentodigital dysplasia10 tests
Oculodentodigital dysplasia, autosomal recessive10 tests
Oculofaciocardiodental syndrome5 tests
Oculomaxillofacial dysostosis1 test
Oculootoradial syndrome2 tests
OCULOSKELETODENTAL SYNDROME2 tests
Oculotrichoanal syndrome3 tests
Odonto-onycho-dermal dysplasia1 test
Ogden syndrome3 tests
Oguchi disease1 test
Oguchi disease-11 test
Olanzapine response1 test
Oligodontia-cancer predisposition syndrome8 tests
Olmsted syndrome 12 tests
Olmsted syndrome, X-linked4 tests
Omeprazole response1 test
Opioid dependence, susceptibility to, 11 test
Opsismodysplasia2 tests
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures1 test
Optic atrophy 112 tests
Optic atrophy 122 tests
Optic atrophy 38 tests
Optic atrophy 55 tests
Optic atrophy 94 tests
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy6 tests
Optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive5 tests
Optic nerve edema-splenomegaly syndrome2 tests
Ornithine aminotransferase deficiency9 tests
Ornithine carbamoyltransferase deficiency17 tests
Orofacial cleft 116 tests
Orofacial cleft 51 test
Orofacial cleft 6, susceptibility to1 test
Orofacial cleft 86 tests
Orofacial-digital syndrome IV6 tests
Orofaciodigital syndrome 162 tests
Orofaciodigital syndrome 171 test
Orofaciodigital syndrome 181 test
Orofaciodigital syndrome I11 tests
Orofaciodigital syndrome type 143 tests
Orofaciodigital syndrome type 66 tests
Orofaciodigital syndrome V1 test
Orofaciodigital syndrome XV2 tests
Orotic aciduria1 test
Osteoarthritis susceptibility 51 test
Osteoarthritis, hip1 test
Osteocraniostenosis4 tests
Osteodysplastic primordial dwarfism, type 15 tests
Osteofibrous dysplasia1 test
Osteogenesis imperfecta type 102 tests
Osteogenesis imperfecta type 112 tests
Osteogenesis imperfecta type 122 tests
Osteogenesis imperfecta type 132 tests
Osteogenesis imperfecta type 152 tests
Osteogenesis imperfecta type 162 tests
Osteogenesis imperfecta type 173 tests
Osteogenesis imperfecta type 52 tests
Osteogenesis imperfecta type 62 tests
Osteogenesis imperfecta type 74 tests
Osteogenesis imperfecta type 84 tests
Osteogenesis imperfecta type 92 tests
Osteogenesis imperfecta type I4 tests
Osteogenesis imperfecta type III4 tests
Osteogenesis imperfecta with normal sclerae, dominant form4 tests
Osteogenesis imperfecta, recessive perinatal lethal4 tests
Osteogenesis imperfecta, type 194 tests
Osteoglophonic dysplasia5 tests
Osteopathia striata with cranial sclerosis2 tests
Osteopetrosis with renal tubular acidosis5 tests
Osteoporosis1 test
Osteoporosis with pseudoglioma5 tests
OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO2 tests
Otitis media, susceptibility to1 test
Oto-palato-digital syndrome, type I9 tests
Oto-palato-digital syndrome, type II9 tests
Otofaciocervical syndrome 13 tests
Otofaciocervical syndrome 24 tests
Otospondylomegaepiphyseal dysplasia, autosomal dominant5 tests
Otospondylomegaepiphyseal dysplasia, autosomal recessive5 tests
Ovarian cancer2 tests
OVARIAN CANCER, EPITHELIAL, SOMATIC1 test
Ovarian dysgenesis 31 test
Ovarian dysgenesis 62 tests
Ovarian dysgenesis 72 tests
Ovarian dysgenesis 81 test
Overhydrated hereditary stomatocytosis2 tests
Oxoglutaricaciduria2 tests
Oxycodone response1 test
p phenotype2 tests
Pachyonychia congenita 11 test
Pachyonychia congenita 22 tests
Pachyonychia congenita 31 test
Pachyonychia congenita 41 test
Paget disease of bone 2, early-onset5 tests
Paget disease of bone 39 tests
Paget disease of bone 61 test
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome2 tests
Pallister-Hall syndrome4 tests
Palmoplantar keratoderma i, striate, focal, or diffuse5 tests
Palmoplantar keratoderma, Bothnian type2 tests
Palmoplantar keratoderma, Nagashima type2 tests
Palmoplantar keratoderma, nonepidermolytic, focal 11 test
Palmoplantar keratoderma, nonepidermolytic, focal or diffuse1 test
Palmoplantar keratoderma, punctate type 1A1 test
Palmoplantar keratoderma-deafness syndrome3 tests
Palmoplantar keratoderma-esophageal carcinoma syndrome1 test
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome2 tests
Pancreatic agenesis 12 tests
Pancreatic agenesis 23 tests
Pancreatic cancer, susceptibility to, 29 tests
Pancreatic cancer, susceptibility to, 39 tests
Pancreatic cancer, susceptibility to, 47 tests
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome2 tests
Pancreatic insufficiency-anemia-hyperostosis syndrome1 test
Pancreatic triacylglycerol lipase deficiency2 tests
Pancytopenia due to IKZF1 mutations6 tests
Pancytopenia-developmental delay syndrome5 tests
Panhypopituitarism, X-linked2 tests
Panic disorder 12 tests
Papillary renal cell carcinoma type 16 tests
Papillary thyroid carcinoma3 tests
Papillon-Lefèvre syndrome5 tests
Paragangliomas 111 tests
Paragangliomas 25 tests
Paragangliomas 311 tests
Paragangliomas 412 tests
Paragangliomas 512 tests
Paramyotonia congenita of Von Eulenburg7 tests
Parastremmatic dwarfism5 tests
Parathyroid carcinoma6 tests
Parietal foramina 11 test
Parietal foramina 21 test
Parietal foramina with cleidocranial dysplasia1 test
Parkinson disease 13, autosomal dominant, susceptibility to8 tests
Parkinson disease 171 test
Parkinson disease 22, autosomal dominant1 test
PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO2 tests
Parkinson disease 5, autosomal dominant, susceptibility to2 tests
Parkinson disease, late-onset7 tests
Parkinsonian-pyramidal syndrome1 test
Parkinsonism-dystonia, infantile, 24 tests
Paroxetine response1 test
Paroxysmal extreme pain disorder3 tests
Paroxysmal nocturnal hemoglobinuria 15 tests
Paroxysmal nocturnal hemoglobinuria 24 tests
Paroxysmal nonkinesigenic dyskinesia 14 tests
Partial albinism4 tests
Partial androgen insensitivity syndrome1 test
Partial deletion of the long arm of chromosome 112 tests
Partial deletion of the long arm of chromosome 22 tests
Partial deletion of the long arm of chromosome 42 tests
Partial deletion of the long arm of chromosome 62 tests
Partial deletion of the long arm of chromosome 82 tests
Partial deletion of the short arm of chromosome 12 tests
Partial duplication of the long arm of chromosome 122 tests
Partial duplication of the long arm of chromosome 152 tests
Partial duplication of the long arm of chromosome 192 tests
Partial duplication of the long arm of chromosome 22 tests
Partial duplication of the long arm of chromosome 32 tests
Partial duplication of the long arm of chromosome 42 tests
Partial duplication of the long arm of chromosome 72 tests
Partial duplication of the short arm of chromosome 162 tests
Partial duplication of the short arm of chromosome 22 tests
Partial duplication of the short arm of chromosome 62 tests
Partial duplication of the short arm of chromosome 72 tests
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency5 tests
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome1 test
Partial monosomy of the long arm of chromosome 102 tests
Partial trisomy of the long arm of chromosome 162 tests
Partial trisomy of the long arm of chromosome 182 tests
Partial trisomy of the long arm of chromosome 51 test
Partington syndrome7 tests
Patent ductus arteriosus 22 tests
Patterned macular dystrophy 12 tests
Patterned macular dystrophy 24 tests
Patterned macular dystrophy 31 test
PCWH syndrome4 tests
Peeling skin syndrome 13 tests
Peeling skin syndrome 52 tests
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome2 tests
PEHO-like syndrome2 tests
Pelger-Huët anomaly1 test
Pelizaeus-Merzbacher disease4 tests
Pelviscapular dysplasia2 tests
Pendred syndrome12 tests
PERCHING syndrome2 tests
Periodic fever-infantile enterocolitis-autoinflammatory syndrome7 tests
Periodontitis, aggressive 15 tests
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development3 tests
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome1 test
Periventricular heterotopia with microcephaly, autosomal recessive2 tests
Periventricular nodular heterotopia 61 test
Periventricular nodular heterotopia 72 tests
Perlman syndrome7 tests
Permanent neonatal diabetes mellitus 12 tests
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome3 tests
Peroxisome biogenesis disorder1 test
Peroxisome biogenesis disorder 10A (Zellweger)8 tests
Peroxisome biogenesis disorder 10B7 tests
Peroxisome biogenesis disorder 11A (Zellweger)8 tests
Peroxisome biogenesis disorder 11B7 tests
Peroxisome biogenesis disorder 12A (Zellweger)11 tests
Peroxisome biogenesis disorder 13A (Zellweger)11 tests
Peroxisome biogenesis disorder 14B9 tests
Peroxisome biogenesis disorder 1A (Zellweger)11 tests
Peroxisome biogenesis disorder 1B10 tests
Peroxisome biogenesis disorder 2A (Zellweger)12 tests
Peroxisome biogenesis disorder 2B11 tests
Peroxisome biogenesis disorder 3A (Zellweger)11 tests
Peroxisome biogenesis disorder 4A (Zellweger)13 tests
Peroxisome biogenesis disorder 4B12 tests
Peroxisome biogenesis disorder 5A (Zellweger)11 tests
Peroxisome biogenesis disorder 5B10 tests
Peroxisome biogenesis disorder 6A (Zellweger)11 tests
Peroxisome biogenesis disorder 6B10 tests
Peroxisome biogenesis disorder 7A (Zellweger)11 tests
Peroxisome biogenesis disorder 7B10 tests
Peroxisome biogenesis disorder 8A (Zellweger)11 tests
Peroxisome biogenesis disorder 8B10 tests
Peroxisome biogenesis disorder 9B9 tests
Peroxisome biogenesis disorder type 3B10 tests
Perrault syndrome 16 tests
Perrault syndrome 22 tests
Perrault syndrome 33 tests
Perrault syndrome 45 tests
Perrault syndrome 58 tests
Perry syndrome6 tests
Persistent fetal circulation syndrome1 test
Persistent hyperplastic primary vitreous, autosomal recessive2 tests
Persistent Mullerian duct syndrome1 test
Peters plus syndrome4 tests
Pettigrew syndrome2 tests
Peutz-Jeghers syndrome16 tests
Pfeiffer syndrome6 tests
PGM1-congenital disorder of glycosylation8 tests
PHARC syndrome3 tests
Phenylketonuria8 tests
Pheochromocytoma14 tests
PHGDH deficiency11 tests
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome3 tests
Phosphate transport defect12 tests
Phosphoenolpyruvate carboxykinase deficiency, cytosolic4 tests
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial3 tests
Phosphoribosylpyrophosphate synthetase superactivity8 tests
Phytanic acid storage disease11 tests
Pick disease3 tests
Pierpont syndrome3 tests
Pierson syndrome2 tests
Pigmentary pallidal degeneration9 tests
Pigmentary retinal dystrophy3 tests
Pigmented nodular adrenocortical disease, primary, 15 tests
Pigmented nodular adrenocortical disease, primary, 31 test
Pigmented paravenous retinochoroidal atrophy2 tests
Pili torti-deafness syndrome5 tests
Pilomatrixoma4 tests
Pitt-Hopkins syndrome5 tests
Pitt-Hopkins-like syndrome 24 tests
Pituitary adenoma 3, multiple types8 tests
Pituitary adenoma 5, multiple types3 tests
Pituitary adenoma, growth hormone-secreting, 21 test
Pituitary dependent hypercortisolism1 test
Pituitary hormone deficiency, combined, 26 tests
Pituitary hormone deficiency, combined, 64 tests
Pityriasis rubra pilaris3 tests
Plasminogen deficiency, type I3 tests
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease7 tests
Platelet-type bleeding disorder 112 tests
Platelet-type bleeding disorder 152 tests
Platelet-type bleeding disorder 162 tests
Platelet-type bleeding disorder 182 tests
Platelet-type bleeding disorder 82 tests
Platyspondylic dysplasia, Torrance type5 tests
Pleuropulmonary blastoma7 tests
PMM2-congenital disorder of glycosylation9 tests
Poikiloderma with neutropenia5 tests
Polyagglutinable erythrocyte syndrome2 tests
Polycystic kidney disease3 tests
Polycystic kidney disease 22 tests
Polycystic kidney disease 3 with or without polycystic liver disease4 tests
Polycystic kidney disease 44 tests
Polycystic kidney disease 52 tests
Polycystic kidney disease 6 with or without polycystic liver disease2 tests
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 12 tests
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 23 tests
Polycystic liver disease 13 tests
Polycystic liver disease 23 tests
Polycystic liver disease 3 with or without kidney cysts5 tests
Polycystic liver disease 4 with or without kidney cysts5 tests
Polydactyly of a triphalangeal thumb1 test
Polydactyly, postaxial, type A14 tests
Polyendocrine-polyneuropathy syndrome5 tests
Polyglandular autoimmune syndrome, type 16 tests
Polyglucosan body myopathy type 17 tests
Polyglucosan body myopathy type 25 tests
Polyhydramnios, megalencephaly, and symptomatic epilepsy3 tests
Polymicrogyria2 tests
Polymicrogyria with or without vascular-type ehlers-danlos syndrome5 tests
Polymicrogyria, bilateral perisylvian, autosomal recessive2 tests
Polyposis syndrome, hereditary mixed, 210 tests
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal1 test
Polysyndactyly 44 tests
Pontocerebellar hypoplasia type 101 test
Pontocerebellar hypoplasia type 1A5 tests
Pontocerebellar hypoplasia type 1B3 tests
Pontocerebellar hypoplasia type 2A1 test
Pontocerebellar hypoplasia type 2B1 test
Pontocerebellar hypoplasia type 2C1 test
Pontocerebellar hypoplasia type 2D2 tests
Pontocerebellar hypoplasia type 31 test
Pontocerebellar hypoplasia type 41 test
Pontocerebellar hypoplasia type 51 test
Pontocerebellar hypoplasia type 65 tests
Pontocerebellar hypoplasia type 73 tests
Pontocerebellar hypoplasia type 82 tests
Pontocerebellar hypoplasia type 93 tests
Pontocerebellar hypoplasia, type 127 tests
Pontocerebellar hypoplasia, type 1C1 test
Pontocerebellar hypoplasia, type 1D3 tests
Pontocerebellar hypoplasia, type 1E1 test
Pontoneocerebellar hypoplasia2 tests
Porencephaly 24 tests
Porencephaly-microcephaly-bilateral congenital cataract syndrome1 test
Porokeratosis 3, disseminated superficial actinic type9 tests
Porphobilinogen synthase deficiency3 tests
Porphyria1 test
Portal hypertension, noncirrhotic3 tests
Portal hypertension, noncirrhotic, 14 tests
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome4 tests
Posterior column ataxia-retinitis pigmentosa syndrome1 test
Posterior polymorphous corneal dystrophy 11 test
Posterior polymorphous corneal dystrophy 22 tests
Posterior polymorphous corneal dystrophy 31 test
Postmenopausal osteoporosis7 tests
Potassium-aggravated myotonia7 tests
Potocki-Lupski syndrome2 tests
PPARG-related familial partial lipodystrophy2 tests
Prader-Willi syndrome2 tests
Predisposition to invasive fungal disease due to CARD9 deficiency2 tests
Pregnancy loss, recurrent, susceptibility to, 12 tests
Pregnancy loss, recurrent, susceptibility to, 22 tests
Premature ovarian failure 113 tests
Premature ovarian failure 151 test
Premature ovarian failure 171 test
Premature ovarian failure 31 test
Premature ovarian failure 71 test
Preterm premature rupture of membranes2 tests
Pretibial dystrophic epidermolysis bullosa3 tests
Primary adrenocortical insufficiency2 tests
Primary CD59 deficiency5 tests
Primary ciliary dyskinesia4 tests
Primary ciliary dyskinesia 105 tests
Primary ciliary dyskinesia 115 tests
Primary ciliary dyskinesia 125 tests
Primary ciliary dyskinesia 135 tests
Primary ciliary dyskinesia 145 tests
Primary ciliary dyskinesia 155 tests
Primary ciliary dyskinesia 165 tests
Primary ciliary dyskinesia 175 tests
Primary ciliary dyskinesia 185 tests
Primary ciliary dyskinesia 194 tests
Primary ciliary dyskinesia 25 tests
Primary ciliary dyskinesia 203 tests
Primary ciliary dyskinesia 215 tests
Primary ciliary dyskinesia 225 tests
Primary ciliary dyskinesia 233 tests
Primary ciliary dyskinesia 245 tests
Primary ciliary dyskinesia 255 tests
Primary ciliary dyskinesia 265 tests
Primary ciliary dyskinesia 275 tests
Primary ciliary dyskinesia 285 tests
Primary ciliary dyskinesia 295 tests
Primary ciliary dyskinesia 35 tests
Primary ciliary dyskinesia 303 tests
Primary ciliary dyskinesia 325 tests
Primary ciliary dyskinesia 335 tests
Primary ciliary dyskinesia 343 tests
Primary ciliary dyskinesia 64 tests
Primary ciliary dyskinesia 75 tests
Primary ciliary dyskinesia 95 tests
Primary coenzyme Q10 deficiency 87 tests
Primary dilated cardiomyopathy1 test
Primary erythromelalgia3 tests
Primary failure of tooth eruption3 tests
Primary familial polycythemia due to EPO receptor mutation3 tests
Primary hyperoxaluria1 test
Primary hyperoxaluria type 33 tests
Primary hyperoxaluria, type I4 tests
Primary hyperoxaluria, type II5 tests
Primary hypomagnesemia5 tests
Primary immunodeficiency syndrome due to p14 deficiency3 tests
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency4 tests
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection4 tests
Primary myelofibrosis5 tests
Primary open angle glaucoma2 tests
Progeroid and marfanoid aspect-lipodystrophy syndrome5 tests
Progressive bulbar palsy of childhood9 tests
Progressive demyelinating neuropathy with bilateral striatal necrosis7 tests
Progressive encephalopathy with leukodystrophy due to DECR deficiency5 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 113 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 24 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 38 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 45 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 54 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 113 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 23 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 39 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 51 test
Progressive familial heart block type IB2 tests
Progressive familial heart block, type 1A5 tests
Progressive familial intrahepatic cholestasis type 11 test
Progressive familial intrahepatic cholestasis type 23 tests
Progressive familial intrahepatic cholestasis type 32 tests
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome6 tests
Progressive myoclonic epilepsy type 37 tests
Progressive myoclonic epilepsy type 67 tests
Progressive myoclonic epilepsy type 71 test
Progressive myositis ossificans3 tests
Progressive osseous heteroplasia8 tests
Progressive retinal dystrophy due to retinol transport defect4 tests
Progressive scapulohumeroperoneal distal myopathy3 tests
Progressive sclerosing poliodystrophy13 tests
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome1 test
Progressive supranuclear palsy-parkinsonism syndrome2 tests
Prolidase deficiency3 tests
Proliferative vitreoretinopathy1 test
Proline dehydrogenase deficiency4 tests
Properdin deficiency, X-linked3 tests
Propionic acidemia16 tests
Prostate cancer, hereditary, 24 tests
Prostate cancer, hereditary, 91 test
Prostate cancer/brain cancer susceptibility2 tests
Proteasome-associated autoinflammatory syndrome 14 tests
Proteasome-associated autoinflammatory syndrome 26 tests
Proteasome-associated autoinflammatory syndrome 34 tests
Proteasome-associated autoinflammatory syndrome 43 tests
Protein-losing enteropathy6 tests
Proteinuria, chronic benign6 tests
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis5 tests
Proteus syndrome2 tests
Proteus-like syndrome9 tests
Protoporphyria, erythropoietic, 14 tests
Protoporphyria, erythropoietic, 23 tests
Proximal myopathy with extrapyramidal signs7 tests
Proximal symphalangism 1A4 tests
Prune belly syndrome1 test
PSAT deficiency7 tests
Pseudo von Willebrand disease2 tests
Pseudo-Hurler polydystrophy5 tests
Pseudo-TORCH syndrome 11 test
Pseudo-TORCH syndrome 34 tests
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome1 test
Pseudohyperaldosteronism type 21 test
Pseudohypoaldosteronism type 2B1 test
Pseudohypoaldosteronism type 2C3 tests
Pseudohypoaldosteronism type 2D1 test
Pseudohypoaldosteronism type 2E2 tests
Pseudohypoparathyroidism3 tests
Pseudohypoparathyroidism type 1B8 tests
Pseudohypoparathyroidism type 1C8 tests
Pseudohypoparathyroidism type I A6 tests
Pseudopseudohypoparathyroidism8 tests
Pseudoxanthoma elasticum6 tests
Pseudoxanthoma elasticum, forme fruste2 tests
Psoriasis 13, susceptibility to2 tests
Psoriasis 23 tests
Psoriasis 7, susceptibility to2 tests
PTEN hamartoma tumor syndrome13 tests
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency8 tests
PULMONARY ALVEOLAR MICROLITHIASIS1 test
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 110 tests
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 312 tests
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 48 tests
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 52 tests
Pulmonary hypertension, neonatal, susceptibility to10 tests
Pulmonary hypertension, primary, 13 tests
Pulmonary hypertension, primary, 21 test
Pulmonary hypertension, primary, 31 test
Pulmonary hypertension, primary, 41 test
Pulmonary venoocclusive disease 1, autosomal dominant1 test
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome4 tests
Purine-nucleoside phosphorylase deficiency8 tests
PYCR1-related de Barsy syndrome2 tests
Pyknodysostosis6 tests
Pyle metaphyseal dysplasia2 tests
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome4 tests
Pyogenic bacterial infections due to MyD88 deficiency2 tests
Pyridoxal phosphate-responsive seizures7 tests
Pyridoxine-dependent epilepsy7 tests
Pyropoikilocytosis, hereditary2 tests
Pyruvate carboxylase deficiency8 tests
Pyruvate dehydrogenase complex deficiency2 tests
Pyruvate dehydrogenase E1-alpha deficiency8 tests
Pyruvate dehydrogenase E1-beta deficiency7 tests
Pyruvate dehydrogenase E2 deficiency6 tests
Pyruvate dehydrogenase E3 deficiency17 tests
Pyruvate dehydrogenase E3-binding protein deficiency7 tests
Pyruvate dehydrogenase phosphatase deficiency7 tests
Pyruvate kinase deficiency of red cells2 tests
Pyruvate kinase hyperactivity2 tests
Question mark ears, isolated1 test
RAB23-related Carpenter syndrome6 tests
Rabson-Mendenhall syndrome1 test
Radial aplasia-thrombocytopenia syndrome4 tests
Radioulnar synostosis with amegakaryocytic thrombocytopenia 23 tests
Rafiq syndrome3 tests
Rajab interstitial lung disease with brain calcifications 11 test
Rapadilino syndrome7 tests
RAPH BLOOD GROUP SYSTEM4 tests
Rapp-Hodgkin ectodermal dysplasia syndrome6 tests
RASopathy3 tests
RCBTB1-related retinopathy1 test
Recessive dystrophic epidermolysis bullosa3 tests
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome8 tests
Recurrent Neisseria infections due to factor D deficiency3 tests
Regressive spondylometaphyseal dysplasia1 test
Reis-Bucklers' corneal dystrophy1 test
Renal carnitine transport defect15 tests
Renal coloboma syndrome6 tests
Renal cysts and diabetes syndrome7 tests
Renal dysplasia and retinal aplasia4 tests
Renal dysplasia, cystic, susceptibility to3 tests
Renal hamartoma1 test
Renal hypodysplasia/aplasia 11 test
Renal hypodysplasia/aplasia 21 test
Renal hypodysplasia/aplasia 31 test
Renal hypomagnesemia 23 tests
Renal hypomagnesemia 44 tests
Renal hypomagnesemia 5 with ocular involvement5 tests
Renal hypomagnesemia 64 tests
Renal tubular acidosis with progressive nerve deafness6 tests
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss1 test
Renal tubular acidosis, distal, 4, with hemolytic anemia5 tests
Renal tubular dysgenesis2 tests
Renal tubular dysgenesis of genetic origin2 tests
Renal-hepatic-pancreatic dysplasia 17 tests
Renal-hepatic-pancreatic dysplasia 24 tests
Renpenning syndrome1 test
Respiratory papillomatosis, juvenile recurrent, congenital4 tests
Resting heart rate1 test
Reticular dysgenesis6 tests
Retinal arterial tortuosity13 tests
Retinal cone dystrophy 3A2 tests
Retinal cone dystrophy 42 tests
Retinal dystrophy and obesity1 test
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies1 test
Retinal dystrophy with leukodystrophy5 tests
Retinal dystrophy with or without macular staphyloma2 tests
Retinal macular dystrophy type 22 tests
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations11 tests
Retinitis pigmentosa10 tests
Retinitis pigmentosa 11 test
Retinitis pigmentosa 102 tests
Retinitis pigmentosa 111 test
Retinitis pigmentosa 122 tests
Retinitis pigmentosa 132 tests
Retinitis pigmentosa 141 test
Retinitis pigmentosa 171 test
Retinitis pigmentosa 181 test
Retinitis pigmentosa 192 tests
Retinitis pigmentosa 21 test
Retinitis pigmentosa 202 tests
Retinitis pigmentosa 239 tests
Retinitis pigmentosa 253 tests
Retinitis pigmentosa 264 tests
Retinitis pigmentosa 271 test
Retinitis pigmentosa 283 tests
Retinitis pigmentosa 35 tests
Retinitis pigmentosa 302 tests
Retinitis pigmentosa 311 test
Retinitis pigmentosa 321 test
Retinitis pigmentosa 331 test
Retinitis pigmentosa 351 test
Retinitis pigmentosa 361 test
Retinitis pigmentosa 371 test
Retinitis pigmentosa 381 test
Retinitis pigmentosa 393 tests
Retinitis pigmentosa 42 tests
Retinitis pigmentosa 402 tests
Retinitis pigmentosa 412 tests
Retinitis pigmentosa 422 tests
Retinitis pigmentosa 431 test
Retinitis pigmentosa 441 test
Retinitis pigmentosa 451 test
Retinitis pigmentosa 462 tests
Retinitis pigmentosa 472 tests
Retinitis pigmentosa 482 tests
Retinitis pigmentosa 491 test
Retinitis pigmentosa 502 tests
Retinitis pigmentosa 515 tests
Retinitis pigmentosa 541 test
Retinitis pigmentosa 555 tests
Retinitis pigmentosa 562 tests
Retinitis pigmentosa 571 test
Retinitis pigmentosa 581 test
Retinitis pigmentosa 597 tests
Retinitis pigmentosa 601 test
Retinitis pigmentosa 613 tests
Retinitis pigmentosa 621 test
Retinitis pigmentosa 662 tests
Retinitis pigmentosa 671 test
Retinitis pigmentosa 681 test
Retinitis pigmentosa 691 test
Retinitis pigmentosa 72 tests
Retinitis pigmentosa 701 test
Retinitis pigmentosa 718 tests
Retinitis pigmentosa 721 test
Retinitis pigmentosa 7311 tests
Retinitis pigmentosa 745 tests
Retinitis pigmentosa 751 test
Retinitis pigmentosa 7610 tests
Retinitis pigmentosa 771 test
Retinitis pigmentosa 781 test
Retinitis pigmentosa 795 tests
Retinitis pigmentosa 803 tests
Retinitis pigmentosa 813 tests
Retinitis pigmentosa 831 test
Retinitis pigmentosa 841 test
Retinitis pigmentosa 851 test
Retinitis pigmentosa 861 test
Retinitis pigmentosa 87 with choroidal involvement2 tests
Retinitis pigmentosa 882 tests
Retinitis pigmentosa and erythrocytic microcytosis8 tests
Retinitis pigmentosa with or without situs inversus1 test
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness5 tests
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome3 tests
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome1 test
Retinoblastoma7 tests
Rett syndrome6 tests
Rett syndrome, congenital variant5 tests
Revesz syndrome8 tests
Reynolds syndrome1 test
RFT1-congenital disorder of glycosylation3 tests
Rh-null, regulator type2 tests
Rhabdoid tumor predisposition syndrome 19 tests
Rhabdoid tumor predisposition syndrome 212 tests
Rhabdomyosarcoma1 test
Rhabdomyosarcoma, embryonal, 210 tests
Rheumatoid arthritis7 tests
Rhizomelic chondrodysplasia punctata1 test
Rhizomelic chondrodysplasia punctata type 113 tests
Rhizomelic chondrodysplasia punctata type 21 test
Rhizomelic chondrodysplasia punctata type 33 tests
Rhizomelic chondrodysplasia punctata type 511 tests
RHYNS syndrome7 tests
RIDDLE syndrome3 tests
Rieger anomaly1 test
Rienhoff syndrome3 tests
Right atrial isomerism2 tests
RIN2 syndrome4 tests
Ring dermoid of cornea4 tests
Rippling muscle disease 25 tests
Risperidone response1 test
Ritscher-Schinzel syndrome 12 tests
Roberts-SC phocomelia syndrome5 tests
Robinow syndrome, autosomal recessive 22 tests
Robinow-Sorauf syndrome1 test
Roifman syndrome5 tests
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome4 tests
Rothmund-Thomson syndrome1 test
Rothmund-Thomson syndrome type 24 tests
Rotor syndrome1 test
Roussy-Lévy syndrome4 tests
Rubinstein-Taybi syndrome due to CREBBP mutations7 tests
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency5 tests
Saethre-Chotzen syndrome3 tests
Saldino-Mainzer syndrome5 tests
Salla disease8 tests
Sandhoff disease12 tests
Sarcoma4 tests
Sarcotubular myopathy9 tests
Scalp-ear-nipple syndrome1 test
Scapuloperoneal spinal muscular atrophy5 tests
Schaaf-Yang syndrome2 tests
SchC6pf-Schulz-Passarge syndrome3 tests
Schimke immuno-osseous dysplasia8 tests
Schinzel phocomelia syndrome1 test
Schinzel-Giedion syndrome4 tests
Schizencephaly3 tests
Schizophrenia11 tests
Schizophrenia 43 tests
Schneckenbecken dysplasia3 tests
Schnyder crystalline corneal dystrophy1 test
Schuurs-Hoeijmakers syndrome3 tests
Schwannomatosis 111 tests
Schwannomatosis 24 tests
Schwartz-Jampel syndrome type 11 test
Sclerosteosis 11 test
Sclerosteosis 24 tests
SCOTT SYNDROME2 tests
Seborrheic keratosis3 tests
Seckel syndrome 13 tests
Seckel syndrome 102 tests
Seckel syndrome 22 tests
Seckel syndrome 42 tests
Seckel syndrome 52 tests
Seckel syndrome 62 tests
Seckel syndrome 72 tests
Seckel syndrome 85 tests
Seckel syndrome 91 test
Seizures, benign familial infantile, 24 tests
Seizures, benign familial infantile, 33 tests
Seizures, benign familial infantile, 54 tests
Seizures, benign familial neonatal, 13 tests
Seizures, benign familial neonatal, 21 test
Seizures-scoliosis-macrocephaly syndrome4 tests
Sengers syndrome5 tests
Senior-Loken syndrome 19 tests
Senior-Loken syndrome 46 tests
Senior-Loken syndrome 55 tests
Senior-Loken syndrome 611 tests
Senior-Loken syndrome 79 tests
Senior-Loken syndrome 87 tests
Senior-Loken syndrome 92 tests
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis14 tests
Septo-optic dysplasia sequence5 tests
SERKAL syndrome2 tests
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome3 tests
Severe combined immunodeficiency due to CARD11 deficiency5 tests
Severe combined immunodeficiency due to CARMIL2 deficiency6 tests
Severe combined immunodeficiency due to CORO1A deficiency3 tests
Severe combined immunodeficiency due to CTPS1 deficiency4 tests
Severe combined immunodeficiency due to DCLRE1C deficiency7 tests
Severe combined immunodeficiency due to DNA-PKcs deficiency4 tests
Severe combined immunodeficiency due to IKK2 deficiency3 tests
Severe combined immunodeficiency due to LAT deficiency3 tests
Severe combined immunodeficiency due to LCK deficiency3 tests
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency13 tests
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive9 tests
Severe congenital hypochromic anemia with ringed sideroblasts1 test
Severe dermatitis-multiple allergies-metabolic wasting syndrome5 tests
Severe early-childhood-onset retinal dystrophy2 tests
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome1 test
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome3 tests
Severe intellectual disability-progressive spastic diplegia syndrome4 tests
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome6 tests
Severe myoclonic epilepsy in infancy4 tests
Severe neonatal-onset encephalopathy with microcephaly6 tests
Severe neurodegenerative syndrome with lipodystrophy7 tests
Severe X-linked mitochondrial encephalomyopathy6 tests
Severe X-linked myotubular myopathy5 tests
Shashi-Pena syndrome2 tests
Short QT syndrome1 test
Short QT syndrome type 14 tests
Short QT syndrome type 24 tests
Short QT syndrome type 37 tests
SHORT SLEEP, FAMILIAL NATURAL, 21 test
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans2 tests
Short stature due to growth hormone qualitative anomaly1 test
Short stature due to growth hormone secretagogue receptor deficiency1 test
Short stature due to partial GHR deficiency2 tests
Short stature with microcephaly and distinctive facies3 tests
Short stature with nonspecific skeletal abnormalities3 tests
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis2 tests
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies1 test
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 11 test
Short stature, microcephaly, and endocrine dysfunction2 tests
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay4 tests
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome2 tests
Short stature-brachydactyly-obesity-global developmental delay syndrome2 tests
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome3 tests
Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome6 tests
Short stature-pituitary and cerebellar defects-small sella turcica syndrome1 test
SHORT syndrome11 tests
Short-rib thoracic dysplasia 10 with or without polydactyly9 tests
Short-rib thoracic dysplasia 11 with or without polydactyly2 tests
Short-rib thoracic dysplasia 13 with or without polydactyly4 tests
Short-rib thoracic dysplasia 14 with polydactyly7 tests
Short-rib thoracic dysplasia 15 with polydactyly1 test
Short-rib thoracic dysplasia 16 with or without polydactyly1 test
Short-rib thoracic dysplasia 18 with polydactyly3 tests
Short-rib thoracic dysplasia 19 with or without polydactyly2 tests
Short-rib thoracic dysplasia 20 with polydactyly1 test
Short-rib thoracic dysplasia 21 without polydactyly2 tests
Short-rib thoracic dysplasia 6 with or without polydactyly4 tests
Short-rib thoracic dysplasia 7 with or without polydactyly3 tests
Short-rib thoracic dysplasia 8 with or without polydactyly2 tests
Shprintzen-Goldberg syndrome2 tests
Shwachman-Diamond syndrome 15 tests
Shwachman-Diamond syndrome 25 tests
Sialic acid storage disease, severe infantile type5 tests
Sialidosis type 24 tests
Sialuria7 tests
Sick sinus syndrome 15 tests
Sick sinus syndrome 2, autosomal dominant5 tests
Sick sinus syndrome 3, susceptibility to1 test
Sideroblastic anemia 23 tests
Sideroblastic anemia 38 tests
Sifrim-Hitz-Weiss syndrome2 tests
Silver-Russell syndrome 11 test
Silver-Russell syndrome 31 test
Simpson-Golabi-Behmel syndrome type 111 tests
Simpson-Golabi-Behmel syndrome type 210 tests
Simvastatin response2 tests
SIN3A-related intellectual disability syndrome due to a point mutation2 tests
Singleton-Merten syndrome 18 tests
Singleton-Merten syndrome 23 tests
Sinoatrial node dysfunction and deafness5 tests
Sitosterolemia 15 tests
Sitosterolemia 25 tests
Sjögren-Larsson syndrome8 tests
Skeletal dysplasia, mild, with joint laxity and advanced bone age3 tests
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome2 tests
Skin fragility-woolly hair-palmoplantar keratoderma syndrome7 tests
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN3 tests
SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN2 tests
Skin/hair/eye pigmentation, variation in, 13 tests
Skin/hair/eye pigmentation, variation in, 113 tests
Skin/hair/eye pigmentation, variation in, 41 test
Skin/hair/eye pigmentation, variation in, 53 tests
Skin/hair/eye pigmentation, variation in, 83 tests
SLC35A1-congenital disorder of glycosylation2 tests
SLC35A2-congenital disorder of glycosylation4 tests
SLC39A8-CDG6 tests
Slow acetylator due to N-acetyltransferase enzyme variant2 tests
Small cell lung carcinoma3 tests
Small fiber neuropathy1 test
Smith-Lemli-Opitz syndrome13 tests
Smith-Magenis syndrome4 tests
Smith-McCort dysplasia 11 test
Smith-McCort dysplasia 21 test
Sneddon syndrome5 tests
Snowflake vitreoretinal degeneration1 test
Sodium serum level quantitative trait locus 15 tests
Solitary median maxillary central incisor syndrome3 tests
Soluble interleukin-6 receptor, serum level of, quantitative trait locus4 tests
Somatotroph adenoma1 test
Sorsby fundus dystrophy2 tests
Sotos syndrome 16 tests
Sotos syndrome 32 tests
Southeast Asian ovalocytosis5 tests
Spastic ataxia 14 tests
Spastic ataxia 23 tests
Spastic ataxia 33 tests
Spastic ataxia 42 tests
Spastic ataxia 52 tests
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy2 tests
Spastic paraplegia 52, autosomal recessive3 tests
Spastic paraplegia, intellectual disability, nystagmus, and obesity;4 tests
Spastic paraplegia-severe developmental delay-epilepsy syndrome3 tests
Spastic tetraplegia and axial hypotonia, progressive2 tests
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome3 tests
Spasticity-ataxia-gait anomalies syndrome8 tests
Specific granule deficiency 14 tests
Specific granule deficiency 24 tests
Specific language impairment 51 test
Spermatogenic failure 183 tests
Spermatogenic failure 273 tests
Spermatogenic failure 281 test
Spermatogenic failure 462 tests
Spermatogenic failure 81 test
Spermatogenic failures 501 test
Spheroid body myopathy4 tests
Sphingolipid activator protein 1 deficiency5 tests
Sphingomyelin/cholesterol lipidosis2 tests
Spinal muscular atrophy7 tests
Spinal muscular atrophy with congenital bone fractures 12 tests
Spinal muscular atrophy with congenital bone fractures 22 tests
Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant4 tests
Spinal muscular atrophy, type II4 tests
Spinal muscular atrophy, type IV4 tests
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome11 tests
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits1 test
Spinocerebellar ataxia 432 tests
Spinocerebellar ataxia 441 test
Spinocerebellar ataxia 451 test
Spinocerebellar ataxia 461 test
Spinocerebellar ataxia 481 test
Spinocerebellar ataxia type 111 test
Spinocerebellar ataxia type 131 test
Spinocerebellar ataxia type 15/164 tests
Spinocerebellar ataxia type 211 test
Spinocerebellar ataxia type 231 test
Spinocerebellar ataxia type 261 test
Spinocerebellar ataxia type 271 test
Spinocerebellar ataxia type 282 tests
Spinocerebellar ataxia type 294 tests
Spinocerebellar ataxia type 345 tests
Spinocerebellar ataxia type 351 test
Spinocerebellar ataxia type 381 test
Spinocerebellar ataxia type 401 test
Spinocerebellar ataxia type 411 test
Spinocerebellar ataxia type 421 test
Spinocerebellar ataxia type 51 test
Spinocerebellar ataxia type 66 tests
Spinocerebellar ataxia, autosomal recessive 242 tests
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 22 tests
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 31 test
Split hand-foot malformation 11 test
Split hand-foot malformation 1 with sensorineural hearing loss1 test
Split hand-foot malformation 46 tests
Split hand-foot malformation 62 tests
Split-foot malformation-mesoaxial polydactyly syndrome4 tests
Sponastrime dysplasia3 tests
Spondylo-megaepiphyseal-metaphyseal dysplasia1 test
Spondylo-ocular syndrome4 tests
Spondyloarthropathy, susceptibility to, 12 tests
Spondylocarpotarsal synostosis syndrome2 tests
Spondylocostal dysostosis 1, autosomal recessive2 tests
Spondylocostal dysostosis 2, autosomal recessive4 tests
Spondylocostal dysostosis 3, autosomal recessive4 tests
Spondylocostal dysostosis 4, autosomal recessive2 tests
Spondylocostal dysostosis 52 tests
Spondylocostal dysostosis 6, autosomal recessive2 tests
Spondyloenchondrodysplasia with immune dysregulation5 tests
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures5 tests
Spondyloepimetaphyseal dysplasia with joint laxity, type 31 test
Spondyloepimetaphyseal dysplasia with multiple dislocations1 test
Spondyloepimetaphyseal dysplasia, aggrecan type2 tests
Spondyloepimetaphyseal dysplasia, Bieganski type6 tests
Spondyloepimetaphyseal dysplasia, Genevieve type4 tests
Spondyloepimetaphyseal dysplasia, Maroteaux type5 tests
Spondyloepimetaphyseal dysplasia, Missouri type1 test
Spondyloepimetaphyseal dysplasia, PAPSS2 type3 tests
Spondyloepimetaphyseal dysplasia, Shohat type1 test
Spondyloepimetaphyseal dysplasia, Strudwick type3 tests
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome1 test
Spondyloepiphyseal dysplasia congenita5 tests
Spondyloepiphyseal dysplasia tarda2 tests
Spondyloepiphyseal dysplasia tarda, X-linked1 test
Spondyloepiphyseal dysplasia with congenital joint dislocations4 tests
Spondyloepiphyseal dysplasia, Kimberley type2 tests
Spondyloepiphyseal dysplasia, kondo-fu type2 tests
Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis1 test
Spondyloepiphyseal dysplasia, Stanescu type5 tests
Spondylometaphyseal dysplasia2 tests
Spondylometaphyseal dysplasia - Sutcliffe type7 tests
Spondylometaphyseal dysplasia, Kozlowski type5 tests
Spondylometaphyseal dysplasia, Sedaghatian type1 test
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome2 tests
Spondyloperipheral dysplasia5 tests
Spongiform encephalopathy with neuropsychiatric features2 tests
Spongy degeneration of central nervous system12 tests
SRD5A3-congenital disorder of glycosylation4 tests
SSR4-congenital disorder of glycosylation3 tests
Stapes ankylosis with broad thumbs and toes4 tests
Stargardt disease 35 tests
Stargardt disease 42 tests
STAT3-related early-onset multisystem autoimmune disease11 tests
Statin-induced myopathy1 test
Steatocystoma multiplex2 tests
Steel syndrome3 tests
Sterile multifocal osteomyelitis with periostitis and pustulosis4 tests
Sterol carrier protein 2 deficiency6 tests
Stickler syndrome type 15 tests
Stickler syndrome type 25 tests
Stickler syndrome, type 45 tests
Stickler syndrome, type 55 tests
Stickler syndrome, type I, nonsyndromic ocular5 tests
Stiff skin syndrome5 tests
Stormorken syndrome9 tests
Striatal degeneration, autosomal dominant 21 test
Striatonigral degeneration, childhood-onset4 tests
Structural brain anomalies with impaired intellectual development and craniosynostosis2 tests
STT3A-congenital disorder of glycosylation2 tests
STT3B-congenital disorder of glycosylation2 tests
Sturge-Weber syndrome1 test
Stuttering, familial persistent, 13 tests
Stuve-Wiedemann syndrome2 tests
Stüve-Wiedemann syndrome 11 test
Succinate-semialdehyde dehydrogenase deficiency9 tests
Succinyl-CoA acetoacetate transferase deficiency7 tests
Sucrase-isomaltase deficiency5 tests
Sudden cardiac failure, alcohol-induced4 tests
Sudden cardiac failure, infantile4 tests
SUDDEN INFANT DEATH SYNDROME6 tests
Sudden infant death-dysgenesis of the testes syndrome1 test
Sulfite oxidase deficiency5 tests
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A7 tests
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B7 tests
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C9 tests
Supranuclear palsy, progressive, 12 tests
Supravalvar aortic stenosis3 tests
Surfactant metabolism dysfunction, pulmonary, 22 tests
Surfactant metabolism dysfunction, pulmonary, 45 tests
Surfactant metabolism dysfunction, pulmonary, 55 tests
Susceptibility to HIV infection5 tests
Susceptibility to mononeuropathy of the median nerve, mild4 tests
Susceptibility to respiratory infections associated with CD8alpha chain mutation3 tests
Susceptibility to severe cutaneous adverse reaction5 tests
Sweeney-Cox syndrome1 test
Symmetrical dyschromatosis of extremities8 tests
Symphalangism, proximal, 1B2 tests
Symphalangism-brachydactyly syndrome4 tests
Syndactyly type 310 tests
Syndactyly type 41 test
Syndactyly type 51 test
Syndactyly-telecanthus-anogenital and renal malformations syndrome2 tests
Syndromic microphthalmia type 54 tests
Syndromic multisystem autoimmune disease due to ITCH deficiency4 tests
Syndromic X-linked intellectual disability 142 tests
Syndromic X-linked intellectual disability 342 tests
Syndromic X-linked intellectual disability 943 tests
Syndromic X-linked intellectual disability Claes-Jensen type3 tests
Syndromic X-linked intellectual disability Hedera type6 tests
Syndromic X-linked intellectual disability Lubs type5 tests
Syndromic X-linked intellectual disability Najm type4 tests
Syndromic X-linked intellectual disability Nascimento type1 test
Syndromic X-linked intellectual disability Raymond type2 tests
Syndromic X-linked intellectual disability Snyder type1 test
Synpolydactyly type 11 test
Synpolydactyly type 21 test
Systemic lupus erythematosus16 tests
Systemic lupus erythematosus, susceptibility to, 113 tests
Systemic lupus erythematosus, susceptibility to, 94 tests
T-B+ severe combined immunodeficiency due to JAK3 deficiency4 tests
T-cell immunodeficiency, congenital alopecia, and nail dystrophy3 tests
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant3 tests
Tacrolimus response1 test
Tall stature-intellectual disability-facial dysmorphism syndrome5 tests
Tall stature-scoliosis-macrodactyly of the great toes syndrome3 tests
Tangier disease2 tests
TARP syndrome2 tests
Tarsal-carpal coalition syndrome4 tests
Tay-Sachs disease21 tests
Tay-Sachs disease, b variant, adult form1 test
Tay-Sachs disease, variant AB7 tests
Teebi hypertelorism syndrome1 test
Telangiectasia, hereditary hemorrhagic, type 12 tests
Telangiectasia, hereditary hemorrhagic, type 22 tests
Telangiectasia, hereditary hemorrhagic, type 52 tests
TELO2-related intellectual disability-neurodevelopmental disorder1 test
Temple-Baraitser syndrome2 tests
Temtamy preaxial brachydactyly syndrome3 tests
Temtamy syndrome3 tests
Tenorio syndrome1 test
Terminal osseous dysplasia-pigmentary defects syndrome9 tests
Testicular anomalies with or without congenital heart disease5 tests
Testosterone 17-beta-dehydrogenase deficiency1 test
Tetraamelia syndrome 12 tests
Tetraamelia syndrome 21 test
Tetralogy of Fallot19 tests
Tetrasomy 9p2 tests
TFRC-related combined immunodeficiency5 tests
Thanatophoric dysplasia type 13 tests
Thanatophoric dysplasia, type 23 tests
Thiel-Behnke corneal dystrophy1 test
Thiopurine methyltransferase deficiency2 tests
Thiopurines, poor metabolism of, 21 test
Thrombocythemia 13 tests
Thrombocythemia 25 tests
Thrombocythemia 32 tests
Thrombocytopenia 112 tests
Thrombocytopenia 23 tests
Thrombocytopenia 43 tests
Thrombocytopenia 53 tests
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia9 tests
Thrombomodulin-related bleeding disorder5 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 dominant2 tests
Thrombophilia due to protein S deficiency, autosomal recessive2 tests
Thrombophilia due to thrombin defect14 tests
Thrombophilia, X-linked, due to factor 9 defect1 test
Thyroid cancer, nonmedullary, 13 tests
Thyroid cancer, nonmedullary, 29 tests
Thyroid dyshormonogenesis 65 tests
Thyroid gland carcinoma1 test
Thyrotoxic periodic paralysis, susceptibility to, 16 tests
Tibia, hypoplasia or aplasia of, with polydactyly1 test
Tibial muscular dystrophy10 tests
Tietz syndrome3 tests
Timothy syndrome7 tests
TMEM165-congenital disorder of glycosylation5 tests
TMEM199-CDG3 tests
TNF receptor-associated periodic fever syndrome (TRAPS)4 tests
Tobacco addiction, susceptibility to10 tests
Tooth agenesis, selective, 11 test
Tooth agenesis, selective, 31 test
Tooth agenesis, selective, 41 test
Tooth agenesis, selective, 72 tests
Tooth agenesis, selective, 82 tests
Tooth agenesis, selective, X-linked, 11 test
Toriello-Lacassie-Droste syndrome6 tests
Torsion dystonia 22 tests
Torsion dystonia 44 tests
Torsion dystonia 62 tests
Townes-Brocks syndrome 13 tests
Tracheoesophageal fistula1 test
Tramadol response1 test
Transcobalamin II deficiency11 tests
Transferrin serum level quantitative trait locus 22 tests
Transient bullous dermolysis of the newborn3 tests
Transient infantile hypertriglyceridemia and hepatosteatosis1 test
Transposition of the great arteries, dextro-looped4 tests
Treacher Collins syndrome 12 tests
Treacher Collins syndrome 22 tests
Treacher Collins syndrome 33 tests
Tremor, hereditary essential, 43 tests
Trichohepatoenteric syndrome 16 tests
Trichohepatoenteric syndrome 26 tests
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome3 tests
Trichorhinophalangeal dysplasia type I4 tests
Trichorhinophalangeal syndrome, type III4 tests
Trichothiodystrophy 1, photosensitive5 tests
Trichothiodystrophy 2, photosensitive4 tests
Trichothiodystrophy 3, photosensitive4 tests
Trichothiodystrophy 4, nonphotosensitive4 tests
Trichothiodystrophy 5, nonphotosensitive3 tests
Trichothiodystrophy 6, nonphotosensitive3 tests
Triglyceride storage disease with ichthyosis5 tests
Trigonocephaly 15 tests
Trigonocephaly 23 tests
Triosephosphate isomerase deficiency4 tests
Trisomy 10p2 tests
Trisomy 12p2 tests
Trisomy 17p2 tests
Trisomy 184 tests
Trisomy 82 tests
Trisomy 8p2 tests
Trisomy 8q2 tests
Trisomy X syndrome1 test
Troyer syndrome4 tests
Tuberous sclerosis 115 tests
Tuberous sclerosis 215 tests
Tuberous sclerosis syndrome7 tests
Tumoral calcinosis, hyperphosphatemic, familial, 13 tests
Tumoral calcinosis, hyperphosphatemic, familial, 22 tests
Tumoral calcinosis, hyperphosphatemic, familial, 32 tests
Turcot syndrome21 tests
Turner syndrome3 tests
Turnpenny-fry syndrome3 tests
TWIST1-related craniosynostosis2 tests
Type 1 diabetes mellitus 107 tests
Type 1 diabetes mellitus 128 tests
Type 1 diabetes mellitus 21 test
Type 1 diabetes mellitus 204 tests
Type 2 diabetes mellitus23 tests
Type I complement component 8 deficiency3 tests
Type II complement component 8 deficiency3 tests
Tyrosinase-negative oculocutaneous albinism3 tests
Tyrosinase-positive oculocutaneous albinism3 tests
Tyrosinemia type I14 tests
Tyrosinemia type II7 tests
Tyrosinemia type III2 tests
UDPglucose-4-epimerase deficiency4 tests
Ullrich congenital muscular dystrophy 17 tests
Ullrich congenital muscular dystrophy 27 tests
Ulnar-mammary syndrome2 tests
Unverricht-Lundborg syndrome2 tests
Upshaw-Schulman syndrome5 tests
Uric acid concentration, serum, quantitative trait locus 11 test
Urinary bladder carcinoma2 tests
Urinary tract neoplasm1 test
Urofacial syndrome type 12 tests
Uruguay Faciocardiomusculoskeletal syndrome7 tests
Usher syndrome type 15 tests
Usher syndrome type 1C5 tests
Usher syndrome type 1D7 tests
Usher syndrome type 1F3 tests
Usher syndrome type 1G3 tests
Usher syndrome type 1J3 tests
Usher syndrome type 2A7 tests
Usher syndrome type 2C3 tests
Usher syndrome type 2D3 tests
Usher syndrome type 34 tests
Usher syndrome type 3A3 tests
Usher syndrome type 3B1 test
Usher syndrome, type 1M1 test
Usher syndrome, type 43 tests
Uterine leiomyoma1 test
UV-sensitive syndrome 13 tests
UV-sensitive syndrome 23 tests
Uveal coloboma-cleft lip and palate-intellectual disability1 test
VACTERL association, X-linked, with or without hydrocephalus6 tests
VACTERL with hydrocephalus1 test
Van Buchem disease type 22 tests
Van der Woude syndrome 12 tests
Van der Woude syndrome 21 test
Van Maldergem syndrome 27 tests
Vanishing white matter disease5 tests
Variegate porphyria6 tests
Vasculitis due to ADA2 deficiency5 tests
Velocardiofacial syndrome9 tests
Venlafaxine response1 test
Ventricular fibrillation, paroxysmal familial, type 16 tests
Ventricular septal defect 15 tests
Ventricular septal defect 34 tests
VENTRICULOMEGALY AND ARTHROGRYPOSIS1 test
Ventriculomegaly-cystic kidney disease3 tests
Verapamil response1 test
Very long chain acyl-CoA dehydrogenase deficiency15 tests
Vesicoureteral reflux 21 test
Vesicoureteral reflux 32 tests
VEXAS syndrome2 tests
Vibratory urticaria2 tests
Vici syndrome5 tests
VISCERAL MYOPATHY 21 test
Vissers-Bodmer syndrome2 tests
Vitamin D hydroxylation-deficient rickets, type 1B3 tests
Vitamin D-dependent rickets type II with alopecia3 tests
Vitamin D-dependent rickets, type 1A2 tests
Vitamin D-dependent rickets, type 32 tests
Vitamin K-dependent clotting factors, combined deficiency of, type 11 test
Vitamin K-dependent clotting factors, combined deficiency of, type 21 test
Vitelliform macular dystrophy 22 tests
Vitelliform macular dystrophy 31 test
Vitelliform macular dystrophy 42 tests
Vitelliform macular dystrophy 52 tests
Vitiligo-associated multiple autoimmune disease susceptibility 14 tests
Vitreoretinopathy with phalangeal epiphyseal dysplasia3 tests
Von Hippel-Lindau syndrome12 tests
Waardenburg syndrome type 12 tests
Waardenburg syndrome type 2A3 tests
Waardenburg syndrome type 2D2 tests
Waardenburg syndrome type 2E4 tests
Waardenburg syndrome type 32 tests
Waardenburg syndrome type 4A3 tests
Waardenburg syndrome type 4B2 tests
Waardenburg syndrome type 4C4 tests
Wagner syndrome3 tests
Warburg micro syndrome 14 tests
Warburg micro syndrome 25 tests
Warburg micro syndrome 32 tests
Warburg micro syndrome 42 tests
Warburg-cinotti syndrome1 test
Warfarin response3 tests
Warfarin sensitivity, X-linked1 test
Warts, hypogammaglobulinemia, infections, and myelokathexis2 tests
Weaver syndrome4 tests
Weill-Marchesani 4 syndrome, recessive1 test
Weill-Marchesani syndrome 14 tests
Weill-Marchesani syndrome 2, dominant5 tests
Weill-Marchesani syndrome 34 tests
Welander distal myopathy2 tests
Werdnig-Hoffmann disease4 tests
Werner syndrome4 tests
WHIM syndrome 15 tests
Wieacker-Wolff syndrome2 tests
Wieacker-Wolff syndrome, female-restricted2 tests
Wiedemann-Steiner syndrome8 tests
Williams syndrome3 tests
Wilms tumor 122 tests
Wilson disease19 tests
Winchester syndrome2 tests
Wiskott-Aldrich syndrome11 tests
Wiskott-Aldrich syndrome 25 tests
Wolcott-Rallison dysplasia5 tests
Wolff-Parkinson-White pattern5 tests
Wolfram syndrome 15 tests
Wolfram syndrome 22 tests
Wolfram-like syndrome5 tests
Woodhouse-Sakati syndrome6 tests
Woolly hair, autosomal recessive 31 test
Woolly hair-palmoplantar keratoderma syndrome4 tests
Worth disease5 tests
Wrinkly skin syndrome4 tests
X-linked acrogigantism due to Xq26 microduplication1 test
X-linked agammaglobulinemia8 tests
X-linked agammaglobulinemia with growth hormone deficiency8 tests
X-linked Alport syndrome4 tests
X-linked chondrodysplasia punctata 11 test
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome1 test
X-linked complicated corpus callosum dysgenesis5 tests
X-linked cone-rod dystrophy 15 tests
X-linked cone-rod dystrophy 32 tests
X-linked distal spinal muscular atrophy type 312 tests
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia9 tests
X-linked dystonia-parkinsonism3 tests
X-linked Emery-Dreifuss muscular dystrophy9 tests
X-linked epilepsy-learning disabilities-behavior disorders syndrome2 tests
X-linked erythropoietic protoporphyria8 tests
X-linked hydrocephalus syndrome5 tests
X-linked ichthyosis with steryl-sulfatase deficiency1 test
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia9 tests
X-linked intellectual disability Cabezas type5 tests
X-linked intellectual disability with marfanoid habitus7 tests
X-linked intellectual disability, Cantagrel type2 tests
X-linked intellectual disability, van Esch type5 tests
X-linked intellectual disability-cerebellar hypoplasia syndrome2 tests
X-linked intellectual disability-psychosis-macroorchidism syndrome5 tests
X-linked lissencephaly with abnormal genitalia7 tests
X-linked lymphoproliferative disease due to SH2D1A deficiency9 tests
X-linked lymphoproliferative disease due to XIAP deficiency8 tests
X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency6 tests
X-linked mixed hearing loss with perilymphatic gusher4 tests
X-linked myopathy with excessive autophagy5 tests
X-linked myopathy with postural muscle atrophy7 tests
X-linked Opitz G/BBB syndrome1 test
X-linked parkinsonism-spasticity syndrome6 tests
X-linked recessive nephrolithiasis with renal failure5 tests
X-linked reticulate pigmentary disorder5 tests
X-linked scapuloperoneal muscular dystrophy7 tests
X-linked severe combined immunodeficiency9 tests
X-linked severe congenital neutropenia12 tests
X-linked sideroblastic anemia 18 tests
X-linked sideroblastic anemia with ataxia4 tests
X-linked spondyloepimetaphyseal dysplasia3 tests
Xanthinuria type II3 tests
Xeroderma pigmentosum group A2 tests
Xeroderma pigmentosum group B4 tests
Xeroderma pigmentosum, group C2 tests
Xeroderma pigmentosum, group D5 tests
Xeroderma pigmentosum, group F3 tests
Xeroderma pigmentosum, group G1 test
XFE progeroid syndrome3 tests
Yao syndrome5 tests
Young adult-onset distal hereditary motor neuropathy3 tests
Yunis-Varon syndrome7 tests
Zellweger spectrum disorders4 tests
Zimmermann-Laband syndrome 12 tests
ZTTK syndrome4 tests

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Certifications

CLIAHelpCertification number assigned by the Clinical Laboratory Improvement Amendments (CLIA) program to the laboratory director. Minimal field for US labs offering clinical tests. Optional field for international labs or US labs performing research tests. If pending renewal or record has not been updated, the expiration date may be in the past., Number: 05D2040778, Expiration date: 2022-11-25
CLIAHelpCertification number assigned by the Clinical Laboratory Improvement Amendments (CLIA) program to the laboratory director. Minimal field for US labs offering clinical tests. Optional field for international labs or US labs performing research tests. If pending renewal or record has not been updated, the expiration date may be in the past., Number: 05D1052995, Expiration date: 2023-04-30
CLIAHelpCertification number assigned by the Clinical Laboratory Improvement Amendments (CLIA) program to the laboratory director. Minimal field for US labs offering clinical tests. Optional field for international labs or US labs performing research tests. If pending renewal or record has not been updated, the expiration date may be in the past., Number: 22D2025627, Expiration date: 2024-08-28
CLIAHelpCertification number assigned by the Clinical Laboratory Improvement Amendments (CLIA) program to the laboratory director. Minimal field for US labs offering clinical tests. Optional field for international labs or US labs performing research tests. If pending renewal or record has not been updated, the expiration date may be in the past., Number: 31D2142534, Expiration date: 2024-09-18
CAP, Number: 4344001, Expiration date: 2021-08-23
CAP, Number: 8289311, Expiration date: 2022-09-15
CAP, Number: 7193645, Expiration date: 2024-03-02
CAP, Number: 8131175, Expiration date: 2024-04-03
CAP, Number: 8003546, Expiration date: 2024-05-21
CAP, Number: 8770489, Expiration date: 2024-10-03

Licenses

CA - California Department of Public Health CDPH, Number: CDF00342667, Expiration date: 2023-03-13
MD - Maryland Department of Health and Mental Hygiene DHMH, Number: 1964, Effective date: 2020-06-05 Non-expiring
NY - New York State Department of Health NYSDOH, Number: PFI: 8884, Expiration date: 2023-06-30
PA - Pennsylvania Department of Health PADOH, Number: 033007, Expiration date: 2023-08-15
RI - State of Rhode Island Department of Health RIDOH, Number: LCO01801, Expiration date: 2022-12-30

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