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GTR Home > Laboratories > Reference Laboratory Genetics

Reference Laboratory Genetics

GTR Lab ID: 506061, Last updated:2021-01-04
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Personnel

Conditions and tests

  • 3 beta-Hydroxysteroid dehydrogenase deficiency2 tests
  • 3-hydroxy-3-methylglutaryl-CoA synthase deficiency1 test
  • 3-methylcrotonyl-CoA carboxylase 1 deficiency2 tests
  • 3-methylcrotonyl-CoA carboxylase 2 deficiency2 tests
  • 3-Methylglutaconic aciduria type 210 tests
  • 3-methylglutaconic aciduria type 52 tests
  • 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency2 tests
  • 3M syndrome 12 tests
  • 3M syndrome 22 tests
  • 3M syndrome 31 test
  • 3MC syndrome 11 test
  • 3MC syndrome 21 test
  • 3MC syndrome 31 test
  • 46,XX sex reversal 12 tests
  • 46,XX sex reversal 42 tests
  • 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome1 test
  • 46,XY sex reversal 12 tests
  • 46,XY sex reversal 21 test
  • 46,XY sex reversal 32 tests
  • 46,XY sex reversal 72 tests
  • Aarskog syndrome5 tests
  • Abetalipoproteinaemia2 tests
  • Ablepharon macrostomia syndrome1 test
  • Abortive cerebellar ataxia1 test
  • Acatalasia1 test
  • Achondrogenesis type II4 tests
  • Achondrogenesis, type IA4 tests
  • Achondrogenesis, type IB5 tests
  • Achondroplasia3 tests
  • Achromatopsia 22 tests
  • Achromatopsia 33 tests
  • Achromatopsia 41 test
  • Acquired partial lipodystrophy2 tests
  • Acquired polycythemia vera2 tests
  • Acral peeling skin syndrome2 tests
  • Acrocallosal syndrome2 tests
  • Acrocephalosyndactyly type I2 tests
  • Acrodysostosis 1 with or without hormone resistance2 tests
  • Acroerythrokeratoderma1 test
  • Acrokeratosis verruciformis of Hopf1 test
  • Acromesomelic dysplasia 1, Maroteaux type1 test
  • Acromesomelic dysplasia 2B1 test
  • Actin accumulation myopathy4 tests
  • Action myoclonus-renal failure syndrome1 test
  • Acute intermittent porphyria3 tests
  • Acute lymphoid leukemia3 tests
  • Acute myeloid leukemia7 tests
  • Acyl-CoA dehydrogenase 9 deficiency1 test
  • Acyl-CoA oxidase deficiency3 tests
  • Adams-Oliver syndrome 12 tests
  • Adams-Oliver syndrome 22 tests
  • Adams-Oliver syndrome 31 test
  • Adams-Oliver syndrome 41 test
  • Adams-Oliver syndrome 53 tests
  • Adams-Oliver syndrome 61 test
  • ADan amyloidosis1 test
  • ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder2 tests
  • Adrenocortical carcinoma, hereditary3 tests
  • Adrenoleukodystrophy4 tests
  • Adult hypophosphatasia4 tests
  • Adult neuronal ceroid lipofuscinosis4 tests
  • Adult polyglucosan body disease1 test
  • ADULT syndrome2 tests
  • Adult-onset autosomal dominant demyelinating leukodystrophy2 tests
  • Adult-onset foveomacular vitelliform dystrophy3 tests
  • Adult-onset proximal spinal muscular atrophy, autosomal dominant1 test
  • Afibrinogenemia1 test
  • Agammaglobulinemia 2, autosomal recessive2 tests
  • Agammaglobulinemia 3, autosomal recessive2 tests
  • Agammaglobulinemia 4, autosomal recessive2 tests
  • Agammaglobulinemia 5, autosomal dominant2 tests
  • Agammaglobulinemia 6, autosomal recessive2 tests
  • Agammaglobulinemia 7, autosomal recessive1 test
  • Age related macular degeneration 11 test
  • Age related macular degeneration 111 test
  • Age related macular degeneration 121 test
  • Age related macular degeneration 131 test
  • Age related macular degeneration 141 test
  • Age related macular degeneration 151 test
  • Age related macular degeneration 22 tests
  • Age related macular degeneration 41 test
  • Age related macular degeneration 51 test
  • Age related macular degeneration 61 test
  • Age related macular degeneration 71 test
  • Age related macular degeneration 81 test
  • Age related macular degeneration 91 test
  • Agenesis of the corpus callosum with peripheral neuropathy3 tests
  • Aicardi-Goutieres syndrome 13 tests
  • Aicardi-Goutieres syndrome 23 tests
  • Aicardi-Goutieres syndrome 33 tests
  • Aicardi-Goutieres syndrome 43 tests
  • Aicardi-Goutieres syndrome 53 tests
  • Aicardi-Goutieres syndrome 62 tests
  • Aicardi-Goutieres syndrome 71 test
  • Alagille syndrome due to a JAG1 point mutation4 tests
  • Alagille syndrome due to a NOTCH2 point mutation2 tests
  • ALDH18A1-related de Barsy syndrome1 test
  • Aldosterone-producing adenoma with seizures and neurological abnormalities1 test
  • Alexander disease3 tests
  • ALG12-congenital disorder of glycosylation1 test
  • ALG2-congenital disorder of glycosylation1 test
  • ALG3-congenital disorder of glycosylation2 tests
  • ALG6-congenital disorder of glycosylation 1C2 tests
  • ALG8 congenital disorder of glycosylation1 test
  • ALG9 congenital disorder of glycosylation1 test
  • Alkaptonuria1 test
  • Allan-Herndon-Dudley syndrome4 tests
  • Alopecia universalis congenita1 test
  • alpha Thalassemia2 tests
  • Alpha thalassemia-X-linked intellectual disability syndrome2 tests
  • Alpha-1-antitrypsin deficiency1 test
  • Alpha-methylacyl-CoA racemase deficiency2 tests
  • Alpha-N-acetylgalactosaminidase deficiency type 12 tests
  • Alpha-N-acetylgalactosaminidase deficiency type 22 tests
  • Alstrom syndrome1 test
  • Alternating hemiplegia of childhood 12 tests
  • Alzheimer disease4 tests
  • Alzheimer disease 21 test
  • Alzheimer disease 34 tests
  • Alzheimer disease 43 tests
  • Amelogenesis imperfecta - hypoplastic autosomal dominant - local1 test
  • Amelogenesis imperfecta hypomaturation type 2A21 test
  • Amelogenesis imperfecta hypomaturation type 2A31 test
  • Amelogenesis imperfecta type 1A1 test
  • Amelogenesis imperfecta type 1C1 test
  • Amelogenesis imperfecta type 1E1 test
  • Amelogenesis imperfecta type 1G1 test
  • Amelogenesis imperfecta type 2A11 test
  • Amelogenesis imperfecta, hypocalcification type1 test
  • Aminoacylase 1 deficiency1 test
  • Amyloidogenic transthyretin amyloidosis6 tests
  • Amyloidosis, primary localized cutaneous, 11 test
  • Amyloidosis, primary localized cutaneous, 21 test
  • Amyotrophic lateral sclerosis type 12 tests
  • Amyotrophic lateral sclerosis type 104 tests
  • Amyotrophic lateral sclerosis type 113 tests
  • Amyotrophic lateral sclerosis type 121 test
  • Amyotrophic lateral sclerosis type 151 test
  • Amyotrophic lateral sclerosis type 162 tests
  • Amyotrophic lateral sclerosis type 2, juvenile3 tests
  • Amyotrophic lateral sclerosis type 44 tests
  • Amyotrophic lateral sclerosis type 51 test
  • Amyotrophic lateral sclerosis type 63 tests
  • Amyotrophic lateral sclerosis type 82 tests
  • Amyotrophic lateral sclerosis type 92 tests
  • Amyotrophic neuralgia2 tests
  • Anauxetic dysplasia 11 test
  • Andersen Tawil syndrome3 tests
  • Androgen resistance syndrome2 tests
  • ANE syndrome1 test
  • Anemia, nonspherocytic hemolytic, due to G6PD deficiency5 tests
  • Aneurysm-osteoarthritis syndrome5 tests
  • Angelman syndrome4 tests
  • Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome1 test
  • Aniridia 14 tests
  • Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome1 test
  • Annular epidermolytic ichthyosis2 tests
  • Anophthalmia/microphthalmia-esophageal atresia syndrome4 tests
  • Anterior segment dysgenesis 11 test
  • Anterior segment dysgenesis 33 tests
  • Anterior segment dysgenesis 42 tests
  • Anterior segment dysgenesis 61 test
  • Anterior segment dysgenesis 72 tests
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis2 tests
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis1 test
  • Anxiety2 tests
  • Aortic aneurysm, familial thoracic 42 tests
  • Aortic aneurysm, familial thoracic 64 tests
  • Aortic aneurysm, familial thoracic 72 tests
  • Aortic aneurysm, familial thoracic 81 test
  • Aortic valve disease 12 tests
  • Aplastic anemia2 tests
  • Apolipoprotein c-III deficiency1 test
  • Apparent mineralocorticoid excess3 tests
  • Arginase deficiency1 test
  • Arginine:glycine amidinotransferase deficiency1 test
  • Argininosuccinate lyase deficiency2 tests
  • Aromatase deficiency2 tests
  • Arrhythmogenic cardiomyopathy with woolly hair and keratoderma2 tests
  • Arrhythmogenic right ventricular dysplasia 12 tests
  • Arrhythmogenic right ventricular dysplasia 103 tests
  • Arrhythmogenic right ventricular dysplasia 114 tests
  • Arrhythmogenic right ventricular dysplasia 124 tests
  • Arrhythmogenic right ventricular dysplasia 132 tests
  • Arrhythmogenic right ventricular dysplasia 24 tests
  • Arrhythmogenic right ventricular dysplasia 53 tests
  • Arrhythmogenic right ventricular dysplasia 83 tests
  • Arrhythmogenic right ventricular dysplasia 95 tests
  • Arterial calcification, generalized, of infancy, 13 tests
  • Arterial calcification, generalized, of infancy, 21 test
  • Arterial tortuosity syndrome3 tests
  • Arthrogryposis, distal, type 1A1 test
  • Arthrogryposis, distal, type 1B2 tests
  • Arthrogryposis, distal, with impaired proprioception and touch1 test
  • Arthrogryposis, renal dysfunction, and cholestasis 11 test
  • Arthrogryposis, renal dysfunction, and cholestasis 21 test
  • Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome1 test
  • Aspartylglucosaminuria2 tests
  • Asperger syndrome, X-linked, susceptibility to, 13 tests
  • Asperger syndrome, X-linked, susceptibility to, 23 tests
  • Asphyxiating thoracic dystrophy 23 tests
  • Asphyxiating thoracic dystrophy 33 tests
  • Asphyxiating thoracic dystrophy 42 tests
  • Asphyxiating thoracic dystrophy 52 tests
  • Ataxia with oculomotor apraxia type 31 test
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia5 tests
  • Ataxia-telangiectasia syndrome5 tests
  • Ataxia-telangiectasia-like disorder 13 tests
  • Ateleiotic dwarfism2 tests
  • Atelosteogenesis type I2 tests
  • Atelosteogenesis type II2 tests
  • Atelosteogenesis type III2 tests
  • Atransferrinemia1 test
  • Atrial conduction disease1 test
  • Atrial fibrillation, familial, 102 tests
  • Atrial fibrillation, familial, 113 tests
  • Atrial fibrillation, familial, 122 tests
  • Atrial fibrillation, familial, 132 tests
  • Atrial fibrillation, familial, 144 tests
  • Atrial fibrillation, familial, 152 tests
  • Atrial fibrillation, familial, 32 tests
  • Atrial fibrillation, familial, 42 tests
  • Atrial fibrillation, familial, 62 tests
  • Atrial fibrillation, familial, 72 tests
  • Atrial fibrillation, familial, 93 tests
  • Atrial septal defect 52 tests
  • Atrial septal defect 71 test
  • Atrial standstill 11 test
  • Atrichia with papular lesions1 test
  • Atrioventricular septal defect 31 test
  • Atrioventricular septal defect 41 test
  • Atrophia bulborum hereditaria2 tests
  • Atypical Gaucher disease due to saposin C deficiency2 tests
  • Atypical hemolytic-uremic syndrome with B factor anomaly2 tests
  • Atypical hemolytic-uremic syndrome with C3 anomaly2 tests
  • Atypical hemolytic-uremic syndrome with I factor anomaly3 tests
  • Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly4 tests
  • Atypical hemolytic-uremic syndrome with thrombomodulin anomaly3 tests
  • Autism spectrum disorder due to AUTS2 deficiency1 test
  • Autism, susceptibility to, 151 test
  • Autism, susceptibility to, 161 test
  • Autism, susceptibility to, 171 test
  • Autism, susceptibility to, 181 test
  • Autism, susceptibility to, X-linked 11 test
  • Autism, susceptibility to, X-linked 23 tests
  • Autism, susceptibility to, X-linked 31 test
  • Autism, susceptibility to, X-linked 41 test
  • Autism, susceptibility to, X-linked 51 test
  • Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome2 tests
  • Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency4 tests
  • Autoimmune lymphoproliferative syndrome type 13 tests
  • Autoimmune lymphoproliferative syndrome type 2A2 tests
  • Autoimmune lymphoproliferative syndrome type 2B2 tests
  • Autoimmune lymphoproliferative syndrome type 43 tests
  • Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD1 test
  • Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation1 test
  • Autosomal dominant Alport syndrome3 tests
  • Autosomal dominant aplasia and myelodysplasia1 test
  • Autosomal dominant centronuclear myopathy3 tests
  • Autosomal dominant cerebellar ataxia, deafness and narcolepsy1 test
  • Autosomal dominant Charcot-Marie-Tooth disease type 2W1 test
  • Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures4 tests
  • Autosomal dominant congenital benign spinal muscular atrophy1 test
  • Autosomal dominant distal renal tubular acidosis3 tests
  • Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome2 tests
  • Autosomal dominant hypocalcemia 14 tests
  • Autosomal dominant hypocalcemia 21 test
  • Autosomal dominant hypophosphatemic rickets3 tests
  • Autosomal dominant isolated somatotropin deficiency2 tests
  • Autosomal dominant keratitis1 test
  • Autosomal dominant keratitis-ichthyosis-hearing loss syndrome1 test
  • Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)3 tests
  • Autosomal dominant nocturnal frontal lobe epilepsy 14 tests
  • Autosomal dominant nocturnal frontal lobe epilepsy 34 tests
  • Autosomal dominant nocturnal frontal lobe epilepsy 44 tests
  • Autosomal dominant nonsyndromic hearing loss 11 test
  • Autosomal dominant nonsyndromic hearing loss 101 test
  • Autosomal dominant nonsyndromic hearing loss 111 test
  • Autosomal dominant nonsyndromic hearing loss 121 test
  • Autosomal dominant nonsyndromic hearing loss 131 test
  • Autosomal dominant nonsyndromic hearing loss 151 test
  • Autosomal dominant nonsyndromic hearing loss 171 test
  • Autosomal dominant nonsyndromic hearing loss 202 tests
  • Autosomal dominant nonsyndromic hearing loss 221 test
  • Autosomal dominant nonsyndromic hearing loss 231 test
  • Autosomal dominant nonsyndromic hearing loss 251 test
  • Autosomal dominant nonsyndromic hearing loss 281 test
  • 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 3A2 tests
  • Autosomal dominant nonsyndromic hearing loss 3B3 tests
  • Autosomal dominant nonsyndromic hearing loss 401 test
  • Autosomal dominant nonsyndromic hearing loss 441 test
  • Autosomal dominant nonsyndromic hearing loss 481 test
  • Autosomal dominant nonsyndromic hearing loss 4A1 test
  • Autosomal dominant nonsyndromic hearing loss 4B1 test
  • Autosomal dominant nonsyndromic hearing loss 51 test
  • Autosomal dominant nonsyndromic hearing loss 502 tests
  • Autosomal dominant nonsyndromic hearing loss 511 test
  • Autosomal dominant nonsyndromic hearing loss 561 test
  • Autosomal dominant nonsyndromic hearing loss 61 test
  • Autosomal dominant nonsyndromic hearing loss 651 test
  • Autosomal dominant nonsyndromic hearing loss 681 test
  • Autosomal dominant nonsyndromic hearing loss 691 test
  • Autosomal dominant nonsyndromic hearing loss 92 tests
  • Autosomal dominant Opitz G/BBB syndrome1 test
  • Autosomal dominant optic atrophy classic form5 tests
  • Autosomal dominant osteopetrosis 12 tests
  • Autosomal dominant osteopetrosis 23 tests
  • Autosomal dominant Parkinson disease 13 tests
  • Autosomal dominant Parkinson disease 43 tests
  • Autosomal dominant Parkinson disease 84 tests
  • Autosomal dominant pseudohypoaldosteronism type 12 tests
  • Autosomal dominant Robinow syndrome 11 test
  • Autosomal dominant vitreoretinochoroidopathy2 tests
  • Autosomal recessive agammaglobulinemia 12 tests
  • Autosomal recessive Alport syndrome6 tests
  • Autosomal recessive ataxia due to ubiquinone deficiency3 tests
  • Autosomal recessive ataxia, Beauce type2 tests
  • Autosomal recessive congenital ichthyosis 12 tests
  • Autosomal recessive congenital ichthyosis 101 test
  • Autosomal recessive congenital ichthyosis 111 test
  • Autosomal recessive congenital ichthyosis 22 tests
  • Autosomal recessive congenital ichthyosis 32 tests
  • Autosomal recessive congenital ichthyosis 4A1 test
  • Autosomal recessive congenital ichthyosis 4B2 tests
  • Autosomal recessive congenital ichthyosis 52 tests
  • Autosomal recessive congenital ichthyosis 61 test
  • Autosomal recessive congenital ichthyosis 82 tests
  • Autosomal recessive congenital ichthyosis 91 test
  • Autosomal recessive cutis laxa type 2B2 tests
  • Autosomal recessive distal renal tubular acidosis3 tests
  • Autosomal recessive distal spinal muscular atrophy 14 tests
  • Autosomal recessive DOPA responsive dystonia4 tests
  • Autosomal recessive early-onset Parkinson disease 63 tests
  • Autosomal recessive early-onset Parkinson disease 73 tests
  • Autosomal recessive hypophosphatemic bone disease3 tests
  • Autosomal recessive juvenile Parkinson disease 25 tests
  • Autosomal recessive Kenny-Caffey syndrome1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2A4 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2B4 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2C5 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2D5 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2E5 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2F5 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2G4 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2I5 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2J4 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2K5 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2L4 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2M5 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2N6 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2O4 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2P5 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2Q3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2U2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type R181 test
  • Autosomal recessive lower motor neuron disease with childhood onset3 tests
  • Autosomal recessive multiple pterygium syndrome2 tests
  • Autosomal recessive nonsyndromic hearing loss 121 test
  • Autosomal recessive nonsyndromic hearing loss 151 test
  • Autosomal recessive nonsyndromic hearing loss 18A1 test
  • Autosomal recessive nonsyndromic hearing loss 1A4 tests
  • Autosomal recessive nonsyndromic hearing loss 1B3 tests
  • Autosomal recessive nonsyndromic hearing loss 21 test
  • Autosomal recessive nonsyndromic hearing loss 211 test
  • Autosomal recessive nonsyndromic hearing loss 231 test
  • Autosomal recessive nonsyndromic hearing loss 241 test
  • Autosomal recessive nonsyndromic hearing loss 251 test
  • Autosomal recessive nonsyndromic hearing loss 281 test
  • Autosomal recessive nonsyndromic hearing loss 291 test
  • Autosomal recessive nonsyndromic hearing loss 31 test
  • Autosomal recessive nonsyndromic hearing loss 301 test
  • Autosomal recessive nonsyndromic hearing loss 312 tests
  • Autosomal recessive nonsyndromic hearing loss 351 test
  • Autosomal recessive nonsyndromic hearing loss 372 tests
  • Autosomal recessive nonsyndromic hearing loss 391 test
  • Autosomal recessive nonsyndromic hearing loss 43 tests
  • Autosomal recessive nonsyndromic hearing loss 421 test
  • Autosomal recessive nonsyndromic hearing loss 481 test
  • Autosomal recessive nonsyndromic hearing loss 491 test
  • Autosomal recessive nonsyndromic hearing loss 531 test
  • Autosomal recessive nonsyndromic hearing loss 592 tests
  • Autosomal recessive nonsyndromic hearing loss 62 tests
  • Autosomal recessive nonsyndromic hearing loss 611 test
  • Autosomal recessive nonsyndromic hearing loss 631 test
  • Autosomal recessive nonsyndromic hearing loss 671 test
  • Autosomal recessive nonsyndromic hearing loss 72 tests
  • Autosomal recessive nonsyndromic hearing loss 741 test
  • Autosomal recessive nonsyndromic hearing loss 771 test
  • Autosomal recessive nonsyndromic hearing loss 791 test
  • Autosomal recessive nonsyndromic hearing loss 82 tests
  • Autosomal recessive nonsyndromic hearing loss 84A1 test
  • Autosomal recessive nonsyndromic hearing loss 93 tests
  • Autosomal recessive nonsyndromic hearing loss 911 test
  • Autosomal recessive nonsyndromic hearing loss 971 test
  • Autosomal recessive optic atrophy, OPA7 type2 tests
  • Autosomal recessive osteopetrosis 12 tests
  • Autosomal recessive osteopetrosis 22 tests
  • Autosomal recessive osteopetrosis 42 tests
  • Autosomal recessive osteopetrosis 52 tests
  • Autosomal recessive osteopetrosis 62 tests
  • Autosomal recessive osteopetrosis 72 tests
  • Autosomal recessive osteopetrosis 81 test
  • Autosomal recessive Parkinson disease 142 tests
  • Autosomal recessive polycystic kidney disease4 tests
  • Autosomal recessive proximal renal tubular acidosis2 tests
  • Autosomal recessive pseudohypoaldosteronism type 15 tests
  • Autosomal recessive Robinow syndrome2 tests
  • Autosomal recessive severe congenital neutropenia due to CSF3R deficiency3 tests
  • Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency4 tests
  • Autosomal recessive spinocerebellar ataxia 101 test
  • Autosomal recessive spinocerebellar ataxia 141 test
  • Autosomal recessive spinocerebellar ataxia 161 test
  • Avellino corneal dystrophy2 tests
  • Axenfeld-Rieger syndrome type 11 test
  • Axenfeld-Rieger syndrome type 32 tests
  • Azorean disease1 test
  • B4GALT1-congenital disorder of glycosylation1 test
  • Bamforth-Lazarus syndrome1 test
  • Bannayan-Riley-Ruvalcaba syndrome1 test
  • BAP1-related tumor predisposition syndrome4 tests
  • Baraitser-Winter syndrome 11 test
  • Baraitser-winter syndrome 22 tests
  • Bardet-Biedl syndrome5 tests
  • Bardet-Biedl syndrome 101 test
  • Bardet-Biedl syndrome 111 test
  • Bardet-Biedl syndrome 121 test
  • Bardet-Biedl syndrome 132 tests
  • Bardet-Biedl syndrome 141 test
  • Bardet-Biedl syndrome 151 test
  • Bardet-Biedl syndrome 161 test
  • Bardet-Biedl syndrome 171 test
  • Bardet-Biedl syndrome 181 test
  • Bardet-Biedl syndrome 22 tests
  • Bardet-Biedl syndrome 42 tests
  • Bardet-Biedl syndrome 51 test
  • Bardet-Biedl syndrome 72 tests
  • Bardet-Biedl syndrome 82 tests
  • Bardet-Biedl syndrome 92 tests
  • Bartsocas-Papas syndrome1 test
  • Bartter disease type 12 tests
  • Bartter disease type 23 tests
  • Bartter disease type 34 tests
  • Bartter disease type 4a3 tests
  • Bartter disease type 4B2 tests
  • Basal cell carcinoma, susceptibility to, 11 test
  • Basal cell carcinoma, susceptibility to, 71 test
  • Basal ganglia calcification, idiopathic, 41 test
  • Basal ganglia calcification, idiopathic, 51 test
  • Basal ganglia calcification, idiopathic, 61 test
  • Becker muscular dystrophy4 tests
  • Beckwith-Wiedemann syndrome5 tests
  • Benign familial hematuria2 tests
  • Benign hereditary chorea2 tests
  • Benign recurrent intrahepatic cholestasis type 11 test
  • Benign recurrent intrahepatic cholestasis type 22 tests
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy7 tests
  • Bernard Soulier syndrome7 tests
  • Bernard-Soulier syndrome, type A2, autosomal dominant2 tests
  • beta Thalassemia2 tests
  • Beta-aminoisobutyric acid, urinary excretion of1 test
  • Beta-D-mannosidosis2 tests
  • Beta-thalassemia-X-linked thrombocytopenia syndrome2 tests
  • Bethlem myopathy 15 tests
  • Bethlem myopathy 21 test
  • Bietti crystalline corneoretinal dystrophy1 test
  • Bifunctional peroxisomal enzyme deficiency3 tests
  • Bilateral frontoparietal polymicrogyria3 tests
  • Bilateral microtia-deafness-cleft palate syndrome1 test
  • Bilateral parasagittal parieto-occipital polymicrogyria1 test
  • Biotin-responsive basal ganglia disease2 tests
  • Biotinidase deficiency2 tests
  • Birk-Barel syndrome1 test
  • Blau syndrome1 test
  • Bleeding diathesis due to thromboxane synthesis deficiency1 test
  • Blepharophimosis - intellectual disability syndrome, Ohdo type1 test
  • Blepharophimosis, ptosis, and epicanthus inversus syndrome2 tests
  • Blood group, Gerbich system1 test
  • Bloom syndrome4 tests
  • BNAR syndrome1 test
  • Body mass index quantitative trait locus 41 test
  • Body mass index quantitative trait locus 92 tests
  • Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency1 test
  • Bohring-Opitz syndrome1 test
  • Bone osteosarcoma2 tests
  • Boomerang dysplasia1 test
  • Borjeson-Forssman-Lehmann syndrome2 tests
  • Bothnia retinal dystrophy1 test
  • Brachydactyly type A12 tests
  • Brachydactyly type A1C1 test
  • Brachydactyly type A1D1 test
  • Brachydactyly type A22 tests
  • Brachydactyly type B11 test
  • Brachydactyly type B22 tests
  • Brachydactyly type C1 test
  • Brachydactyly type D1 test
  • Brachydactyly type E12 tests
  • Brachydactyly type E22 tests
  • Brachydactyly-arterial hypertension syndrome1 test
  • Brachydactyly-syndactyly syndrome1 test
  • Brachyrachia (short spine dysplasia)1 test
  • Bradyopsia1 test
  • Brain small vessel disease 1 with or without ocular anomalies4 tests
  • Brain-lung-thyroid syndrome3 tests
  • Branchiooculofacial syndrome1 test
  • Branchiootic syndrome 12 tests
  • Branchiootic syndrome 32 tests
  • Branchiootorenal syndrome 13 tests
  • Branchiootorenal syndrome 22 tests
  • Breast-ovarian cancer, familial, susceptibility to, 17 tests
  • Breast-ovarian cancer, familial, susceptibility to, 27 tests
  • Breast-ovarian cancer, familial, susceptibility to, 33 tests
  • Breast-ovarian cancer, familial, susceptibility to, 42 tests
  • Breasts and/or nipples, aplasia or hypoplasia of, 21 test
  • Brittle cornea syndrome 13 tests
  • Brittle cornea syndrome 23 tests
  • Brody myopathy3 tests
  • Brooke-Spiegler syndrome2 tests
  • Brown-Vialetto-van Laere syndrome 11 test
  • Bruck syndrome 12 tests
  • Bruck syndrome 23 tests
  • Brugada syndrome 13 tests
  • Brugada syndrome 23 tests
  • Brugada syndrome 34 tests
  • Brugada syndrome 43 tests
  • Brugada syndrome 54 tests
  • Brugada syndrome 64 tests
  • Brugada syndrome 74 tests
  • Brugada syndrome 84 tests
  • Brugada syndrome 92 tests
  • Bullous ichthyosiform erythroderma1 test
  • C syndrome1 test
  • Camptodactyly-arthropathy-coxa vara-pericarditis syndrome1 test
  • Camptodactyly-tall stature-scoliosis-hearing loss syndrome1 test
  • Camptomelic dysplasia4 tests
  • Candidiasis, familial, 62 tests
  • Capillary malformation-arteriovenous malformation 12 tests
  • CARASIL syndrome1 test
  • Carcinoid tumor of intestine1 test
  • Carcinoma of colon4 tests
  • Carcinoma of pancreas3 tests
  • Cardiac arrhythmia, ankyrin-B-related5 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 12 tests
  • Cardiofaciocutaneous syndrome 13 tests
  • Cardiofaciocutaneous syndrome 22 tests
  • Cardiofaciocutaneous syndrome 33 tests
  • Cardiofaciocutaneous syndrome 43 tests
  • Cardiomyopathy, familial restrictive, 13 tests
  • Cardiomyopathy, familial restrictive, 33 tests
  • Cardiomyopathy-hypotonia-lactic acidosis syndrome1 test
  • Carney complex - trismus - pseudocamptodactyly syndrome1 test
  • Carney complex, type 12 tests
  • Carney-Stratakis syndrome3 tests
  • Carnitine acylcarnitine translocase deficiency3 tests
  • Carnitine palmitoyl transferase 1A deficiency2 tests
  • Carnitine palmitoyl transferase II deficiency, myopathic form4 tests
  • Carnitine palmitoyl transferase II deficiency, neonatal form1 test
  • Carnitine palmitoyl transferase II deficiency, severe infantile form1 test
  • Carpal tunnel syndrome1 test
  • Cataract 1 multiple types1 test
  • Cataract 10 multiple types1 test
  • Cataract 11 multiple types2 tests
  • Cataract 12 multiple types1 test
  • Cataract 13 with adult I phenotype1 test
  • Cataract 14 multiple types1 test
  • Cataract 15 multiple types1 test
  • Cataract 16 multiple types1 test
  • Cataract 17 multiple types1 test
  • Cataract 182 tests
  • Cataract 19 multiple types1 test
  • Cataract 2, multiple types1 test
  • Cataract 20 multiple types1 test
  • Cataract 21 multiple types1 test
  • Cataract 22 multiple types1 test
  • Cataract 231 test
  • Cataract 3 multiple types1 test
  • Cataract 301 test
  • Cataract 31 multiple types1 test
  • Cataract 331 test
  • Cataract 34 multiple types1 test
  • Cataract 361 test
  • Cataract 381 test
  • Cataract 39 multiple types1 test
  • Cataract 4 multiple types1 test
  • Cataract 402 tests
  • Cataract 5 multiple types1 test
  • Cataract 6 multiple types1 test
  • Cataract 9 multiple types1 test
  • Catecholaminergic polymorphic ventricular tachycardia 16 tests
  • Catecholaminergic polymorphic ventricular tachycardia 24 tests
  • Catecholaminergic polymorphic ventricular tachycardia 42 tests
  • Catecholaminergic polymorphic ventricular tachycardia 52 tests
  • CBL-related disorder2 tests
  • CEDNIK syndrome2 tests
  • Central core myopathy7 tests
  • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 14 tests
  • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 32 tests
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 16 tests
  • Cerebral cavernous malformation5 tests
  • Cerebral cavernous malformation 23 tests
  • Cerebral cavernous malformation 33 tests
  • Cerebral folate transport deficiency2 tests
  • Cerebrooculofacioskeletal syndrome 41 test
  • Cerebroretinal microangiopathy with calcifications and cysts 13 tests
  • Cernunnos-XLF deficiency1 test
  • Ceroid lipofuscinosis, neuronal, 4 (Kufs type)3 tests
  • Ceroid lipofuscinosis, neuronal, 6A5 tests
  • CFHR5 deficiency3 tests
  • Char syndrome1 test
  • Charcot-Marie-Tooth disease axonal type 2C6 tests
  • Charcot-Marie-Tooth disease axonal type 2F4 tests
  • Charcot-Marie-Tooth disease axonal type 2K5 tests
  • Charcot-Marie-Tooth disease axonal type 2L5 tests
  • Charcot-Marie-Tooth disease axonal type 2N5 tests
  • Charcot-Marie-Tooth disease axonal type 2O5 tests
  • Charcot-Marie-Tooth disease axonal type 2P3 tests
  • Charcot-Marie-Tooth disease axonal type 2S3 tests
  • Charcot-Marie-Tooth disease axonal type 2T1 test
  • Charcot-Marie-Tooth disease axonal type 2V1 test
  • Charcot-Marie-Tooth disease dominant intermediate B5 tests
  • Charcot-Marie-Tooth disease dominant intermediate C3 tests
  • Charcot-Marie-Tooth disease dominant intermediate D2 tests
  • Charcot-Marie-Tooth disease dominant intermediate E3 tests
  • Charcot-Marie-Tooth disease recessive intermediate A3 tests
  • Charcot-Marie-Tooth disease recessive intermediate B1 test
  • Charcot-Marie-Tooth disease recessive intermediate C2 tests
  • Charcot-Marie-Tooth disease type 1B5 tests
  • Charcot-Marie-Tooth disease type 1C5 tests
  • Charcot-Marie-Tooth disease type 1D6 tests
  • Charcot-Marie-Tooth disease type 1E3 tests
  • Charcot-Marie-Tooth disease type 1F5 tests
  • Charcot-Marie-Tooth disease type 2A14 tests
  • Charcot-Marie-Tooth disease type 2A26 tests
  • Charcot-Marie-Tooth disease type 2B5 tests
  • Charcot-Marie-Tooth disease type 2B16 tests
  • Charcot-Marie-Tooth disease type 2B25 tests
  • Charcot-Marie-Tooth disease type 2D4 tests
  • Charcot-Marie-Tooth disease type 2E3 tests
  • Charcot-Marie-Tooth disease type 2I5 tests
  • Charcot-Marie-Tooth disease type 2J4 tests
  • Charcot-Marie-Tooth disease type 2Y1 test
  • Charcot-Marie-Tooth disease type 4A7 tests
  • Charcot-Marie-Tooth disease type 4B16 tests
  • Charcot-Marie-Tooth disease type 4B26 tests
  • Charcot-Marie-Tooth disease type 4C6 tests
  • Charcot-Marie-Tooth disease type 4D5 tests
  • Charcot-Marie-Tooth disease type 4E1 test
  • Charcot-Marie-Tooth disease type 4F5 tests
  • Charcot-Marie-Tooth disease type 4G2 tests
  • Charcot-Marie-Tooth disease type 4H4 tests
  • Charcot-Marie-Tooth disease type 4J3 tests
  • Charcot-Marie-Tooth disease type 4K1 test
  • Charcot-Marie-Tooth disease X-linked dominant 15 tests
  • Charcot-Marie-Tooth disease X-linked recessive 54 tests
  • Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;3 tests
  • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive2 tests
  • Charcot-Marie-Tooth disease, type IA4 tests
  • CHARGE association5 tests
  • Charlevoix-Saguenay spastic ataxia2 tests
  • Child syndrome2 tests
  • Childhood apraxia of speech3 tests
  • Childhood hypophosphatasia3 tests
  • Childhood onset GLUT1 deficiency syndrome 22 tests
  • Chitotriosidase deficiency1 test
  • Cholestanol storage disease2 tests
  • Cholestasis, intrahepatic, of pregnancy, 11 test
  • Cholestasis, intrahepatic, of pregnancy, 31 test
  • Cholestasis, progressive familial intrahepatic, 41 test
  • Chondrocalcinosis 21 test
  • Chondrodysplasia Blomstrand type3 tests
  • Chondrodysplasia punctata 2 X-linked dominant3 tests
  • Chondrodysplasia with joint dislocations, gPAPP type2 tests
  • Chondrosarcoma1 test
  • Chorea-acanthocytosis2 tests
  • Choroid plexus papilloma1 test
  • Choroideremia2 tests
  • Christianson syndrome2 tests
  • Chromosome 2P16.3 deletion syndrome1 test
  • Chromosome 2q32-q33 deletion syndrome1 test
  • Chromosome 2q37 deletion syndrome1 test
  • Chronic infantile neurological, cutaneous and articular syndrome1 test
  • Chudley-McCullough syndrome3 tests
  • Chuvash polycythemia2 tests
  • Chylomicron retention disease1 test
  • Chédiak-Higashi syndrome5 tests
  • CIDEC-related familial partial lipodystrophy1 test
  • Citrullinemia type I3 tests
  • Citrullinemia type II3 tests
  • Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency2 tests
  • Classic homocystinuria3 tests
  • Cleidocranial dysostosis2 tests
  • Clubfoot1 test
  • Cobalamin C disease4 tests
  • Cobblestone lissencephaly without muscular or ocular involvement1 test
  • Cockayne syndrome type 13 tests
  • Cockayne syndrome type 23 tests
  • Coenzyme Q10 deficiency, primary, 13 tests
  • Coenzyme Q10 deficiency, primary, 32 tests
  • Coffin-Lowry syndrome2 tests
  • Coffin-Siris syndrome 110 tests
  • Coffin-Siris syndrome 51 test
  • COG1 congenital disorder of glycosylation1 test
  • COG4-congenital disorder of glycosylation1 test
  • COG5-congenital disorder of glycosylation1 test
  • COG6-ongenital disorder of glycosylation1 test
  • COG7 congenital disorder of glycosylation2 tests
  • COG8-congenital disorder of glycosylation2 tests
  • Cohen syndrome5 tests
  • Colchicine resistance1 test
  • Cold-induced sweating syndrome 11 test
  • Cold-induced sweating syndrome 21 test
  • Coloboma of optic nerve1 test
  • Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness2 tests
  • Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome1 test
  • Colorectal cancer, hereditary nonpolyposis, type 29 tests
  • Colorectal cancer, hereditary nonpolyposis, type 49 tests
  • Colorectal cancer, hereditary nonpolyposis, type 510 tests
  • Colorectal cancer, hereditary nonpolyposis, type 61 test
  • Colorectal cancer, hereditary nonpolyposis, type 72 tests
  • Colorectal cancer, hereditary nonpolyposis, type 89 tests
  • Combined deficiency of sialidase AND beta galactosidase3 tests
  • Combined immunodeficiency due to DOCK8 deficiency2 tests
  • Combined immunodeficiency due to ORAI1 deficiency1 test
  • Combined immunodeficiency due to OX40 deficiency1 test
  • Combined immunodeficiency due to partial RAG1 deficiency1 test
  • Combined immunodeficiency due to STIM1 deficiency1 test
  • Combined immunodeficiency due to ZAP70 deficiency1 test
  • Combined immunodeficiency with skin granulomas1 test
  • Combined immunodeficiency, X-linked1 test
  • Complement component 2 deficiency2 tests
  • Complement component 3 deficiency1 test
  • Complement factor b deficiency1 test
  • Complex cortical dysplasia with other brain malformations 13 tests
  • Complex cortical dysplasia with other brain malformations 73 tests
  • Compton-North congenital myopathy1 test
  • Cone dystrophy 31 test
  • Cone dystrophy 42 tests
  • Cone dystrophy with supernormal rod response1 test
  • Cone-rod dystrophy 101 test
  • Cone-rod dystrophy 111 test
  • Cone-rod dystrophy 121 test
  • Cone-rod dystrophy 132 tests
  • Cone-rod dystrophy 152 tests
  • Cone-rod dystrophy 163 tests
  • Cone-rod dystrophy 24 tests
  • Cone-rod dystrophy 32 tests
  • Cone-rod dystrophy 51 test
  • Cone-rod dystrophy 63 tests
  • Cone-rod dystrophy 71 test
  • Cone-rod dystrophy 91 test
  • Cone-rod synaptic disorder, congenital nonprogressive2 tests
  • Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency2 tests
  • Congenital adrenal hypoplasia, X-linked3 tests
  • Congenital afibrinogenemia2 tests
  • Congenital amegakaryocytic thrombocytopenia3 tests
  • Congenital cataract-hearing loss-severe developmental delay syndrome1 test
  • Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome1 test
  • Congenital cataracts-facial dysmorphism-neuropathy syndrome1 test
  • Congenital central hypoventilation9 tests
  • Congenital contractural arachnodactyly7 tests
  • Congenital contractures of the limbs and face, hypotonia, and developmental delay1 test
  • Congenital diarrhea 5 with tufting enteropathy1 test
  • Congenital diarrhea 61 test
  • Congenital disorder of glycosylation type 1E2 tests
  • Congenital dyserythropoietic anemia type 41 test
  • Congenital dyserythropoietic anemia, type I2 tests
  • Congenital dyserythropoietic anemia, type II3 tests
  • Congenital fibrosis of extraocular muscles type 12 tests
  • Congenital generalized lipodystrophy type 12 tests
  • Congenital generalized lipodystrophy type 23 tests
  • Congenital generalized lipodystrophy type 31 test
  • Congenital generalized lipodystrophy type 43 tests
  • Congenital glucose-galactose malabsorption1 test
  • Congenital heart defects, multiple types, 61 test
  • Congenital hereditary endothelial dystrophy of cornea2 tests
  • Congenital hyperammonemia, type I2 tests
  • Congenital hypotrichosis with juvenile macular dystrophy1 test
  • Congenital lactase deficiency1 test
  • Congenital lipoid adrenal hyperplasia due to STAR deficency3 tests
  • Congenital malabsorptive diarrhea 42 tests
  • Congenital microvillous atrophy2 tests
  • Congenital multicore myopathy with external ophthalmoplegia3 tests
  • Congenital muscular dystrophy due to integrin alpha-7 deficiency2 tests
  • Congenital muscular dystrophy due to LMNA mutation1 test
  • Congenital muscular hypertrophy-cerebral syndrome3 tests
  • Congenital myasthenic syndrome 103 tests
  • Congenital myasthenic syndrome 112 tests
  • Congenital myasthenic syndrome 121 test
  • Congenital myasthenic syndrome 162 tests
  • Congenital myasthenic syndrome 2A4 tests
  • Congenital myasthenic syndrome 2C3 tests
  • Congenital myasthenic syndrome 3A3 tests
  • Congenital myasthenic syndrome 3B3 tests
  • Congenital myasthenic syndrome 3C3 tests
  • Congenital myasthenic syndrome 4A3 tests
  • Congenital myasthenic syndrome 4B3 tests
  • Congenital myasthenic syndrome 4C4 tests
  • Congenital myasthenic syndrome 53 tests
  • Congenital myasthenic syndrome 81 test
  • Congenital myasthenic syndrome 92 tests
  • Congenital myopathy with fiber type disproportion4 tests
  • Congenital myopathy with internal nuclei and atypical cores1 test
  • Congenital myotonia, autosomal dominant form5 tests
  • Congenital myotonia, autosomal recessive form3 tests
  • Congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome1 test
  • Congenital nongoitrous hypothryoidism 62 tests
  • Congenital ocular coloboma1 test
  • Congenital primary aphakia1 test
  • Congenital prothrombin deficiency1 test
  • Congenital reticular ichthyosiform erythroderma1 test
  • Congenital secretory diarrhea, chloride type1 test
  • Congenital sensory neuropathy with selective loss of small myelinated fibers1 test
  • Congenital stationary night blindness 1A2 tests
  • Congenital stationary night blindness 1B1 test
  • Congenital stationary night blindness 1C1 test
  • Congenital stationary night blindness 1D1 test
  • Congenital stationary night blindness 1E1 test
  • Congenital stationary night blindness 1G1 test
  • Congenital stationary night blindness 2A1 test
  • Congenital stationary night blindness autosomal dominant 11 test
  • Congenital stationary night blindness autosomal dominant 21 test
  • Congenital stationary night blindness autosomal dominant 31 test
  • Congenital stromal corneal dystrophy1 test
  • Conotruncal heart malformations2 tests
  • Constitutional megaloblastic anemia with severe neurologic disease1 test
  • Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A1 test
  • Corneal dystrophy, Fuchs endothelial, 12 tests
  • Corneal dystrophy, Fuchs endothelial, 31 test
  • Corneal dystrophy, Fuchs endothelial, 41 test
  • Corneal dystrophy, Fuchs endothelial, 61 test
  • Corneal dystrophy, lattice type 3A1 test
  • Corneal dystrophy, Meesmann, 13 tests
  • Corneal dystrophy-perceptive deafness syndrome1 test
  • Cornelia de Lange syndrome 14 tests
  • Cornelia de Lange syndrome 32 tests
  • Cornelia de Lange syndrome 41 test
  • Cornelia de Lange syndrome 51 test
  • Coronary heart disease, susceptibility to, 61 test
  • Cortical dysplasia-focal epilepsy syndrome3 tests
  • Corticosterone 18-monooxygenase deficiency1 test
  • Corticosterone methyloxidase type 2 deficiency1 test
  • Costello syndrome3 tests
  • Cowden syndrome 15 tests
  • Cowden syndrome 51 test
  • Cowden syndrome 61 test
  • Coxopodopatellar syndrome1 test
  • Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome1 test
  • Craniofrontonasal syndrome4 tests
  • Craniometaphyseal dysplasia, autosomal dominant3 tests
  • Craniometaphyseal dysplasia, autosomal recessive2 tests
  • Craniosynostosis 22 tests
  • Craniosynostosis 5, susceptibility to1 test
  • Creatine transporter deficiency5 tests
  • Crigler-Najjar syndrome1 test
  • Crigler-Najjar syndrome, type II1 test
  • Crouzon syndrome-acanthosis nigricans syndrome2 tests
  • Cryptosporidiosis-chronic cholangitis-liver disease syndrome2 tests
  • Currarino triad2 tests
  • Curry-Hall syndrome2 tests
  • Cutaneous porphyria2 tests
  • Cutis laxa with osteodystrophy4 tests
  • Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies2 tests
  • Cutis laxa, autosomal dominant 14 tests
  • Cutis laxa, autosomal dominant 22 tests
  • Cutis laxa, autosomal dominant 31 test
  • Cutis laxa, autosomal recessive, type 1A3 tests
  • Cutis laxa, autosomal recessive, type 1B2 tests
  • Cutis laxa, X-linked2 tests
  • Cyclical neutropenia1 test
  • CYP2C19-related poor drug metabolism1 test
  • Cystic fibrosis5 tests
  • Cystic leukoencephalopathy without megalencephaly2 tests
  • Cystinuria3 tests
  • Cytochrome-c oxidase deficiency disease2 tests
  • D-2-hydroxyglutaric aciduria 11 test
  • D-2-hydroxyglutaric aciduria 22 tests
  • Dalmatian hypouricemia1 test
  • Danon disease8 tests
  • Deafness dystonia syndrome2 tests
  • Deafness with labyrinthine aplasia, microtia, and microdontia1 test
  • Deafness, X-linked 51 test
  • Deafness-encephaloneuropathy-obesity-valvulopathy syndrome2 tests
  • Deafness-lymphedema-leukemia syndrome3 tests
  • Deficiency of 3-hydroxyacyl-CoA dehydrogenase1 test
  • Deficiency of acetyl-CoA acetyltransferase2 tests
  • Deficiency of alpha-mannosidase3 tests
  • Deficiency of aromatic-L-amino-acid decarboxylase1 test
  • Deficiency of bisphosphoglycerate mutase1 test
  • Deficiency of butyryl-CoA dehydrogenase2 tests
  • Deficiency of butyrylcholinesterase1 test
  • Deficiency of cytochrome-b5 reductase2 tests
  • Deficiency of ferroxidase3 tests
  • Deficiency of galactokinase2 tests
  • Deficiency of guanidinoacetate methyltransferase2 tests
  • Deficiency of hyaluronoglucosaminidase4 tests
  • Deficiency of hydroxymethylglutaryl-CoA lyase3 tests
  • Deficiency of iodide peroxidase3 tests
  • Deficiency of isobutyryl-CoA dehydrogenase1 test
  • Deficiency of pyrroline-5-carboxylate reductase1 test
  • Deficiency of steroid 11-beta-monooxygenase2 tests
  • Deficiency of steroid 17-alpha-monooxygenase4 tests
  • Deficiency of transaldolase1 test
  • Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase3 tests
  • Dejerine-Sottas disease3 tests
  • Dent disease type 11 test
  • Dent disease type 21 test
  • Dentatorubral-pallidoluysian atrophy1 test
  • Dentinogenesis imperfecta type 22 tests
  • Dentinogenesis imperfecta type 31 test
  • Desbuquois dysplasia 12 tests
  • Desmin-related myofibrillar myopathy5 tests
  • Desmoid disease, hereditary1 test
  • Desmosterolosis1 test
  • Developmental and epileptic encephalopathy, 16 tests
  • Developmental and epileptic encephalopathy, 116 tests
  • Developmental and epileptic encephalopathy, 122 tests
  • Developmental and epileptic encephalopathy, 134 tests
  • Developmental and epileptic encephalopathy, 141 test
  • Developmental and epileptic encephalopathy, 152 tests
  • Developmental and epileptic encephalopathy, 163 tests
  • Developmental and epileptic encephalopathy, 193 tests
  • Developmental and epileptic encephalopathy, 29 tests
  • Developmental and epileptic encephalopathy, 242 tests
  • Developmental and epileptic encephalopathy, 271 test
  • Developmental and epileptic encephalopathy, 291 test
  • Developmental and epileptic encephalopathy, 311 test
  • Developmental and epileptic encephalopathy, 351 test
  • Developmental and epileptic encephalopathy, 361 test
  • Developmental and epileptic encephalopathy, 392 tests
  • Developmental and epileptic encephalopathy, 47 tests
  • Developmental and epileptic encephalopathy, 411 test
  • Developmental and epileptic encephalopathy, 423 tests
  • Developmental and epileptic encephalopathy, 432 tests
  • Developmental and epileptic encephalopathy, 461 test
  • Developmental and epileptic encephalopathy, 481 test
  • Developmental and epileptic encephalopathy, 53 tests
  • Developmental and epileptic encephalopathy, 523 tests
  • Developmental and epileptic encephalopathy, 74 tests
  • Developmental and epileptic encephalopathy, 84 tests
  • Developmental and epileptic encephalopathy, 95 tests
  • Developmental delay with autism spectrum disorder and gait instability3 tests
  • Developmental malformations-deafness-dystonia syndrome1 test
  • Diabetes insipidus, nephrogenic, autosomal2 tests
  • Diabetes insipidus, nephrogenic, X-linked3 tests
  • Diabetes mellitus type 11 test
  • Diabetes mellitus, ketosis-prone1 test
  • Diabetes mellitus, noninsulin-dependent, 11 test
  • Diabetes mellitus, transient neonatal, 11 test
  • Diabetes mellitus, transient neonatal, 21 test
  • Diabetes mellitus, transient neonatal, 32 tests
  • Diamond-Blackfan anemia 15 tests
  • Diamond-Blackfan anemia 105 tests
  • Diamond-Blackfan anemia 111 test
  • Diamond-Blackfan anemia 34 tests
  • Diamond-Blackfan anemia 45 tests
  • Diamond-Blackfan anemia 55 tests
  • Diamond-Blackfan anemia 65 tests
  • Diamond-Blackfan anemia 75 tests
  • Diamond-Blackfan anemia 84 tests
  • Diamond-Blackfan anemia 94 tests
  • Diaphyseal dysplasia1 test
  • Diastrophic dysplasia3 tests
  • DICER1 syndrome2 tests
  • Diffuse nonepidermolytic palmoplantar keratoderma1 test
  • Dihydropyrimidine dehydrogenase deficiency2 tests
  • Dilated cardiomyopathy 1A7 tests
  • Dilated cardiomyopathy 1AA3 tests
  • Dilated cardiomyopathy 1BB2 tests
  • Dilated cardiomyopathy 1C6 tests
  • Dilated cardiomyopathy 1CC2 tests
  • Dilated cardiomyopathy 1D6 tests
  • Dilated cardiomyopathy 1DD3 tests
  • Dilated cardiomyopathy 1E5 tests
  • Dilated cardiomyopathy 1EE2 tests
  • Dilated cardiomyopathy 1FF3 tests
  • Dilated cardiomyopathy 1G4 tests
  • Dilated cardiomyopathy 1HH2 tests
  • Dilated cardiomyopathy 1I5 tests
  • Dilated cardiomyopathy 1II1 test
  • Dilated cardiomyopathy 1J2 tests
  • Dilated cardiomyopathy 1JJ1 test
  • Dilated cardiomyopathy 1KK3 tests
  • Dilated cardiomyopathy 1L2 tests
  • Dilated cardiomyopathy 1M2 tests
  • Dilated cardiomyopathy 1O2 tests
  • Dilated cardiomyopathy 1P3 tests
  • Dilated cardiomyopathy 1R4 tests
  • Dilated cardiomyopathy 1S5 tests
  • Dilated cardiomyopathy 1U1 test
  • Dilated cardiomyopathy 1V1 test
  • Dilated cardiomyopathy 1W3 tests
  • Dilated cardiomyopathy 1X1 test
  • Dilated cardiomyopathy 1Y4 tests
  • Dilated cardiomyopathy 1Z3 tests
  • Dilated cardiomyopathy 2A3 tests
  • Dilated cardiomyopathy 3B2 tests
  • Disorder due cytochrome p450 CYP2D6 variant1 test
  • Distal arthrogryposis type 2B15 tests
  • Distal myopathy with anterior tibial onset1 test
  • Distal myopathy with posterior leg and anterior hand involvement1 test
  • Distal myopathy, Tateyama type2 tests
  • Distichiasis-lymphedema syndrome2 tests
  • DK1-congenital disorder of glycosylation1 test
  • Donnai-Barrow syndrome1 test
  • DOORS syndrome1 test
  • Dopa-responsive dystonia due to sepiapterin reductase deficiency3 tests
  • Dowling-Degos disease 12 tests
  • Dowling-Degos disease 22 tests
  • Dowling-Degos disease 42 tests
  • Doyne honeycomb retinal dystrophy1 test
  • DPAGT1-congenital disorder of glycosylation1 test
  • DPM3-congenital disorder of glycosylation2 tests
  • Drash syndrome1 test
  • Duane retraction syndrome 21 test
  • Duane-radial ray syndrome2 tests
  • Dubin-Johnson syndrome1 test
  • Duchenne muscular dystrophy3 tests
  • Dyggve-Melchior-Clausen syndrome1 test
  • DYRK1A-related intellectual disability syndrome2 tests
  • Dyskeratosis congenita, autosomal dominant 14 tests
  • Dyskeratosis congenita, autosomal dominant 25 tests
  • Dyskeratosis congenita, autosomal dominant 34 tests
  • Dyskeratosis congenita, autosomal recessive 12 tests
  • Dyskeratosis congenita, autosomal recessive 22 tests
  • Dyskeratosis congenita, autosomal recessive 33 tests
  • Dyskeratosis congenita, X-linked4 tests
  • Dyskinesia with orofacial involvement, autosomal dominant1 test
  • Dyskinesia, limb and orofacial, infantile-onset1 test
  • Dystonia 122 tests
  • Dystonia 162 tests
  • Dystonia 241 test
  • Dystonia 251 test
  • Dystonia 271 test
  • Dystonia 54 tests
  • Dystonia 92 tests
  • Early myoclonic encephalopathy2 tests
  • Early-onset generalized limb-onset dystonia4 tests
  • Early-onset parkinsonism-intellectual disability syndrome1 test
  • EAST syndrome3 tests
  • Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant4 tests
  • Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive4 tests
  • Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant4 tests
  • Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive4 tests
  • Ectodermal dysplasia and immunodeficiency 12 tests
  • Ectodermal dysplasia and immunodeficiency 22 tests
  • Ectopia lentis 1, isolated, autosomal dominant1 test
  • Ectopia lentis 2, isolated, autosomal recessive2 tests
  • Ectopia lentis et pupillae2 tests
  • Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 34 tests
  • EDICT syndrome1 test
  • EEM syndrome2 tests
  • Efavirenz response1 test
  • Ehlers-Danlos syndrome due to tenascin-X deficiency2 tests
  • Ehlers-Danlos syndrome progeroid type2 tests
  • Ehlers-danlos syndrome, arthrochalasia type, 21 test
  • Ehlers-Danlos syndrome, arthrochalasis type3 tests
  • Ehlers-Danlos syndrome, classic type8 tests
  • Ehlers-Danlos syndrome, dermatosparaxis type3 tests
  • Ehlers-Danlos syndrome, kyphoscoliotic and deafness type3 tests
  • Ehlers-Danlos syndrome, kyphoscoliotic type 14 tests
  • Ehlers-Danlos syndrome, musculocontractural type3 tests
  • Ehlers-Danlos syndrome, spondylocheirodysplastic type3 tests
  • Ehlers-Danlos syndrome, spondylodysplastic type, 21 test
  • Ehlers-Danlos syndrome, type 32 tests
  • Ehlers-Danlos syndrome, type 45 tests
  • Eichsfeld type congenital muscular dystrophy2 tests
  • Eiken syndrome1 test
  • Elliptocytosis 12 tests
  • Elliptocytosis 21 test
  • Ellis-van Creveld syndrome4 tests
  • Emery-Dreifuss muscular dystrophy 3, autosomal recessive2 tests
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant2 tests
  • Emery-Dreifuss muscular dystrophy 5, autosomal dominant2 tests
  • Emery-Dreifuss muscular dystrophy 7, autosomal dominant4 tests
  • Encephalopathy due to GLUT1 deficiency4 tests
  • Encephalopathy due to prosaposin deficiency2 tests
  • Encephalopathy, acute, infection-induced, susceptibility to, 41 test
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 12 tests
  • Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome2 tests
  • Endometrial carcinoma4 tests
  • Enhanced S-cone syndrome1 test
  • Epidermodysplasia verruciformis, susceptibility to, 13 tests
  • Epidermolysis bullosa pruriginosa1 test
  • Epidermolysis bullosa simplex 1A, generalized severe3 tests
  • Epidermolysis bullosa simplex 1C, localized2 tests
  • Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive2 tests
  • Epidermolysis bullosa simplex 5B, with muscular dystrophy2 tests
  • Epidermolysis bullosa simplex 5C, with pyloric atresia2 tests
  • Epidermolysis bullosa simplex with migratory circinate erythema1 test
  • Epidermolysis bullosa simplex with mottled pigmentation1 test
  • Epidermolysis bullosa simplex with nail dystrophy1 test
  • Epidermolysis bullosa simplex, Koebner type2 tests
  • Epidermolysis bullosa simplex, Ogna type1 test
  • Epidermolytic palmoplantar keratoderma6 tests
  • Epilepsy, childhood absence 22 tests
  • Epilepsy, childhood absence, susceptibility to, 51 test
  • Epilepsy, childhood absence, susceptibility to, 63 tests
  • Epilepsy, familial adult myoclonic, 21 test
  • Epilepsy, familial adult myoclonic, 51 test
  • Epilepsy, familial focal, with variable foci 11 test
  • Epilepsy, familial temporal lobe, 13 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 103 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 111 test
  • Epilepsy, idiopathic generalized, susceptibility to, 122 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 133 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 92 tests
  • Epilepsy, juvenile absence, susceptibility to, 11 test
  • Epilepsy, progressive myoclonic, 1B1 test
  • Epiphyseal dysplasia, multiple, 23 tests
  • Epiphyseal dysplasia, multiple, 32 tests
  • Epiphyseal dysplasia, multiple, 63 tests
  • Episodic ataxia type 15 tests
  • Episodic ataxia type 25 tests
  • Episodic ataxia type 52 tests
  • Episodic ataxia type 62 tests
  • Episodic kinesigenic dyskinesia 11 test
  • Episodic pain syndrome, familial, 23 tests
  • Epithelial basement membrane dystrophy1 test
  • Erythrocyte AMP deaminase deficiency1 test
  • Erythrocytosis, familial, 32 tests
  • Erythrocytosis, familial, 43 tests
  • Erythrokeratodermia variabilis et progressiva 13 tests
  • Erythrokeratodermia variabilis et progressiva 22 tests
  • Erythrokeratodermia variabilis et progressiva 31 test
  • Essential hypertension1 test
  • Ethylmalonic encephalopathy1 test
  • Exercise-induced hyperinsulinism2 tests
  • Exostoses, multiple, type 23 tests
  • Exudative retinopathy1 test
  • Exudative vitreoretinopathy 13 tests
  • Exudative vitreoretinopathy 2, X-linked3 tests
  • Exudative vitreoretinopathy 43 tests
  • Exudative vitreoretinopathy 51 test
  • Fabry disease6 tests
  • Facioscapulohumeral muscular dystrophy 21 test
  • Factor 5 and Factor VIII, combined deficiency of, 21 test
  • Factor H deficiency1 test
  • Factor V and factor VIII, combined deficiency of, type 11 test
  • Factor V deficiency2 tests
  • Factor VII deficiency2 tests
  • Factor X deficiency1 test
  • Factor XII deficiency disease2 tests
  • Factor XIII, A subunit, deficiency of3 tests
  • Factor XIII, b subunit, deficiency of2 tests
  • FADD-related immunodeficiency1 test
  • Familial acute necrotizing encephalopathy1 test
  • Familial adenomatous polyposis 19 tests
  • Familial adenomatous polyposis 27 tests
  • Familial adenomatous polyposis 31 test
  • Familial adenomatous polyposis 41 test
  • Familial amyloid nephropathy with urticaria AND deafness1 test
  • Familial apolipoprotein C-II deficiency2 tests
  • Familial atrial myxoma1 test
  • Familial benign pemphigus2 tests
  • Familial cancer of breast9 tests
  • Familial cold autoinflammatory syndrome 12 tests
  • Familial cold autoinflammatory syndrome 21 test
  • Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome1 test
  • Familial cylindromatosis1 test
  • Familial digital arthropathy-brachydactyly1 test
  • Familial dysautonomia2 tests
  • Familial dysfibrinogenemia2 tests
  • Familial episodic pain syndrome with predominantly upper body involvement1 test
  • Familial expansile osteolysis1 test
  • Familial gestational hyperthyroidism1 test
  • Familial hemophagocytic lymphohistiocytosis 22 tests
  • Familial hemophagocytic lymphohistiocytosis 32 tests
  • Familial hemophagocytic lymphohistiocytosis 42 tests
  • Familial hemophagocytic lymphohistiocytosis 53 tests
  • Familial hyperaldosteronism type III1 test
  • Familial hyperthyroidism due to mutations in TSH receptor2 tests
  • Familial hypobetalipoproteinemia 11 test
  • Familial hypobetalipoproteinemia 21 test
  • Familial hypocalciuric hypercalcemia 15 tests
  • Familial hypocalciuric hypercalcemia 21 test
  • Familial hypocalciuric hypercalcemia 32 tests
  • Familial hypokalemia-hypomagnesemia4 tests
  • Familial hypoparathyroidism2 tests
  • Familial infantile myasthenia3 tests
  • Familial isolated deficiency of vitamin E2 tests
  • Familial juvenile hyperuricemic nephropathy type 14 tests
  • Familial juvenile hyperuricemic nephropathy type 21 test
  • Familial Mediterranean fever5 tests
  • Familial Mediterranean fever, autosomal dominant3 tests
  • Familial medullary thyroid carcinoma3 tests
  • Familial meningioma6 tests
  • Familial multiple trichoepitheliomata1 test
  • Familial partial lipodystrophy, Dunnigan type2 tests
  • Familial porphyria cutanea tarda2 tests
  • Familial pulmonary capillary hemangiomatosis1 test
  • Familial renal glucosuria1 test
  • Familial scaphocephaly syndrome, McGillivray type1 test
  • Familial steroid-resistant nephrotic syndrome with sensorineural deafness2 tests
  • Familial temporal lobe epilepsy 51 test
  • Familial temporal lobe epilepsy 71 test
  • Familial thyroid dyshormonogenesis 13 tests
  • Familial type 3 hyperlipoproteinemia1 test
  • Familial visceral amyloidosis, Ostertag type3 tests
  • Familial X-linked hypophosphatemic vitamin D refractory rickets4 tests
  • Fanconi anemia complementation group A5 tests
  • Fanconi anemia complementation group B4 tests
  • Fanconi anemia complementation group C5 tests
  • Fanconi anemia complementation group D14 tests
  • Fanconi anemia complementation group D23 tests
  • Fanconi anemia complementation group E3 tests
  • Fanconi anemia complementation group F3 tests
  • Fanconi anemia complementation group G4 tests
  • Fanconi anemia complementation group I3 tests
  • Fanconi anemia complementation group J3 tests
  • Fanconi anemia complementation group L3 tests
  • Fanconi anemia complementation group N4 tests
  • Fanconi anemia complementation group O3 tests
  • Fanconi anemia complementation group P3 tests
  • Fanconi anemia complementation group Q2 tests
  • Fanconi anemia complementation group U1 test
  • Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young1 test
  • Fanconi-Bickel syndrome2 tests
  • Farber lipogranulomatosis3 tests
  • Fatal infantile hypertonic myofibrillar myopathy1 test
  • Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 31 test
  • Fatty acyl-CoA reductase 1 deficiency1 test
  • Febrile seizures, familial, 85 tests
  • Feingold syndrome type 12 tests
  • Feingold syndrome type 21 test
  • Fetal akinesia deformation sequence 13 tests
  • Fetal hemoglobin quantitative trait locus 12 tests
  • FG syndrome 14 tests
  • FG syndrome 22 tests
  • FG syndrome 41 test
  • Fibrochondrogenesis 13 tests
  • Fibrochondrogenesis 23 tests
  • Fibrosis of extraocular muscles, congenital, 23 tests
  • Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement2 tests
  • Fibrosis of extraocular muscles, congenital, 52 tests
  • Fibrous dysplasia of jaw1 test
  • Finnish congenital nephrotic syndrome3 tests
  • Fleck corneal dystrophy1 test
  • Floating-Harbor syndrome1 test
  • Focal dermal hypoplasia1 test
  • Focal facial dermal dysplasia type III1 test
  • Focal segmental glomerulosclerosis 12 tests
  • Focal segmental glomerulosclerosis 23 tests
  • Focal segmental glomerulosclerosis 3, susceptibility to3 tests
  • Focal segmental glomerulosclerosis 53 tests
  • Focal segmental glomerulosclerosis 63 tests
  • Focal segmental glomerulosclerosis 71 test
  • Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome1 test
  • Foveal hypoplasia 12 tests
  • Fragile X syndrome2 tests
  • Frank-Ter Haar syndrome1 test
  • Fraser syndrome 14 tests
  • Fraser syndrome 21 test
  • Fraser syndrome 31 test
  • FRAXE2 tests
  • Freeman-Sheldon syndrome2 tests
  • Friedreich ataxia 14 tests
  • Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome2 tests
  • Frontonasal dysplasia with alopecia and genital anomaly2 tests
  • Frontorhiny2 tests
  • Frontotemporal dementia4 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 11 test
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 62 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 72 tests
  • Fructose-biphosphatase deficiency3 tests
  • Fucosidosis3 tests
  • Fuhrmann syndrome2 tests
  • Galactosylceramide beta-galactosidase deficiency5 tests
  • Gamma-aminobutyric acid transaminase deficiency1 test
  • Gastrointestinal stromal tumor3 tests
  • Gaucher disease type I4 tests
  • Gaucher disease type II3 tests
  • Gaucher disease type III3 tests
  • Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome2 tests
  • Gaze palsy, familial horizontal, with progressive scoliosis 12 tests
  • Geleophysic dysplasia 11 test
  • Generalized dominant dystrophic epidermolysis bullosa3 tests
  • Generalized epilepsy with febrile seizures plus, type 15 tests
  • Generalized epilepsy with febrile seizures plus, type 24 tests
  • Generalized epilepsy with febrile seizures plus, type 74 tests
  • Generalized epilepsy-paroxysmal dyskinesia syndrome1 test
  • Generalized juvenile polyposis/juvenile polyposis coli7 tests
  • Generalized pustular psoriasis1 test
  • Genitopatellar syndrome1 test
  • Geroderma osteodysplastica2 tests
  • Giant axonal neuropathy 12 tests
  • Gilbert syndrome1 test
  • Glanzmann thrombasthenia4 tests
  • Glaucoma 1, open angle, A2 tests
  • Glaucoma 1, open angle, F1 test
  • Glaucoma 1, open angle, G2 tests
  • Glaucoma 1, open angle, O1 test
  • Glaucoma 3, primary congenital, D2 tests
  • Glaucoma 3A3 tests
  • Glaucoma, normal tension, susceptibility to1 test
  • Glioma susceptibility 15 tests
  • Glioma susceptibility 22 tests
  • Glioma susceptibility 32 tests
  • Globozoospermia2 tests
  • Glomuvenous malformation1 test
  • Glucocorticoid deficiency 11 test
  • Glucocorticoid deficiency 21 test
  • Glucocorticoid deficiency with achalasia2 tests
  • Glucocorticoid resistance1 test
  • Glucose-6-phosphate transport defect5 tests
  • Glutaric aciduria, type 13 tests
  • Gluthathione synthetase deficiency1 test
  • Glycogen storage disease due to glucose-6-phosphatase deficiency type IA3 tests
  • Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency1 test
  • Glycogen storage disease due to muscle and heart glycogen synthase deficiency2 tests
  • Glycogen storage disease due to muscle beta-enolase deficiency1 test
  • Glycogen storage disease due to phosphoglycerate kinase 1 deficiency1 test
  • Glycogen storage disease IXa13 tests
  • Glycogen storage disease IXb2 tests
  • Glycogen storage disease IXc1 test
  • Glycogen storage disease IXd4 tests
  • Glycogen storage disease type III5 tests
  • Glycogen storage disease type X2 tests
  • Glycogen storage disease XV1 test
  • Glycogen storage disease, type II11 tests
  • Glycogen storage disease, type IV4 tests
  • Glycogen storage disease, type V5 tests
  • Glycogen storage disease, type VI2 tests
  • Glycogen storage disease, type VII3 tests
  • Glycogen storage disorder due to hepatic glycogen synthase deficiency2 tests
  • GM1 gangliosidosis type 23 tests
  • GM1 gangliosidosis type 33 tests
  • GM3 synthase deficiency1 test
  • GNE myopathy4 tests
  • Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors3 tests
  • Goldberg-Shprintzen megacolon syndrome1 test
  • Gordon syndrome1 test
  • Gorlin syndrome5 tests
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative4 tests
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 13 tests
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 24 tests
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 33 tests
  • Granulomatous disease, chronic, X-linked4 tests
  • Greenberg dysplasia2 tests
  • Greig cephalopolysyndactyly syndrome2 tests
  • Griscelli syndrome type 13 tests
  • Griscelli syndrome type 26 tests
  • Griscelli syndrome type 31 test
  • Grn-related frontotemporal lobar degeneration with Tdp43 inclusions4 tests
  • Groenouw corneal dystrophy type I1 test
  • Growth delay due to insulin-like growth factor I resistance2 tests
  • Growth delay due to insulin-like growth factor type 1 deficiency2 tests
  • Growth hormone insensitivity with immune dysregulation 1, autosomal recessive1 test
  • GTP cyclohydrolase I deficiency1 test
  • Guillain-Barre syndrome, familial1 test
  • H syndrome1 test
  • Haim-Munk syndrome1 test
  • Hand-foot-genital syndrome2 tests
  • Hearing loss, X-linked 11 test
  • Hearing loss, X-linked 41 test
  • Hearing loss, X-linked 61 test
  • Hecht syndrome2 tests
  • Heimler syndrome 12 tests
  • Heimler syndrome 22 tests
  • Hemochromatosis type 12 tests
  • Hemochromatosis type 2A2 tests
  • Hemochromatosis type 2B2 tests
  • Hemochromatosis type 34 tests
  • Hemochromatosis type 42 tests
  • Hemochromatosis type 52 tests
  • Hemolytic anemia due to hexokinase deficiency1 test
  • Hemolytic uremic syndrome, atypical, susceptibility to, 15 tests
  • Hennekam lymphangiectasia-lymphedema syndrome 11 test
  • Hepatic adenomas, familial1 test
  • Hereditary acrodermatitis enteropathica1 test
  • Hereditary angioedema type 12 tests
  • Hereditary antithrombin deficiency3 tests
  • Hereditary cerebral amyloid angiopathy, Icelandic type1 test
  • Hereditary coproporphyria3 tests
  • Hereditary cryohydrocytosis with reduced stomatin1 test
  • Hereditary diffuse gastric adenocarcinoma4 tests
  • Hereditary diffuse leukoencephalopathy with spheroids2 tests
  • Hereditary factor IX deficiency disease3 tests
  • Hereditary factor VIII deficiency disease3 tests
  • Hereditary factor XI deficiency disease1 test
  • Hereditary fructosuria4 tests
  • Hereditary hyperferritinemia with congenital cataracts2 tests
  • Hereditary insensitivity to pain with anhidrosis1 test
  • Hereditary intrinsic factor deficiency1 test
  • Hereditary leiomyomatosis and renal cell cancer5 tests
  • Hereditary liability to pressure palsies2 tests
  • Hereditary lymphedema type I3 tests
  • Hereditary motor and sensory neuropathy with optic atrophy3 tests
  • Hereditary myopathy with lactic acidosis due to ISCU deficiency1 test
  • Hereditary neutrophilia1 test
  • Hereditary pancreatitis8 tests
  • Hereditary sensory and autonomic neuropathy type 11 test
  • Hereditary spastic paraplegia 103 tests
  • Hereditary spastic paraplegia 113 tests
  • Hereditary spastic paraplegia 121 test
  • Hereditary spastic paraplegia 133 tests
  • Hereditary spastic paraplegia 152 tests
  • Hereditary spastic paraplegia 174 tests
  • Hereditary spastic paraplegia 182 tests
  • Hereditary spastic paraplegia 24 tests
  • Hereditary spastic paraplegia 303 tests
  • Hereditary spastic paraplegia 313 tests
  • Hereditary spastic paraplegia 356 tests
  • Hereditary spastic paraplegia 393 tests
  • Hereditary spastic paraplegia 3A3 tests
  • Hereditary spastic paraplegia 45 tests
  • Hereditary spastic paraplegia 422 tests
  • Hereditary spastic paraplegia 443 tests
  • Hereditary spastic paraplegia 472 tests
  • Hereditary spastic paraplegia 483 tests
  • Hereditary spastic paraplegia 502 tests
  • Hereditary spastic paraplegia 513 tests
  • Hereditary spastic paraplegia 5A3 tests
  • Hereditary spastic paraplegia 63 tests
  • Hereditary spastic paraplegia 73 tests
  • Hereditary spastic paraplegia 83 tests
  • Hereditary spherocytosis type 12 tests
  • Hereditary spherocytosis type 22 tests
  • Hereditary spherocytosis type 32 tests
  • Hereditary spherocytosis type 42 tests
  • Hereditary spherocytosis type 52 tests
  • Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX13 tests
  • Hereditary xanthinuria type 11 test
  • Hermansky-Pudlak syndrome 13 tests
  • Hermansky-Pudlak syndrome 26 tests
  • Hermansky-Pudlak syndrome 33 tests
  • Hermansky-Pudlak syndrome 43 tests
  • Hermansky-Pudlak syndrome 53 tests
  • Hermansky-Pudlak syndrome 63 tests
  • Hermansky-Pudlak syndrome 73 tests
  • Hermansky-Pudlak syndrome 83 tests
  • Hermansky-Pudlak syndrome 93 tests
  • Heterotaxy, visceral, 1, X-linked1 test
  • Heterotaxy, visceral, 2, autosomal1 test
  • Heterotaxy, visceral, 4, autosomal1 test
  • Heterotaxy, visceral, 5, autosomal3 tests
  • Heterotaxy, visceral, 8, autosomal1 test
  • Heterotopia, periventricular, X-linked dominant1 test
  • Hidrotic ectodermal dysplasia syndrome2 tests
  • Hirschsprung disease, cardiac defects, and autonomic dysfunction2 tests
  • Hirschsprung disease, susceptibility to, 12 tests
  • Hirschsprung disease, susceptibility to, 21 test
  • Hirschsprung disease, susceptibility to, 31 test
  • Hirschsprung disease, susceptibility to, 41 test
  • Histiocytic medullary reticulosis5 tests
  • Holocarboxylase synthetase deficiency1 test
  • Holoprosencephaly 112 tests
  • Holoprosencephaly 22 tests
  • Holoprosencephaly 32 tests
  • Holoprosencephaly 42 tests
  • Holoprosencephaly 52 tests
  • Holoprosencephaly 72 tests
  • Holoprosencephaly 93 tests
  • Holt-Oram syndrome3 tests
  • Homocystinuria due to methylene tetrahydrofolate reductase deficiency2 tests
  • HSD10 mitochondrial disease1 test
  • Human HOXA1 syndromes1 test
  • Hurler syndrome3 tests
  • Hutchinson-Gilford syndrome1 test
  • Hyaline fibromatosis syndrome1 test
  • Hydatidiform mole, recurrent, 11 test
  • Hydrocephalus, nonsyndromic, autosomal recessive 11 test
  • Hydrocephalus, nonsyndromic, autosomal recessive 21 test
  • Hydrolethalus syndrome 11 test
  • Hyper-IgE recurrent infection syndrome 12 tests
  • Hyper-IgM syndrome type 14 tests
  • Hyper-IgM syndrome type 23 tests
  • Hyper-IgM syndrome type 33 tests
  • Hyper-IgM syndrome type 52 tests
  • Hyperaldosteronism, familial, type IV1 test
  • Hyperammonemia, type III1 test
  • Hypercalcemia, infantile, 21 test
  • Hypercholanemia, familial 11 test
  • Hypercholesterolemia, autosomal dominant, 33 tests
  • Hypercholesterolemia, autosomal dominant, type B4 tests
  • Hypercholesterolemia, familial, 13 tests
  • Hypercholesterolemia, familial, 42 tests
  • Hyperekplexia 14 tests
  • Hyperekplexia 23 tests
  • Hyperekplexia 33 tests
  • Hyperglycinuria1 test
  • Hyperimmunoglobulin D with periodic fever4 tests
  • Hyperinsulinemic hypoglycemia, familial, 15 tests
  • Hyperinsulinemic hypoglycemia, familial, 24 tests
  • Hyperinsulinemic hypoglycemia, familial, 43 tests
  • Hyperinsulinism due to glucokinase deficiency3 tests
  • Hyperinsulinism due to INSR deficiency3 tests
  • Hyperinsulinism-hyperammonemia syndrome5 tests
  • Hyperkalemic periodic paralysis5 tests
  • Hyperlipidemia, combined, 11 test
  • Hyperlipoproteinemia, type 1D1 test
  • Hyperlipoproteinemia, type I3 tests
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome3 tests
  • Hyperparathyroidism 2 with jaw tumors2 tests
  • Hyperphosphatasemia with bone disease2 tests
  • Hypertrichotic osteochondrodysplasia Cantu type1 test
  • Hypertriglyceridemia, familial3 tests
  • Hypertrophic cardiomyopathy 14 tests
  • Hypertrophic cardiomyopathy 102 tests
  • Hypertrophic cardiomyopathy 114 tests
  • Hypertrophic cardiomyopathy 122 tests
  • Hypertrophic cardiomyopathy 133 tests
  • Hypertrophic cardiomyopathy 142 tests
  • Hypertrophic cardiomyopathy 152 tests
  • Hypertrophic cardiomyopathy 162 tests
  • Hypertrophic cardiomyopathy 172 tests
  • Hypertrophic cardiomyopathy 183 tests
  • Hypertrophic cardiomyopathy 191 test
  • Hypertrophic cardiomyopathy 25 tests
  • Hypertrophic cardiomyopathy 202 tests
  • Hypertrophic cardiomyopathy 253 tests
  • Hypertrophic cardiomyopathy 263 tests
  • Hypertrophic cardiomyopathy 33 tests
  • Hypertrophic cardiomyopathy 44 tests
  • Hypertrophic cardiomyopathy 64 tests
  • Hypertrophic cardiomyopathy 74 tests
  • Hypertrophic cardiomyopathy 82 tests
  • Hypertrophic cardiomyopathy 94 tests
  • Hypertrophic osteoarthropathy, primary, autosomal recessive, 12 tests
  • Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome1 test
  • Hypoagammaglobulinemia, X-linked1 test
  • Hypochondroplasia5 tests
  • Hypogonadotropic hypogonadism 1 with or without anosmia3 tests
  • Hypogonadotropic hypogonadism 10 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 11 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 12 with or without anosmia2 tests
  • 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 2 with or without anosmia3 tests
  • Hypogonadotropic hypogonadism 24 without anosmia2 tests
  • Hypogonadotropic hypogonadism 3 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 4 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 5 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 6 with or without anosmia4 tests
  • Hypogonadotropic hypogonadism 7 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 8 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 9 with or without anosmia1 test
  • Hypohidrotic X-linked ectodermal dysplasia4 tests
  • Hypokalemic periodic paralysis, type 14 tests
  • Hypokalemic periodic paralysis, type 23 tests
  • Hypomagnesemia, seizures, and intellectual disability 12 tests
  • Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism1 test
  • Hypomyelinating leukodystrophy 22 tests
  • Hypomyelinating leukodystrophy 31 test
  • Hypomyelinating leukodystrophy 42 tests
  • Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism3 tests
  • Hypomyelination and Congenital Cataract3 tests
  • Hypoparathyroidism, deafness, renal disease syndrome2 tests
  • Hypoparathyroidism-retardation-dysmorphism syndrome1 test
  • Hypophosphatemic nephrolithiasis/osteoporosis 12 tests
  • Hypophosphatemic nephrolithiasis/osteoporosis 21 test
  • Hypophosphatemic rickets, autosomal recessive, 13 tests
  • Hypophosphatemic rickets, autosomal recessive, 22 tests
  • Hypophosphatemic rickets, X-linked recessive1 test
  • Hypoplastic enamel-onycholysis-hypohidrosis syndrome1 test
  • Hypoplastic left heart syndrome 11 test
  • Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome1 test
  • Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration1 test
  • Hypospadias 1, X-linked1 test
  • Hypospadias 2, X-linked1 test
  • Hypothryoidism, congenital, nongoitrous 42 tests
  • Hypothyroidism due to TSH receptor mutations3 tests
  • Hypothyroidism, congenital, nongoitrous, 21 test
  • Hypothyroidism, congenital, nongoitrous, 52 tests
  • Hypotrichosis 11 test
  • Hypotrichosis 121 test
  • Hypotrichosis 21 test
  • Hypotrichosis 31 test
  • Hypotrichosis 41 test
  • Hypotrichosis 61 test
  • Hypotrichosis 71 test
  • Hypotrichosis 81 test
  • Hypotrichosis-lymphedema-telangiectasia syndrome2 tests
  • Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome1 test
  • Hypouricemia, renal, 21 test
  • Ichthyosis bullosa of Siemens2 tests
  • Ichthyosis hystrix of Curth-Macklin1 test
  • Ichthyosis prematurity syndrome1 test
  • Ichthyosis vulgaris3 tests
  • Idiopathic basal ganglia calcification 11 test
  • Idiopathic CD4 lymphocytopenia1 test
  • Idiopathic Pulmonary Fibrosis1 test
  • IFAP syndrome with or without BRESHECK syndrome1 test
  • IgE responsiveness, atopic1 test
  • IL21-related infantile inflammatory bowel disease2 tests
  • Imerslund-Grasbeck syndrome3 tests
  • Iminoglycinuria1 test
  • Immunodeficiency 1042 tests
  • Immunodeficiency 142 tests
  • Immunodeficiency 181 test
  • Immunodeficiency 191 test
  • Immunodeficiency 31B2 tests
  • Immunodeficiency 332 tests
  • Immunodeficiency 361 test
  • Immunodeficiency 511 test
  • Immunodeficiency due to CD25 deficiency1 test
  • Immunodeficiency without anhidrotic ectodermal dysplasia1 test
  • Immunodeficiency, common variable, 13 tests
  • Immunodeficiency, common variable, 121 test
  • Immunodeficiency, common variable, 22 tests
  • Immunodeficiency, common variable, 41 test
  • Immunodeficiency, common variable, 51 test
  • Immunodeficiency, common variable, 61 test
  • Immunodeficiency, common variable, 71 test
  • Immunoglobulin-mediated membranoproliferative glomerulonephritis2 tests
  • Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 12 tests
  • Incontinentia pigmenti syndrome3 tests
  • Infantile convulsions and choreoathetosis1 test
  • Infantile GM1 gangliosidosis3 tests
  • Infantile hypophosphatasia3 tests
  • Infantile nephronophthisis2 tests
  • Infantile neuroaxonal dystrophy3 tests
  • Infantile onset spinocerebellar ataxia1 test
  • Infantile-onset ascending hereditary spastic paralysis3 tests
  • Infantile-onset X-linked spinal muscular atrophy5 tests
  • Infertility associated with multi-tailed spermatozoa and excessive DNA1 test
  • Inflammatory bowel disease 14 tests
  • Inflammatory bowel disease 101 test
  • Inflammatory bowel disease 131 test
  • Inflammatory bowel disease 171 test
  • Inflammatory bowel disease 181 test
  • Inflammatory bowel disease 191 test
  • Inflammatory bowel disease 251 test
  • Inflammatory bowel disease 281 test
  • Inflammatory skin and bowel disease, neonatal, 11 test
  • Inherited Creutzfeldt-Jakob disease1 test
  • Inherited susceptibility to asthma2 tests
  • Inosine triphosphatase deficiency1 test
  • Insulin-dependent diabetes mellitus secretory diarrhea syndrome2 tests
  • Intellectual disability, anterior maxillary protrusion, and strabismus2 tests
  • Intellectual disability, autosomal dominant 13 tests
  • Intellectual disability, autosomal dominant 102 tests
  • Intellectual disability, autosomal dominant 112 tests
  • Intellectual disability, autosomal dominant 135 tests
  • Intellectual disability, autosomal dominant 144 tests
  • Intellectual disability, autosomal dominant 153 tests
  • Intellectual disability, autosomal dominant 163 tests
  • Intellectual disability, autosomal dominant 204 tests
  • Intellectual disability, autosomal dominant 222 tests
  • Intellectual disability, autosomal dominant 242 tests
  • Intellectual disability, autosomal dominant 292 tests
  • Intellectual disability, autosomal dominant 32 tests
  • Intellectual disability, autosomal dominant 302 tests
  • Intellectual disability, autosomal dominant 333 tests
  • Intellectual disability, autosomal dominant 392 tests
  • Intellectual disability, autosomal dominant 43 tests
  • Intellectual disability, autosomal dominant 412 tests
  • Intellectual disability, autosomal dominant 422 tests
  • Intellectual disability, autosomal dominant 53 tests
  • Intellectual disability, autosomal dominant 63 tests
  • Intellectual disability, autosomal dominant 83 tests
  • Intellectual disability, autosomal dominant 92 tests
  • Intellectual disability, autosomal recessive 12 tests
  • Intellectual disability, autosomal recessive 122 tests
  • Intellectual disability, autosomal recessive 132 tests
  • Intellectual disability, autosomal recessive 142 tests
  • Intellectual disability, autosomal recessive 182 tests
  • Intellectual disability, autosomal recessive 22 tests
  • Intellectual disability, autosomal recessive 272 tests
  • Intellectual disability, autosomal recessive 32 tests
  • Intellectual disability, autosomal recessive 342 tests
  • Intellectual disability, autosomal recessive 432 tests
  • Intellectual disability, autosomal recessive 462 tests
  • Intellectual disability, autosomal recessive 472 tests
  • Intellectual disability, autosomal recessive 52 tests
  • Intellectual disability, autosomal recessive 562 tests
  • Intellectual disability, autosomal recessive 62 tests
  • Intellectual disability, autosomal recessive 73 tests
  • Intellectual disability, X-linked 192 tests
  • Intellectual disability, X-linked 212 tests
  • Intellectual disability, X-linked 302 tests
  • Intellectual disability, X-linked 412 tests
  • Intellectual disability, X-linked 451 test
  • Intellectual disability, X-linked 462 tests
  • Intellectual disability, X-linked 582 tests
  • Intellectual disability, X-linked 632 tests
  • Intellectual disability, X-linked 721 test
  • Intellectual disability, X-linked 881 test
  • Intellectual disability, X-linked 891 test
  • Intellectual disability, X-linked 92 tests
  • Intellectual disability, X-linked 902 tests
  • Intellectual disability, X-linked 921 test
  • Intellectual disability, X-linked 932 tests
  • Intellectual disability, X-linked 962 tests
  • Intellectual disability, X-linked 972 tests
  • Intellectual disability, X-linked syndromic, Turner type2 tests
  • Intellectual disability, X-linked, with or without seizures, arx-related4 tests
  • Intellectual disability, X-linked, with panhypopituitarism2 tests
  • Intellectual disability-hypotonia-spasticity-sleep disorder syndrome2 tests
  • Intellectual disability-hypotonic facies syndrome, X-linked, 13 tests
  • Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome2 tests
  • Intellectual disability-severe speech delay-mild dysmorphism syndrome3 tests
  • Interstitial lung disease due to ABCA3 deficiency3 tests
  • Intestinal hypomagnesemia 12 tests
  • Intracerebral hemorrhage1 test
  • Iodotyrosine deiodination defect3 tests
  • Iodotyrosyl coupling defect3 tests
  • Irido-corneo-trabecular dysgenesis2 tests
  • Isolated focal non-epidermolytic palmoplantar keratoderma1 test
  • Isolated growth hormone deficiency type IB3 tests
  • Isolated lutropin deficiency1 test
  • Isolated microphthalmia 23 tests
  • Isolated microphthalmia 31 test
  • Isolated microphthalmia 41 test
  • Isolated microphthalmia 51 test
  • Isolated microphthalmia 61 test
  • Isolated microphthalmia 71 test
  • Isovaleryl-CoA dehydrogenase deficiency2 tests
  • Jackson-Weiss syndrome3 tests
  • Jalili syndrome1 test
  • Jervell and Lange-Nielsen syndrome 11 test
  • Jervell and Lange-Nielsen syndrome 21 test
  • Johanson-Blizzard syndrome1 test
  • Joubert syndrome 12 tests
  • Joubert syndrome 102 tests
  • Joubert syndrome 141 test
  • Joubert syndrome 151 test
  • Joubert syndrome 161 test
  • Joubert syndrome 171 test
  • Joubert syndrome 22 tests
  • Joubert syndrome 33 tests
  • Joubert syndrome 52 tests
  • Joubert syndrome 61 test
  • Joubert syndrome 73 tests
  • Joubert syndrome 82 tests
  • Joubert syndrome 92 tests
  • Junctional epidermolysis bullosa gravis of Herlitz5 tests
  • Junctional epidermolysis bullosa with pyloric atresia2 tests
  • Junctional epidermolysis bullosa, non-Herlitz type5 tests
  • Juvenile cataract-microcornea-renal glucosuria syndrome1 test
  • Juvenile myelomonocytic leukemia2 tests
  • Juvenile myoclonic epilepsy3 tests
  • Juvenile nephropathic cystinosis4 tests
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome5 tests
  • Juvenile retinoschisis2 tests
  • Kabuki syndrome 13 tests
  • Kabuki syndrome 23 tests
  • Kartagener syndrome2 tests
  • KBG syndrome2 tests
  • Keratoconus 12 tests
  • Keratosis follicularis1 test
  • Keratosis follicularis spinulosa decalvans, X-linked2 tests
  • Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome1 test
  • Keratosis palmoplantaris striata 31 test
  • Keutel syndrome1 test
  • Kindler syndrome1 test
  • Kleefstra syndrome 13 tests
  • Klippel-Feil syndrome 1, autosomal dominant2 tests
  • Klippel-Feil syndrome 2, autosomal recessive2 tests
  • Klippel-Feil syndrome 3, autosomal dominant2 tests
  • Kniest dysplasia2 tests
  • Koolen-de Vries syndrome3 tests
  • Kostmann syndrome4 tests
  • Krabbe disease, atypical, due to saposin A deficiency1 test
  • Kufor-Rakeb syndrome3 tests
  • Kugelberg-Welander disease3 tests
  • Lafora disease5 tests
  • Lamb-Shaffer syndrome1 test
  • LAMB2-related infantile-onset nephrotic syndrome2 tests
  • Landau-Kleffner syndrome1 test
  • Laron-type isolated somatotropin defect1 test
  • Larsen syndrome4 tests
  • Larsen-like syndrome, B3GAT3 type1 test
  • Late-onset retinal degeneration1 test
  • Lattice corneal dystrophy Type I2 tests
  • Lattice corneal dystrophy Type III1 test
  • LCAT deficiency1 test
  • Leber congenital amaurosis 12 tests
  • Leber congenital amaurosis 102 tests
  • Leber congenital amaurosis 111 test
  • Leber congenital amaurosis 121 test
  • Leber congenital amaurosis 135 tests
  • Leber congenital amaurosis 143 tests
  • Leber congenital amaurosis 151 test
  • Leber congenital amaurosis 161 test
  • Leber congenital amaurosis 22 tests
  • Leber congenital amaurosis 33 tests
  • Leber congenital amaurosis 42 tests
  • Leber congenital amaurosis 51 test
  • Leber congenital amaurosis 62 tests
  • Leber congenital amaurosis 71 test
  • Leber congenital amaurosis 81 test
  • Leber congenital amaurosis 91 test
  • Left ventricular noncompaction 12 tests
  • Left ventricular noncompaction 104 tests
  • Legius syndrome4 tests
  • Leigh syndrome1 test
  • LEOPARD syndrome 17 tests
  • LEOPARD syndrome 22 tests
  • LEOPARD syndrome 33 tests
  • Leprechaunism syndrome1 test
  • Leri-Weill dyschondrosteosis2 tests
  • Lesch-Nyhan syndrome3 tests
  • Lethal congenital contracture syndrome 12 tests
  • Lethal congenital glycogen storage disease of heart2 tests
  • Lethal Kniest-like syndrome1 test
  • Lethal multiple pterygium syndrome1 test
  • Lethal osteosclerotic bone dysplasia1 test
  • Lethal tight skin contracture syndrome2 tests
  • Leukocyte adhesion deficiency 11 test
  • Leukocyte adhesion deficiency type II2 tests
  • Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome2 tests
  • Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome1 test
  • Levy-Hollister syndrome1 test
  • Leydig cell agenesis2 tests
  • Li-Fraumeni syndrome 16 tests
  • Li-Fraumeni syndrome 23 tests
  • Liddle syndrome 13 tests
  • Linear skin defects with multiple congenital anomalies 11 test
  • Lipase deficiency, combined3 tests
  • Lissencephaly 43 tests
  • Lissencephaly due to LIS1 mutation5 tests
  • Lissencephaly due to TUBA1A mutation4 tests
  • Lissencephaly type 1 due to doublecortin gene mutation4 tests
  • Loeys-Dietz syndrome 16 tests
  • Loeys-Dietz syndrome 26 tests
  • Loeys-Dietz syndrome 43 tests
  • Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency2 tests
  • Long QT syndrome 15 tests
  • Long QT syndrome 104 tests
  • Long QT syndrome 113 tests
  • Long QT syndrome 123 tests
  • Long QT syndrome 132 tests
  • Long QT syndrome 142 tests
  • Long QT syndrome 25 tests
  • Long QT syndrome 34 tests
  • Long QT syndrome 54 tests
  • Long QT syndrome 64 tests
  • Long QT syndrome 93 tests
  • Loricrin keratoderma3 tests
  • Lowe syndrome3 tests
  • Lung carcinoma3 tests
  • Lymphangiomyomatosis2 tests
  • Lymphatic malformation 31 test
  • Lymphatic malformation 41 test
  • Lymphoproliferative syndrome 13 tests
  • Lymphoproliferative syndrome 21 test
  • Lynch syndrome 19 tests
  • Lysinuric protein intolerance2 tests
  • Lysosomal acid lipase deficiency3 tests
  • Macrocephaly and epileptic encephalopathy1 test
  • Macrocephaly-autism syndrome1 test
  • Macrocephaly-developmental delay syndrome1 test
  • Macroglobulinemia, Waldenstrom, 11 test
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss2 tests
  • Macular corneal dystrophy1 test
  • Macular degeneration, age-related, 31 test
  • Macular degeneration, early-onset1 test
  • Majeed syndrome2 tests
  • Malan overgrowth syndrome2 tests
  • Malignant hyperthermia, susceptibility to, 16 tests
  • Malignant hyperthermia, susceptibility to, 51 test
  • Malignant tumor of prostate2 tests
  • Malignant tumor of urinary bladder2 tests
  • Mandibuloacral dysplasia with type B lipodystrophy1 test
  • Mandibulofacial dysostosis-microcephaly syndrome2 tests
  • Mannose-binding lectin deficiency1 test
  • Maple syrup urine disease2 tests
  • Marfan syndrome6 tests
  • Marinesco-Sjögren syndrome4 tests
  • Marshall syndrome1 test
  • Marshall-Smith syndrome2 tests
  • MASA syndrome3 tests
  • Mast syndrome1 test
  • Mastocytosis1 test
  • Maternal riboflavin deficiency1 test
  • Matthew-Wood syndrome2 tests
  • Maturity-onset diabetes of the young type 14 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 131 test
  • Maturity-onset diabetes of the young type 24 tests
  • Maturity-onset diabetes of the young type 33 tests
  • Maturity-onset diabetes of the young type 43 tests
  • Maturity-onset diabetes of the young type 63 tests
  • Maturity-onset diabetes of the young type 73 tests
  • Maturity-onset diabetes of the young type 81 test
  • Maturity-onset diabetes of the young type 92 tests
  • McCune-Albright syndrome3 tests
  • McKusick-Kaufman syndrome1 test
  • McLeod neuroacanthocytosis syndrome2 tests
  • Meckel syndrome, type 12 tests
  • Meckel syndrome, type 101 test
  • Meckel syndrome, type 22 tests
  • Meckel syndrome, type 32 tests
  • Meckel syndrome, type 41 test
  • Meckel syndrome, type 52 tests
  • Meckel syndrome, type 62 tests
  • Meckel syndrome, type 81 test
  • Meckel syndrome, type 91 test
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency4 tests
  • MEDNIK syndrome1 test
  • Medulloblastoma2 tests
  • Megaconial type congenital muscular dystrophy1 test
  • Megalencephalic leukoencephalopathy with subcortical cysts 14 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 2A3 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 14 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 24 tests
  • Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness3 tests
  • MEGF10-Related Myopathy1 test
  • Meier-Gorlin syndrome 13 tests
  • Meier-Gorlin syndrome 22 tests
  • Meier-Gorlin syndrome 32 tests
  • Meier-Gorlin syndrome 42 tests
  • Meier-Gorlin syndrome 52 tests
  • Melanoma and neural system tumor syndrome1 test
  • Melanoma, cutaneous malignant, susceptibility to, 12 tests
  • Melanoma, cutaneous malignant, susceptibility to, 24 tests
  • Melanoma, cutaneous malignant, susceptibility to, 33 tests
  • Melanoma, cutaneous malignant, susceptibility to, 52 tests
  • Melanoma, cutaneous malignant, susceptibility to, 82 tests
  • Melanoma, cutaneous malignant, susceptibility to, 91 test
  • Melanoma-pancreatic cancer syndrome2 tests
  • Melnick-Needles syndrome1 test
  • Melorheostosis1 test
  • MEND syndrome1 test
  • Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency1 test
  • Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency2 tests
  • Menkes kinky-hair syndrome2 tests
  • Meretoja syndrome2 tests
  • Merosin deficient congenital muscular dystrophy5 tests
  • Metachromatic leukodystrophy4 tests
  • Metaphyseal anadysplasia 22 tests
  • Metaphyseal chondrodysplasia, Jansen type4 tests
  • Metaphyseal chondrodysplasia, McKusick type2 tests
  • Metaphyseal chondrodysplasia, Schmid type3 tests
  • Metaphyseal chondrodysplasia, Spahr type2 tests
  • Metaphyseal dysplasia without hypotrichosis2 tests
  • Metatropic dysplasia1 test
  • Methylcobalamin deficiency type cblG1 test
  • Methylmalonic acidemia due to transcobalamin receptor defect1 test
  • Methylmalonic acidemia with homocystinuria, type cblJ2 tests
  • Methylmalonic aciduria and homocystinuria type cblD2 tests
  • Methylmalonic aciduria and homocystinuria type cblF3 tests
  • Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency3 tests
  • Methylmalonic aciduria, cblA type2 tests
  • Methylmalonic aciduria, cblB type3 tests
  • MGAT2-congenital disorder of glycosylation1 test
  • MHC class II deficiency4 tests
  • Microcephalic osteodysplastic primordial dwarfism type II2 tests
  • Microcephaly 1, primary, autosomal recessive2 tests
  • Microcephaly 12, primary, autosomal recessive1 test
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations3 tests
  • Microcephaly 3, primary, autosomal recessive1 test
  • Microcephaly 4, primary, autosomal recessive1 test
  • Microcephaly 5, primary, autosomal recessive4 tests
  • Microcephaly 6, primary, autosomal recessive1 test
  • Microcephaly 8, primary, autosomal recessive1 test
  • Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability1 test
  • Microcephaly, normal intelligence and immunodeficiency6 tests
  • Microcephaly, seizures, and developmental delay3 tests
  • Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome2 tests
  • Microcephaly-thin corpus callosum-intellectual disability syndrome2 tests
  • Microcornea-myopic chorioretinal atrophy1 test
  • Microcytic anemia1 test
  • Microcytic anemia with liver iron overload1 test
  • Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome2 tests
  • Microphthalmia with brain and digit anomalies1 test
  • Microphthalmia, isolated, with coloboma 32 tests
  • Microphthalmia, isolated, with coloboma 61 test
  • Microphthalmia, isolated, with coloboma 71 test
  • Microphthalmia, syndromic 111 test
  • Microspherophakia2 tests
  • Microvascular complications of diabetes, susceptibility to, 11 test
  • Migraine, familial hemiplegic, 15 tests
  • Migraine, familial hemiplegic, 24 tests
  • Migraine, familial hemiplegic, 33 tests
  • Miller syndrome1 test
  • Mirror movements 11 test
  • Mirror movements 21 test
  • Mitochondrial complex I deficiency1 test
  • Mitochondrial complex II deficiency, nuclear type 11 test
  • Mitochondrial complex V (ATP synthase) deficiency nuclear type 21 test
  • Mitochondrial DNA deletion syndrome with progressive myopathy1 test
  • Mitochondrial DNA depletion syndrome 12 tests
  • Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant2 tests
  • Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive2 tests
  • Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)1 test
  • Mitochondrial DNA depletion syndrome 32 tests
  • Mitochondrial DNA depletion syndrome 4b1 test
  • Mitochondrial DNA depletion syndrome 8a1 test
  • Mitochondrial DNA depletion syndrome 91 test
  • Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria1 test
  • Mitochondrial DNA depletion syndrome, myopathic form1 test
  • Mitochondrial trifunctional protein deficiency2 tests
  • Miyoshi muscular dystrophy 11 test
  • Miyoshi muscular dystrophy 31 test
  • MOGS-congenital disorder of glycosylation1 test
  • Monocytopenia with susceptibility to infections2 tests
  • Mosaic variegated aneuploidy syndrome 11 test
  • Mosaic variegated aneuploidy syndrome 21 test
  • Mowat-Wilson syndrome3 tests
  • Moyamoya disease 22 tests
  • Moyamoya disease 54 tests
  • MPDU1-congenital disorder of glycosylation1 test
  • MPI-congenital disorder of glycosylation2 tests
  • Mucolipidosis type II3 tests
  • Mucolipidosis type III gamma5 tests
  • Mucolipidosis type IV3 tests
  • Mucopolysaccharidosis type 64 tests
  • Mucopolysaccharidosis type 74 tests
  • Mucopolysaccharidosis, MPS-I-H/S4 tests
  • Mucopolysaccharidosis, MPS-I-S3 tests
  • Mucopolysaccharidosis, MPS-II4 tests
  • Mucopolysaccharidosis, MPS-III-A4 tests
  • Mucopolysaccharidosis, MPS-III-B4 tests
  • Mucopolysaccharidosis, MPS-III-C4 tests
  • Mucopolysaccharidosis, MPS-III-D4 tests
  • Mucopolysaccharidosis, MPS-IV-A4 tests
  • Mucopolysaccharidosis, MPS-IV-B4 tests
  • Muenke syndrome2 tests
  • Muir-Torré syndrome1 test
  • Mulibrey nanism syndrome1 test
  • Mullerian aplasia and hyperandrogenism1 test
  • Multicentric osteolysis, nodulosis, and arthropathy1 test
  • Multiple acyl-CoA dehydrogenase deficiency5 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 11 test
  • Multiple congenital anomalies-hypotonia-seizures syndrome 23 tests
  • Multiple congenital exostosis2 tests
  • Multiple endocrine neoplasia type 41 test
  • Multiple endocrine neoplasia, type 15 tests
  • Multiple endocrine neoplasia, type 2a4 tests
  • Multiple endocrine neoplasia, type 2b3 tests
  • Multiple epiphyseal dysplasia type 12 tests
  • Multiple epiphyseal dysplasia type 42 tests
  • Multiple epiphyseal dysplasia type 52 tests
  • Multiple epiphyseal dysplasia, Beighton type2 tests
  • Multiple fibrofolliculomas4 tests
  • Multiple gastrointestinal atresias1 test
  • Multiple sulfatase deficiency4 tests
  • Multiple synostoses syndrome 21 test
  • Multiple synostoses syndrome 32 tests
  • Multiple system atrophy1 test
  • Multisystemic smooth muscle dysfunction syndrome2 tests
  • Muscle AMP deaminase deficiency3 tests
  • Muscle eye brain disease5 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 101 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 111 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 121 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 44 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 73 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A16 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A132 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A141 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A24 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A55 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A64 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A94 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B13 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B23 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B34 tests
  • Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B44 tests
  • Muscular dystrophy-dystroglycanopathy type B54 tests
  • Muscular dystrophy-dystroglycanopathy type B64 tests
  • Myasthenic syndrome, congenital, 1B, fast-channel4 tests
  • Myasthenic syndrome, slow-channel congenital5 tests
  • Myelodysplastic syndrome6 tests
  • Myelofibrosis2 tests
  • Myhre syndrome1 test
  • Myoclonic dystonia 118 tests
  • Myofibrillar myopathy 22 tests
  • Myofibrillar myopathy 35 tests
  • Myofibrillar myopathy 42 tests
  • Myofibrillar myopathy 53 tests
  • Myofibrillar myopathy 62 tests
  • Myofibromatosis, infantile, 11 test
  • Myoglobinuria, acute recurrent, autosomal recessive2 tests
  • Myopathy, centronuclear, 23 tests
  • Myopathy, centronuclear, 32 tests
  • Myopathy, lactic acidosis, and sideroblastic anemia 11 test
  • Myopathy, lactic acidosis, and sideroblastic anemia 21 test
  • Myopathy, myosin storage, autosomal recessive3 tests
  • Myopathy, proximal, and ophthalmoplegia1 test
  • Myopathy, reducing body, X-linked, childhood-onset1 test
  • Myopathy, reducing body, X-linked, early-onset, severe1 test
  • Myopia, high, with cataract and vitreoretinal degeneration1 test
  • Myosin storage myopathy4 tests
  • Naegeli-Franceschetti-Jadassohn syndrome1 test
  • Nager syndrome1 test
  • Nail-patella syndrome2 tests
  • Namaqualand hip dysplasia2 tests
  • Nance-Horan syndrome1 test
  • Nanophthalmos 21 test
  • Nasopharyngeal carcinoma1 test
  • Navajo neurohepatopathy2 tests
  • Nemaline myopathy 16 tests
  • Nemaline myopathy 23 tests
  • Nemaline myopathy 44 tests
  • Nemaline myopathy 53 tests
  • Nemaline myopathy 61 test
  • Nemaline myopathy 72 tests
  • Neonatal acute respiratory distress due to SP-B deficiency3 tests
  • Neonatal diabetes mellitus with congenital hypothyroidism1 test
  • Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome1 test
  • Neonatal ichthyosis-sclerosing cholangitis syndrome1 test
  • Neonatal intrahepatic cholestasis due to citrin deficiency1 test
  • Neoplasm of ovary1 test
  • Nephronophthisis 13 tests
  • Nephronophthisis 131 test
  • Nephronophthisis 32 tests
  • Nephronophthisis 42 tests
  • Nephronophthisis 72 tests
  • Nephronophthisis 92 tests
  • Nephropathic cystinosis5 tests
  • Nephrotic syndrome, type 23 tests
  • Nephrotic syndrome, type 33 tests
  • Nephrotic syndrome, type 45 tests
  • Nephrotic syndrome, type 61 test
  • Nephrotic syndrome, type 81 test
  • Nestor-Guillermo progeria syndrome1 test
  • Netherton syndrome3 tests
  • Neural tube defect1 test
  • Neural tube defects, folate-sensitive1 test
  • Neuroblastoma1 test
  • Neuroblastoma, susceptibility to, 22 tests
  • Neuroblastoma, susceptibility to, 33 tests
  • Neurodegeneration with brain iron accumulation 2B3 tests
  • Neurodegeneration with brain iron accumulation 43 tests
  • Neurodegeneration with brain iron accumulation 52 tests
  • Neurodegeneration with brain iron accumulation 61 test
  • Neuroferritinopathy2 tests
  • Neurofibromatosis, type 18 tests
  • Neurofibromatosis, type 24 tests
  • Neurogenic scapuloperoneal syndrome, Kaeser type1 test
  • Neurohypophyseal diabetes insipidus1 test
  • Neuronal ceroid lipofuscinosis 15 tests
  • Neuronal ceroid lipofuscinosis 104 tests
  • Neuronal ceroid lipofuscinosis 112 tests
  • Neuronal ceroid lipofuscinosis 131 test
  • Neuronal ceroid lipofuscinosis 25 tests
  • Neuronal ceroid lipofuscinosis 34 tests
  • Neuronal ceroid lipofuscinosis 53 tests
  • Neuronal ceroid lipofuscinosis 74 tests
  • Neuronal ceroid lipofuscinosis 85 tests
  • Neuronal ceroid lipofuscinosis 8 northern epilepsy variant4 tests
  • Neuronopathy, distal hereditary motor, type 2A3 tests
  • Neuronopathy, distal hereditary motor, type 2B3 tests
  • Neuronopathy, distal hereditary motor, type 5A6 tests
  • Neuronopathy, distal hereditary motor, type 5B2 tests
  • Neuronopathy, distal hereditary motor, type 7A1 test
  • Neuronopathy, distal hereditary motor, type 7B1 test
  • Neuropathy, hereditary motor and sensory, type 6B1 test
  • Neuropathy, hereditary sensory and autonomic, type 1C1 test
  • Neutral 1 amino acid transport defect1 test
  • Neutral lipid storage myopathy3 tests
  • Neutropenia, severe congenital, 1, autosomal dominant5 tests
  • Neutropenia, severe congenital, 2, autosomal dominant4 tests
  • Neutrophil immunodeficiency syndrome3 tests
  • Newfoundland cone-rod dystrophy1 test
  • Nicolaides-Baraitser syndrome1 test
  • Niemann-Pick disease, type A3 tests
  • Niemann-Pick disease, type B3 tests
  • Niemann-Pick disease, type C15 tests
  • Niemann-Pick disease, type C24 tests
  • Non-acquired combined pituitary hormone deficiency with spine abnormalities3 tests
  • Non-Hodgkin lymphoma1 test
  • Non-ketotic hyperglycinemia5 tests
  • Nonimmune chronic idiopathic neutropenia of adults1 test
  • Nonpapillary renal cell carcinoma2 tests
  • Noonan syndrome 15 tests
  • Noonan syndrome 31 test
  • Noonan syndrome 43 tests
  • Noonan syndrome 52 tests
  • Noonan syndrome 62 tests
  • Noonan syndrome 73 tests
  • Noonan syndrome 81 test
  • Noonan syndrome-like disorder with loose anagen hair 13 tests
  • Norman-Roberts syndrome4 tests
  • NPHP3-related Meckel-like syndrome1 test
  • Nystagmus 1, congenital, X-linked1 test
  • Obesity7 tests
  • Obesity due to congenital leptin deficiency2 tests
  • Obesity due to leptin receptor gene deficiency2 tests
  • Obesity due to prohormone convertase I deficiency1 test
  • Obsessive-compulsive disorder2 tests
  • Occipital pachygyria and polymicrogyria2 tests
  • Occult macular dystrophy1 test
  • Ocular albinism with congenital sensorineural hearing loss1 test
  • Ocular albinism, type I3 tests
  • Ocular cystinosis3 tests
  • Oculocerebrofacial syndrome, Kaufman type1 test
  • Oculocutaneous albinism type 1B3 tests
  • Oculocutaneous albinism type 33 tests
  • Oculocutaneous albinism type 43 tests
  • Oculocutaneous albinism type 72 tests
  • Oculofaciocardiodental syndrome3 tests
  • Oculopharyngeal muscular dystrophy1 test
  • Odonto-onycho-dermal dysplasia2 tests
  • Oguchi disease1 test
  • Oguchi disease-22 tests
  • Optic atrophy 32 tests
  • Optic atrophy 91 test
  • Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy2 tests
  • Optic nerve hypoplasia, bilateral2 tests
  • Ornithine aminotransferase deficiency1 test
  • Ornithine carbamoyltransferase deficiency4 tests
  • Orofacial cleft 111 test
  • Orofaciodigital syndrome I1 test
  • Orotic aciduria1 test
  • Osteochondritis dissecans1 test
  • Osteodysplastic primordial dwarfism, type 12 tests
  • Osteogenesis imperfecta type 101 test
  • Osteogenesis imperfecta type 111 test
  • Osteogenesis imperfecta type 121 test
  • Osteogenesis imperfecta type 131 test
  • Osteogenesis imperfecta type 141 test
  • Osteogenesis imperfecta type 151 test
  • Osteogenesis imperfecta type 52 tests
  • Osteogenesis imperfecta type 61 test
  • Osteogenesis imperfecta type 72 tests
  • Osteogenesis imperfecta type 82 tests
  • Osteogenesis imperfecta type 91 test
  • Osteogenesis imperfecta type I5 tests
  • Osteogenesis imperfecta type III6 tests
  • Osteogenesis imperfecta with normal sclerae, dominant form6 tests
  • Osteogenesis imperfecta, recessive perinatal lethal6 tests
  • Osteopathia striata with cranial sclerosis1 test
  • Osteopetrosis with renal tubular acidosis3 tests
  • Osteoporosis with pseudoglioma2 tests
  • Oto-palato-digital syndrome, type I2 tests
  • Oto-palato-digital syndrome, type II1 test
  • Otofaciocervical syndrome 12 tests
  • Otospondylomegaepiphyseal dysplasia, autosomal dominant4 tests
  • Otospondylomegaepiphyseal dysplasia, autosomal recessive2 tests
  • Ovarian dysgenesis 11 test
  • Ovarian dysgenesis 22 tests
  • Ovarian dysgenesis 31 test
  • Pachyonychia congenita 12 tests
  • Pachyonychia congenita 22 tests
  • Pachyonychia congenita 32 tests
  • Pachyonychia congenita 42 tests
  • Paget disease of bone 2, early-onset2 tests
  • Paget disease of bone 33 tests
  • Pallister-Hall syndrome3 tests
  • Palmoplantar keratoderma, Bothnian type1 test
  • Palmoplantar keratoderma, nonepidermolytic, focal 11 test
  • Palmoplantar keratoderma-esophageal carcinoma syndrome1 test
  • Pancreatic agenesis 12 tests
  • Pancreatic agenesis 22 tests
  • Pancreatic cancer, susceptibility to, 22 tests
  • Pancreatic cancer, susceptibility to, 32 tests
  • Pancreatic cancer, susceptibility to, 42 tests
  • Pancreatic hypoplasia-diabetes-congenital heart disease syndrome1 test
  • Pancreatic insufficiency-anemia-hyperostosis syndrome1 test
  • Pancreatic triacylglycerol lipase deficiency1 test
  • Panhypopituitarism, X-linked1 test
  • Papillon-Lefèvre syndrome1 test
  • Paragangliomas 14 tests
  • Paragangliomas 25 tests
  • Paragangliomas 35 tests
  • Paragangliomas 45 tests
  • Paragangliomas 53 tests
  • Paramyotonia congenita of Von Eulenburg3 tests
  • Parathyroid carcinoma1 test
  • Parietal foramina with cleidocranial dysplasia1 test
  • Parkes Weber syndrome1 test
  • Parkinson disease 171 test
  • Parkinson disease 5, autosomal dominant, susceptibility to1 test
  • Parkinsonian-pyramidal syndrome1 test
  • Parkinsonism-dystonia, infantile, 11 test
  • Paroxysmal extreme pain disorder1 test
  • Paroxysmal nocturnal hemoglobinuria 11 test
  • Paroxysmal nonkinesigenic dyskinesia 11 test
  • Partial albinism2 tests
  • Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome1 test
  • Patterned macular dystrophy 12 tests
  • PCWH syndrome1 test
  • Peeling skin syndrome 11 test
  • Pelizaeus-Merzbacher disease3 tests
  • Pelviscapular dysplasia1 test
  • Pendred syndrome5 tests
  • Periventricular heterotopia with microcephaly, autosomal recessive1 test
  • Perlman syndrome3 tests
  • Permanent neonatal diabetes mellitus6 tests
  • Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome1 test
  • Peroxisome biogenesis disorder 10A (Zellweger)6 tests
  • Peroxisome biogenesis disorder 10B4 tests
  • Peroxisome biogenesis disorder 11A (Zellweger)5 tests
  • Peroxisome biogenesis disorder 11B3 tests
  • Peroxisome biogenesis disorder 12A (Zellweger)5 tests
  • Peroxisome biogenesis disorder 13A (Zellweger)6 tests
  • Peroxisome biogenesis disorder 14B4 tests
  • Peroxisome biogenesis disorder 1A (Zellweger)7 tests
  • Peroxisome biogenesis disorder 1B5 tests
  • Peroxisome biogenesis disorder 2A (Zellweger)6 tests
  • Peroxisome biogenesis disorder 2B4 tests
  • Peroxisome biogenesis disorder 3A (Zellweger)5 tests
  • Peroxisome biogenesis disorder 4A (Zellweger)6 tests
  • Peroxisome biogenesis disorder 4B4 tests
  • Peroxisome biogenesis disorder 5A (Zellweger)7 tests
  • Peroxisome biogenesis disorder 5B5 tests
  • Peroxisome biogenesis disorder 6A (Zellweger)6 tests
  • Peroxisome biogenesis disorder 6B4 tests
  • Peroxisome biogenesis disorder 7A (Zellweger)5 tests
  • Peroxisome biogenesis disorder 7B4 tests
  • Peroxisome biogenesis disorder 8A (Zellweger)5 tests
  • Peroxisome biogenesis disorder 8B3 tests
  • Peroxisome biogenesis disorder 9B6 tests
  • Peroxisome biogenesis disorder type 3B4 tests
  • Perrault syndrome 13 tests
  • Perrault syndrome 22 tests
  • Perrault syndrome 32 tests
  • Perrault syndrome 42 tests
  • Perrault syndrome 51 test
  • Persistent Mullerian duct syndrome2 tests
  • Peters plus syndrome1 test
  • Pettigrew syndrome3 tests
  • Peutz-Jeghers syndrome5 tests
  • Pfeiffer syndrome1 test
  • PGM1-congenital disorder of glycosylation1 test
  • Phelan-McDermid syndrome2 tests
  • Phenylketonuria4 tests
  • Pheochromocytoma4 tests
  • Phosphate transport defect3 tests
  • Phosphoenolpyruvate carboxykinase deficiency, cytosolic2 tests
  • Phosphoenolpyruvate carboxykinase deficiency, mitochondrial1 test
  • Phytanic acid storage disease7 tests
  • Pick disease1 test
  • Pierson syndrome2 tests
  • Pigmentary pallidal degeneration5 tests
  • Pigmentary retinal dystrophy7 tests
  • Pigmented nodular adrenocortical disease, primary, 11 test
  • Pigmented nodular adrenocortical disease, primary, 22 tests
  • Pigmented nodular adrenocortical disease, primary, 32 tests
  • Pili torti-deafness syndrome1 test
  • Pilomatrixoma2 tests
  • Pineal hyperplasia AND diabetes mellitus syndrome1 test
  • Pitt-Hopkins syndrome4 tests
  • Pitt-Hopkins-like syndrome 23 tests
  • Pituitary dependent hypercortisolism2 tests
  • Pituitary hormone deficiency, combined, 13 tests
  • Pituitary hormone deficiency, combined, 23 tests
  • Pituitary hormone deficiency, combined, 61 test
  • Plasminogen deficiency, type I1 test
  • Platelet-type bleeding disorder 111 test
  • Platelet-type bleeding disorder 162 tests
  • Platelet-type bleeding disorder 81 test
  • Platyspondylic dysplasia, Torrance type1 test
  • PLIN1-related familial partial lipodystrophy1 test
  • PMM2-congenital disorder of glycosylation3 tests
  • Poikiloderma with neutropenia2 tests
  • Polycystic kidney disease 24 tests
  • Polycystic kidney disease, adult type4 tests
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 14 tests
  • Polycystic liver disease 12 tests
  • Polydactyly, postaxial, type A11 test
  • Polyglandular autoimmune syndrome, type 11 test
  • Polymicrogyria with optic nerve hypoplasia2 tests
  • Polymicrogyria, bilateral perisylvian, autosomal recessive1 test
  • Polyposis syndrome, hereditary mixed, 24 tests
  • Pontocerebellar hypoplasia type 1A3 tests
  • Pontocerebellar hypoplasia type 1B1 test
  • Pontocerebellar hypoplasia type 2A2 tests
  • Pontocerebellar hypoplasia type 2B1 test
  • Pontocerebellar hypoplasia type 2C1 test
  • Pontocerebellar hypoplasia type 41 test
  • Pontocerebellar hypoplasia type 51 test
  • Pontocerebellar hypoplasia type 61 test
  • Porencephaly 23 tests
  • Porphobilinogen synthase deficiency3 tests
  • Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome2 tests
  • Posterior column ataxia-retinitis pigmentosa syndrome2 tests
  • Posterior polymorphous corneal dystrophy 11 test
  • Posterior polymorphous corneal dystrophy 23 tests
  • Posterior polymorphous corneal dystrophy 32 tests
  • Postmenopausal osteoporosis2 tests
  • Potassium-aggravated myotonia2 tests
  • PPARG-related familial partial lipodystrophy2 tests
  • Prader-Willi syndrome1 test
  • Predisposition to invasive fungal disease due to CARD9 deficiency1 test
  • Premature ovarian failure 2A1 test
  • Premature ovarian failure 2B1 test
  • Premature ovarian failure 31 test
  • Premature ovarian failure 51 test
  • Premature ovarian failure 61 test
  • Premature ovarian failure 71 test
  • Pretibial dystrophic epidermolysis bullosa1 test
  • Primary ciliary dyskinesia 111 test
  • Primary ciliary dyskinesia 122 tests
  • Primary ciliary dyskinesia 131 test
  • Primary ciliary dyskinesia 141 test
  • Primary ciliary dyskinesia 151 test
  • Primary ciliary dyskinesia 161 test
  • Primary ciliary dyskinesia 171 test
  • Primary ciliary dyskinesia 181 test
  • Primary ciliary dyskinesia 191 test
  • Primary ciliary dyskinesia 21 test
  • Primary ciliary dyskinesia 201 test
  • Primary ciliary dyskinesia 33 tests
  • Primary ciliary dyskinesia 51 test
  • Primary ciliary dyskinesia 61 test
  • Primary ciliary dyskinesia 72 tests
  • Primary ciliary dyskinesia 91 test
  • Primary erythromelalgia2 tests
  • Primary failure of tooth eruption1 test
  • Primary familial polycythemia due to EPO receptor mutation2 tests
  • Primary hyperoxaluria type 32 tests
  • Primary hyperoxaluria, type I4 tests
  • Primary hyperoxaluria, type II2 tests
  • Primary hypomagnesemia3 tests
  • Primary immunodeficiency syndrome due to p14 deficiency3 tests
  • Primary open angle glaucoma2 tests
  • Progeroid and marfanoid aspect-lipodystrophy syndrome2 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 12 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 21 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 33 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 43 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 51 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 11 test
  • Progressive familial heart block type IB3 tests
  • Progressive familial heart block, type 1A1 test
  • Progressive familial intrahepatic cholestasis type 12 tests
  • Progressive familial intrahepatic cholestasis type 21 test
  • Progressive familial intrahepatic cholestasis type 33 tests
  • Progressive myoclonic epilepsy type 33 tests
  • Progressive myositis ossificans2 tests
  • Progressive osseous heteroplasia1 test
  • Progressive pseudorheumatoid dysplasia3 tests
  • Progressive scapulohumeroperoneal distal myopathy1 test
  • Progressive sclerosing poliodystrophy3 tests
  • Progressive supranuclear ophthalmoplegia1 test
  • Prolactin-producing pituitary gland adenoma2 tests
  • Prolidase deficiency1 test
  • Proline dehydrogenase deficiency2 tests
  • Properdin deficiency, X-linked2 tests
  • Propionic acidemia3 tests
  • Prostate cancer, hereditary, 11 test
  • Prostate cancer, hereditary, 21 test
  • Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis1 test
  • Proteus syndrome1 test
  • Protoporphyria, erythropoietic, 13 tests
  • Prune belly syndrome2 tests
  • Pseudo von Willebrand disease3 tests
  • Pseudo-Hurler polydystrophy2 tests
  • Pseudo-TORCH syndrome 12 tests
  • Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome4 tests
  • Pseudoexfoliation glaucoma1 test
  • Pseudohypoaldosteronism type 2B3 tests
  • Pseudohypoaldosteronism type 2C2 tests
  • Pseudohypoaldosteronism type 2D4 tests
  • Pseudohypoaldosteronism type 2E1 test
  • Pseudohypoparathyroidism2 tests
  • Pseudohypoparathyroidism type 1B2 tests
  • Pseudohypoparathyroidism type 1C2 tests
  • Pseudopseudohypoparathyroidism1 test
  • Pseudoxanthoma elasticum3 tests
  • Pseudoxanthoma elasticum, forme fruste2 tests
  • Psoriatic arthritis, susceptibility to1 test
  • Pterin-4 alpha-carbinolamine dehydratase 1 deficiency2 tests
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 12 tests
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 24 tests
  • Pulmonary hypertension, primary, 13 tests
  • Pulmonary hypertension, primary, 22 tests
  • Pulmonary hypertension, primary, 32 tests
  • Pulmonary venoocclusive disease 1, autosomal dominant1 test
  • Purine-nucleoside phosphorylase deficiency2 tests
  • PYCR1-related de Barsy syndrome1 test
  • Pyknodysostosis2 tests
  • Pyogenic arthritis-pyoderma gangrenosum-acne syndrome3 tests
  • Pyridoxal phosphate-responsive seizures1 test
  • Pyridoxine-dependent epilepsy3 tests
  • Pyruvate carboxylase deficiency2 tests
  • Pyruvate dehydrogenase E1-alpha deficiency4 tests
  • Pyruvate dehydrogenase E1-beta deficiency2 tests
  • Pyruvate dehydrogenase E2 deficiency2 tests
  • Pyruvate dehydrogenase E3 deficiency4 tests
  • Pyruvate dehydrogenase E3-binding protein deficiency2 tests
  • Pyruvate dehydrogenase phosphatase deficiency2 tests
  • Pyruvate kinase deficiency of red cells2 tests
  • RAB23-related Carpenter syndrome2 tests
  • Radial aplasia-thrombocytopenia syndrome2 tests
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 12 tests
  • Rafiq syndrome2 tests
  • Rapp-Hodgkin ectodermal dysplasia syndrome1 test
  • Recessive dystrophic epidermolysis bullosa1 test
  • Reis-Bucklers' corneal dystrophy2 tests
  • Renal carnitine transport defect4 tests
  • Renal cell carcinoma, papillary, 12 tests
  • Renal coloboma syndrome1 test
  • Renal cysts and diabetes syndrome3 tests
  • Renal hypodysplasia/aplasia 12 tests
  • Renal hypomagnesemia 23 tests
  • Renal hypomagnesemia 41 test
  • Renal hypomagnesemia 5 with ocular involvement3 tests
  • Renal hypomagnesemia 61 test
  • Renal tubular acidosis with progressive nerve deafness4 tests
  • Renal tubular acidosis, distal, 4, with hemolytic anemia4 tests
  • Renal tubular dysgenesis1 test
  • Renpenning syndrome4 tests
  • Reticular dysgenesis3 tests
  • Reticulate acropigmentation of Kitamura1 test
  • Retinal arterial tortuosity1 test
  • Retinal cone dystrophy 3A2 tests
  • Retinal cone dystrophy 41 test
  • Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations1 test
  • Retinitis pigmentosa 14 tests
  • Retinitis pigmentosa 103 tests
  • Retinitis pigmentosa 113 tests
  • Retinitis pigmentosa 123 tests
  • Retinitis pigmentosa 132 tests
  • Retinitis pigmentosa 142 tests
  • Retinitis pigmentosa 172 tests
  • Retinitis pigmentosa 183 tests
  • Retinitis pigmentosa 193 tests
  • Retinitis pigmentosa 24 tests
  • Retinitis pigmentosa 204 tests
  • Retinitis pigmentosa 253 tests
  • Retinitis pigmentosa 263 tests
  • Retinitis pigmentosa 273 tests
  • Retinitis pigmentosa 282 tests
  • Retinitis pigmentosa 34 tests
  • Retinitis pigmentosa 303 tests
  • Retinitis pigmentosa 312 tests
  • Retinitis pigmentosa 332 tests
  • Retinitis pigmentosa 352 tests
  • Retinitis pigmentosa 362 tests
  • Retinitis pigmentosa 374 tests
  • Retinitis pigmentosa 382 tests
  • Retinitis pigmentosa 392 tests
  • Retinitis pigmentosa 44 tests
  • Retinitis pigmentosa 403 tests
  • Retinitis pigmentosa 412 tests
  • Retinitis pigmentosa 422 tests
  • Retinitis pigmentosa 433 tests
  • Retinitis pigmentosa 443 tests
  • Retinitis pigmentosa 452 tests
  • Retinitis pigmentosa 462 tests
  • Retinitis pigmentosa 473 tests
  • Retinitis pigmentosa 482 tests
  • Retinitis pigmentosa 492 tests
  • Retinitis pigmentosa 503 tests
  • Retinitis pigmentosa 512 tests
  • Retinitis pigmentosa 542 tests
  • Retinitis pigmentosa 562 tests
  • Retinitis pigmentosa 572 tests
  • Retinitis pigmentosa 582 tests
  • Retinitis pigmentosa 593 tests
  • Retinitis pigmentosa 602 tests
  • Retinitis pigmentosa 622 tests
  • Retinitis pigmentosa 662 tests
  • Retinitis pigmentosa 74 tests
  • Retinitis pigmentosa 761 test
  • Retinitis pigmentosa 92 tests
  • Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness1 test
  • Retinoblastoma4 tests
  • Rett syndrome3 tests
  • Rett syndrome, congenital variant5 tests
  • RFT1-congenital disorder of glycosylation1 test
  • Rhabdoid tumor predisposition syndrome 13 tests
  • Rhabdoid tumor predisposition syndrome 21 test
  • Rhabdomyosarcoma, embryonal, 21 test
  • Rheumatoid arthritis1 test
  • Rhizomelic chondrodysplasia punctata type 16 tests
  • Rhizomelic chondrodysplasia punctata type 24 tests
  • Rhizomelic chondrodysplasia punctata type 34 tests
  • Rhizomelic chondrodysplasia punctata type 51 test
  • Richieri Costa-Pereira syndrome1 test
  • Rienhoff syndrome5 tests
  • RIN2 syndrome1 test
  • Rippling muscle disease 24 tests
  • Ritscher-Schinzel syndrome 21 test
  • Roberts-SC phocomelia syndrome2 tests
  • Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked3 tests
  • Rothmund-Thomson syndrome5 tests
  • Rotor syndrome2 tests
  • Roussy-Lévy syndrome1 test
  • Rubinstein-Taybi syndrome due to CREBBP mutations4 tests
  • Rubinstein-Taybi syndrome due to EP300 haploinsufficiency3 tests
  • Sacral defect with anterior meningocele1 test
  • Saethre-Chotzen syndrome2 tests
  • Salla disease2 tests
  • Sandhoff disease4 tests
  • Sarcoidosis, susceptibility to, 21 test
  • Sarcotubular myopathy3 tests
  • Scapuloperoneal spinal muscular atrophy1 test
  • SchC6pf-Schulz-Passarge syndrome1 test
  • Schimke immuno-osseous dysplasia1 test
  • Schinzel-Giedion syndrome1 test
  • Schizencephaly1 test
  • Schizophrenia1 test
  • Schizophrenia 151 test
  • Schneckenbecken dysplasia1 test
  • Schnyder crystalline corneal dystrophy1 test
  • Schwannomatosis 13 tests
  • Schwannomatosis 23 tests
  • Schwartz-Jampel syndrome3 tests
  • Sclerosteosis 11 test
  • Sclerosteosis 21 test
  • SCOTT SYNDROME1 test
  • Seckel syndrome 13 tests
  • Seckel syndrome 22 tests
  • Seckel syndrome 42 tests
  • Seckel syndrome 52 tests
  • Seckel syndrome 62 tests
  • Seizures, benign familial infantile, 22 tests
  • Seizures, benign familial infantile, 33 tests
  • Seizures, benign familial infantile, 51 test
  • Seizures, benign familial neonatal, 13 tests
  • Seizures, benign familial neonatal, 23 tests
  • Selective pituitary resistance to thyroid hormone2 tests
  • Senior-Loken syndrome 11 test
  • Senior-Loken syndrome 41 test
  • Senior-Loken syndrome 53 tests
  • Senior-Loken syndrome 62 tests
  • Senior-Loken syndrome 72 tests
  • Senior-Loken syndrome 81 test
  • Senior-Loken syndrome 91 test
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis2 tests
  • Septo-optic dysplasia sequence3 tests
  • SERKAL syndrome1 test
  • Severe achondroplasia-developmental delay-acanthosis nigricans syndrome2 tests
  • Severe combined immunodeficiency due to DCLRE1C deficiency2 tests
  • Severe combined immunodeficiency due to IKK2 deficiency1 test
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency2 tests
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive3 tests
  • Severe early-childhood-onset retinal dystrophy4 tests
  • Severe intellectual disability-progressive spastic diplegia syndrome2 tests
  • Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome2 tests
  • Severe myoclonic epilepsy in infancy7 tests
  • Severe neurodegenerative syndrome with lipodystrophy1 test
  • Severe X-linked myotubular myopathy5 tests
  • Short QT syndrome type 14 tests
  • Short QT syndrome type 24 tests
  • Short QT syndrome type 35 tests
  • Short stature-pituitary and cerebellar defects-small sella turcica syndrome3 tests
  • SHORT syndrome1 test
  • Short-rib thoracic dysplasia 7 with or without polydactyly1 test
  • Shprintzen-Goldberg syndrome1 test
  • Shwachman-Diamond syndrome 16 tests
  • Sialic acid storage disease, severe infantile type2 tests
  • Sialidosis type 23 tests
  • Sialuria1 test
  • Sick sinus syndrome 11 test
  • Sick sinus syndrome 2, autosomal dominant4 tests
  • Sick sinus syndrome 3, susceptibility to1 test
  • Sideroblastic anemia 21 test
  • Sideroblastic anemia 31 test
  • Simpson-Golabi-Behmel syndrome type 14 tests
  • Sinoatrial node dysfunction and deafness2 tests
  • Sitosterolemia3 tests
  • Sjögren-Larsson syndrome1 test
  • Skin/hair/eye pigmentation, variation in, 42 tests
  • Skin/hair/eye pigmentation, variation in, 81 test
  • SLC35A1-congenital disorder of glycosylation1 test
  • Small cell lung carcinoma3 tests
  • Smith-Lemli-Opitz syndrome2 tests
  • Smith-Magenis syndrome3 tests
  • Smoking as a quantitative trait locus 31 test
  • Solitary median maxillary central incisor syndrome1 test
  • Somatotroph adenoma3 tests
  • Sorsby fundus dystrophy2 tests
  • Sotos syndrome 16 tests
  • Spastic ataxia 51 test
  • Spastic paraplegia 52, autosomal recessive2 tests
  • Spermatogenic failure 101 test
  • Spermatogenic failure 111 test
  • Spermatogenic failure 41 test
  • Spermatogenic failure 71 test
  • Spermatogenic failure 81 test
  • Spermatogenic failure 92 tests
  • Spermatogenic failure, Y-linked, 21 test
  • Spheroid body myopathy1 test
  • Sphingolipid activator protein 1 deficiency1 test
  • Spinal muscular atrophy, type II3 tests
  • Spinal muscular atrophy, type IV3 tests
  • Spinal muscular atrophy-progressive myoclonic epilepsy syndrome2 tests
  • Spinocerebellar ataxia 71 test
  • Spinocerebellar ataxia type 11 test
  • Spinocerebellar ataxia type 101 test
  • Spinocerebellar ataxia type 113 tests
  • Spinocerebellar ataxia type 121 test
  • Spinocerebellar ataxia type 132 tests
  • Spinocerebellar ataxia type 143 tests
  • Spinocerebellar ataxia type 15/162 tests
  • Spinocerebellar ataxia type 171 test
  • Spinocerebellar ataxia type 181 test
  • Spinocerebellar ataxia type 19/221 test
  • Spinocerebellar ataxia type 21 test
  • Spinocerebellar ataxia type 231 test
  • Spinocerebellar ataxia type 272 tests
  • Spinocerebellar ataxia type 281 test
  • Spinocerebellar ataxia type 291 test
  • Spinocerebellar ataxia type 351 test
  • Spinocerebellar ataxia type 362 tests
  • Spinocerebellar ataxia type 421 test
  • Spinocerebellar ataxia type 52 tests
  • Spinocerebellar ataxia type 61 test
  • Spinocerebellar ataxia type 81 test
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 24 tests
  • Split hand-foot malformation 41 test
  • Split hand-foot malformation 61 test
  • Spondylo-megaepiphyseal-metaphyseal dysplasia1 test
  • Spondylocarpotarsal synostosis syndrome2 tests
  • Spondylocostal dysostosis 1, autosomal recessive2 tests
  • Spondylocostal dysostosis 2, autosomal recessive2 tests
  • Spondylocostal dysostosis 3, autosomal recessive2 tests
  • Spondylocostal dysostosis 4, autosomal recessive2 tests
  • Spondylocostal dysostosis 52 tests
  • Spondyloenchondrodysplasia with immune dysregulation1 test
  • Spondyloepimetaphyseal dysplasia, matrilin-3 type1 test
  • Spondyloepimetaphyseal dysplasia, Missouri type2 tests
  • Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome1 test
  • Spondyloepiphyseal dysplasia tarda1 test
  • Spondyloepiphyseal dysplasia with congenital joint dislocations2 tests
  • Spondyloepiphyseal dysplasia, Stanescu type1 test
  • Spondylometaphyseal dysplasia, Kozlowski type3 tests
  • Spondyloperipheral dysplasia1 test
  • Spongy degeneration of central nervous system4 tests
  • SRD5A3-congenital disorder of glycosylation1 test
  • Stargardt disease 33 tests
  • Stargardt disease 43 tests
  • STAT3-related early-onset multisystem autoimmune disease1 test
  • Steinert myotonic dystrophy syndrome2 tests
  • Sterile multifocal osteomyelitis with periostitis and pustulosis2 tests
  • Sterol carrier protein 2 deficiency2 tests
  • Stickler syndrome type 14 tests
  • Stickler syndrome type 24 tests
  • Stickler syndrome, type 43 tests
  • Stickler syndrome, type 53 tests
  • Stickler syndrome, type I, nonsyndromic ocular2 tests
  • Stiff skin syndrome1 test
  • Sturge-Weber syndrome1 test
  • Stuve-Wiedemann syndrome2 tests
  • Succinate-semialdehyde dehydrogenase deficiency2 tests
  • Succinyl-CoA acetoacetate transferase deficiency1 test
  • Sucrase-isomaltase deficiency1 test
  • SUDDEN INFANT DEATH SYNDROME1 test
  • Sulfite oxidase deficiency1 test
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 test
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C2 tests
  • Surfactant metabolism dysfunction, pulmonary, 23 tests
  • Surfactant metabolism dysfunction, pulmonary, 43 tests
  • Surfactant metabolism dysfunction, pulmonary, 52 tests
  • Susceptibility to bulimia nervosa1 test
  • Susceptibility to HIV infection1 test
  • Symmetrical dyschromatosis of extremities1 test
  • Symphalangism-brachydactyly syndrome1 test
  • Syndactyly type 41 test
  • Syndromic microphthalmia type 53 tests
  • Syndromic X-linked intellectual disability 142 tests
  • Syndromic X-linked intellectual disability Claes-Jensen type4 tests
  • Syndromic X-linked intellectual disability Hedera type1 test
  • Syndromic X-linked intellectual disability Lubs type3 tests
  • Syndromic X-linked intellectual disability Najm type3 tests
  • Syndromic X-linked intellectual disability Snyder type1 test
  • Synpolydactyly type 11 test
  • Synpolydactyly type 21 test
  • Systemic lupus erythematosus1 test
  • Systemic lupus erythematosus, susceptibility to, 21 test
  • Systemic-onset juvenile idiopathic arthritis1 test
  • T-B+ severe combined immunodeficiency due to JAK3 deficiency2 tests
  • T-cell immunodeficiency, congenital alopecia, and nail dystrophy1 test
  • Tall stature-intellectual disability-facial dysmorphism syndrome1 test
  • Tangier disease1 test
  • Tay-Sachs disease5 tests
  • Tay-Sachs disease, variant AB3 tests
  • TCF12-related craniosynostosis1 test
  • Telangiectasia, hereditary hemorrhagic, type 15 tests
  • Telangiectasia, hereditary hemorrhagic, type 24 tests
  • Telangiectasia, hereditary hemorrhagic, type 51 test
  • Temtamy preaxial brachydactyly syndrome1 test
  • Tetraamelia syndrome 11 test
  • Thanatophoric dysplasia type 12 tests
  • Thanatophoric dysplasia, type 22 tests
  • Thiel-Behnke corneal dystrophy1 test
  • Thiopurine methyltransferase deficiency1 test
  • Thrombocythemia 13 tests
  • Thrombocythemia 32 tests
  • Thrombocytopenia 12 tests
  • Thrombocytopenia 21 test
  • Thrombocytopenia 41 test
  • Thrombocytopenia 61 test
  • Thrombocytopenia, X-linked, with or without dyserythropoietic anemia3 tests
  • Thrombomodulin-related bleeding disorder2 tests
  • Thrombophilia due to activated protein C resistance1 test
  • Thrombophilia due to protein C deficiency, autosomal dominant1 test
  • Thrombophilia due to protein S deficiency, autosomal dominant1 test
  • Thrombophilia due to protein S deficiency, autosomal recessive1 test
  • Thrombophilia, X-linked, due to factor 9 defect1 test
  • Thyroglobulin synthesis defect3 tests
  • Thyroid cancer, nonmedullary, 21 test
  • Thyroid dyshormonogenesis 62 tests
  • Thyroid hormone metabolism, abnormal 13 tests
  • Thyroid hormone resistance, generalized, autosomal dominant4 tests
  • Thyroid hormone resistance, generalized, autosomal recessive3 tests
  • Thyrotoxic periodic paralysis, susceptibility to, 11 test
  • Thyrotoxic periodic paralysis, susceptibility to, 21 test
  • Tietz syndrome2 tests
  • Timothy syndrome4 tests
  • TNF receptor-associated periodic fever syndrome (TRAPS)4 tests
  • Tobacco addiction, susceptibility to1 test
  • Tooth agenesis, selective, 11 test
  • Tooth agenesis, selective, 41 test
  • Torsion dystonia 41 test
  • Torsion dystonia 62 tests
  • Tourette syndrome1 test
  • Townes-Brocks syndrome 12 tests
  • Transcobalamin II deficiency1 test
  • Transposition of the great arteries, dextro-looped1 test
  • Treacher Collins syndrome 14 tests
  • Treacher Collins syndrome 23 tests
  • Treacher Collins syndrome 33 tests
  • Tremor, hereditary essential, 11 test
  • Tremor, hereditary essential, 41 test
  • Tremor, hereditary essential, 51 test
  • Trichohepatoenteric syndrome 12 tests
  • Trichohepatoenteric syndrome 22 tests
  • Trichorhinophalangeal dysplasia type I2 tests
  • Trichorhinophalangeal syndrome, type III2 tests
  • Trichothiodystrophy 1, photosensitive1 test
  • Trichothiodystrophy 2, photosensitive3 tests
  • Trichothiodystrophy 3, photosensitive2 tests
  • Trichothiodystrophy 4, nonphotosensitive2 tests
  • Trichothiodystrophy 5, nonphotosensitive1 test
  • Triglyceride storage disease with ichthyosis2 tests
  • Trigonocephaly 11 test
  • Trimethylaminuria1 test
  • Triosephosphate isomerase deficiency1 test
  • Troyer syndrome4 tests
  • Tuberous sclerosis 15 tests
  • Tuberous sclerosis 25 tests
  • Tubulointerstitial kidney disease, autosomal dominant, 21 test
  • Tumoral calcinosis, hyperphosphatemic, familial, 12 tests
  • Turcot syndrome3 tests
  • TWIST1-related craniosynostosis1 test
  • Type 1 diabetes mellitus 21 test
  • Type 1 diabetes mellitus 202 tests
  • Type 2 diabetes mellitus5 tests
  • Tyrosinase-negative oculocutaneous albinism3 tests
  • Tyrosinase-positive oculocutaneous albinism3 tests
  • Tyrosinemia type I3 tests
  • Tyrosinemia type II2 tests
  • Tyrosinemia type III2 tests
  • UDPglucose-4-epimerase deficiency1 test
  • Ullrich congenital muscular dystrophy 16 tests
  • Ullrich congenital muscular dystrophy 21 test
  • Ulnar-mammary syndrome1 test
  • Unverricht-Lundborg syndrome1 test
  • Upshaw-Schulman syndrome4 tests
  • Urofacial syndrome 21 test
  • Urofacial syndrome type 11 test
  • Usher syndrome type 12 tests
  • Usher syndrome type 1C1 test
  • Usher syndrome type 1D2 tests
  • Usher syndrome type 1F1 test
  • Usher syndrome type 1G1 test
  • Usher syndrome type 2A4 tests
  • Usher syndrome type 2C1 test
  • Usher syndrome type 32 tests
  • Usher syndrome type 3B2 tests
  • Uterine leiomyoma1 test
  • Van den Ende-Gupta syndrome2 tests
  • Van der Woude syndrome 11 test
  • Vanishing white matter disease7 tests
  • Variegate porphyria3 tests
  • Velocardiofacial syndrome1 test
  • Ventricular fibrillation, paroxysmal familial, 21 test
  • Ventricular fibrillation, paroxysmal familial, type 12 tests
  • Ventricular septal defect 31 test
  • Very long chain acyl-CoA dehydrogenase deficiency4 tests
  • Vici syndrome1 test
  • Vitamin b12 plasma level quantitative trait locus 11 test
  • Vitamin D hydroxylation-deficient rickets, type 1B1 test
  • Vitamin D-dependent rickets type II with alopecia2 tests
  • Vitamin D-dependent rickets, type 13 tests
  • Vitelliform macular dystrophy 22 tests
  • Von Hippel-Lindau syndrome3 tests
  • von Willebrand disease type 13 tests
  • von Willebrand disease type 23 tests
  • von Willebrand disease type 33 tests
  • Waardenburg syndrome type 13 tests
  • Waardenburg syndrome type 2A3 tests
  • Waardenburg syndrome type 2D1 test
  • Waardenburg syndrome type 2E1 test
  • Waardenburg syndrome type 31 test
  • Waardenburg syndrome type 4A2 tests
  • Waardenburg syndrome type 4B2 tests
  • Waardenburg syndrome type 4C2 tests
  • Wagner syndrome3 tests
  • Warburg micro syndrome 13 tests
  • Warburg micro syndrome 21 test
  • Warburg micro syndrome 31 test
  • Warfarin response1 test
  • Warts, hypogammaglobulinemia, infections, and myelokathexis3 tests
  • Weaver syndrome3 tests
  • Weill-Marchesani syndrome 13 tests
  • Werdnig-Hoffmann disease4 tests
  • Werner syndrome4 tests
  • Wieacker-Wolff syndrome1 test
  • Wiedemann-Steiner syndrome1 test
  • Wilms tumor 13 tests
  • Wilson disease3 tests
  • Wiskott-Aldrich syndrome2 tests
  • Wiskott-Aldrich syndrome 22 tests
  • Wolcott-Rallison dysplasia2 tests
  • Wolff-Parkinson-White pattern3 tests
  • Wolfram syndrome 13 tests
  • Wolfram syndrome 22 tests
  • Woodhouse-Sakati syndrome3 tests
  • Wrinkly skin syndrome1 test
  • X-linked agammaglobulinemia3 tests
  • X-linked agammaglobulinemia with growth hormone deficiency2 tests
  • X-linked Alport syndrome4 tests
  • X-linked chondrodysplasia punctata 13 tests
  • X-linked complicated corpus callosum dysgenesis3 tests
  • X-linked cone-rod dystrophy 13 tests
  • X-linked cone-rod dystrophy 32 tests
  • X-linked distal spinal muscular atrophy type 33 tests
  • X-linked dyserythropoetic anemia with abnormal platelets and neutropenia2 tests
  • X-linked dystonia-parkinsonism3 tests
  • X-linked Emery-Dreifuss muscular dystrophy5 tests
  • X-linked hydrocephalus syndrome6 tests
  • X-linked ichthyosis with steryl-sulfatase deficiency3 tests
  • X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia2 tests
  • X-linked intellectual disability with marfanoid habitus3 tests
  • X-linked intellectual disability, Stocco dos Santos type3 tests
  • X-linked intellectual disability-cerebellar hypoplasia syndrome6 tests
  • X-linked intellectual disability-psychosis-macroorchidism syndrome2 tests
  • X-linked lissencephaly with abnormal genitalia2 tests
  • X-linked lymphoproliferative disease due to SH2D1A deficiency6 tests
  • X-linked lymphoproliferative disease due to XIAP deficiency4 tests
  • X-linked mixed hearing loss with perilymphatic gusher2 tests
  • X-linked myopathy with postural muscle atrophy3 tests
  • X-linked Opitz G/BBB syndrome3 tests
  • X-linked progressive cerebellar ataxia1 test
  • X-linked scapuloperoneal muscular dystrophy1 test
  • X-linked severe combined immunodeficiency2 tests
  • X-linked severe congenital neutropenia4 tests
  • X-linked sideroblastic anemia 12 tests
  • X-linked sideroblastic anemia with ataxia1 test
  • Xanthinuria type II1 test
  • Xeroderma pigmentosum group A3 tests
  • Xeroderma pigmentosum group B2 tests
  • Xeroderma pigmentosum variant type1 test
  • Xeroderma pigmentosum, group C3 tests
  • Xeroderma pigmentosum, group D3 tests
  • Xeroderma pigmentosum, group E2 tests
  • Xeroderma pigmentosum, group F2 tests
  • Xeroderma pigmentosum, group G2 tests
  • Young adult-onset distal hereditary motor neuropathy2 tests
  • Zinc deficiency, transient neonatal1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Balanced Chromosome Rearrangement Studies
  • Custom Deletion/Duplication Testing
  • Prenatal testing
  • Custom Sequence Analysis
  • Custom microarray analysis
  • Carrier testing
  • Data Storage and Backup
  • Genetic counseling
  • Identity Testing
  • Marker Chromosome Identification
  • Mutation Confirmation
  • Result interpretation
  • Uniparental Disomy (UPD) Testing
  • Whole Exome Sequencing
  • Whole Genome Sequencing

List of certifications/licenses

Certifications

  • ISO 14001:2004, Number: ES-2001/0146, Expiration date: 2018-09-14
  • ISO 9001:2008, Number: ES-1087/1998, Expiration date: 2018-09-14
  • ISO15189, Number: 1065/LE2112, Expiration date: 2018-12-31

Participation in external programs

Standardization programs

  • Other

Data exchange Programs

  • Other

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.