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GTR Home > Laboratories > Genologica Medica

Genologica Medica

GTR Lab ID: 505214, Last updated:2021-11-17
Annual Review past due read more

Personnel

  • Director: Jose Porta, PhD, Lab Director
    Phone: 0034-951706532
    Email: jmporta@genologica.com
    Contact note: Paseo de la Farol 16. 29016. Malaga. Spain
  • Javier Porta, PhD, Scientific Director
    Phone: 0034951706532
    Email: jporta@genologica.com
    Contact note: Paseo de la Farol 16. 29016. Malaga. Spain

Conditions and tests

  • 2-hydroxyglutaric aciduria4 tests
  • 3 beta-Hydroxysteroid dehydrogenase deficiency2 tests
  • 3-hydroxy-3-methylglutaryl-CoA synthase deficiency3 tests
  • 3-methylcrotonyl-CoA carboxylase 1 deficiency2 tests
  • 3-methylcrotonyl-CoA carboxylase 2 deficiency2 tests
  • 3-methylglutaconic aciduria type 11 test
  • 3-Methylglutaconic aciduria type 21 test
  • 3-Methylglutaconic aciduria type 38 tests
  • 3-methylglutaconic aciduria type 52 tests
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome8 tests
  • 3-methylglutaconic aciduria, type VIIB2 tests
  • 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1 test
  • 3M syndrome 12 tests
  • 3M syndrome 22 tests
  • 3M syndrome 31 test
  • 3MC syndrome 13 tests
  • 3MC syndrome 21 test
  • 46,XX sex reversal 12 tests
  • 46,XX sex reversal 43 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 33 tests
  • 46,XY sex reversal 61 test
  • 46,XY sex reversal 71 test
  • 46,XY sex reversal 92 tests
  • 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency3 tests
  • Aarskog syndrome1 test
  • ABCD syndrome1 test
  • Abdominal obesity-metabolic syndrome 31 test
  • Abetalipoproteinaemia4 tests
  • Ablepharon macrostomia syndrome1 test
  • Abortive cerebellar ataxia10 tests
  • ABri amyloidosis2 tests
  • Abruzzo-Erickson syndrome1 test
  • Absence seizure2 tests
  • Achondrogenesis type II12 tests
  • Achondrogenesis, type IA3 tests
  • Achondrogenesis, type IB2 tests
  • Achondroplasia8 tests
  • Achromatopsia 24 tests
  • Achromatopsia 35 tests
  • Achromatopsia 43 tests
  • Achromatopsia 72 tests
  • Acne inversa, familial, 33 tests
  • Acquired hemoglobin H disease3 tests
  • Acral peeling skin syndrome2 tests
  • Acrocallosal syndrome8 tests
  • Acrocapitofemoral dysplasia4 tests
  • Acrocephalosyndactyly type I3 tests
  • Acrodysostosis 1 with or without hormone resistance5 tests
  • Acrodysostosis 2 with or without hormone resistance1 test
  • Acroerythrokeratoderma1 test
  • Acroleukopathy, symmetric3 tests
  • Acromesomelic dysplasia 1, Maroteaux type2 tests
  • Acromesomelic dysplasia 2B6 tests
  • Acromesomelic dysplasia 2C, Hunter-Thompson type6 tests
  • Acromesomelic dysplasia 34 tests
  • Acromicric dysplasia7 tests
  • Acroosteolysis-keloid-like lesions-premature aging syndrome2 tests
  • ACTH-independent macronodular adrenal hyperplasia 15 tests
  • ACTH-independent macronodular adrenal hyperplasia 21 test
  • Actin accumulation myopathy2 tests
  • Action myoclonus-renal failure syndrome3 tests
  • Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins2 tests
  • Acute intermittent porphyria1 test
  • Acute lymphoid leukemia6 tests
  • Acute myeloid leukemia22 tests
  • Acyl-CoA dehydrogenase 9 deficiency3 tests
  • Acyl-CoA oxidase deficiency1 test
  • Adams-Oliver syndrome 12 tests
  • Adams-Oliver syndrome 22 tests
  • Adams-Oliver syndrome 32 tests
  • Adams-Oliver syndrome 42 tests
  • Adams-Oliver syndrome 54 tests
  • Adams-Oliver syndrome 62 tests
  • ADan amyloidosis2 tests
  • Adenine phosphoribosyltransferase deficiency1 test
  • Adenosine kinase deficiency1 test
  • Adenylosuccinate lyase deficiency4 tests
  • Adiponectin deficiency1 test
  • ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder1 test
  • Adrenocortical carcinoma, hereditary14 tests
  • Adrenoleukodystrophy5 tests
  • Adult hypophosphatasia8 tests
  • Adult polyglucosan body disease8 tests
  • ADULT syndrome4 tests
  • Adult-onset autosomal dominant demyelinating leukodystrophy4 tests
  • Adult-onset proximal spinal muscular atrophy, autosomal dominant3 tests
  • Age related macular degeneration 16 tests
  • Age related macular degeneration 111 test
  • Age related macular degeneration 132 tests
  • Age related macular degeneration 142 tests
  • Age related macular degeneration 151 test
  • Age related macular degeneration 26 tests
  • Age related macular degeneration 43 tests
  • Age related macular degeneration 53 tests
  • Age related macular degeneration 63 tests
  • Age related macular degeneration 73 tests
  • Age related macular degeneration 92 tests
  • Aicardi-Goutieres syndrome 15 tests
  • Aicardi-Goutieres syndrome 24 tests
  • Aicardi-Goutieres syndrome 33 tests
  • Aicardi-Goutieres syndrome 44 tests
  • Aicardi-Goutieres syndrome 54 tests
  • Aicardi-Goutieres syndrome 64 tests
  • Aicardi-Goutieres syndrome 71 test
  • Alacrima, achalasia, and intellectual disability syndrome1 test
  • Alagille syndrome due to a JAG1 point mutation4 tests
  • Alagille syndrome due to a NOTCH2 point mutation4 tests
  • ALDH18A1-related de Barsy syndrome6 tests
  • Alexander disease5 tests
  • ALG1-congenital disorder of glycosylation1 test
  • ALG11-congenital disorder of glycosylation1 test
  • ALG12-congenital disorder of glycosylation1 test
  • ALG2-congenital disorder of glycosylation1 test
  • ALG3-congenital disorder of glycosylation1 test
  • ALG6-congenital disorder of glycosylation 1C1 test
  • ALG8 congenital disorder of glycosylation1 test
  • ALG9 congenital disorder of glycosylation1 test
  • Allan-Herndon-Dudley syndrome3 tests
  • Alopecia universalis congenita1 test
  • Alpha thalassemia-X-linked intellectual disability syndrome3 tests
  • Alpha-1-antitrypsin deficiency4 tests
  • Alpha-2-macroglobulin deficiency2 tests
  • Alpha-methylacyl-CoA racemase deficiency3 tests
  • Alpha-N-acetylgalactosaminidase deficiency type 11 test
  • Alpha-N-acetylgalactosaminidase deficiency type 21 test
  • Alstrom syndrome6 tests
  • Alternating hemiplegia of childhood 11 test
  • Alternating hemiplegia of childhood 26 tests
  • Alveolar capillary dysplasia with pulmonary venous misalignment4 tests
  • Alveolar rhabdomyosarcoma1 test
  • Alzheimer disease6 tests
  • Alzheimer disease 26 tests
  • Alzheimer disease 33 tests
  • Alzheimer disease 43 tests
  • Alzheimer disease 91 test
  • Amelocerebrohypohidrotic syndrome2 tests
  • Amelogenesis imperfecta - hypoplastic autosomal dominant - local1 test
  • Amelogenesis imperfecta hypomaturation type 2A21 test
  • Amelogenesis imperfecta hypomaturation type 2A31 test
  • Amelogenesis imperfecta hypomaturation type 2A51 test
  • Amelogenesis imperfecta type 1A3 tests
  • Amelogenesis imperfecta type 1C1 test
  • Amelogenesis imperfecta type 1E1 test
  • Amelogenesis imperfecta type 1G2 tests
  • Amelogenesis imperfecta type 1H1 test
  • Amelogenesis imperfecta type 2A11 test
  • Amelogenesis imperfecta, hypocalcification type1 test
  • Amelogenesis imperfecta, hypomaturation type, IIa61 test
  • Aminoacylase 1 deficiency1 test
  • Aminoglycoside-induced deafness2 tests
  • Amyloidosis, primary localized cutaneous, 11 test
  • Amyloidosis, primary localized cutaneous, 21 test
  • Amyotrophic lateral sclerosis type 13 tests
  • Amyotrophic lateral sclerosis type 102 tests
  • Amyotrophic lateral sclerosis type 112 tests
  • Amyotrophic lateral sclerosis type 122 tests
  • Amyotrophic lateral sclerosis type 152 tests
  • Amyotrophic lateral sclerosis type 161 test
  • Amyotrophic lateral sclerosis type 2, juvenile2 tests
  • Amyotrophic lateral sclerosis type 201 test
  • Amyotrophic lateral sclerosis type 222 tests
  • Amyotrophic lateral sclerosis type 45 tests
  • Amyotrophic lateral sclerosis type 52 tests
  • Amyotrophic lateral sclerosis type 62 tests
  • Amyotrophic lateral sclerosis type 83 tests
  • Amyotrophic lateral sclerosis type 91 test
  • Anauxetic dysplasia 14 tests
  • Andersen Tawil syndrome6 tests
  • Androgen resistance syndrome2 tests
  • Anemia, nonspherocytic hemolytic, due to G6PD deficiency1 test
  • Aneurysm-osteoarthritis syndrome4 tests
  • Angelman syndrome6 tests
  • Aniridia 16 tests
  • Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome4 tests
  • Annular epidermolytic ichthyosis4 tests
  • Anophthalmia/microphthalmia-esophageal atresia syndrome3 tests
  • Anterior segment dysgenesis 11 test
  • Anterior segment dysgenesis 31 test
  • Anterior segment dysgenesis 43 tests
  • Anterior segment dysgenesis 61 test
  • Anterior segment dysgenesis 71 test
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis5 tests
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis3 tests
  • Aortic aneurysm, familial thoracic 11, susceptibility to3 tests
  • Aortic aneurysm, familial thoracic 42 tests
  • Aortic aneurysm, familial thoracic 63 tests
  • Aortic aneurysm, familial thoracic 71 test
  • Aortic aneurysm, familial thoracic 91 test
  • Aortic valve disease 14 tests
  • Aortic valve disease 22 tests
  • Aplastic anemia11 tests
  • Apolipoprotein c-III deficiency2 tests
  • Apparent mineralocorticoid excess1 test
  • Arginase deficiency5 tests
  • Arginine:glycine amidinotransferase deficiency1 test
  • Argininosuccinate lyase deficiency1 test
  • Aromatase deficiency2 tests
  • Aromatase excess syndrome2 tests
  • Arrhinia with choanal atresia and microphthalmia syndrome2 tests
  • Arrhythmogenic cardiomyopathy with wooly hair and keratoderma6 tests
  • Arrhythmogenic right ventricular dysplasia 14 tests
  • Arrhythmogenic right ventricular dysplasia 103 tests
  • Arrhythmogenic right ventricular dysplasia 112 tests
  • Arrhythmogenic right ventricular dysplasia 124 tests
  • Arrhythmogenic right ventricular dysplasia 131 test
  • Arrhythmogenic right ventricular dysplasia 24 tests
  • Arrhythmogenic right ventricular dysplasia 53 tests
  • Arrhythmogenic right ventricular dysplasia 86 tests
  • Arrhythmogenic right ventricular dysplasia 92 tests
  • Arterial calcification, generalized, of infancy, 16 tests
  • Arterial calcification, generalized, of infancy, 24 tests
  • Arterial tortuosity syndrome3 tests
  • Arthrogryposis, distal, type 1A3 tests
  • Arthrogryposis, distal, type 1B2 tests
  • Arthrogryposis, distal, with impaired proprioception and touch1 test
  • Arthrogryposis, renal dysfunction, and cholestasis 13 tests
  • Arthrogryposis, renal dysfunction, and cholestasis 23 tests
  • Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome1 test
  • Arts syndrome6 tests
  • Aspartylglucosaminuria3 tests
  • Asperger syndrome, X-linked, susceptibility to, 12 tests
  • Asperger syndrome, X-linked, susceptibility to, 22 tests
  • Asphyxiating thoracic dystrophy 24 tests
  • Asphyxiating thoracic dystrophy 35 tests
  • Asphyxiating thoracic dystrophy 49 tests
  • Asphyxiating thoracic dystrophy 510 tests
  • Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome2 tests
  • Ataxia - oculomotor apraxia type 45 tests
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia6 tests
  • Ataxia-hypogonadism-choroidal dystrophy syndrome6 tests
  • Ataxia-pancytopenia syndrome2 tests
  • Ataxia-telangiectasia syndrome10 tests
  • Ataxia-telangiectasia-like disorder 13 tests
  • Atelosteogenesis type I4 tests
  • Atelosteogenesis type II2 tests
  • Atelosteogenesis type III4 tests
  • Atrial conduction disease1 test
  • Atrial fibrillation, familial, 105 tests
  • Atrial fibrillation, familial, 111 test
  • Atrial fibrillation, familial, 121 test
  • Atrial fibrillation, familial, 136 tests
  • Atrial fibrillation, familial, 152 tests
  • Atrial fibrillation, familial, 181 test
  • Atrial fibrillation, familial, 37 tests
  • Atrial fibrillation, familial, 43 tests
  • Atrial fibrillation, familial, 73 tests
  • Atrial fibrillation, familial, 96 tests
  • Atrial septal defect 22 tests
  • Atrial septal defect 31 test
  • Atrial septal defect 41 test
  • Atrial septal defect 52 tests
  • Atrial septal defect 61 test
  • Atrial septal defect 73 tests
  • Atrial septal defect 95 tests
  • Atrial standstill 11 test
  • Atrichia with papular lesions1 test
  • Atrioventricular septal defect 42 tests
  • Atrioventricular septal defect 55 tests
  • Atrioventricular septal defect and common atrioventricular junction4 tests
  • Atrioventricular septal defect, susceptibility to, 21 test
  • Atrophia bulborum hereditaria4 tests
  • Atypical glycine encephalopathy1 test
  • Atypical hemolytic-uremic syndrome with B factor anomaly2 tests
  • Atypical hemolytic-uremic syndrome with C3 anomaly2 tests
  • Atypical hemolytic-uremic syndrome with I factor anomaly2 tests
  • Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly2 tests
  • Atypical hemolytic-uremic syndrome with thrombomodulin anomaly4 tests
  • Autism, susceptibility to, 154 tests
  • Autism, susceptibility to, X-linked 12 tests
  • Autism, susceptibility to, X-linked 22 tests
  • Autism, susceptibility to, X-linked 38 tests
  • Autism, susceptibility to, X-linked 42 tests
  • Autism, susceptibility to, X-linked 52 tests
  • Autoimmune lymphoproliferative syndrome type 12 tests
  • Autoimmune lymphoproliferative syndrome type 46 tests
  • Autoimmune thyroid disease, susceptibility to, 31 test
  • Autosomal dominant Alport syndrome2 tests
  • Autosomal dominant aplasia and myelodysplasia3 tests
  • Autosomal dominant auditory neuropathy 11 test
  • Autosomal dominant cerebellar ataxia, deafness and narcolepsy2 tests
  • Autosomal dominant Charcot-Marie-Tooth disease type 2W1 test
  • Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures2 tests
  • Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures4 tests
  • Autosomal dominant distal renal tubular acidosis2 tests
  • Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome8 tests
  • Autosomal dominant hypocalcemia 17 tests
  • Autosomal dominant hypocalcemia 23 tests
  • Autosomal dominant hypophosphatemic rickets5 tests
  • Autosomal dominant Kenny-Caffey syndrome1 test
  • Autosomal dominant keratitis6 tests
  • Autosomal dominant keratitis-ichthyosis-hearing loss syndrome6 tests
  • Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)2 tests
  • Autosomal dominant limb-girdle muscular dystrophy type 1F2 tests
  • Autosomal dominant mitochondrial myopathy with exercise intolerance4 tests
  • Autosomal dominant nocturnal frontal lobe epilepsy 12 tests
  • Autosomal dominant nocturnal frontal lobe epilepsy 32 tests
  • Autosomal dominant nocturnal frontal lobe epilepsy 42 tests
  • Autosomal dominant nocturnal frontal lobe epilepsy 53 tests
  • Autosomal dominant nonsyndromic hearing loss 12 tests
  • Autosomal dominant nonsyndromic hearing loss 102 tests
  • Autosomal dominant nonsyndromic hearing loss 115 tests
  • Autosomal dominant nonsyndromic hearing loss 123 tests
  • Autosomal dominant nonsyndromic hearing loss 1311 tests
  • Autosomal dominant nonsyndromic hearing loss 152 tests
  • Autosomal dominant nonsyndromic hearing loss 176 tests
  • Autosomal dominant nonsyndromic hearing loss 206 tests
  • Autosomal dominant nonsyndromic hearing loss 223 tests
  • Autosomal dominant nonsyndromic hearing loss 233 tests
  • Autosomal dominant nonsyndromic hearing loss 252 tests
  • Autosomal dominant nonsyndromic hearing loss 282 tests
  • Autosomal dominant nonsyndromic hearing loss 2A2 tests
  • Autosomal dominant nonsyndromic hearing loss 2B4 tests
  • Autosomal dominant nonsyndromic hearing loss 363 tests
  • Autosomal dominant nonsyndromic hearing loss 3A6 tests
  • Autosomal dominant nonsyndromic hearing loss 3B5 tests
  • Autosomal dominant nonsyndromic hearing loss 402 tests
  • Autosomal dominant nonsyndromic hearing loss 411 test
  • Autosomal dominant nonsyndromic hearing loss 441 test
  • Autosomal dominant nonsyndromic hearing loss 4A1 test
  • Autosomal dominant nonsyndromic hearing loss 4B1 test
  • Autosomal dominant nonsyndromic hearing loss 502 tests
  • Autosomal dominant nonsyndromic hearing loss 561 test
  • Autosomal dominant nonsyndromic hearing loss 612 tests
  • Autosomal dominant nonsyndromic hearing loss 642 tests
  • Autosomal dominant nonsyndromic hearing loss 655 tests
  • Autosomal dominant nonsyndromic hearing loss 661 test
  • Autosomal dominant nonsyndromic hearing loss 671 test
  • Autosomal dominant nonsyndromic hearing loss 681 test
  • Autosomal dominant nonsyndromic hearing loss 691 test
  • Autosomal dominant nonsyndromic hearing loss 92 tests
  • Autosomal dominant optic atrophy classic form10 tests
  • Autosomal dominant osteopetrosis 18 tests
  • Autosomal dominant osteopetrosis 22 tests
  • Autosomal dominant palmoplantar keratoderma and congenital alopecia4 tests
  • Autosomal dominant Parkinson disease 14 tests
  • Autosomal dominant Parkinson disease 44 tests
  • Autosomal dominant Parkinson disease 81 test
  • Autosomal dominant popliteal pterygium syndrome4 tests
  • Autosomal dominant pseudohypoaldosteronism type 11 test
  • Autosomal dominant Robinow syndrome 13 tests
  • Autosomal dominant Robinow syndrome 22 tests
  • Autosomal dominant vitreoretinochoroidopathy5 tests
  • Autosomal recessive Alport syndrome2 tests
  • Autosomal recessive ataxia due to ubiquinone deficiency3 tests
  • Autosomal recessive ataxia, Beauce type5 tests
  • Autosomal recessive bestrophinopathy5 tests
  • Autosomal recessive complex spastic paraplegia type 9B6 tests
  • Autosomal recessive congenital ichthyosis 12 tests
  • Autosomal recessive congenital ichthyosis 102 tests
  • Autosomal recessive congenital ichthyosis 111 test
  • Autosomal recessive congenital ichthyosis 22 tests
  • Autosomal recessive congenital ichthyosis 32 tests
  • Autosomal recessive congenital ichthyosis 4A2 tests
  • Autosomal recessive congenital ichthyosis 4B2 tests
  • Autosomal recessive congenital ichthyosis 52 tests
  • Autosomal recessive congenital ichthyosis 62 tests
  • Autosomal recessive congenital ichthyosis 81 test
  • Autosomal recessive congenital ichthyosis 92 tests
  • Autosomal recessive cutis laxa type 2B4 tests
  • Autosomal recessive distal renal tubular acidosis1 test
  • Autosomal recessive distal spinal muscular atrophy 12 tests
  • Autosomal recessive distal spinal muscular atrophy 21 test
  • Autosomal recessive DOPA responsive dystonia3 tests
  • Autosomal recessive early-onset Parkinson disease 61 test
  • Autosomal recessive early-onset Parkinson disease 71 test
  • Autosomal recessive hypophosphatemic bone disease6 tests
  • Autosomal recessive inherited pseudoxanthoma elasticum5 tests
  • Autosomal recessive juvenile Parkinson disease 21 test
  • Autosomal recessive Kenny-Caffey syndrome3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2A3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2B3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2C5 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2D3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2E3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2F3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2G2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2I4 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2J3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2K6 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2L3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2M7 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2N1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2O1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2Q4 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2R12 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2T3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2U3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2W2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2Y2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type R182 tests
  • Autosomal recessive multiple pterygium syndrome3 tests
  • Autosomal recessive nonsyndromic hearing loss 1011 test
  • Autosomal recessive nonsyndromic hearing loss 1021 test
  • Autosomal recessive nonsyndromic hearing loss 1031 test
  • Autosomal recessive nonsyndromic hearing loss 1041 test
  • Autosomal recessive nonsyndromic hearing loss 123 tests
  • Autosomal recessive nonsyndromic hearing loss 152 tests
  • Autosomal recessive nonsyndromic hearing loss 161 test
  • Autosomal recessive nonsyndromic hearing loss 18A3 tests
  • Autosomal recessive nonsyndromic hearing loss 18B2 tests
  • Autosomal recessive nonsyndromic hearing loss 1A6 tests
  • Autosomal recessive nonsyndromic hearing loss 1B5 tests
  • Autosomal recessive nonsyndromic hearing loss 25 tests
  • Autosomal recessive nonsyndromic hearing loss 213 tests
  • Autosomal recessive nonsyndromic hearing loss 221 test
  • Autosomal recessive nonsyndromic hearing loss 234 tests
  • Autosomal recessive nonsyndromic hearing loss 242 tests
  • Autosomal recessive nonsyndromic hearing loss 252 tests
  • Autosomal recessive nonsyndromic hearing loss 282 tests
  • Autosomal recessive nonsyndromic hearing loss 292 tests
  • Autosomal recessive nonsyndromic hearing loss 32 tests
  • Autosomal recessive nonsyndromic hearing loss 302 tests
  • Autosomal recessive nonsyndromic hearing loss 312 tests
  • Autosomal recessive nonsyndromic hearing loss 321 test
  • Autosomal recessive nonsyndromic hearing loss 352 tests
  • Autosomal recessive nonsyndromic hearing loss 361 test
  • Autosomal recessive nonsyndromic hearing loss 373 tests
  • Autosomal recessive nonsyndromic hearing loss 392 tests
  • Autosomal recessive nonsyndromic hearing loss 47 tests
  • Autosomal recessive nonsyndromic hearing loss 422 tests
  • Autosomal recessive nonsyndromic hearing loss 441 test
  • Autosomal recessive nonsyndromic hearing loss 483 tests
  • Autosomal recessive nonsyndromic hearing loss 492 tests
  • Autosomal recessive nonsyndromic hearing loss 5311 tests
  • Autosomal recessive nonsyndromic hearing loss 591 test
  • Autosomal recessive nonsyndromic hearing loss 62 tests
  • Autosomal recessive nonsyndromic hearing loss 612 tests
  • Autosomal recessive nonsyndromic hearing loss 632 tests
  • Autosomal recessive nonsyndromic hearing loss 665 tests
  • Autosomal recessive nonsyndromic hearing loss 672 tests
  • Autosomal recessive nonsyndromic hearing loss 681 test
  • Autosomal recessive nonsyndromic hearing loss 73 tests
  • Autosomal recessive nonsyndromic hearing loss 704 tests
  • Autosomal recessive nonsyndromic hearing loss 742 tests
  • Autosomal recessive nonsyndromic hearing loss 761 test
  • Autosomal recessive nonsyndromic hearing loss 773 tests
  • Autosomal recessive nonsyndromic hearing loss 792 tests
  • Autosomal recessive nonsyndromic hearing loss 82 tests
  • Autosomal recessive nonsyndromic hearing loss 84A1 test
  • Autosomal recessive nonsyndromic hearing loss 84B1 test
  • Autosomal recessive nonsyndromic hearing loss 865 tests
  • Autosomal recessive nonsyndromic hearing loss 881 test
  • Autosomal recessive nonsyndromic hearing loss 891 test
  • Autosomal recessive nonsyndromic hearing loss 92 tests
  • Autosomal recessive nonsyndromic hearing loss 912 tests
  • Autosomal recessive nonsyndromic hearing loss 932 tests
  • Autosomal recessive nonsyndromic hearing loss 974 tests
  • Autosomal recessive nonsyndromic hearing loss 982 tests
  • Autosomal recessive optic atrophy, OPA7 type6 tests
  • Autosomal recessive osteopetrosis 12 tests
  • Autosomal recessive osteopetrosis 21 test
  • Autosomal recessive osteopetrosis 42 tests
  • Autosomal recessive osteopetrosis 51 test
  • Autosomal recessive osteopetrosis 73 tests
  • Autosomal recessive osteopetrosis 84 tests
  • Autosomal recessive Parkinson disease 141 test
  • Autosomal recessive proximal renal tubular acidosis1 test
  • Autosomal recessive pseudohypoaldosteronism type 14 tests
  • Autosomal recessive Robinow syndrome4 tests
  • Autosomal recessive severe congenital neutropenia due to CSF3R deficiency2 tests
  • Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency2 tests
  • Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency2 tests
  • Autosomal recessive spastic paraplegia type 762 tests
  • Autosomal recessive spastic paraplegia type 784 tests
  • Autosomal recessive spinocerebellar ataxia 103 tests
  • Autosomal recessive spinocerebellar ataxia 111 test
  • Autosomal recessive spinocerebellar ataxia 124 tests
  • Autosomal recessive spinocerebellar ataxia 132 tests
  • Autosomal recessive spinocerebellar ataxia 142 tests
  • Autosomal recessive spinocerebellar ataxia 151 test
  • Autosomal recessive spinocerebellar ataxia 162 tests
  • Autosomal recessive spinocerebellar ataxia 172 tests
  • Autosomal recessive spinocerebellar ataxia 181 test
  • Autosomal recessive spinocerebellar ataxia 201 test
  • Autosomal recessive spinocerebellar ataxia 75 tests
  • Avascular necrosis of femoral head, primary, 112 tests
  • Avascular necrosis of femoral head, primary, 26 tests
  • Avellino corneal dystrophy2 tests
  • Axenfeld-Rieger syndrome type 13 tests
  • Axenfeld-Rieger syndrome type 31 test
  • Ayme-Gripp syndrome3 tests
  • B4GALT1-congenital disorder of glycosylation1 test
  • Baller-Gerold syndrome9 tests
  • Bamforth-Lazarus syndrome2 tests
  • BAP1-related tumor predisposition syndrome2 tests
  • Baraitser-Winter syndrome 16 tests
  • Baraitser-winter syndrome 26 tests
  • Barber-Say syndrome1 test
  • Bardet-Biedl syndrome 18 tests
  • Bardet-Biedl syndrome 107 tests
  • Bardet-Biedl syndrome 119 tests
  • Bardet-Biedl syndrome 127 tests
  • Bardet-Biedl syndrome 1311 tests
  • Bardet-Biedl syndrome 1413 tests
  • Bardet-Biedl syndrome 156 tests
  • Bardet-Biedl syndrome 166 tests
  • Bardet-Biedl syndrome 173 tests
  • Bardet-Biedl syndrome 183 tests
  • Bardet-Biedl syndrome 28 tests
  • Bardet-biedl syndrome 215 tests
  • Bardet-Biedl syndrome 38 tests
  • Bardet-Biedl syndrome 48 tests
  • Bardet-Biedl syndrome 57 tests
  • Bardet-Biedl syndrome 67 tests
  • Bardet-Biedl syndrome 77 tests
  • Bardet-Biedl syndrome 88 tests
  • Bardet-Biedl syndrome 97 tests
  • Bartsocas-Papas syndrome 12 tests
  • Bartter disease type 12 tests
  • Bartter disease type 22 tests
  • Bartter disease type 32 tests
  • Bartter disease type 4A4 tests
  • Bartter disease type 4B2 tests
  • Basal cell carcinoma, susceptibility to, 18 tests
  • Basal cell carcinoma, susceptibility to, 714 tests
  • Basal ganglia calcification, idiopathic, 42 tests
  • Basal ganglia calcification, idiopathic, 53 tests
  • Basal laminar drusen3 tests
  • Beare-Stevenson cutis gyrata syndrome3 tests
  • Becker muscular dystrophy4 tests
  • Beckwith-Wiedemann syndrome8 tests
  • Benign familial hematuria2 tests
  • Benign hereditary chorea5 tests
  • Benign recurrent intrahepatic cholestasis type 11 test
  • Benign recurrent intrahepatic cholestasis type 21 test
  • Bent bone dysplasia syndrome 13 tests
  • Bernard Soulier syndrome3 tests
  • Bernard-Soulier syndrome, type A2, autosomal dominant3 tests
  • Beta-D-mannosidosis1 test
  • Beta-hydroxyisobutyryl-CoA deacylase deficiency7 tests
  • Beta-thalassemia-X-linked thrombocytopenia syndrome4 tests
  • Bethlem myopathy 1A3 tests
  • Bethlem myopathy 21 test
  • Bietti crystalline corneoretinal dystrophy6 tests
  • Bifunctional peroxisomal enzyme deficiency1 test
  • Bilateral frontoparietal polymicrogyria2 tests
  • Bilateral parasagittal parieto-occipital polymicrogyria2 tests
  • Bilirubin, serum level of, quantitative trait locus 12 tests
  • Biotin-responsive basal ganglia disease3 tests
  • Biotinidase deficiency4 tests
  • Birt-Hogg-Dube syndrome3 tests
  • Blau syndrome1 test
  • Bleeding disorder, platelet-type, 13, susceptibility to2 tests
  • Bleeding disorder, platelet-type, 212 tests
  • Blepharocheilodontic syndrome 15 tests
  • Blepharophimosis - intellectual disability syndrome, MKB type6 tests
  • Blepharophimosis - intellectual disability syndrome, SBBYS type3 tests
  • Blepharophimosis, ptosis, and epicanthus inversus syndrome1 test
  • Blood group, I system1 test
  • Blood group, Indian system1 test
  • BLOOD GROUP--DIEGO SYSTEM2 tests
  • BLOOD GROUP--FROESE2 tests
  • BLOOD GROUP--SWANN SYSTEM2 tests
  • BLOOD GROUP--WALDNER TYPE2 tests
  • BLOOD GROUP--WRIGHT ANTIGEN2 tests
  • Bloom syndrome6 tests
  • BNAR syndrome3 tests
  • Body mass index quantitative trait locus 121 test
  • Body mass index quantitative trait locus 42 tests
  • Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency3 tests
  • Bohring-Opitz syndrome1 test
  • Bone fragility with contractures, arterial rupture, and deafness1 test
  • Bone marrow failure syndrome 31 test
  • Bone mineral density quantitative trait locus 18 tests
  • Bone mineral density quantitative trait locus 184 tests
  • Bone osteosarcoma16 tests
  • Boomerang dysplasia4 tests
  • Borjeson-Forssman-Lehmann syndrome3 tests
  • Bosch-Boonstra-Schaaf optic atrophy syndrome4 tests
  • Bothnia retinal dystrophy5 tests
  • Brachydactyly type A1A4 tests
  • Brachydactyly type A1C6 tests
  • Brachydactyly type A1D4 tests
  • Brachydactyly type B14 tests
  • Brachydactyly type B23 tests
  • Brachydactyly type C6 tests
  • Brachydactyly type D2 tests
  • Brachydactyly type E12 tests
  • Brachydactyly type E22 tests
  • Brachydactyly-syndactyly syndrome2 tests
  • Brachyolmia-amelogenesis imperfecta syndrome1 test
  • Brachyrachia (short spine dysplasia)6 tests
  • Bradyopsia3 tests
  • Brain small vessel disease 1 with or without ocular anomalies8 tests
  • Brain-lung-thyroid syndrome5 tests
  • Branchiooculofacial syndrome2 tests
  • Branchiootic syndrome 14 tests
  • Branchiootic syndrome 33 tests
  • Branchiootorenal syndrome 14 tests
  • Branchiootorenal syndrome 23 tests
  • Breast-ovarian cancer, familial, susceptibility to, 18 tests
  • Breast-ovarian cancer, familial, susceptibility to, 212 tests
  • Breast-ovarian cancer, familial, susceptibility to, 37 tests
  • Breast-ovarian cancer, familial, susceptibility to, 44 tests
  • Brittle cornea syndrome 13 tests
  • Brittle cornea syndrome 21 test
  • Bronchiectasis with or without elevated sweat chloride 110 tests
  • Bronchiectasis with or without elevated sweat chloride 23 tests
  • Bronchiectasis with or without elevated sweat chloride 32 tests
  • Brown-Vialetto-van Laere syndrome 11 test
  • Brown-Vialetto-van Laere syndrome 25 tests
  • Bruck syndrome 15 tests
  • Bruck syndrome 25 tests
  • Brugada syndrome 15 tests
  • Brugada syndrome 35 tests
  • Brugada syndrome 44 tests
  • Brugada syndrome 56 tests
  • Brugada syndrome 73 tests
  • Brugada syndrome 83 tests
  • Brugada syndrome 92 tests
  • Brunner syndrome1 test
  • Budd-Chiari syndrome2 tests
  • Bullous ichthyosiform erythroderma4 tests
  • C1 inhibitor deficiency1 test
  • C1Q deficiency1 test
  • Café-au-lait macules with pulmonary stenosis14 tests
  • Calcium oxalate urolithiasis1 test
  • Camptodactyly-tall stature-scoliosis-hearing loss syndrome8 tests
  • Camptomelic dysplasia6 tests
  • Camptosynpolydactyly, complex1 test
  • Capillary infantile hemangioma2 tests
  • Capillary malformation-arteriovenous malformation 15 tests
  • CARASIL syndrome3 tests
  • Carcinoid tumor of intestine4 tests
  • Carcinoma of pancreas22 tests
  • Cardiac arrhythmia, ankyrin-B-related3 tests
  • Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies1 test
  • Cardiac valvular dysplasia, X-linked12 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 13 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 23 tests
  • Cardiofaciocutaneous syndrome 15 tests
  • Cardiofaciocutaneous syndrome 24 tests
  • Cardiofaciocutaneous syndrome 34 tests
  • Cardiofaciocutaneous syndrome 44 tests
  • Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis6 tests
  • Cardiomyopathy, familial restrictive, 12 tests
  • Cardiomyopathy, familial restrictive, 31 test
  • Cardiomyopathy-hypotonia-lactic acidosis syndrome2 tests
  • Carney complex - trismus - pseudocamptodactyly syndrome2 tests
  • Carney complex, type 15 tests
  • Carney-Stratakis syndrome4 tests
  • Carnitine acylcarnitine translocase deficiency4 tests
  • Carnitine palmitoyl transferase 1A deficiency2 tests
  • Carnitine palmitoyl transferase II deficiency, myopathic form7 tests
  • Carnitine palmitoyl transferase II deficiency, neonatal form7 tests
  • Carnitine palmitoyl transferase II deficiency, severe infantile form7 tests
  • Carotid intimal medial thickness 15 tests
  • Carpal tunnel syndrome 11 test
  • Cataract 1 multiple types2 tests
  • Cataract 10 multiple types1 test
  • Cataract 11 multiple types1 test
  • 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 types3 tests
  • Cataract 17 multiple types1 test
  • Cataract 181 test
  • Cataract 19 multiple types1 test
  • Cataract 2, multiple types1 test
  • Cataract 20 multiple types1 test
  • Cataract 21 multiple types3 tests
  • 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 types3 tests
  • Cataract 361 test
  • Cataract 383 tests
  • Cataract 4 multiple types1 test
  • Cataract 402 tests
  • Cataract 4112 tests
  • Cataract 5 multiple types1 test
  • Cataract 6 multiple types1 test
  • Cataract 9 multiple types1 test
  • Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome1 test
  • Catecholaminergic polymorphic ventricular tachycardia 14 tests
  • Catecholaminergic polymorphic ventricular tachycardia 22 tests
  • Catecholaminergic polymorphic ventricular tachycardia 33 tests
  • Catecholaminergic polymorphic ventricular tachycardia 43 tests
  • Catecholaminergic polymorphic ventricular tachycardia 52 tests
  • Catel-Manzke syndrome2 tests
  • Cayman type cerebellar ataxia2 tests
  • CBL-related disorder5 tests
  • CEDNIK syndrome2 tests
  • Cenani-Lenz syndactyly syndrome1 test
  • Centra precocious puberty 12 tests
  • Central core myopathy4 tests
  • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 14 tests
  • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 22 tests
  • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 32 tests
  • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 42 tests
  • Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome6 tests
  • Cerebellar ataxia-hypogonadism syndrome4 tests
  • Cerebellar atrophy, visual impairment, and psychomotor retardation;1 test
  • Cerebellar dysfunction with variable cognitive and behavioral abnormalities2 tests
  • Cerebral amyloid angiopathy, APP-related4 tests
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 14 tests
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 23 tests
  • Cerebral cavernous malformation2 tests
  • Cerebral cavernous malformation 22 tests
  • Cerebral cavernous malformation 32 tests
  • Cerebral folate transport deficiency4 tests
  • Cerebrooculofacioskeletal syndrome 13 tests
  • Cerebrooculofacioskeletal syndrome 26 tests
  • Cerebrooculofacioskeletal syndrome 35 tests
  • Cerebrooculofacioskeletal syndrome 42 tests
  • Cerebroretinal microangiopathy with calcifications and cysts 18 tests
  • Cernunnos-XLF deficiency1 test
  • Ceroid lipofuscinosis, neuronal, 4 (Kufs type)2 tests
  • Ceroid lipofuscinosis, neuronal, 6A3 tests
  • Ceroid lipofuscinosis, neuronal, 6B (Kufs type)3 tests
  • Cervical cancer8 tests
  • CFHR5 deficiency1 test
  • Channelopathy-associated congenital insensitivity to pain, autosomal recessive2 tests
  • Char syndrome1 test
  • Charcot-Marie-Tooth disease axonal type 2C6 tests
  • Charcot-Marie-Tooth disease axonal type 2F2 tests
  • Charcot-Marie-Tooth disease axonal type 2L2 tests
  • Charcot-Marie-Tooth disease axonal type 2N1 test
  • Charcot-Marie-Tooth disease axonal type 2O4 tests
  • Charcot-Marie-Tooth disease axonal type 2S2 tests
  • Charcot-Marie-Tooth disease axonal type 2T1 test
  • Charcot-Marie-Tooth disease axonal type 2V1 test
  • Charcot-Marie-Tooth disease axonal type 2X2 tests
  • Charcot-Marie-Tooth disease dominant intermediate D1 test
  • Charcot-Marie-Tooth disease dominant intermediate E1 test
  • Charcot-Marie-Tooth disease recessive intermediate B1 test
  • Charcot-Marie-Tooth disease recessive intermediate C1 test
  • Charcot-Marie-Tooth disease type 1B1 test
  • Charcot-Marie-Tooth disease type 1D1 test
  • Charcot-Marie-Tooth disease type 2A11 test
  • Charcot-Marie-Tooth disease type 2A25 tests
  • Charcot-Marie-Tooth disease type 2B111 tests
  • Charcot-Marie-Tooth disease type 2D2 tests
  • Charcot-Marie-Tooth disease type 2I1 test
  • Charcot-Marie-Tooth disease type 2J1 test
  • Charcot-Marie-Tooth disease type 2Y2 tests
  • Charcot-Marie-Tooth disease type 4E1 test
  • Charcot-Marie-Tooth disease type 4G2 tests
  • Charcot-Marie-Tooth disease type 4J2 tests
  • Charcot-Marie-Tooth disease type 4K1 test
  • Charcot-Marie-Tooth disease X-linked recessive 42 tests
  • Charcot-Marie-Tooth disease X-linked recessive 56 tests
  • Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;5 tests
  • CHARGE syndrome5 tests
  • Charlevoix-Saguenay spastic ataxia3 tests
  • Chilblain lupus 15 tests
  • Chilblain lupus 24 tests
  • Child syndrome6 tests
  • Childhood apraxia of speech1 test
  • Childhood encephalopathy due to thiamine pyrophosphokinase deficiency1 test
  • Childhood hypophosphatasia8 tests
  • Childhood onset GLUT1 deficiency syndrome 210 tests
  • Chitayat syndrome2 tests
  • Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome2 tests
  • Cholestanol storage disease6 tests
  • Cholestasis, intrahepatic, of pregnancy, 11 test
  • Cholestasis, intrahepatic, of pregnancy, 31 test
  • Cholestasis, progressive familial intrahepatic, 43 tests
  • Cholestasis, progressive familial intrahepatic, 52 tests
  • Chondrocalcinosis 24 tests
  • Chondrodysplasia Blomstrand type4 tests
  • Chondrodysplasia punctata 2 X-linked dominant4 tests
  • Chondrodysplasia with joint dislocations, gPAPP type1 test
  • Chondrosarcoma3 tests
  • Chorea-acanthocytosis3 tests
  • Choroid plexus papilloma14 tests
  • Choroidal dystrophy, central areolar 25 tests
  • Choroideremia3 tests
  • Christianson syndrome5 tests
  • Chromosome 17q11.2 deletion syndrome, 1.4Mb1 test
  • Chromosome 2p16.3 deletion syndrome3 tests
  • Chromosome 2q32-q33 deletion syndrome1 test
  • Chronic infantile neurological, cutaneous and articular syndrome1 test
  • Chudley-McCullough syndrome6 tests
  • Chuvash polycythemia6 tests
  • Chylomicron retention disease1 test
  • Chédiak-Higashi syndrome3 tests
  • CIDEC-related familial partial lipodystrophy1 test
  • Ciliary dyskinesia, primary, 36, X-linked3 tests
  • Ciliary dyskinesia, primary, 372 tests
  • Citrullinemia type I1 test
  • Citrullinemia, type II, adult-onset2 tests
  • CK syndrome6 tests
  • Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency2 tests
  • Classic dopamine transporter deficiency syndrome2 tests
  • Classic homocystinuria6 tests
  • Cleft palate with or without ankyloglossia, X-linked1 test
  • Cleidocranial dysostosis3 tests
  • CLOVES syndrome5 tests
  • COACH syndrome 19 tests
  • Cobalamin C disease3 tests
  • Cobblestone lissencephaly without muscular or ocular involvement3 tests
  • Cockayne syndrome type 12 tests
  • Cockayne syndrome type 23 tests
  • Cocoon syndrome1 test
  • CODAS syndrome1 test
  • Coenzyme Q10 deficiency, primary, 15 tests
  • Coenzyme Q10 deficiency, primary, 32 tests
  • Coffin-Lowry syndrome3 tests
  • 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 glycosylation1 test
  • COG8-congenital disorder of glycosylation1 test
  • Cognitive impairment with or without cerebellar ataxia4 tests
  • Cohen syndrome6 tests
  • Cohen-Gibson syndrome1 test
  • Colchicine resistance1 test
  • Cole-Carpenter syndrome 21 test
  • Coloboma of optic nerve6 tests
  • Coloboma, ocular, autosomal dominant6 tests
  • Colorectal cancer37 tests
  • Colorectal cancer, hereditary nonpolyposis, type 213 tests
  • Colorectal cancer, hereditary nonpolyposis, type 66 tests
  • Colorectal cancer, susceptibility to, 101 test
  • Colorectal cancer, susceptibility to, 121 test
  • Colorectal carcinoma4 tests
  • Combined deficiency of sialidase AND beta galactosidase1 test
  • Combined immunodeficiency due to STIM1 deficiency1 test
  • Combined malonic and methylmalonic acidemia2 tests
  • Combined oxidative phosphorylation defect type 112 tests
  • Combined oxidative phosphorylation defect type 134 tests
  • Combined oxidative phosphorylation defect type 145 tests
  • Combined oxidative phosphorylation defect type 156 tests
  • Combined oxidative phosphorylation defect type 201 test
  • Combined oxidative phosphorylation defect type 232 tests
  • Combined oxidative phosphorylation defect type 241 test
  • Combined oxidative phosphorylation defect type 255 tests
  • Combined oxidative phosphorylation defect type 74 tests
  • Combined oxidative phosphorylation deficiency 281 test
  • Combined PSAP deficiency3 tests
  • Complement component 2 deficiency1 test
  • Complement component 3 deficiency2 tests
  • Complement component 5 deficiency1 test
  • Complement component 6 deficiency1 test
  • Complement component 7 deficiency1 test
  • Complement component 9 deficiency1 test
  • Complement component C1s deficiency1 test
  • Complement factor b deficiency2 tests
  • Complete trisomy 21 syndrome4 tests
  • Complex cortical dysplasia with other brain malformations 13 tests
  • Complex cortical dysplasia with other brain malformations 42 tests
  • Complex cortical dysplasia with other brain malformations 52 tests
  • Complex cortical dysplasia with other brain malformations 74 tests
  • Compton-North congenital myopathy1 test
  • Cone dystrophy 32 tests
  • Cone dystrophy 43 tests
  • Cone dystrophy with supernormal rod response2 tests
  • Cone-rod dystrophy 103 tests
  • Cone-rod dystrophy 113 tests
  • Cone-rod dystrophy 126 tests
  • Cone-rod dystrophy 134 tests
  • Cone-rod dystrophy 153 tests
  • Cone-rod dystrophy 165 tests
  • Cone-rod dystrophy 182 tests
  • Cone-rod dystrophy 192 tests
  • Cone-rod dystrophy 25 tests
  • Cone-rod dystrophy 203 tests
  • Cone-rod dystrophy 212 tests
  • Cone-rod dystrophy 36 tests
  • Cone-rod dystrophy 53 tests
  • Cone-rod dystrophy 64 tests
  • Cone-rod dystrophy 73 tests
  • Cone-rod dystrophy 92 tests
  • Cone-rod dystrophy and hearing loss 12 tests
  • Cone-rod synaptic disorder, congenital nonprogressive4 tests
  • Congenital absence of salivary gland1 test
  • Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency5 tests
  • Congenital adrenal hypoplasia, X-linked1 test
  • Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency2 tests
  • Congenital afibrinogenemia3 tests
  • Congenital amegakaryocytic thrombocytopenia3 tests
  • Congenital anomalies of kidney and urinary tract 11 test
  • Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay1 test
  • Congenital bilateral aplasia of vas deferens from CFTR mutation8 tests
  • Congenital bile acid synthesis defect 11 test
  • Congenital bile acid synthesis defect 21 test
  • Congenital bile acid synthesis defect 32 tests
  • Congenital bile acid synthesis defect 43 tests
  • Congenital bile acid synthesis defect 51 test
  • Congenital brain dysgenesis due to glutamine synthetase deficiency1 test
  • Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome1 test
  • Congenital cataracts-facial dysmorphism-neuropathy syndrome1 test
  • Congenital central hypoventilation10 tests
  • Congenital contractural arachnodactyly5 tests
  • Congenital contractures of the limbs and face, hypotonia, and developmental delay1 test
  • Congenital defect of folate absorption4 tests
  • Congenital diarrhea 5 with tufting enteropathy10 tests
  • Congenital disorder of deglycosylation1 test
  • Congenital disorder of glycosylation type 1E1 test
  • Congenital disorder of glycosylation type Ir1 test
  • Congenital dyserythropoietic anemia, type II1 test
  • Congenital fibrosis of extraocular muscles type 11 test
  • Congenital generalized lipodystrophy type 13 tests
  • Congenital generalized lipodystrophy type 27 tests
  • Congenital generalized lipodystrophy type 33 tests
  • Congenital generalized lipodystrophy type 41 test
  • Congenital glucose-galactose malabsorption1 test
  • Congenital heart defects and ectodermal dysplasia2 tests
  • Congenital heart defects and skeletal malformations syndrome3 tests
  • Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1 test
  • Congenital heart defects, multiple types, 21 test
  • Congenital heart defects, multiple types, 41 test
  • Congenital heart defects, multiple types, 62 tests
  • Congenital hereditary endothelial dystrophy of cornea1 test
  • Congenital hyperammonemia, type I1 test
  • Congenital hypotrichosis with juvenile macular dystrophy3 tests
  • Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome6 tests
  • Congenital lactase deficiency2 tests
  • Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type5 tests
  • Congenital lipoid adrenal hyperplasia due to STAR deficency4 tests
  • Congenital malabsorptive diarrhea 43 tests
  • Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome2 tests
  • Congenital microvillous atrophy1 test
  • Congenital multicore myopathy with external ophthalmoplegia4 tests
  • Congenital muscular dystrophy due to integrin alpha-7 deficiency3 tests
  • Congenital muscular dystrophy due to LMNA mutation11 tests
  • Congenital muscular dystrophy with intellectual disability and severe epilepsy1 test
  • Congenital muscular hypertrophy-cerebral syndrome5 tests
  • Congenital myasthenic syndrome 103 tests
  • Congenital myasthenic syndrome 115 tests
  • Congenital myasthenic syndrome 122 tests
  • Congenital myasthenic syndrome 133 tests
  • Congenital myasthenic syndrome 141 test
  • Congenital myasthenic syndrome 165 tests
  • Congenital myasthenic syndrome 171 test
  • Congenital myasthenic syndrome 182 tests
  • Congenital myasthenic syndrome 1A5 tests
  • Congenital myasthenic syndrome 201 test
  • Congenital myasthenic syndrome 2A4 tests
  • Congenital myasthenic syndrome 2C4 tests
  • Congenital myasthenic syndrome 3A5 tests
  • Congenital myasthenic syndrome 3B5 tests
  • Congenital myasthenic syndrome 3C5 tests
  • Congenital myasthenic syndrome 4A5 tests
  • Congenital myasthenic syndrome 4B5 tests
  • Congenital myasthenic syndrome 4C5 tests
  • Congenital myasthenic syndrome 55 tests
  • Congenital myasthenic syndrome 82 tests
  • Congenital myasthenic syndrome 93 tests
  • Congenital myopathy 233 tests
  • Congenital myopathy 4B, autosomal recessive2 tests
  • Congenital myopathy with fiber type disproportion3 tests
  • Congenital myotonia, autosomal dominant form1 test
  • Congenital myotonia, autosomal recessive form1 test
  • Congenital neutropenia-myelofibrosis-nephromegaly syndrome2 tests
  • Congenital nongoitrous hypothryoidism 61 test
  • Congenital primary aphakia3 tests
  • Congenital prothrombin deficiency2 tests
  • Congenital reticular ichthyosiform erythroderma2 tests
  • Congenital secretory diarrhea, chloride type1 test
  • Congenital short bowel syndrome, autosomal recessive1 test
  • Congenital sodium diarrhea1 test
  • Congenital stationary night blindness 1A2 tests
  • Congenital stationary night blindness 1B2 tests
  • Congenital stationary night blindness 1C2 tests
  • Congenital stationary night blindness 1D1 test
  • Congenital stationary night blindness 1E2 tests
  • Congenital stationary night blindness 1F2 tests
  • Congenital stationary night blindness 1G2 tests
  • Congenital stationary night blindness 1H1 test
  • Congenital stationary night blindness 2A3 tests
  • Congenital stationary night blindness autosomal dominant 14 tests
  • Congenital stationary night blindness autosomal dominant 23 tests
  • Congenital stationary night blindness autosomal dominant 32 tests
  • Congenital stromal corneal dystrophy1 test
  • Conotruncal heart malformations7 tests
  • Constitutional megaloblastic anemia with severe neurologic disease2 tests
  • Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A3 tests
  • COPD, severe early onset4 tests
  • Cornea plana 21 test
  • Corneal dystrophy, Fuchs endothelial, 11 test
  • Corneal dystrophy, Fuchs endothelial, 36 tests
  • Corneal dystrophy, Fuchs endothelial, 41 test
  • Corneal dystrophy, Fuchs endothelial, 61 test
  • Corneal dystrophy, lattice type 3A2 tests
  • Corneal dystrophy, Meesmann, 11 test
  • Corneal dystrophy-perceptive deafness syndrome1 test
  • Cornelia de Lange syndrome 13 tests
  • Cornelia de Lange syndrome 33 tests
  • Cornelia de Lange syndrome 42 tests
  • Cornelia de Lange syndrome 53 tests
  • Coronary artery disease, autosomal dominant 23 tests
  • Coronary artery disease, autosomal dominant, 11 test
  • Corpus callosum agenesis-abnormal genitalia syndrome7 tests
  • Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome1 test
  • Cortical dysplasia-focal epilepsy syndrome4 tests
  • Costello syndrome8 tests
  • Cowden syndrome 114 tests
  • Cowden syndrome 55 tests
  • Cowden syndrome 61 test
  • Cowden syndrome 71 test
  • Coxopodopatellar syndrome1 test
  • Craniodiaphyseal dysplasia, autosomal dominant2 tests
  • Cranioectodermal dysplasia 16 tests
  • Cranioectodermal dysplasia 28 tests
  • Cranioectodermal dysplasia 32 tests
  • Cranioectodermal dysplasia 410 tests
  • Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 11 test
  • Craniofacial dysplasia - osteopenia syndrome1 test
  • Craniofacial-deafness-hand syndrome1 test
  • Craniofrontonasal syndrome3 tests
  • Craniometaphyseal dysplasia, autosomal dominant4 tests
  • Craniometaphyseal dysplasia, autosomal recessive4 tests
  • Craniosynostosis 22 tests
  • Craniosynostosis 42 tests
  • Craniosynostosis 5, susceptibility to3 tests
  • Craniosynostosis 61 test
  • Craniosynostosis 72 tests
  • Craniosynostosis and dental anomalies2 tests
  • Creatine transporter deficiency4 tests
  • Crigler-Najjar syndrome type 12 tests
  • Crigler-Najjar syndrome, type II2 tests
  • Cromer blood group system1 test
  • Crouzon syndrome3 tests
  • Crouzon syndrome-acanthosis nigricans syndrome8 tests
  • Cryohydrocytosis2 tests
  • Curry-Hall syndrome6 tests
  • Cutaneous porphyria1 test
  • Cutis laxa with osteodystrophy6 tests
  • Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies4 tests
  • Cutis laxa, autosomal dominant 17 tests
  • Cutis laxa, autosomal dominant 26 tests
  • Cutis laxa, autosomal dominant 36 tests
  • Cutis laxa, autosomal recessive, type 1A6 tests
  • Cutis laxa, autosomal recessive, type 1B7 tests
  • Cutis laxa, X-linked5 tests
  • Cyclical neutropenia2 tests
  • CYP2C19-related poor drug metabolism1 test
  • Cystathioninuria1 test
  • Cystic fibrosis10 tests
  • Cystic leukoencephalopathy without megalencephaly2 tests
  • Cystinuria2 tests
  • D-2-hydroxyglutaric aciduria 15 tests
  • D-2-hydroxyglutaric aciduria 21 test
  • Dalmatian hypouricemia1 test
  • Danon disease6 tests
  • DDX41-related hematologic malignancy predisposition syndrome2 tests
  • DE SANCTIS-CACCHIONE SYNDROME3 tests
  • Deafness dystonia syndrome5 tests
  • Deafness, autosomal dominant 39, with dentinogenesis imperfecta 12 tests
  • Deafness, X-linked 52 tests
  • Deafness-encephaloneuropathy-obesity-valvulopathy syndrome1 test
  • Deafness-lymphedema-leukemia syndrome5 tests
  • Deficiency of 2-methylbutyryl-CoA dehydrogenase2 tests
  • Deficiency of 3-hydroxyacyl-CoA dehydrogenase3 tests
  • Deficiency of acetyl-CoA acetyltransferase2 tests
  • Deficiency of alpha-mannosidase1 test
  • Deficiency of aromatic-L-amino-acid decarboxylase1 test
  • Deficiency of butyryl-CoA dehydrogenase3 tests
  • Deficiency of ferroxidase1 test
  • Deficiency of galactokinase5 tests
  • Deficiency of guanidinoacetate methyltransferase6 tests
  • Deficiency of hyaluronoglucosaminidase1 test
  • Deficiency of hydroxymethylglutaryl-CoA lyase4 tests
  • Deficiency of iodide peroxidase1 test
  • Deficiency of isobutyryl-CoA dehydrogenase1 test
  • Deficiency of malonyl-CoA decarboxylase1 test
  • Deficiency of steroid 11-beta-monooxygenase2 tests
  • Deficiency of steroid 17-alpha-monooxygenase3 tests
  • Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase6 tests
  • Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema1 test
  • Dejerine-Sottas disease1 test
  • Dent disease type 15 tests
  • Dent disease type 23 tests
  • Denticles2 tests
  • Dentinogenesis imperfecta type 22 tests
  • Dentinogenesis imperfecta type 32 tests
  • Dermatitis, atopic, 22 tests
  • Dermatofibrosarcoma protuberans3 tests
  • Dermatofibrosis lenticularis disseminata1 test
  • Dermatopathia pigmentosa reticularis3 tests
  • Desbuquois dysplasia 12 tests
  • Desbuquois dysplasia 22 tests
  • Desmin-related myofibrillar myopathy3 tests
  • Desmoid disease, hereditary7 tests
  • Desmosterolosis3 tests
  • Developmental and epileptic encephalopathy 942 tests
  • Developmental and epileptic encephalopathy, 17 tests
  • Developmental and epileptic encephalopathy, 114 tests
  • Developmental and epileptic encephalopathy, 122 tests
  • Developmental and epileptic encephalopathy, 134 tests
  • Developmental and epileptic encephalopathy, 143 tests
  • Developmental and epileptic encephalopathy, 152 tests
  • Developmental and epileptic encephalopathy, 165 tests
  • Developmental and epileptic encephalopathy, 172 tests
  • Developmental and epileptic encephalopathy, 182 tests
  • Developmental and epileptic encephalopathy, 193 tests
  • Developmental and epileptic encephalopathy, 25 tests
  • Developmental and epileptic encephalopathy, 212 tests
  • Developmental and epileptic encephalopathy, 232 tests
  • Developmental and epileptic encephalopathy, 243 tests
  • Developmental and epileptic encephalopathy, 252 tests
  • Developmental and epileptic encephalopathy, 262 tests
  • Developmental and epileptic encephalopathy, 273 tests
  • Developmental and epileptic encephalopathy, 284 tests
  • Developmental and epileptic encephalopathy, 291 test
  • Developmental and epileptic encephalopathy, 32 tests
  • Developmental and epileptic encephalopathy, 302 tests
  • Developmental and epileptic encephalopathy, 312 tests
  • Developmental and epileptic encephalopathy, 323 tests
  • Developmental and epileptic encephalopathy, 333 tests
  • Developmental and epileptic encephalopathy, 342 tests
  • Developmental and epileptic encephalopathy, 363 tests
  • Developmental and epileptic encephalopathy, 43 tests
  • Developmental and epileptic encephalopathy, 425 tests
  • Developmental and epileptic encephalopathy, 433 tests
  • Developmental and epileptic encephalopathy, 443 tests
  • Developmental and epileptic encephalopathy, 472 tests
  • Developmental and epileptic encephalopathy, 52 tests
  • Developmental and epileptic encephalopathy, 526 tests
  • Developmental and epileptic encephalopathy, 533 tests
  • Developmental and epileptic encephalopathy, 542 tests
  • Developmental and epileptic encephalopathy, 74 tests
  • Developmental and epileptic encephalopathy, 83 tests
  • Developmental and epileptic encephalopathy, 93 tests
  • Developmental delay with autism spectrum disorder and gait instability1 test
  • Developmental malformations-deafness-dystonia syndrome6 tests
  • Diabetes insipidus, nephrogenic, autosomal1 test
  • Diabetes insipidus, nephrogenic, X-linked1 test
  • Diabetes mellitus type 14 tests
  • Diabetes mellitus, ketosis-prone3 tests
  • Diabetes mellitus, noninsulin-dependent, 52 tests
  • Diabetes mellitus, transient neonatal, 11 test
  • Diabetes mellitus, transient neonatal, 24 tests
  • Diabetes mellitus, transient neonatal, 34 tests
  • Diamond-Blackfan anemia 12 tests
  • Diamond-Blackfan anemia 102 tests
  • Diamond-Blackfan anemia 122 tests
  • Diamond-Blackfan anemia 132 tests
  • Diamond-Blackfan anemia 32 tests
  • Diamond-Blackfan anemia 52 tests
  • Diamond-Blackfan anemia 62 tests
  • Diamond-Blackfan anemia 72 tests
  • Diamond-Blackfan anemia 82 tests
  • Diamond-Blackfan anemia 92 tests
  • Diaphragmatic hernia 32 tests
  • Diaphyseal dysplasia2 tests
  • Dias-Logan syndrome1 test
  • Diastrophic dysplasia2 tests
  • DICER1-related tumor predisposition3 tests
  • Diffuse nonepidermolytic palmoplantar keratoderma4 tests
  • DiGeorge syndrome1 test
  • Dihydropteridine reductase deficiency4 tests
  • Dihydropyrimidinase deficiency2 tests
  • Dihydropyrimidine dehydrogenase deficiency3 tests
  • Dilated cardiomyopathy 1A11 tests
  • Dilated cardiomyopathy 1BB3 tests
  • Dilated cardiomyopathy 1C3 tests
  • Dilated cardiomyopathy 1D1 test
  • Dilated cardiomyopathy 1E5 tests
  • Dilated cardiomyopathy 1EE1 test
  • Dilated cardiomyopathy 1FF2 tests
  • Dilated cardiomyopathy 1G3 tests
  • Dilated cardiomyopathy 1GG4 tests
  • Dilated cardiomyopathy 1HH1 test
  • Dilated cardiomyopathy 1I3 tests
  • Dilated cardiomyopathy 1II3 tests
  • Dilated cardiomyopathy 1J2 tests
  • Dilated cardiomyopathy 1L3 tests
  • Dilated cardiomyopathy 1NN3 tests
  • Dilated cardiomyopathy 1O1 test
  • Dilated cardiomyopathy 1P1 test
  • Dilated cardiomyopathy 1R2 tests
  • Dilated cardiomyopathy 1S3 tests
  • Dilated cardiomyopathy 1U3 tests
  • Dilated cardiomyopathy 1V3 tests
  • Dilated cardiomyopathy 1X7 tests
  • Dilated cardiomyopathy 1Y1 test
  • Dilated cardiomyopathy 2A2 tests
  • Dilated cardiomyopathy 3B4 tests
  • Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome11 tests
  • Disorder due cytochrome p450 CYP2D6 variant3 tests
  • Distal arthrogryposis type 2B14 tests
  • Distal arthrogryposis type 5D2 tests
  • Distal myopathy with anterior tibial onset3 tests
  • Distal myopathy, Tateyama type7 tests
  • Distichiasis-lymphedema syndrome2 tests
  • Dizygotic twins2 tests
  • DK1-congenital disorder of glycosylation1 test
  • DNA ligase IV deficiency1 test
  • Dominant dystrophic epidermolysis bullosa with absence of skin2 tests
  • Donnai-Barrow syndrome2 tests
  • DOORS syndrome5 tests
  • Dopa-responsive dystonia due to sepiapterin reductase deficiency3 tests
  • Dowling-Degos disease 12 tests
  • Dowling-Degos disease 42 tests
  • Doyne honeycomb retinal dystrophy2 tests
  • DPAGT1-congenital disorder of glycosylation3 tests
  • DPM3-congenital disorder of glycosylation1 test
  • Drash syndrome7 tests
  • Duane retraction syndrome 21 test
  • Duane retraction syndrome 3 with or without deafness1 test
  • Duane-radial ray syndrome4 tests
  • Dubin-Johnson syndrome1 test
  • Duchenne muscular dystrophy4 tests
  • Dyggve-Melchior-Clausen syndrome4 tests
  • DYRK1A-related intellectual disability syndrome1 test
  • Dyschromatosis universalis hereditaria 31 test
  • Dyskeratosis congenita, autosomal dominant 16 tests
  • Dyskeratosis congenita, autosomal dominant 26 tests
  • Dyskeratosis congenita, autosomal dominant 36 tests
  • Dyskeratosis congenita, autosomal dominant 61 test
  • Dyskeratosis congenita, autosomal recessive 13 tests
  • Dyskeratosis congenita, autosomal recessive 23 tests
  • Dyskeratosis congenita, autosomal recessive 33 tests
  • Dyskeratosis congenita, autosomal recessive 55 tests
  • Dyskeratosis congenita, autosomal recessive 64 tests
  • Dyskeratosis congenita, X-linked7 tests
  • Dyskinesia with orofacial involvement, autosomal dominant2 tests
  • Dyslexia, susceptibility to, 13 tests
  • Dystonia 126 tests
  • Dystonia 162 tests
  • Dystonia 241 test
  • Dystonia 251 test
  • Dystonia 272 tests
  • Dystonia 28, childhood-onset1 test
  • Dystonia 56 tests
  • Dystonia 910 tests
  • Early-onset generalized limb-onset dystonia1 test
  • Early-onset myopathy with fatal cardiomyopathy3 tests
  • Early-onset Parkinson disease 203 tests
  • Early-onset parkinsonism-intellectual disability syndrome3 tests
  • Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome2 tests
  • EAST syndrome4 tests
  • Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant1 test
  • Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive1 test
  • Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant1 test
  • Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive1 test
  • Ectodermal dysplasia 9, hair/nail type1 test
  • Ectopia lentis 1, isolated, autosomal dominant7 tests
  • Ectopia lentis 2, isolated, autosomal recessive4 tests
  • Ectopia lentis et pupillae4 tests
  • Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 34 tests
  • Eculizumab, poor response to1 test
  • EEM syndrome3 tests
  • Ehlers-Danlos syndrome progeroid type2 tests
  • Ehlers-Danlos syndrome, arthrochalasia type8 tests
  • Ehlers-Danlos syndrome, cardiac valvular type7 tests
  • Ehlers-Danlos syndrome, classic type, 19 tests
  • Ehlers-Danlos syndrome, dermatosparaxis type2 tests
  • Ehlers-Danlos syndrome, kyphoscoliotic type 13 tests
  • Ehlers-Danlos syndrome, kyphoscoliotic type, 22 tests
  • Ehlers-Danlos syndrome, musculocontractural type 13 tests
  • Ehlers-Danlos syndrome, musculocontractural type 21 test
  • Ehlers-Danlos syndrome, periodontal type 21 test
  • Ehlers-Danlos syndrome, spondylocheirodysplastic type6 tests
  • Ehlers-Danlos syndrome, spondylodysplastic type, 12 tests
  • Ehlers-Danlos syndrome, spondylodysplastic type, 22 tests
  • Ehlers-Danlos syndrome, type 46 tests
  • Eichsfeld type congenital muscular dystrophy2 tests
  • Eiken syndrome4 tests
  • Elevated circulating creatine kinase concentration7 tests
  • Ellis-van Creveld syndrome6 tests
  • Emery-Dreifuss muscular dystrophy 2, autosomal dominant11 tests
  • Emery-Dreifuss muscular dystrophy 3, autosomal recessive11 tests
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant5 tests
  • Emery-Dreifuss muscular dystrophy 5, autosomal dominant1 test
  • Emery-Dreifuss muscular dystrophy 7, autosomal dominant3 tests
  • Encephalocraniocutaneous lipomatosis6 tests
  • Encephalopathy due to GLUT1 deficiency10 tests
  • Encephalopathy, acute, infection-induced, susceptibility to, 47 tests
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 13 tests
  • Encephalopathy, progressive, with amyotrophy and optic atrophy3 tests
  • Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome2 tests
  • Endometrial carcinoma17 tests
  • Enhanced S-cone syndrome3 tests
  • Epidermal nevus23 tests
  • Epidermolysis bullosa pruriginosa2 tests
  • Epidermolysis bullosa simplex 1A, generalized severe3 tests
  • Epidermolysis bullosa simplex 1C, localized3 tests
  • Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive3 tests
  • Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency2 tests
  • Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive1 test
  • Epidermolysis bullosa simplex 5B, with muscular dystrophy4 tests
  • Epidermolysis bullosa simplex 5C, with pyloric atresia4 tests
  • Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss1 test
  • Epidermolysis bullosa simplex 7, with nephropathy and deafness1 test
  • Epidermolysis bullosa simplex due to plakophilin deficiency3 tests
  • Epidermolysis bullosa simplex with migratory circinate erythema2 tests
  • Epidermolysis bullosa simplex with mottled pigmentation2 tests
  • Epidermolysis bullosa simplex with nail dystrophy4 tests
  • Epidermolysis bullosa simplex, Koebner type3 tests
  • Epidermolysis bullosa simplex, Ogna type4 tests
  • Epilepsy, childhood absence, susceptibility to, 53 tests
  • Epilepsy, childhood absence, susceptibility to, 62 tests
  • Epilepsy, familial focal, with variable foci 12 tests
  • Epilepsy, familial temporal lobe, 12 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 115 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 1210 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 133 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 142 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 87 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 94 tests
  • Epilepsy, progressive myoclonic, 1B2 tests
  • Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders4 tests
  • Epiphyseal dysplasia, multiple, 26 tests
  • Epiphyseal dysplasia, multiple, 35 tests
  • Epiphyseal dysplasia, multiple, 66 tests
  • Episodic ataxia type 15 tests
  • Episodic ataxia type 25 tests
  • Episodic ataxia type 54 tests
  • Episodic ataxia type 63 tests
  • Episodic kinesigenic dyskinesia 17 tests
  • Episodic pain syndrome, familial, 22 tests
  • Epithelial basement membrane dystrophy2 tests
  • Epithelial recurrent erosion dystrophy3 tests
  • Erythrokeratodermia variabilis et progressiva 14 tests
  • Erythrokeratodermia variabilis et progressiva 22 tests
  • Erythrokeratodermia variabilis et progressiva 34 tests
  • Essential hypertension4 tests
  • Ethylmalonic encephalopathy4 tests
  • Euthyroid goiter3 tests
  • Exercise-induced hyperinsulinism2 tests
  • Exostoses, multiple, type 22 tests
  • Exudative vitreoretinopathy 13 tests
  • Exudative vitreoretinopathy 2, X-linked4 tests
  • Exudative vitreoretinopathy 48 tests
  • Exudative vitreoretinopathy 52 tests
  • Exudative vitreoretinopathy 63 tests
  • Exudative vitreoretinopathy 73 tests
  • Fabry disease2 tests
  • Facial dysmorphism-immunodeficiency-livedo-short stature syndrome1 test
  • Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome1 test
  • Facioscapulohumeral muscular dystrophy 22 tests
  • Factor 5 and Factor VIII, combined deficiency of, 21 test
  • Factor H deficiency3 tests
  • Factor I deficiency2 tests
  • Factor V and factor VIII, combined deficiency of, type 12 tests
  • Factor V deficiency2 tests
  • Factor VII deficiency2 tests
  • Factor XII deficiency disease2 tests
  • Factor XIII, A subunit, deficiency of2 tests
  • FADD-related immunodeficiency1 test
  • Familial adenomatous polyposis 17 tests
  • Familial adenomatous polyposis 23 tests
  • Familial amyloid nephropathy with urticaria AND deafness1 test
  • Familial amyloid neuropathy1 test
  • Familial apolipoprotein C-II deficiency3 tests
  • Familial atrial myxoma5 tests
  • Familial benign flecked retina3 tests
  • Familial benign pemphigus2 tests
  • Familial cancer of breast24 tests
  • Familial cold autoinflammatory syndrome 11 test
  • Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome6 tests
  • Familial digital arthropathy-brachydactyly6 tests
  • Familial dysfibrinogenemia3 tests
  • Familial encephalopathy with neuroserpin inclusion bodies2 tests
  • Familial expansile osteolysis3 tests
  • Familial gestational hyperthyroidism1 test
  • Familial hemophagocytic lymphohistiocytosis 24 tests
  • Familial hemophagocytic lymphohistiocytosis 32 tests
  • Familial hemophagocytic lymphohistiocytosis 42 tests
  • Familial hemophagocytic lymphohistiocytosis 52 tests
  • Familial hyperaldosteronism type III4 tests
  • Familial hyperthyroidism due to mutations in TSH receptor1 test
  • Familial hypobetalipoproteinemia 15 tests
  • Familial hypobetalipoproteinemia 21 test
  • Familial hypocalciuric hypercalcemia 17 tests
  • Familial hypocalciuric hypercalcemia 23 tests
  • Familial hypocalciuric hypercalcemia 32 tests
  • Familial hypokalemia-hypomagnesemia2 tests
  • Familial idiopathic hypercalciuria1 test
  • Familial infantile myasthenia4 tests
  • Familial infantile myoclonic epilepsy5 tests
  • Familial isolated deficiency of vitamin E4 tests
  • Familial juvenile hyperuricemic nephropathy type 21 test
  • Familial Mediterranean fever1 test
  • Familial Mediterranean fever, autosomal dominant1 test
  • Familial medullary thyroid carcinoma10 tests
  • Familial meningioma18 tests
  • Familial partial lipodystrophy, Dunnigan type11 tests
  • Familial porphyria cutanea tarda2 tests
  • Familial pseudohyperkalemia1 test
  • Familial pulmonary capillary hemangiomatosis2 tests
  • Familial scaphocephaly syndrome, McGillivray type3 tests
  • Familial spontaneous pneumothorax3 tests
  • Familial steroid-resistant nephrotic syndrome with sensorineural deafness1 test
  • Familial temporal lobe epilepsy 74 tests
  • Familial thyroid dyshormonogenesis 11 test
  • Familial type 3 hyperlipoproteinemia6 tests
  • Familial type 5 hyperlipoproteinemia3 tests
  • Familial visceral amyloidosis, Ostertag type5 tests
  • Familial X-linked hypophosphatemic vitamin D refractory rickets5 tests
  • Fanconi anemia complementation group A4 tests
  • Fanconi anemia complementation group B6 tests
  • Fanconi anemia complementation group C5 tests
  • Fanconi anemia complementation group D112 tests
  • Fanconi anemia complementation group D23 tests
  • Fanconi anemia complementation group E3 tests
  • Fanconi anemia complementation group F3 tests
  • Fanconi anemia complementation group G3 tests
  • Fanconi anemia complementation group I3 tests
  • Fanconi anemia complementation group J7 tests
  • Fanconi anemia complementation group L3 tests
  • Fanconi anemia complementation group N8 tests
  • Fanconi anemia complementation group O7 tests
  • Fanconi anemia complementation group P3 tests
  • Fanconi anemia complementation group Q6 tests
  • Fanconi anemia complementation group U4 tests
  • Fanconi renotubular syndrome 22 tests
  • Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young5 tests
  • Fanconi-Bickel syndrome6 tests
  • Farber lipogranulomatosis4 tests
  • Fatal familial insomnia4 tests
  • Fatal infantile hypertonic myofibrillar myopathy3 tests
  • Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 31 test
  • Fatty acyl-CoA reductase 1 deficiency2 tests
  • Febrile seizures, familial, 41 test
  • Febrile seizures, familial, 83 tests
  • Feingold syndrome type 15 tests
  • Fetal akinesia deformation sequence 15 tests
  • FG syndrome 16 tests
  • FG syndrome 212 tests
  • FG syndrome 47 tests
  • Fibrochondrogenesis 110 tests
  • Fibrochondrogenesis 211 tests
  • Fibromatosis, gingival, 14 tests
  • Fibromatosis, gingival, 52 tests
  • Fibrosis of extraocular muscles, congenital, 21 test
  • Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement3 tests
  • Finnish congenital nephrotic syndrome1 test
  • Fish-eye disease2 tests
  • Fleck corneal dystrophy1 test
  • Floating-Harbor syndrome2 tests
  • Focal dermal hypoplasia3 tests
  • Focal facial dermal dysplasia type III1 test
  • Focal segmental glomerulosclerosis 11 test
  • Focal segmental glomerulosclerosis 21 test
  • Focal segmental glomerulosclerosis 3, susceptibility to1 test
  • Focal segmental glomerulosclerosis 4, susceptibility to1 test
  • Focal segmental glomerulosclerosis 51 test
  • Focal segmental glomerulosclerosis 61 test
  • Focal segmental glomerulosclerosis 72 tests
  • Focal segmental glomerulosclerosis 81 test
  • Focal segmental glomerulosclerosis 92 tests
  • Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome1 test
  • Foveal hypoplasia 16 tests
  • Fowler syndrome2 tests
  • Fragile X syndrome4 tests
  • Fragile X-associated tremor/ataxia syndrome4 tests
  • Fraser syndrome 11 test
  • Fraser syndrome 21 test
  • Fraser syndrome 31 test
  • Frasier syndrome7 tests
  • FRAXE1 test
  • Freeman-Sheldon syndrome3 tests
  • Friedreich ataxia 12 tests
  • Frontometaphyseal dysplasia 112 tests
  • Frontonasal dysplasia with alopecia and genital anomaly3 tests
  • Frontorhiny3 tests
  • Frontotemporal dementia4 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 24 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 31 test
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 41 test
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 62 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 73 tests
  • Fructose-biphosphatase deficiency2 tests
  • Fucosidosis1 test
  • Fuhrmann syndrome1 test
  • Fumarase deficiency8 tests
  • Gabriele de Vries syndrome1 test
  • Galactosylceramide beta-galactosidase deficiency4 tests
  • Gallbladder disease 45 tests
  • Galloway-Mowat syndrome 12 tests
  • Gamma-aminobutyric acid transaminase deficiency3 tests
  • GAPO syndrome1 test
  • Gastric cancer16 tests
  • Gastrointestinal stromal tumor6 tests
  • Gaucher disease due to saposin C deficiency3 tests
  • Gaucher disease perinatal lethal2 tests
  • Gaucher disease type I2 tests
  • Gaucher disease type II2 tests
  • Gaucher disease type III2 tests
  • Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome2 tests
  • Gaze palsy, familial horizontal, with progressive scoliosis 11 test
  • Geleophysic dysplasia 13 tests
  • Geleophysic dysplasia 27 tests
  • Generalized dominant dystrophic epidermolysis bullosa2 tests
  • Generalized epilepsy with febrile seizures plus, type 16 tests
  • Generalized epilepsy with febrile seizures plus, type 25 tests
  • Generalized epilepsy with febrile seizures plus, type 72 tests
  • Generalized epilepsy with febrile seizures plus, type 92 tests
  • Generalized juvenile polyposis/juvenile polyposis coli11 tests
  • Genitopatellar syndrome3 tests
  • Germ cell tumor of testis19 tests
  • Geroderma osteodysplastica2 tests
  • Gerstmann-Straussler-Scheinker syndrome4 tests
  • Gilbert syndrome2 tests
  • Gillespie syndrome2 tests
  • Gillessen-Kaesbach-Nishimura syndrome1 test
  • Glanzmann thrombasthenia 13 tests
  • Glaucoma 1, open angle, A1 test
  • Glaucoma 1, open angle, G1 test
  • Glaucoma 3, primary congenital, D4 tests
  • Glaucoma 3, primary congenital, E2 tests
  • Glaucoma 3A1 test
  • Glaucoma, normal tension, susceptibility to11 tests
  • Glioma susceptibility 116 tests
  • Glioma susceptibility 213 tests
  • Glioma susceptibility 312 tests
  • Glioma susceptibility 91 test
  • Glomerulopathy with fibronectin deposits 21 test
  • Glomuvenous malformation1 test
  • Glucocorticoid deficiency 11 test
  • Glucocorticoid deficiency 21 test
  • Glucocorticoid deficiency 41 test
  • Glucocorticoid resistance1 test
  • Glucocorticoid-remediable aldosteronism2 tests
  • Glucose-6-phosphate transport defect5 tests
  • Glutaric aciduria, type 14 tests
  • Glutaryl-CoA oxidase deficiency2 tests
  • Glutathione synthetase deficiency with 5-oxoprolinuria2 tests
  • Glutathione synthetase deficiency without 5-oxoprolinuria2 tests
  • Glycine N-methyltransferase deficiency1 test
  • Glycogen storage disease due to glucose-6-phosphatase deficiency type IA3 tests
  • Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency5 tests
  • Glycogen storage disease due to muscle and heart glycogen synthase deficiency5 tests
  • Glycogen storage disease due to muscle beta-enolase deficiency5 tests
  • Glycogen storage disease due to phosphoglycerate kinase 1 deficiency9 tests
  • Glycogen storage disease IXa15 tests
  • Glycogen storage disease IXb5 tests
  • Glycogen storage disease IXc5 tests
  • Glycogen storage disease IXd5 tests
  • Glycogen storage disease type III5 tests
  • Glycogen storage disease type X5 tests
  • Glycogen storage disease XV5 tests
  • Glycogen storage disease, type II6 tests
  • Glycogen storage disease, type IV8 tests
  • Glycogen storage disease, type V6 tests
  • Glycogen storage disease, type VI4 tests
  • Glycogen storage disease, type VII5 tests
  • Glycogen storage disorder due to hepatic glycogen synthase deficiency3 tests
  • GM1 gangliosidosis type 23 tests
  • GM1 gangliosidosis type 33 tests
  • GM3 synthase deficiency2 tests
  • Gnathodiaphyseal dysplasia3 tests
  • GNE myopathy4 tests
  • GNPTG-mucolipidosis3 tests
  • Goldberg-Shprintzen syndrome2 tests
  • Gonadotropin-independent familial sexual precocity3 tests
  • Gordon syndrome1 test
  • Gorlin syndrome3 tests
  • GRACILE syndrome4 tests
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative1 test
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 11 test
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 21 test
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 31 test
  • Granulomatous disease, chronic, X-linked1 test
  • Gray platelet syndrome3 tests
  • Grebe syndrome6 tests
  • Greenberg dysplasia3 tests
  • Greig cephalopolysyndactyly syndrome6 tests
  • Griscelli syndrome type 12 tests
  • Griscelli syndrome type 22 tests
  • GRN-related frontotemporal lobar degeneration with Tdp43 inclusions4 tests
  • Groenouw corneal dystrophy type I2 tests
  • GTP cyclohydrolase I deficiency6 tests
  • Guttmacher syndrome1 test
  • H syndrome1 test
  • Haim-Munk syndrome4 tests
  • Hair morphology 11 test
  • Hajdu-Cheney syndrome4 tests
  • Hamartoma of hypothalamus6 tests
  • Hand-foot-genital syndrome1 test
  • Harel-Yoon syndrome1 test
  • Hartsfield-Bixler-Demyer syndrome6 tests
  • Hawkinsinuria1 test
  • Hearing loss, autosomal dominant 731 test
  • Hearing loss, autosomal recessive 1061 test
  • Hearing loss, autosomal recessive 1071 test
  • Hearing loss, X-linked 16 tests
  • Hearing loss, X-linked 42 tests
  • Hearing loss, X-linked 62 tests
  • Heart defect - tongue hamartoma - polysyndactyly syndrome6 tests
  • Heart-hand syndrome, Slovenian type11 tests
  • Hecht syndrome2 tests
  • Heimler syndrome 16 tests
  • Heimler syndrome 24 tests
  • Helicoid peripapillary chorioretinal degeneration1 test
  • Hemochromatosis type 13 tests
  • Hemochromatosis type 2B1 test
  • Hemochromatosis type 31 test
  • Hemochromatosis type 41 test
  • Hemolytic anemia due to hexokinase deficiency2 tests
  • Hemolytic uremic syndrome, atypical, susceptibility to, 13 tests
  • Hemorrhage, intracerebral, susceptibility to9 tests
  • Hennekam lymphangiectasia-lymphedema syndrome 11 test
  • Hennekam lymphangiectasia-lymphedema syndrome 22 tests
  • Hepatic adenomas, familial4 tests
  • Hepatocellular carcinoma25 tests
  • Hepatoencephalopathy due to combined oxidative phosphorylation defect type 14 tests
  • Hereditary acrodermatitis enteropathica1 test
  • Hereditary angioedema type 11 test
  • Hereditary angioedema type 32 tests
  • Hereditary antithrombin deficiency1 test
  • Hereditary cerebral amyloid angiopathy, Icelandic type1 test
  • Hereditary coproporphyria1 test
  • Hereditary cryohydrocytosis with reduced stomatin10 tests
  • Hereditary diffuse gastric adenocarcinoma9 tests
  • Hereditary diffuse leukoencephalopathy with spheroids3 tests
  • Hereditary factor IX deficiency disease2 tests
  • Hereditary factor VIII deficiency disease2 tests
  • Hereditary factor X deficiency disease3 tests
  • Hereditary factor XI deficiency disease2 tests
  • Hereditary fructosuria3 tests
  • Hereditary hyperferritinemia with congenital cataracts1 test
  • Hereditary intrinsic factor deficiency1 test
  • Hereditary leiomyomatosis and renal cell cancer8 tests
  • Hereditary lymphedema type I1 test
  • Hereditary motor and sensory neuropathy with optic atrophy5 tests
  • Hereditary myopathy with lactic acidosis due to ISCU deficiency2 tests
  • Hereditary pancreatitis8 tests
  • Hereditary sensory and autonomic neuropathy type 62 tests
  • Hereditary sensory neuropathy-deafness-dementia syndrome2 tests
  • Hereditary spastic paraplegia 102 tests
  • Hereditary spastic paraplegia 112 tests
  • Hereditary spastic paraplegia 134 tests
  • Hereditary spastic paraplegia 155 tests
  • Hereditary spastic paraplegia 177 tests
  • Hereditary spastic paraplegia 25 tests
  • Hereditary spastic paraplegia 231 test
  • Hereditary spastic paraplegia 261 test
  • Hereditary spastic paraplegia 281 test
  • Hereditary spastic paraplegia 303 tests
  • Hereditary spastic paraplegia 313 tests
  • Hereditary spastic paraplegia 356 tests
  • Hereditary spastic paraplegia 396 tests
  • Hereditary spastic paraplegia 3A2 tests
  • Hereditary spastic paraplegia 42 tests
  • Hereditary spastic paraplegia 422 tests
  • Hereditary spastic paraplegia 431 test
  • Hereditary spastic paraplegia 444 tests
  • Hereditary spastic paraplegia 463 tests
  • Hereditary spastic paraplegia 473 tests
  • Hereditary spastic paraplegia 503 tests
  • Hereditary spastic paraplegia 513 tests
  • Hereditary spastic paraplegia 541 test
  • Hereditary spastic paraplegia 554 tests
  • Hereditary spastic paraplegia 563 tests
  • Hereditary spastic paraplegia 5A2 tests
  • Hereditary spastic paraplegia 61 test
  • Hereditary spastic paraplegia 631 test
  • Hereditary spastic paraplegia 77 tests
  • Hereditary spastic paraplegia 743 tests
  • Hereditary spastic paraplegia 775 tests
  • Hereditary spastic paraplegia 83 tests
  • Hereditary spastic paraplegia 9A6 tests
  • Hereditary spherocytosis type 42 tests
  • Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX16 tests
  • Hereditary xanthinuria type 11 test
  • Hermansky-Pudlak syndrome 15 tests
  • Hermansky-Pudlak syndrome 23 tests
  • Hermansky-Pudlak syndrome 33 tests
  • Hermansky-Pudlak syndrome 45 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-linked3 tests
  • Heterotaxy, visceral, 4, autosomal3 tests
  • Heterotaxy, visceral, 5, autosomal4 tests
  • Heterotaxy, visceral, 7, autosomal1 test
  • Heterotaxy, visceral, 8, autosomal1 test
  • Heterotopia, periventricular, X-linked dominant12 tests
  • Hidrotic ectodermal dysplasia syndrome5 tests
  • High density lipoprotein cholesterol level quantitative trait locus 121 test
  • High density lipoprotein cholesterol level quantitative trait locus 61 test
  • High myopia-sensorineural deafness syndrome1 test
  • Hirschsprung disease, susceptibility to, 110 tests
  • Hirschsprung disease, susceptibility to, 21 test
  • Hirschsprung disease, susceptibility to, 42 tests
  • HNSHA due to aldolase A deficiency4 tests
  • Holocarboxylase synthetase deficiency1 test
  • Holoprosencephaly 111 test
  • Holoprosencephaly 21 test
  • Holoprosencephaly 31 test
  • Holoprosencephaly 41 test
  • Holoprosencephaly 51 test
  • Holoprosencephaly 73 tests
  • Holoprosencephaly 93 tests
  • Holt-Oram syndrome5 tests
  • Homocystinuria due to methylene tetrahydrofolate reductase deficiency5 tests
  • HSD10 mitochondrial disease3 tests
  • Human HOXA1 syndromes1 test
  • Huntington disease2 tests
  • Huntington disease-like 14 tests
  • Huppke-Brendel syndrome2 tests
  • Hurler syndrome1 test
  • Hutchinson-Gilford syndrome11 tests
  • Hyaline fibromatosis syndrome1 test
  • Hydrocephalus, nonsyndromic, autosomal recessive 12 tests
  • Hydrocephalus, nonsyndromic, autosomal recessive 22 tests
  • Hydrolethalus syndrome 12 tests
  • Hydrolethalus syndrome 28 tests
  • Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome2 tests
  • Hyper-IgE recurrent infection syndrome 1, autosomal dominant2 tests
  • Hyperaldosteronism, familial, type IV2 tests
  • Hyperalphalipoproteinemia 11 test
  • Hyperammonemia, type III1 test
  • Hypercalcemia, infantile, 11 test
  • Hypercalcemia, infantile, 22 tests
  • Hypercholanemia, familial2 tests
  • Hypercholanemia, familial 12 tests
  • Hypercholesterolemia, autosomal dominant, 35 tests
  • Hypercholesterolemia, autosomal dominant, type B5 tests
  • Hypercholesterolemia, familial, 16 tests
  • Hypercholesterolemia, familial, 44 tests
  • Hyperekplexia 12 tests
  • Hyperekplexia 21 test
  • Hyperekplexia 32 tests
  • Hyperimmunoglobulin D with periodic fever2 tests
  • Hyperinsulinemic hypoglycemia, familial, 14 tests
  • Hyperinsulinemic hypoglycemia, familial, 24 tests
  • Hyperinsulinemic hypoglycemia, familial, 43 tests
  • Hyperinsulinism due to glucokinase deficiency4 tests
  • Hyperinsulinism due to INSR deficiency3 tests
  • Hyperinsulinism-hyperammonemia syndrome4 tests
  • Hyperkalemic periodic paralysis5 tests
  • Hyperlipidemia due to hepatic triglyceride lipase deficiency1 test
  • Hyperlipidemia, familial combined, LPL related2 tests
  • Hyperlipoproteinemia, type 1D3 tests
  • Hyperlipoproteinemia, type I2 tests
  • Hyperlysinemia1 test
  • Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase2 tests
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome5 tests
  • Hyperparathyroidism 15 tests
  • Hyperparathyroidism 2 with jaw tumors5 tests
  • Hyperparathyroidism 41 test
  • Hyperphosphatasemia tarda2 tests
  • Hyperphosphatasemia with bone disease3 tests
  • Hyperphosphatasia with intellectual disability syndrome 11 test
  • Hyperphosphatasia with intellectual disability syndrome 21 test
  • Hyperpigmentation with or without hypopigmentation, familial progressive1 test
  • Hyperproinsulinemia3 tests
  • Hyperthyroxinemia, dystransthyretinemic1 test
  • Hypertrichotic osteochondrodysplasia Cantu type1 test
  • Hypertriglyceridemia 13 tests
  • Hypertrophic cardiomyopathy 18 tests
  • Hypertrophic cardiomyopathy 101 test
  • Hypertrophic cardiomyopathy 112 tests
  • Hypertrophic cardiomyopathy 141 test
  • Hypertrophic cardiomyopathy 181 test
  • Hypertrophic cardiomyopathy 21 test
  • Hypertrophic cardiomyopathy 252 tests
  • Hypertrophic cardiomyopathy 31 test
  • Hypertrophic cardiomyopathy 41 test
  • Hypertrophic cardiomyopathy 64 tests
  • Hypertrophic cardiomyopathy 72 tests
  • Hypertrophic cardiomyopathy 81 test
  • Hypertrophic cardiomyopathy 93 tests
  • Hypertrophic osteoarthropathy, primary, autosomal recessive, 21 test
  • Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome1 test
  • Hypoalphalipoproteinemia, primary, 14 tests
  • Hypochondroplasia8 tests
  • Hypogonadotropic hypogonadism 1 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 11 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 18 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 2 with or without anosmia6 tests
  • Hypogonadotropic hypogonadism 24 without anosmia1 test
  • Hypogonadotropic hypogonadism 3 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 4 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 5 with or without anosmia5 tests
  • Hypogonadotropic hypogonadism 6 with or without anosmia3 tests
  • Hypogonadotropic hypogonadism 7 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 8 with or without anosmia2 tests
  • Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome1 test
  • Hypohidrotic X-linked ectodermal dysplasia1 test
  • Hypoinsulinemic hypoglycemia and body hemihypertrophy2 tests
  • Hypokalemic periodic paralysis, type 12 tests
  • Hypokalemic periodic paralysis, type 25 tests
  • Hypomagnesemia, seizures, and intellectual disability 11 test
  • Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism2 tests
  • Hypomyelinating leukodystrophy 102 tests
  • Hypomyelinating leukodystrophy 112 tests
  • Hypomyelinating leukodystrophy 24 tests
  • Hypomyelinating leukodystrophy 32 tests
  • Hypomyelinating leukodystrophy 44 tests
  • Hypomyelinating leukodystrophy 63 tests
  • Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism2 tests
  • Hypomyelinating leukodystrophy 93 tests
  • Hypomyelination and Congenital Cataract3 tests
  • Hypomyelination with brain stem and spinal cord involvement and leg spasticity3 tests
  • Hypoparathyroidism, deafness, renal disease syndrome1 test
  • Hypoparathyroidism, familial isolated 11 test
  • Hypoparathyroidism-retardation-dysmorphism syndrome3 tests
  • Hypophosphatemic nephrolithiasis/osteoporosis 12 tests
  • Hypophosphatemic nephrolithiasis/osteoporosis 21 test
  • Hypophosphatemic rickets, autosomal recessive, 12 tests
  • Hypophosphatemic rickets, autosomal recessive, 26 tests
  • Hypophosphatemic rickets, X-linked recessive5 tests
  • Hypopigmentation-punctate palmoplantar keratoderma syndrome6 tests
  • Hypoplastic enamel-onycholysis-hypohidrosis syndrome1 test
  • Hypoplastic left heart syndrome 14 tests
  • Hypoplastic left heart syndrome 23 tests
  • Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome4 tests
  • Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration2 tests
  • Hypoproteinemia, hypercatabolic1 test
  • Hypospadias 1, X-linked2 tests
  • Hypospadias 2, X-linked1 test
  • Hypothyroidism due to TSH receptor mutations1 test
  • Hypothyroidism, congenital, nongoitrous, 21 test
  • Hypothyroidism, congenital, nongoitrous, 53 tests
  • Hypotonia, ataxia, and delayed development syndrome1 test
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 11 test
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 22 tests
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 32 tests
  • Hypotrichosis 22 tests
  • Hypotrichosis 41 test
  • Hypotrichosis 61 test
  • Hypotrichosis-lymphedema-telangiectasia syndrome2 tests
  • Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome2 tests
  • Hypouricemia, renal, 21 test
  • Ichthyosis bullosa of Siemens2 tests
  • Ichthyosis hystrix of Curth-Macklin4 tests
  • Ichthyosis prematurity syndrome2 tests
  • Ichthyosis vulgaris2 tests
  • Ichthyosis, hystrix-like, with hearing loss6 tests
  • Idiopathic basal ganglia calcification 13 tests
  • IFAP syndrome 1, with or without BRESHECK syndrome4 tests
  • IMAGe syndrome8 tests
  • Imerslund-Grasbeck syndrome type 11 test
  • Immunodeficiency 232 tests
  • Immunodeficiency 282 tests
  • Immunodeficiency due to ficolin3 deficiency1 test
  • Immunodeficiency due to MASP-2 deficiency1 test
  • Immunodeficiency, common variable, 71 test
  • Immunoglobulin-mediated membranoproliferative glomerulonephritis3 tests
  • Inborn glycerol kinase deficiency1 test
  • Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 31 test
  • Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 12 tests
  • Infantile cerebellar-retinal degeneration6 tests
  • Infantile convulsions and choreoathetosis7 tests
  • Infantile cortical hyperostosis8 tests
  • Infantile GM1 gangliosidosis3 tests
  • Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency3 tests
  • Infantile hypophosphatasia8 tests
  • Infantile liver failure syndrome 21 test
  • Infantile nephronophthisis7 tests
  • Infantile neuroaxonal dystrophy1 test
  • Infantile onset spinocerebellar ataxia4 tests
  • Infantile-onset ascending hereditary spastic paralysis2 tests
  • Infantile-onset generalized dyskinesia with orofacial involvement1 test
  • Infantile-onset X-linked spinal muscular atrophy2 tests
  • Inflammatory bowel disease 11 test
  • Inflammatory bowel disease 131 test
  • Inflammatory skin and bowel disease, neonatal, 21 test
  • Inherited Creutzfeldt-Jakob disease4 tests
  • Insulin-dependent diabetes mellitus secretory diarrhea syndrome2 tests
  • Insulin-resistant diabetes mellitus AND acanthosis nigricans3 tests
  • Intellectual developmental disorder with autism and macrocephaly1 test
  • Intellectual developmental disorder, autosomal recessive 742 tests
  • Intellectual disability, autosomal dominant 14 tests
  • Intellectual disability, autosomal dominant 134 tests
  • Intellectual disability, autosomal dominant 153 tests
  • Intellectual disability, autosomal dominant 162 tests
  • Intellectual disability, autosomal dominant 205 tests
  • Intellectual disability, autosomal dominant 221 test
  • Intellectual disability, autosomal dominant 241 test
  • Intellectual disability, autosomal dominant 341 test
  • Intellectual disability, autosomal dominant 383 tests
  • Intellectual disability, autosomal dominant 411 test
  • Intellectual disability, autosomal dominant 421 test
  • Intellectual disability, autosomal dominant 53 tests
  • Intellectual disability, autosomal dominant 63 tests
  • Intellectual disability, autosomal dominant 82 tests
  • Intellectual disability, autosomal dominant 93 tests
  • Intellectual disability, autosomal recessive 122 tests
  • Intellectual disability, autosomal recessive 32 tests
  • Intellectual disability, autosomal recessive 52 tests
  • Intellectual disability, autosomal recessive 61 test
  • Intellectual disability, autosomal recessive 71 test
  • Intellectual disability, X-linked 14 tests
  • Intellectual disability, X-linked 1021 test
  • Intellectual disability, X-linked 193 tests
  • Intellectual disability, X-linked 211 test
  • Intellectual disability, X-linked 301 test
  • Intellectual disability, X-linked 411 test
  • Intellectual disability, X-linked 461 test
  • Intellectual disability, X-linked 493 tests
  • Intellectual disability, X-linked 581 test
  • Intellectual disability, X-linked 631 test
  • Intellectual disability, X-linked 723 tests
  • Intellectual disability, X-linked 91 test
  • Intellectual disability, X-linked 901 test
  • Intellectual disability, X-linked 932 tests
  • Intellectual disability, X-linked 961 test
  • Intellectual disability, X-linked 971 test
  • Intellectual disability, X-linked 992 tests
  • Intellectual disability, X-linked 99, syndromic, female-restricted2 tests
  • Intellectual disability, X-linked syndromic, Turner type2 tests
  • Intellectual disability, X-linked, syndromic 332 tests
  • Intellectual disability, X-linked, syndromic, 352 tests
  • Intellectual disability, X-linked, with or without seizures, arx-related7 tests
  • Intellectual disability, X-linked, with panhypopituitarism1 test
  • Intellectual disability-epilepsy-extrapyramidal syndrome1 test
  • Intellectual disability-hypotonic facies syndrome, X-linked, 13 tests
  • Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome1 test
  • Intellectual disability-severe speech delay-mild dysmorphism syndrome1 test
  • Interstitial lung disease 22 tests
  • Interstitial lung disease due to ABCA3 deficiency4 tests
  • Intervertebral disc disorder10 tests
  • Intestinal hypomagnesemia 11 test
  • Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked12 tests
  • Iodotyrosyl coupling defect1 test
  • Irido-corneo-trabecular dysgenesis6 tests
  • Ischemic stroke2 tests
  • Isolated congenital megalocornea1 test
  • Isolated focal cortical dysplasia type II13 tests
  • Isolated focal non-epidermolytic palmoplantar keratoderma2 tests
  • Isolated lutropin deficiency1 test
  • Isolated microphthalmia 22 tests
  • Isolated microphthalmia 52 tests
  • Isolated neonatal sclerosing cholangitis5 tests
  • Isolated optic nerve hypoplasia6 tests
  • Isolated thyroid-stimulating hormone deficiency1 test
  • Isovaleryl-CoA dehydrogenase deficiency2 tests
  • Jackson-Weiss syndrome6 tests
  • Jalili syndrome3 tests
  • Jawad syndrome2 tests
  • Jervell and Lange-Nielsen syndrome 17 tests
  • Jervell and Lange-Nielsen syndrome 23 tests
  • Johanson-Blizzard syndrome2 tests
  • Joubert syndrome 17 tests
  • Joubert syndrome 1013 tests
  • Joubert syndrome 136 tests
  • Joubert syndrome 146 tests
  • Joubert syndrome 157 tests
  • Joubert syndrome 166 tests
  • Joubert syndrome 187 tests
  • Joubert syndrome 28 tests
  • Joubert syndrome 207 tests
  • Joubert syndrome 216 tests
  • Joubert syndrome 223 tests
  • Joubert syndrome 233 tests
  • Joubert syndrome 247 tests
  • Joubert syndrome 253 tests
  • Joubert syndrome 262 tests
  • Joubert syndrome 275 tests
  • Joubert syndrome 2811 tests
  • Joubert syndrome 37 tests
  • Joubert syndrome 303 tests
  • Joubert syndrome 512 tests
  • Joubert syndrome 69 tests
  • Joubert syndrome 78 tests
  • Joubert syndrome 86 tests
  • Joubert syndrome 97 tests
  • Joubert syndrome with renal defect9 tests
  • Junctional epidermolysis bullosa gravis of Herlitz3 tests
  • Junctional epidermolysis bullosa with pyloric atresia2 tests
  • Junctional epidermolysis bullosa, non-Herlitz type4 tests
  • Juvenile cataract-microcornea-renal glucosuria syndrome1 test
  • Juvenile myelomonocytic leukemia15 tests
  • Juvenile nephropathic cystinosis1 test
  • Juvenile onset Parkinson disease 19A1 test
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome11 tests
  • Juvenile primary lateral sclerosis2 tests
  • Juvenile retinoschisis5 tests
  • Kabuki syndrome 12 tests
  • Kabuki syndrome 22 tests
  • Kahrizi syndrome1 test
  • Kartagener syndrome6 tests
  • Karyomegalic interstitial nephritis1 test
  • Kennedy disease2 tests
  • Keratosis follicularis spinulosa decalvans, X-linked4 tests
  • Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome1 test
  • Keratosis palmoplantaris striata 26 tests
  • Keratosis palmoplantaris striata 34 tests
  • Ketoacidosis due to monocarboxylate transporter-1 deficiency2 tests
  • Keutel syndrome1 test
  • Kindler syndrome2 tests
  • Kleefstra syndrome 11 test
  • Kniest dysplasia12 tests
  • Knobloch syndrome4 tests
  • Knuckle pads, deafness AND leukonychia syndrome6 tests
  • Koolen-de Vries syndrome1 test
  • Kostmann syndrome2 tests
  • Krabbe disease due to saposin A deficiency3 tests
  • Kufor-Rakeb syndrome4 tests
  • Kugelberg-Welander disease1 test
  • Kuru, susceptibility to4 tests
  • L-2-hydroxyglutaric aciduria6 tests
  • L-ferritin deficiency1 test
  • Lafora disease4 tests
  • LAMB2-related infantile-onset nephrotic syndrome2 tests
  • Landau-Kleffner syndrome4 tests
  • Langer mesomelic dysplasia syndrome2 tests
  • Langereis blood group1 test
  • Large congenital melanocytic nevus10 tests
  • Laron-type isolated somatotropin defect1 test
  • Larsen syndrome4 tests
  • Larsen-like syndrome, B3GAT3 type2 tests
  • Laryngo-onycho-cutaneous syndrome2 tests
  • Late-onset retinal degeneration3 tests
  • Lateral meningocele syndrome4 tests
  • Lattice corneal dystrophy Type I2 tests
  • Lattice corneal dystrophy Type III2 tests
  • Laurence-Moon syndrome6 tests
  • Leber congenital amaurosis 14 tests
  • Leber congenital amaurosis 1012 tests
  • Leber congenital amaurosis 113 tests
  • Leber congenital amaurosis 122 tests
  • Leber congenital amaurosis 134 tests
  • Leber congenital amaurosis 143 tests
  • Leber congenital amaurosis 153 tests
  • Leber congenital amaurosis 163 tests
  • Leber congenital amaurosis 24 tests
  • Leber congenital amaurosis 33 tests
  • Leber congenital amaurosis 44 tests
  • Leber congenital amaurosis 53 tests
  • Leber congenital amaurosis 64 tests
  • Leber congenital amaurosis 75 tests
  • Leber congenital amaurosis 85 tests
  • Leber congenital amaurosis 93 tests
  • Left ventricular noncompaction 101 test
  • Legg-Calve-Perthes disease12 tests
  • Legius syndrome2 tests
  • Leigh syndrome12 tests
  • Lenz-Majewski hyperostosis syndrome3 tests
  • LEOPARD syndrome 16 tests
  • LEOPARD syndrome 23 tests
  • LEOPARD syndrome 35 tests
  • Leprechaunism syndrome3 tests
  • Leprosy, susceptibility to, 21 test
  • Leri-Weill dyschondrosteosis2 tests
  • Lesch-Nyhan syndrome2 tests
  • Lethal acantholytic epidermolysis bullosa6 tests
  • Lethal arthrogryposis-anterior horn cell disease syndrome2 tests
  • Lethal congenital contracture syndrome 12 tests
  • Lethal congenital contracture syndrome 21 test
  • Lethal congenital contracture syndrome 42 tests
  • Lethal congenital contracture syndrome 61 test
  • Lethal congenital contracture syndrome 71 test
  • Lethal congenital contracture syndrome 91 test
  • Lethal congenital glycogen storage disease of heart4 tests
  • Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome2 tests
  • Lethal Kniest-like syndrome4 tests
  • Lethal multiple pterygium syndrome5 tests
  • Lethal osteosclerotic bone dysplasia2 tests
  • Lethal tight skin contracture syndrome11 tests
  • Leucine-induced hypoglycemia4 tests
  • Leukemia, acute lymphoblastic, susceptibility to, 33 tests
  • Leukocyte adhesion deficiency type II1 test
  • Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome2 tests
  • Leukoencephalopathy with calcifications and cysts2 tests
  • Leukoencephalopathy with mild cerebellar ataxia and white matter edema5 tests
  • Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome2 tests
  • Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome3 tests
  • Levy-Hollister syndrome9 tests
  • Lewy body dementia6 tests
  • Leydig cell agenesis3 tests
  • Li-Fraumeni syndrome 114 tests
  • Li-Fraumeni syndrome 24 tests
  • Liddle syndrome 14 tests
  • Limb-mammary syndrome4 tests
  • Linear nevus sebaceous syndrome10 tests
  • Linear skin defects with multiple congenital anomalies 11 test
  • Lipase deficiency, combined3 tests
  • LIPE-related familial partial lipodystrophy1 test
  • Lipid proteinosis1 test
  • Lipoic acid synthetase deficiency1 test
  • Lipoprotein glomerulopathy6 tests
  • Lipoyl transferase 1 deficiency2 tests
  • Lissencephaly 43 tests
  • Lissencephaly 6 with microcephaly3 tests
  • Lissencephaly due to LIS1 mutation4 tests
  • Lissencephaly due to TUBA1A mutation4 tests
  • Lissencephaly type 1 due to doublecortin gene mutation6 tests
  • Loeys-Dietz syndrome 16 tests
  • Loeys-Dietz syndrome 26 tests
  • Loeys-Dietz syndrome 43 tests
  • Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency5 tests
  • Long QT syndrome 17 tests
  • Long QT syndrome 112 tests
  • Long QT syndrome 134 tests
  • Long QT syndrome 143 tests
  • Long QT syndrome 153 tests
  • Long QT syndrome 26 tests
  • Long QT syndrome 35 tests
  • Long QT syndrome 53 tests
  • Long QT syndrome 63 tests
  • Long QT syndrome 97 tests
  • Lopes-Maciel-Rodan syndrome2 tests
  • Loricrin keratoderma2 tests
  • Low phospholipid associated cholelithiasis1 test
  • Lowe syndrome3 tests
  • Lower motor neuron syndrome with late-adult onset4 tests
  • Lucey-Driscoll syndrome2 tests
  • Lung cancer17 tests
  • Luscan-Lumish syndrome1 test
  • Lymphangiomyomatosis12 tests
  • Lymphatic malformation 34 tests
  • Lymphatic malformation 61 test
  • Lymphoma, non-Hodgkin, familial4 tests
  • Lymphoproliferative syndrome 12 tests
  • Lynch syndrome 113 tests
  • Lynch syndrome 413 tests
  • Lynch syndrome 513 tests
  • Lynch syndrome 810 tests
  • Lysinuric protein intolerance3 tests
  • Lysosomal acid lipase deficiency6 tests
  • Macrocephaly-autism syndrome13 tests
  • Macrocephaly-developmental delay syndrome1 test
  • Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome2 tests
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss6 tests
  • Macrothrombocytopenia, isolated, 1, autosomal dominant2 tests
  • Macular corneal dystrophy1 test
  • Macular degeneration, age-related, 36 tests
  • Macular degeneration, early-onset5 tests
  • Macular degeneration, X-linked atrophic5 tests
  • Macular dystrophy with central cone involvement5 tests
  • Malan overgrowth syndrome3 tests
  • Malaria, susceptibility to3 tests
  • Malignant hyperthermia, susceptibility to, 14 tests
  • Malignant hyperthermia, susceptibility to, 52 tests
  • Malignant tumor of esophagus10 tests
  • Malignant tumor of prostate23 tests
  • Malignant tumor of urinary bladder19 tests
  • Mandibular hypoplasia-deafness-progeroid syndrome1 test
  • Mandibuloacral dysplasia with type A lipodystrophy11 tests
  • Mandibuloacral dysplasia with type B lipodystrophy3 tests
  • Mandibulofacial dysostosis-microcephaly syndrome6 tests
  • Maple syrup urine disease2 tests
  • Marden-Walker syndrome1 test
  • Marfan syndrome7 tests
  • Marinesco-Sjögren syndrome3 tests
  • Marshall syndrome10 tests
  • Marshall-Smith syndrome3 tests
  • Martsolf syndrome1 test
  • MASA syndrome4 tests
  • MASS syndrome7 tests
  • Mastocytosis2 tests
  • Maturity-onset diabetes of the young type 15 tests
  • Maturity-onset diabetes of the young type 103 tests
  • Maturity-onset diabetes of the young type 113 tests
  • Maturity-onset diabetes of the young type 134 tests
  • Maturity-onset diabetes of the young type 24 tests
  • Maturity-onset diabetes of the young type 34 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 93 tests
  • McCune-Albright syndrome5 tests
  • McKusick-Kaufman syndrome7 tests
  • Meacham syndrome7 tests
  • Meckel syndrome 134 tests
  • Meckel syndrome, type 111 tests
  • Meckel syndrome, type 105 tests
  • Meckel syndrome, type 117 tests
  • Meckel syndrome, type 28 tests
  • Meckel syndrome, type 39 tests
  • Meckel syndrome, type 412 tests
  • Meckel syndrome, type 58 tests
  • Meckel syndrome, type 67 tests
  • Meckel syndrome, type 87 tests
  • Meckel syndrome, type 95 tests
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency4 tests
  • MEDNIK syndrome1 test
  • Medulloblastoma16 tests
  • Meester-Loeys syndrome4 tests
  • Megaconial type congenital muscular dystrophy1 test
  • Megalencephalic leukoencephalopathy with subcortical cysts 13 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 2A4 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability4 tests
  • Megalencephaly-capillary malformation-polymicrogyria syndrome5 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 12 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 24 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 31 test
  • MEGF10-related myopathy2 tests
  • MEGF8-related Carpenter syndrome2 tests
  • Meier-Gorlin syndrome 13 tests
  • Meier-Gorlin syndrome 23 tests
  • Meier-Gorlin syndrome 33 tests
  • Meier-Gorlin syndrome 43 tests
  • Meier-Gorlin syndrome 53 tests
  • Meier-Gorlin syndrome 73 tests
  • Melanoma and neural system tumor syndrome4 tests
  • Melanoma, cutaneous malignant, susceptibility to, 113 tests
  • Melanoma, cutaneous malignant, susceptibility to, 24 tests
  • Melanoma, cutaneous malignant, susceptibility to, 31 test
  • Melanoma, cutaneous malignant, susceptibility to, 96 tests
  • Melanoma-pancreatic cancer syndrome4 tests
  • Melnick-Needles syndrome12 tests
  • MEND syndrome4 tests
  • Menkes kinky-hair syndrome5 tests
  • Meretoja syndrome2 tests
  • Merosin deficient congenital muscular dystrophy5 tests
  • Mesoaxial synostotic syndactyly with phalangeal reduction1 test
  • Mesothelioma, malignant7 tests
  • Metabolic myopathy due to lactate transporter defect2 tests
  • Metabolic syndrome X4 tests
  • Metachondromatosis6 tests
  • Metachromatic leukodystrophy3 tests
  • Metaphyseal anadysplasia 23 tests
  • Metaphyseal chondrodysplasia, Jansen type4 tests
  • Metaphyseal chondrodysplasia, McKusick type4 tests
  • Metaphyseal chondrodysplasia, Schmid type3 tests
  • Metaphyseal chondrodysplasia, Spahr type3 tests
  • Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome3 tests
  • Metaphyseal dysplasia without hypotrichosis4 tests
  • Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome3 tests
  • Metatropic dysplasia6 tests
  • Methylcobalamin deficiency type cblE2 tests
  • Methylcobalamin deficiency type cblG2 tests
  • Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency1 test
  • Methylmalonic acidemia due to transcobalamin receptor defect1 test
  • Methylmalonic acidemia with homocystinuria, type cblJ1 test
  • Methylmalonic acidemia with homocystinuria, type cblX2 tests
  • Methylmalonic aciduria and homocystinuria type cblD2 tests
  • Methylmalonic aciduria and homocystinuria type cblF1 test
  • Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency2 tests
  • Methylmalonic aciduria, cblA type2 tests
  • Methylmalonic aciduria, cblB type2 tests
  • Mevalonic aciduria2 tests
  • MGAT2-congenital disorder of glycosylation1 test
  • Microcephalic osteodysplastic primordial dwarfism type II4 tests
  • Microcephalic primordial dwarfism due to RTTN deficiency3 tests
  • Microcephalic primordial dwarfism, Alazami type1 test
  • Microcephaly 1, primary, autosomal recessive1 test
  • Microcephaly 15, primary, autosomal recessive1 test
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations4 tests
  • Microcephaly 3, primary, autosomal recessive1 test
  • Microcephaly 5, primary, autosomal recessive1 test
  • Microcephaly 6, primary, autosomal recessive3 tests
  • Microcephaly 7, primary, autosomal recessive1 test
  • Microcephaly 9, primary, autosomal recessive3 tests
  • Microcephaly and chorioretinopathy 11 test
  • Microcephaly and chorioretinopathy 21 test
  • Microcephaly and chorioretinopathy 31 test
  • Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability4 tests
  • Microcephaly, epilepsy, and diabetes syndrome1 test
  • Microcephaly, normal intelligence and immunodeficiency5 tests
  • Microcephaly, seizures, and developmental delay5 tests
  • Microcephaly-capillary malformation syndrome2 tests
  • Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome1 test
  • Microcornea-myopic chorioretinal atrophy3 tests
  • Microphthalmia with brain and digit anomalies3 tests
  • Microphthalmia, isolated, with coloboma 102 tests
  • Microphthalmia, isolated, with coloboma 32 tests
  • Microphthalmia, isolated, with coloboma 51 test
  • Microphthalmia, isolated, with coloboma 71 test
  • Microspherophakia4 tests
  • Microvascular complications of diabetes, susceptibility to, 31 test
  • Microvascular complications of diabetes, susceptibility to, 72 tests
  • Migraine, familial hemiplegic, 15 tests
  • Migraine, familial hemiplegic, 21 test
  • Migraine, familial hemiplegic, 35 tests
  • Migraine, with or without aura, susceptibility to, 131 test
  • Miller syndrome4 tests
  • MIRAGE syndrome1 test
  • Mismatch repair cancer syndrome 113 tests
  • Mitochondrial complex I deficiency, nuclear type 111 tests
  • Mitochondrial complex II deficiency, nuclear type 18 tests
  • Mitochondrial complex III deficiency nuclear type 14 tests
  • Mitochondrial complex III deficiency nuclear type 26 tests
  • Mitochondrial complex III deficiency nuclear type 41 test
  • Mitochondrial complex III deficiency nuclear type 83 tests
  • Mitochondrial complex IV deficiency, nuclear type 16 tests
  • Mitochondrial complex V (ATP synthase) deficiency nuclear type 22 tests
  • Mitochondrial DNA depletion syndrome 14 tests
  • Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant3 tests
  • Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive3 tests
  • Mitochondrial DNA depletion syndrome 134 tests
  • Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)10 tests
  • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)2 tests
  • Mitochondrial DNA depletion syndrome 4b15 tests
  • Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)2 tests
  • Mitochondrial DNA depletion syndrome 8a3 tests
  • Mitochondrial DNA depletion syndrome 94 tests
  • Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria4 tests
  • Mitochondrial DNA depletion syndrome, myopathic form5 tests
  • Mitochondrial myopathy-lactic acidosis-deafness syndrome1 test
  • Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency4 tests
  • Mitochondrial trifunctional protein deficiency5 tests
  • Miyoshi muscular dystrophy 13 tests
  • Miyoshi muscular dystrophy 33 tests
  • MOGS-congenital disorder of glycosylation1 test
  • Monocytopenia with susceptibility to infections5 tests
  • MORM syndrome7 tests
  • Mosaic variegated aneuploidy syndrome 12 tests
  • Mowat-Wilson syndrome5 tests
  • Moyamoya disease 53 tests
  • MPDU1-congenital disorder of glycosylation1 test
  • MPI-congenital disorder of glycosylation2 tests
  • Mucolipidosis type II1 test
  • Mucolipidosis type IV1 test
  • Mucopolysaccharidosis type 61 test
  • Mucopolysaccharidosis type 71 test
  • Mucopolysaccharidosis, MPS-I-H/S1 test
  • Mucopolysaccharidosis, MPS-I-S1 test
  • Mucopolysaccharidosis, MPS-II2 tests
  • Mucopolysaccharidosis, MPS-III-A1 test
  • Mucopolysaccharidosis, MPS-III-B1 test
  • Mucopolysaccharidosis, MPS-III-C3 tests
  • Mucopolysaccharidosis, MPS-III-D1 test
  • Mucopolysaccharidosis, MPS-IV-A1 test
  • Mucopolysaccharidosis, MPS-IV-B3 tests
  • Muenke syndrome8 tests
  • Muir-Torré syndrome13 tests
  • Mulibrey nanism syndrome2 tests
  • Multicentric carpo-tarsal osteolysis with or without nephropathy1 test
  • Multiple acyl-CoA dehydrogenase deficiency9 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 11 test
  • Multiple congenital anomalies-hypotonia-seizures syndrome 24 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 31 test
  • Multiple congenital exostosis3 tests
  • Multiple cutaneous and mucosal venous malformations2 tests
  • Multiple endocrine neoplasia type 2A10 tests
  • Multiple endocrine neoplasia type 2B10 tests
  • Multiple endocrine neoplasia type 43 tests
  • Multiple endocrine neoplasia, type 16 tests
  • Multiple epiphyseal dysplasia type 11 test
  • Multiple epiphyseal dysplasia type 42 tests
  • Multiple epiphyseal dysplasia type 52 tests
  • Multiple epiphyseal dysplasia, Al-Gazali type8 tests
  • Multiple epiphyseal dysplasia, Beighton type12 tests
  • Multiple gastrointestinal atresias1 test
  • Multiple mitochondrial dysfunctions syndrome 14 tests
  • Multiple mitochondrial dysfunctions syndrome 21 test
  • Multiple mitochondrial dysfunctions syndrome 33 tests
  • Multiple myeloma1 test
  • Multiple sclerosis, susceptibility to, 51 test
  • Multiple self-healing squamous epithelioma6 tests
  • Multiple sulfatase deficiency4 tests
  • Multiple synostoses syndrome 26 tests
  • Multiple system atrophy5 tests
  • Multisystemic smooth muscle dysfunction syndrome3 tests
  • Muscle AMP deaminase deficiency3 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 113 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 47 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 73 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 84 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A16 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A143 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A21 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A31 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A54 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A63 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B16 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B143 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B21 test
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B31 test
  • Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B47 tests
  • Muscular dystrophy-dystroglycanopathy type B54 tests
  • Muscular dystrophy-dystroglycanopathy type B63 tests
  • Mutilating keratoderma6 tests
  • Myasthenic syndrome, congenital, 1B, fast-channel5 tests
  • Mycobacterium tuberculosis, susceptibility to1 test
  • Myelodysplastic syndrome6 tests
  • Myeloperoxidase deficiency2 tests
  • Myeloproliferative disorder, chronic, with eosinophilia2 tests
  • MYH7-related skeletal myopathy3 tests
  • Myhre syndrome11 tests
  • Myocardial infarction 14 tests
  • Myoclonic dystonia 112 tests
  • Myoclonic epilepsy, juvenile, susceptibility to, 12 tests
  • Myoclonic-astatic epilepsy2 tests
  • Myoclonus, familial, 12 tests
  • Myoclonus, intractable, neonatal2 tests
  • Myofibrillar myopathy 23 tests
  • Myofibrillar myopathy 34 tests
  • Myofibrillar myopathy 43 tests
  • Myofibrillar myopathy 61 test
  • Myofibromatosis, infantile, 12 tests
  • Myofibromatosis, infantile, 24 tests
  • Myoglobinuria, acute recurrent, autosomal recessive3 tests
  • Myopathy due to calsequestrin and SERCA1 protein overload1 test
  • Myopathy with abnormal lipid metabolism4 tests
  • Myopathy, centronuclear, 21 test
  • Myopathy, centronuclear, 52 tests
  • Myopathy, distal, with rimmed vacuoles1 test
  • Myopathy, lactic acidosis, and sideroblastic anemia 11 test
  • Myopathy, lactic acidosis, and sideroblastic anemia 21 test
  • Myopathy, myofibrillar, 9, with early respiratory failure3 tests
  • Myopathy, myosin storage, autosomal recessive3 tests
  • Myopathy, proximal, and ophthalmoplegia1 test
  • Myopathy, reducing body, X-linked, childhood-onset2 tests
  • Myopathy, reducing body, X-linked, early-onset, severe2 tests
  • Myopathy, tubular aggregate, 11 test
  • Myopia 63 tests
  • Myopia, high, with cataract and vitreoretinal degeneration3 tests
  • Myosclerosis3 tests
  • Myosin storage myopathy3 tests
  • Naegeli-Franceschetti-Jadassohn syndrome3 tests
  • Nager syndrome4 tests
  • Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome2 tests
  • Nail-patella syndrome3 tests
  • Namaqualand hip dysplasia12 tests
  • Nance-Horan syndrome2 tests
  • Nanophthalmos 22 tests
  • Nasopharyngeal carcinoma19 tests
  • Naxos disease4 tests
  • NDE1-related microhydranencephaly3 tests
  • Nemaline myopathy 101 test
  • Nemaline myopathy 22 tests
  • Nemaline myopathy 52 tests
  • Nemaline myopathy 61 test
  • Nemaline myopathy 72 tests
  • Nemaline myopathy 83 tests
  • Nemaline myopathy 91 test
  • Neonatal diabetes mellitus with congenital hypothyroidism2 tests
  • Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome1 test
  • Neonatal intrahepatic cholestasis due to citrin deficiency2 tests
  • Neonatal severe primary hyperparathyroidism7 tests
  • Neonatal-onset encephalopathy with rigidity and seizures3 tests
  • Neoplasm of ovary14 tests
  • Nephrogenic syndrome of inappropriate antidiuresis1 test
  • Nephronophthisis 19 tests
  • Nephronophthisis 119 tests
  • Nephronophthisis 129 tests
  • Nephronophthisis 1310 tests
  • Nephronophthisis 147 tests
  • Nephronophthisis 155 tests
  • Nephronophthisis 164 tests
  • Nephronophthisis 182 tests
  • Nephronophthisis 195 tests
  • Nephronophthisis 202 tests
  • Nephronophthisis 38 tests
  • Nephronophthisis 46 tests
  • Nephronophthisis 73 tests
  • Nephronophthisis 93 tests
  • Nephropathic cystinosis1 test
  • Nephrotic syndrome 141 test
  • Nephrotic syndrome 152 tests
  • Nephrotic syndrome, type 101 test
  • Nephrotic syndrome, type 111 test
  • Nephrotic syndrome, type 21 test
  • Nephrotic syndrome, type 31 test
  • Nephrotic syndrome, type 47 tests
  • Nephrotic syndrome, type 61 test
  • Nephrotic syndrome, type 81 test
  • Nephrotic syndrome, type 91 test
  • Netherton syndrome1 test
  • Neu-Laxova syndrome 12 tests
  • Neural tube defects, folate-sensitive5 tests
  • Neuroblastoma, susceptibility to, 12 tests
  • Neuroblastoma, susceptibility to, 23 tests
  • Neuroblastoma, susceptibility to, 31 test
  • Neurocutaneous melanocytosis6 tests
  • Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset1 test
  • Neurodegeneration with brain iron accumulation 2B1 test
  • Neurodegeneration with brain iron accumulation 41 test
  • Neurodegeneration with brain iron accumulation 53 tests
  • Neurodegeneration with brain iron accumulation 63 tests
  • Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination2 tests
  • Neurodevelopmental disorder with hypotonia, seizures, and absent language2 tests
  • Neurodevelopmental disorder with involuntary movements2 tests
  • Neuroferritinopathy1 test
  • Neurofibromatosis, familial spinal14 tests
  • Neurofibromatosis, type 114 tests
  • Neurofibromatosis, type 24 tests
  • Neurofibromatosis-Noonan syndrome14 tests
  • Neurogenic scapuloperoneal syndrome, Kaeser type3 tests
  • Neurohypophyseal diabetes insipidus1 test
  • Neuronal ceroid lipofuscinosis 13 tests
  • Neuronal ceroid lipofuscinosis 103 tests
  • Neuronal ceroid lipofuscinosis 114 tests
  • Neuronal ceroid lipofuscinosis 132 tests
  • Neuronal ceroid lipofuscinosis 25 tests
  • Neuronal ceroid lipofuscinosis 36 tests
  • Neuronal ceroid lipofuscinosis 55 tests
  • Neuronal ceroid lipofuscinosis 75 tests
  • Neuronal ceroid lipofuscinosis 83 tests
  • Neuronal ceroid lipofuscinosis 8 northern epilepsy variant3 tests
  • Neuronopathy, distal hereditary motor, autosomal dominant 86 tests
  • Neuronopathy, distal hereditary motor, autosomal recessive 41 test
  • Neuronopathy, distal hereditary motor, autosomal recessive 52 tests
  • Neuronopathy, distal hereditary motor, type 2A2 tests
  • Neuronopathy, distal hereditary motor, type 2B2 tests
  • Neuronopathy, distal hereditary motor, type 2C2 tests
  • Neuronopathy, distal hereditary motor, type 2D2 tests
  • Neuronopathy, distal hereditary motor, type 5A7 tests
  • Neuronopathy, distal hereditary motor, type 5B3 tests
  • Neuronopathy, distal hereditary motor, type 7A1 test
  • Neuronopathy, distal hereditary motor, type 7B3 tests
  • Neuropathy, hereditary motor and sensory, type 6B4 tests
  • Neuropathy, hereditary sensory and autonomic, type 2A1 test
  • Neuropathy, hereditary sensory, type 1D2 tests
  • Neuropathy, hereditary sensory, type 2C3 tests
  • Neutral lipid storage myopathy4 tests
  • Neutropenia, severe congenital, 1, autosomal dominant2 tests
  • Neutropenia, severe congenital, 2, autosomal dominant2 tests
  • Neutrophil immunodeficiency syndrome2 tests
  • Newfoundland cone-rod dystrophy5 tests
  • Niemann-Pick disease, type A5 tests
  • Niemann-Pick disease, type B5 tests
  • Niemann-Pick disease, type C15 tests
  • Niemann-Pick disease, type C25 tests
  • Non-ketotic hyperglycinemia7 tests
  • Nonarteritic anterior ischemic optic neuropathy, susceptibility to3 tests
  • Nonimmune chronic idiopathic neutropenia of adults2 tests
  • Nonpapillary renal cell carcinoma14 tests
  • Nonsyndromic congenital nail disorder 82 tests
  • Noonan syndrome 16 tests
  • Noonan syndrome 102 tests
  • Noonan syndrome 34 tests
  • Noonan syndrome 44 tests
  • Noonan syndrome 53 tests
  • Noonan syndrome 66 tests
  • Noonan syndrome 75 tests
  • Noonan syndrome 84 tests
  • Noonan syndrome 93 tests
  • Noonan syndrome-like disorder with loose anagen hair 12 tests
  • Noonan syndrome-like disorder with loose anagen hair 22 tests
  • Norman-Roberts syndrome4 tests
  • Normophosphatemic familial tumoral calcinosis1 test
  • Norum disease2 tests
  • NPHP3-related Meckel-like syndrome8 tests
  • Nystagmus 1, congenital, X-linked2 tests
  • Nystagmus 6, congenital, X-linked1 test
  • Obesity12 tests
  • OBESITY (BMIQ9), SUSCEPTIBILITY TO1 test
  • Obesity due to congenital leptin deficiency2 tests
  • Obesity due to leptin receptor gene deficiency1 test
  • Obesity due to pro-opiomelanocortin deficiency2 tests
  • Obesity due to prohormone convertase I deficiency1 test
  • Obesity, hyperphagia, and developmental delay1 test
  • Occipital pachygyria and polymicrogyria2 tests
  • Occult macular dystrophy2 tests
  • Ocular albinism, type I1 test
  • Ocular albinism, type II3 tests
  • Ocular cystinosis1 test
  • Oculoauricular syndrome1 test
  • Oculodentodigital dysplasia4 tests
  • Oculodentodigital dysplasia, autosomal recessive4 tests
  • Oculofaciocardiodental syndrome5 tests
  • Oculootoradial syndrome4 tests
  • Oculopharyngeal muscular dystrophy1 test
  • Oculotrichoanal syndrome3 tests
  • Odonto-onycho-dermal dysplasia2 tests
  • Oguchi disease-13 tests
  • Oguchi disease-21 test
  • Oligodontia-cancer predisposition syndrome1 test
  • Olmsted syndrome 12 tests
  • Olmsted syndrome, X-linked4 tests
  • Opsismodysplasia4 tests
  • Optic atrophy 10 with or without ataxia, intellectual disability, and seizures3 tests
  • Optic atrophy 38 tests
  • Optic atrophy 96 tests
  • Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy10 tests
  • Ornithine aminotransferase deficiency3 tests
  • Ornithine carbamoyltransferase deficiency2 tests
  • Orofacial cleft 113 tests
  • Orofacial cleft 51 test
  • Orofacial cleft 6, susceptibility to4 tests
  • Orofacial-digital syndrome IV7 tests
  • Orofaciodigital syndrome 164 tests
  • Orofaciodigital syndrome I13 tests
  • Orofaciodigital syndrome type 141 test
  • Orofaciodigital syndrome V1 test
  • Orofaciodigital syndrome XV2 tests
  • Orotic aciduria2 tests
  • Orthostatic hypotension 11 test
  • Osteoarthritis susceptibility 22 tests
  • Osteoarthritis susceptibility 56 tests
  • Osteochondritis dissecans2 tests
  • Osteocraniostenosis1 test
  • Osteodysplastic primordial dwarfism, type 12 tests
  • Osteofibrous dysplasia4 tests
  • Osteogenesis imperfecta type 103 tests
  • Osteogenesis imperfecta type 115 tests
  • Osteogenesis imperfecta type 122 tests
  • Osteogenesis imperfecta type 133 tests
  • Osteogenesis imperfecta type 142 tests
  • Osteogenesis imperfecta type 152 tests
  • Osteogenesis imperfecta type 171 test
  • Osteogenesis imperfecta type 52 tests
  • Osteogenesis imperfecta type 64 tests
  • Osteogenesis imperfecta type 74 tests
  • Osteogenesis imperfecta type 83 tests
  • Osteogenesis imperfecta type 94 tests
  • Osteogenesis imperfecta type I8 tests
  • Osteogenesis imperfecta type III8 tests
  • Osteogenesis imperfecta with normal sclerae, dominant form8 tests
  • Osteogenesis imperfecta, perinatal lethal8 tests
  • Osteoglophonic dysplasia6 tests
  • Osteopathia striata with cranial sclerosis1 test
  • Osteopetrosis with renal tubular acidosis4 tests
  • Osteoporosis with pseudoglioma8 tests
  • OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO2 tests
  • Oto-palato-digital syndrome, type I12 tests
  • Oto-palato-digital syndrome, type II12 tests
  • Otofaciocervical syndrome 14 tests
  • Otospondylomegaepiphyseal dysplasia, autosomal dominant11 tests
  • Otospondylomegaepiphyseal dysplasia, autosomal recessive11 tests
  • Ovarian dysgenesis 12 tests
  • Ovarian dysgenesis 21 test
  • Ovarian hyperstimulation syndrome2 tests
  • Pachyonychia congenita 12 tests
  • Pachyonychia congenita 22 tests
  • Pachyonychia congenita 32 tests
  • Pachyonychia congenita 42 tests
  • Paget disease of bone 2, early-onset3 tests
  • Paget disease of bone 31 test
  • Pallister-Hall syndrome6 tests
  • Palmoplantar keratoderma i, striate, focal, or diffuse2 tests
  • Palmoplantar keratoderma, Bothnian type1 test
  • Palmoplantar keratoderma, epidermolytic4 tests
  • Palmoplantar keratoderma, Nagashima type1 test
  • Palmoplantar keratoderma, nonepidermolytic, focal 12 tests
  • Palmoplantar keratoderma, nonepidermolytic, focal or diffuse2 tests
  • Palmoplantar keratoderma, punctate type 1A2 tests
  • Palmoplantar keratoderma-deafness syndrome6 tests
  • Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome1 test
  • Pancreatic agenesis 13 tests
  • Pancreatic agenesis 24 tests
  • Pancreatic cancer, susceptibility to, 212 tests
  • Pancreatic cancer, susceptibility to, 38 tests
  • Pancreatic cancer, susceptibility to, 48 tests
  • Pancreatic hypoplasia-diabetes-congenital heart disease syndrome5 tests
  • Pancytopenia due to IKZF1 mutations2 tests
  • Pancytopenia-developmental delay syndrome1 test
  • Panhypopituitarism, X-linked1 test
  • Papillary renal cell carcinoma type 14 tests
  • Papillon-Lefèvre syndrome4 tests
  • Paragangliomas 13 tests
  • Paragangliomas 23 tests
  • Paragangliomas 34 tests
  • Paragangliomas 44 tests
  • Paragangliomas 54 tests
  • Paragangliomas with sensorineural hearing loss1 test
  • Paramyotonia congenita of Von Eulenburg5 tests
  • Parastremmatic dwarfism6 tests
  • Parathyroid carcinoma5 tests
  • Parietal foramina 12 tests
  • Parietal foramina 23 tests
  • Parietal foramina with cleidocranial dysplasia2 tests
  • Parkinson disease 171 test
  • Parkinson disease, late-onset4 tests
  • Parkinsonian-pyramidal syndrome1 test
  • Paroxysmal extreme pain disorder2 tests
  • Paroxysmal nocturnal hemoglobinuria 14 tests
  • Paroxysmal nocturnal hemoglobinuria 21 test
  • Paroxysmal nonkinesigenic dyskinesia 13 tests
  • Partial androgen insensitivity syndrome2 tests
  • Partial hypoxanthine-guanine phosphoribosyltransferase deficiency2 tests
  • Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome3 tests
  • Partington syndrome7 tests
  • Patent ductus arteriosus 21 test
  • Patterned macular dystrophy 15 tests
  • Patterned macular dystrophy 23 tests
  • PCWH syndrome3 tests
  • Peeling skin syndrome 12 tests
  • Pelger-Huët anomaly3 tests
  • Pelizaeus-Merzbacher disease5 tests
  • Pendred syndrome4 tests
  • PERCHING syndrome2 tests
  • Periodontitis, aggressive 14 tests
  • Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome1 test
  • Periventricular heterotopia with microcephaly, autosomal recessive2 tests
  • Periventricular nodular heterotopia 61 test
  • Periventricular nodular heterotopia 71 test
  • Perlman syndrome5 tests
  • Permanent neonatal diabetes mellitus 15 tests
  • Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome4 tests
  • Peroxisome biogenesis disorder 10A (Zellweger)3 tests
  • Peroxisome biogenesis disorder 10B3 tests
  • Peroxisome biogenesis disorder 11A (Zellweger)3 tests
  • Peroxisome biogenesis disorder 11B3 tests
  • Peroxisome biogenesis disorder 12A (Zellweger)3 tests
  • Peroxisome biogenesis disorder 13A (Zellweger)3 tests
  • Peroxisome biogenesis disorder 14B2 tests
  • Peroxisome biogenesis disorder 1A (Zellweger)6 tests
  • Peroxisome biogenesis disorder 1B6 tests
  • Peroxisome biogenesis disorder 2A (Zellweger)4 tests
  • Peroxisome biogenesis disorder 2B4 tests
  • Peroxisome biogenesis disorder 3A (Zellweger)4 tests
  • Peroxisome biogenesis disorder 4A (Zellweger)4 tests
  • Peroxisome biogenesis disorder 4B4 tests
  • Peroxisome biogenesis disorder 5A (Zellweger)4 tests
  • Peroxisome biogenesis disorder 5B4 tests
  • Peroxisome biogenesis disorder 6A (Zellweger)4 tests
  • Peroxisome biogenesis disorder 6B4 tests
  • Peroxisome biogenesis disorder 7A (Zellweger)4 tests
  • Peroxisome biogenesis disorder 7B4 tests
  • Peroxisome biogenesis disorder 8A (Zellweger)3 tests
  • Peroxisome biogenesis disorder 8B3 tests
  • Peroxisome biogenesis disorder 9B9 tests
  • Peroxisome biogenesis disorder type 3B4 tests
  • Perrault syndrome 11 test
  • Perrault syndrome 22 tests
  • Perrault syndrome 32 tests
  • Perrault syndrome 42 tests
  • Perrault syndrome 54 tests
  • Perry syndrome3 tests
  • Persistent hyperplastic primary vitreous, autosomal recessive2 tests
  • Persistent Mullerian duct syndrome1 test
  • Peters plus syndrome1 test
  • Pettigrew syndrome1 test
  • Peutz-Jeghers syndrome9 tests
  • Pfeiffer syndrome6 tests
  • PGM1-congenital disorder of glycosylation6 tests
  • PHARC syndrome4 tests
  • Phelan-McDermid syndrome1 test
  • Phenylketonuria2 tests
  • Pheochromocytoma12 tests
  • PHGDH deficiency2 tests
  • Phosphate transport defect5 tests
  • Phosphoenolpyruvate carboxykinase deficiency, cytosolic1 test
  • Phosphoribosylpyrophosphate synthetase superactivity6 tests
  • Phytanic acid storage disease7 tests
  • Pick disease4 tests
  • Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome5 tests
  • Piebaldism2 tests
  • Pierpont syndrome1 test
  • Pierson syndrome2 tests
  • Pigmentary pallidal degeneration2 tests
  • Pigmentary retinal dystrophy7 tests
  • Pigmented nodular adrenocortical disease, primary, 15 tests
  • Pigmented paravenous retinochoroidal atrophy5 tests
  • Pili torti-deafness syndrome4 tests
  • Pilomatrixoma6 tests
  • Pitt-Hopkins syndrome6 tests
  • Pitt-Hopkins-like syndrome 23 tests
  • Pituitary adenoma 3, multiple types5 tests
  • Pituitary adenoma 5, multiple types3 tests
  • Pituitary hormone deficiency, combined, 12 tests
  • Pituitary hormone deficiency, combined, 21 test
  • Pituitary hormone deficiency, combined, 63 tests
  • Pityriasis rubra pilaris1 test
  • Plasma fibronectin deficiency1 test
  • Platelet-type bleeding disorder 152 tests
  • Platelet-type bleeding disorder 163 tests
  • Platelet-type bleeding disorder 172 tests
  • Platelet-type bleeding disorder 192 tests
  • Platelet-type bleeding disorder 202 tests
  • Platelet-type bleeding disorder 82 tests
  • Platelet-type bleeding disorder 91 test
  • Platyspondylic dysplasia, Torrance type12 tests
  • PLIN1-related familial partial lipodystrophy2 tests
  • PMM2-congenital disorder of glycosylation3 tests
  • Poikiloderma with neutropenia2 tests
  • Polycystic kidney disease 24 tests
  • Polycystic kidney disease 3 with or without polycystic liver disease2 tests
  • Polycystic kidney disease 43 tests
  • Polycystic kidney disease 51 test
  • Polycystic kidney disease, adult type3 tests
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 12 tests
  • Polycystic liver disease 12 tests
  • Polycystic liver disease 22 tests
  • Polydactyly, postaxial, type A16 tests
  • Polyglandular autoimmune syndrome, type 11 test
  • Polyglucosan body myopathy type 14 tests
  • Polyglucosan body myopathy type 25 tests
  • Polymicrogyria, bilateral perisylvian, autosomal recessive2 tests
  • Polyposis syndrome, hereditary mixed, 23 tests
  • Polysyndactyly 46 tests
  • Pontocerebellar hypoplasia type 1A3 tests
  • Pontocerebellar hypoplasia type 1B4 tests
  • Pontocerebellar hypoplasia type 2A2 tests
  • Pontocerebellar hypoplasia type 2B2 tests
  • Pontocerebellar hypoplasia type 2D2 tests
  • Pontocerebellar hypoplasia type 42 tests
  • Pontocerebellar hypoplasia type 52 tests
  • Pontocerebellar hypoplasia type 62 tests
  • Pontocerebellar hypoplasia type 91 test
  • Pontocerebellar hypoplasia, type 1C2 tests
  • Porencephaly 24 tests
  • Porokeratosis 3, disseminated superficial actinic type2 tests
  • Porphobilinogen synthase deficiency1 test
  • Portal hypertension, noncirrhotic2 tests
  • Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome3 tests
  • Posterior column ataxia-retinitis pigmentosa syndrome4 tests
  • Posterior polymorphous corneal dystrophy 11 test
  • Posterior polymorphous corneal dystrophy 21 test
  • Posterior polymorphous corneal dystrophy 31 test
  • Postmenopausal osteoporosis14 tests
  • Potassium-aggravated myotonia5 tests
  • PPARG-related familial partial lipodystrophy5 tests
  • Precocious puberty, central, 21 test
  • Pregnancy loss, recurrent, susceptibility to, 12 tests
  • Pregnancy loss, recurrent, susceptibility to, 22 tests
  • Premature chromatid separation trait2 tests
  • Premature ovarian failure 14 tests
  • Premature ovarian failure 113 tests
  • Premature ovarian failure 31 test
  • Premature ovarian failure 51 test
  • Premature ovarian failure 73 tests
  • Preterm premature rupture of membranes3 tests
  • Pretibial dystrophic epidermolysis bullosa2 tests
  • Primary CD59 deficiency1 test
  • Primary ciliary dyskinesia 106 tests
  • Primary ciliary dyskinesia 115 tests
  • Primary ciliary dyskinesia 125 tests
  • Primary ciliary dyskinesia 136 tests
  • Primary ciliary dyskinesia 146 tests
  • Primary ciliary dyskinesia 156 tests
  • Primary ciliary dyskinesia 166 tests
  • Primary ciliary dyskinesia 174 tests
  • Primary ciliary dyskinesia 183 tests
  • Primary ciliary dyskinesia 194 tests
  • Primary ciliary dyskinesia 24 tests
  • Primary ciliary dyskinesia 204 tests
  • Primary ciliary dyskinesia 213 tests
  • Primary ciliary dyskinesia 224 tests
  • Primary ciliary dyskinesia 234 tests
  • Primary ciliary dyskinesia 243 tests
  • Primary ciliary dyskinesia 253 tests
  • Primary ciliary dyskinesia 273 tests
  • Primary ciliary dyskinesia 284 tests
  • Primary ciliary dyskinesia 293 tests
  • Primary ciliary dyskinesia 36 tests
  • Primary ciliary dyskinesia 302 tests
  • Primary ciliary dyskinesia 322 tests
  • Primary ciliary dyskinesia 332 tests
  • Primary ciliary dyskinesia 351 test
  • Primary ciliary dyskinesia 53 tests
  • Primary ciliary dyskinesia 65 tests
  • Primary ciliary dyskinesia 76 tests
  • Primary ciliary dyskinesia 96 tests
  • Primary coenzyme Q10 deficiency 81 test
  • Primary erythromelalgia2 tests
  • Primary failure of tooth eruption4 tests
  • Primary hyperoxaluria type 32 tests
  • Primary hyperoxaluria, type I3 tests
  • Primary hyperoxaluria, type II2 tests
  • Primary hypomagnesemia2 tests
  • Primary immunodeficiency syndrome due to p14 deficiency2 tests
  • Primary intraosseous venous malformation1 test
  • Primary myelofibrosis3 tests
  • Primary open angle glaucoma2 tests
  • Progeroid and marfanoid aspect-lipodystrophy syndrome7 tests
  • Progressive bulbar palsy of childhood1 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 115 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 23 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 34 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 43 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 53 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 115 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 35 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 42 tests
  • Progressive familial heart block type IB2 tests
  • Progressive familial heart block, type 1A5 tests
  • Progressive familial intrahepatic cholestasis type 11 test
  • Progressive familial intrahepatic cholestasis type 21 test
  • Progressive familial intrahepatic cholestasis type 31 test
  • Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome2 tests
  • Progressive myoclonic epilepsy type 32 tests
  • Progressive myoclonic epilepsy type 63 tests
  • Progressive myoclonic epilepsy type 73 tests
  • Progressive myoclonic epilepsy type 82 tests
  • Progressive myositis ossificans1 test
  • Progressive osseous heteroplasia5 tests
  • Progressive pseudorheumatoid dysplasia2 tests
  • Progressive retinal dystrophy due to retinol transport defect2 tests
  • Progressive scapulohumeroperoneal distal myopathy2 tests
  • Progressive sclerosing poliodystrophy15 tests
  • Progressive supranuclear palsy-parkinsonism syndrome2 tests
  • Prolidase deficiency1 test
  • Proliferative vitreoretinopathy2 tests
  • Proline dehydrogenase deficiency3 tests
  • Properdin deficiency, X-linked1 test
  • Propionic acidemia4 tests
  • Protein-losing enteropathy1 test
  • Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis5 tests
  • Proteus syndrome1 test
  • Protoporphyria, erythropoietic, 11 test
  • Proximal myopathy with extrapyramidal signs2 tests
  • Proximal symphalangism 1A3 tests
  • Pseudo von Willebrand disease3 tests
  • Pseudo-Hurler polydystrophy1 test
  • Pseudo-TORCH syndrome 12 tests
  • Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome1 test
  • Pseudohyperaldosteronism type 21 test
  • Pseudohypoaldosteronism type 2B1 test
  • Pseudohypoaldosteronism type 2C1 test
  • Pseudohypoaldosteronism type 2D1 test
  • Pseudohypoaldosteronism type 2E1 test
  • Pseudohypoparathyroidism type 1B5 tests
  • Pseudohypoparathyroidism type 1C5 tests
  • Pseudohypoparathyroidism type I A5 tests
  • Pseudopseudohypoparathyroidism5 tests
  • Pseudoxanthoma elasticum, forme fruste4 tests
  • Psoriasis 21 test
  • Psoriatic arthritis, susceptibility to1 test
  • Pterin-4 alpha-carbinolamine dehydratase 1 deficiency2 tests
  • PULMONARY ALVEOLAR MICROLITHIASIS2 tests
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 16 tests
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 26 tests
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 35 tests
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 44 tests
  • Pulmonary hypertension, neonatal, susceptibility to1 test
  • Pulmonary hypertension, primary, 12 tests
  • Pulmonary hypertension, primary, 33 tests
  • Pulmonary hypertension, primary, 41 test
  • Pulmonary venoocclusive disease 12 tests
  • PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome2 tests
  • PYCR1-related de Barsy syndrome4 tests
  • Pyknodysostosis3 tests
  • Pyridoxal phosphate-responsive seizures3 tests
  • Pyridoxine-dependent epilepsy5 tests
  • Pyruvate carboxylase deficiency2 tests
  • Pyruvate dehydrogenase E1-alpha deficiency2 tests
  • Pyruvate dehydrogenase E1-beta deficiency1 test
  • Pyruvate dehydrogenase E3 deficiency2 tests
  • Pyruvate dehydrogenase E3-binding protein deficiency2 tests
  • RAB23-related Carpenter syndrome2 tests
  • Rabson-Mendenhall syndrome3 tests
  • Radial aplasia-thrombocytopenia syndrome4 tests
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 12 tests
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 22 tests
  • Rafiq syndrome2 tests
  • Rapadilino syndrome9 tests
  • RAPH BLOOD GROUP SYSTEM1 test
  • Rapp-Hodgkin ectodermal dysplasia syndrome4 tests
  • Recessive dystrophic epidermolysis bullosa2 tests
  • Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome1 test
  • Recurrent Neisseria infections due to factor D deficiency1 test
  • Reis-Bucklers' corneal dystrophy2 tests
  • Renal carnitine transport defect4 tests
  • Renal coloboma syndrome2 tests
  • Renal cysts and diabetes syndrome5 tests
  • Renal hypomagnesemia 21 test
  • Renal hypomagnesemia 41 test
  • Renal hypomagnesemia 5 with ocular involvement2 tests
  • Renal hypomagnesemia 61 test
  • Renal tubular acidosis with progressive nerve deafness2 tests
  • Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss1 test
  • Renal tubular acidosis, distal, 4, with hemolytic anemia2 tests
  • Renal tubular dysgenesis1 test
  • Renal-hepatic-pancreatic dysplasia 18 tests
  • Renal-hepatic-pancreatic dysplasia 23 tests
  • Renpenning syndrome2 tests
  • Reticular dysgenesis2 tests
  • Retinal arterial tortuosity8 tests
  • Retinal cone dystrophy 3A3 tests
  • Retinal cone dystrophy 43 tests
  • Retinal dystrophy and obesity2 tests
  • Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies2 tests
  • Retinal macular dystrophy type 26 tests
  • Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations5 tests
  • Retinitis pigmentosa 12 tests
  • Retinitis pigmentosa 103 tests
  • Retinitis pigmentosa 112 tests
  • Retinitis pigmentosa 125 tests
  • Retinitis pigmentosa 132 tests
  • Retinitis pigmentosa 143 tests
  • Retinitis pigmentosa 172 tests
  • Retinitis pigmentosa 182 tests
  • Retinitis pigmentosa 196 tests
  • Retinitis pigmentosa 22 tests
  • Retinitis pigmentosa 204 tests
  • Retinitis pigmentosa 2313 tests
  • Retinitis pigmentosa 252 tests
  • Retinitis pigmentosa 264 tests
  • Retinitis pigmentosa 272 tests
  • Retinitis pigmentosa 282 tests
  • Retinitis pigmentosa 35 tests
  • Retinitis pigmentosa 312 tests
  • Retinitis pigmentosa 332 tests
  • Retinitis pigmentosa 353 tests
  • Retinitis pigmentosa 362 tests
  • Retinitis pigmentosa 373 tests
  • Retinitis pigmentosa 384 tests
  • Retinitis pigmentosa 392 tests
  • Retinitis pigmentosa 44 tests
  • Retinitis pigmentosa 403 tests
  • Retinitis pigmentosa 416 tests
  • Retinitis pigmentosa 422 tests
  • Retinitis pigmentosa 432 tests
  • Retinitis pigmentosa 442 tests
  • Retinitis pigmentosa 452 tests
  • Retinitis pigmentosa 462 tests
  • Retinitis pigmentosa 473 tests
  • Retinitis pigmentosa 492 tests
  • Retinitis pigmentosa 505 tests
  • Retinitis pigmentosa 518 tests
  • Retinitis pigmentosa 558 tests
  • Retinitis pigmentosa 563 tests
  • Retinitis pigmentosa 572 tests
  • Retinitis pigmentosa 582 tests
  • Retinitis pigmentosa 593 tests
  • Retinitis pigmentosa 602 tests
  • Retinitis pigmentosa 612 tests
  • Retinitis pigmentosa 622 tests
  • Retinitis pigmentosa 662 tests
  • Retinitis pigmentosa 672 tests
  • Retinitis pigmentosa 682 tests
  • Retinitis pigmentosa 692 tests
  • Retinitis pigmentosa 75 tests
  • Retinitis pigmentosa 702 tests
  • Retinitis pigmentosa 717 tests
  • Retinitis pigmentosa 723 tests
  • Retinitis pigmentosa 733 tests
  • Retinitis pigmentosa 748 tests
  • Retinitis pigmentosa 752 tests
  • Retinitis pigmentosa 761 test
  • Retinitis pigmentosa 772 tests
  • Retinitis pigmentosa 783 tests
  • Retinitis pigmentosa 792 tests
  • Retinitis pigmentosa with or without situs inversus2 tests
  • Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness5 tests
  • Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome1 test
  • Retinoblastoma3 tests
  • Rett syndrome8 tests
  • Rett syndrome, congenital variant5 tests
  • Revesz syndrome6 tests
  • Reynolds syndrome3 tests
  • RFT1-congenital disorder of glycosylation1 test
  • Rhabdoid tumor predisposition syndrome 13 tests
  • Rhabdoid tumor predisposition syndrome 22 tests
  • Rhabdomyosarcoma, embryonal, 23 tests
  • Rhizomelic chondrodysplasia punctata type 19 tests
  • Rhizomelic chondrodysplasia punctata type 23 tests
  • Rhizomelic chondrodysplasia punctata type 33 tests
  • Rhizomelic chondrodysplasia punctata type 54 tests
  • Rienhoff syndrome4 tests
  • Right atrial isomerism2 tests
  • RIN2 syndrome1 test
  • Ring dermoid of cornea3 tests
  • Rippling muscle disease 27 tests
  • Ritscher-Schinzel syndrome 13 tests
  • Roberts-SC phocomelia syndrome5 tests
  • Robinow-Sorauf syndrome3 tests
  • Roifman syndrome2 tests
  • Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked3 tests
  • Rothmund-Thomson syndrome type 29 tests
  • Rotor syndrome1 test
  • Roussy-Lévy syndrome1 test
  • Rubinstein-Taybi syndrome due to CREBBP mutations4 tests
  • Rubinstein-Taybi syndrome due to EP300 haploinsufficiency3 tests
  • Saccharopinuria1 test
  • Saethre-Chotzen syndrome4 tests
  • Saldino-Mainzer syndrome8 tests
  • Salla disease1 test
  • Sandhoff disease1 test
  • Sarcotubular myopathy9 tests
  • Scalp-ear-nipple syndrome1 test
  • Scapuloperoneal spinal muscular atrophy6 tests
  • Schaaf-Yang syndrome1 test
  • SchC6pf-Schulz-Passarge syndrome2 tests
  • Schimke immuno-osseous dysplasia3 tests
  • Schinzel phocomelia syndrome1 test
  • Schizencephaly2 tests
  • Schizophrenia6 tests
  • Schizophrenia 151 test
  • Schizophrenia 43 tests
  • Schneckenbecken dysplasia2 tests
  • Schnyder crystalline corneal dystrophy1 test
  • Schwannomatosis 15 tests
  • Schwannomatosis 22 tests
  • Schwartz-Jampel syndrome3 tests
  • Schwartz-Jampel syndrome type 11 test
  • Sclerosteosis 12 tests
  • Sclerosteosis 21 test
  • Sea-blue histiocyte syndrome6 tests
  • Seborrheic keratosis5 tests
  • Seckel syndrome 16 tests
  • Seckel syndrome 22 tests
  • Seckel syndrome 43 tests
  • Seckel syndrome 53 tests
  • Seckel syndrome 63 tests
  • Seizures, benign familial infantile, 27 tests
  • Seizures, benign familial infantile, 34 tests
  • Seizures, benign familial infantile, 54 tests
  • Seizures, benign familial neonatal, 14 tests
  • Seizures, benign familial neonatal, 23 tests
  • Seizures-scoliosis-macrocephaly syndrome2 tests
  • Selective pituitary resistance to thyroid hormone1 test
  • Sengers syndrome3 tests
  • Senior-Loken syndrome 19 tests
  • Senior-Loken syndrome 46 tests
  • Senior-Loken syndrome 56 tests
  • Senior-Loken syndrome 612 tests
  • Senior-Loken syndrome 76 tests
  • Senior-Loken syndrome 810 tests
  • Senior-Loken syndrome 92 tests
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis15 tests
  • Septo-optic dysplasia sequence4 tests
  • Severe achondroplasia-developmental delay-acanthosis nigricans syndrome8 tests
  • Severe dermatitis-multiple allergies-metabolic wasting syndrome2 tests
  • Severe early-childhood-onset retinal dystrophy7 tests
  • Severe intellectual disability-progressive spastic diplegia syndrome3 tests
  • Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome1 test
  • Severe myoclonic epilepsy in infancy5 tests
  • Severe neonatal-onset encephalopathy with microcephaly8 tests
  • Severe neurodegenerative syndrome with lipodystrophy7 tests
  • Severe X-linked mitochondrial encephalomyopathy2 tests
  • Severe X-linked myotubular myopathy3 tests
  • Short QT syndrome type 16 tests
  • Short QT syndrome type 27 tests
  • Short QT syndrome type 36 tests
  • Short stature due to partial GHR deficiency1 test
  • Short stature with nonspecific skeletal abnormalities2 tests
  • Short stature, microcephaly, and endocrine dysfunction2 tests
  • Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome1 test
  • Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome1 test
  • Short-rib thoracic dysplasia 10 with or without polydactyly7 tests
  • Short-rib thoracic dysplasia 11 with or without polydactyly2 tests
  • Short-rib thoracic dysplasia 13 with or without polydactyly2 tests
  • Short-rib thoracic dysplasia 14 with polydactyly3 tests
  • Short-rib thoracic dysplasia 15 with polydactyly1 test
  • Short-rib thoracic dysplasia 6 with or without polydactyly4 tests
  • Short-rib thoracic dysplasia 7 with or without polydactyly8 tests
  • Short-rib thoracic dysplasia 8 with or without polydactyly3 tests
  • SHOX-related short stature2 tests
  • Shprintzen-Goldberg syndrome4 tests
  • Shwachman-Diamond syndrome 16 tests
  • Sialic acid storage disease, severe infantile type1 test
  • Sialidosis type 23 tests
  • Sialuria4 tests
  • Sick sinus syndrome 15 tests
  • Sick sinus syndrome 2, autosomal dominant3 tests
  • Sick sinus syndrome 3, susceptibility to1 test
  • Sideroblastic anemia 31 test
  • Sifrim-Hitz-Weiss syndrome1 test
  • Silver-Russell syndrome 12 tests
  • Silver-Russell syndrome 32 tests
  • Simpson-Golabi-Behmel syndrome type 18 tests
  • Simpson-Golabi-Behmel syndrome type 213 tests
  • Singleton-Merten syndrome 11 test
  • Sitosterolemia 15 tests
  • Sjögren-Larsson syndrome3 tests
  • Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome2 tests
  • SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES1 test
  • SKIN/HAIR/EYE PIGMENTATION 6, BLOND/BROWN HAIR1 test
  • SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN1 test
  • Skraban-Deardorff syndrome1 test
  • SLC35A1-congenital disorder of glycosylation1 test
  • SLC35A2-congenital disorder of glycosylation3 tests
  • SLC39A8-CDG2 tests
  • Small cell lung carcinoma3 tests
  • Smith-Lemli-Opitz syndrome8 tests
  • Smith-Magenis syndrome1 test
  • Smith-McCort dysplasia 14 tests
  • Smith-McCort dysplasia 21 test
  • Smoking as a quantitative trait locus 31 test
  • Snowflake vitreoretinal degeneration3 tests
  • Sodium serum level quantitative trait locus 16 tests
  • Solitary median maxillary central incisor syndrome1 test
  • Somatotroph adenoma3 tests
  • Sorsby fundus dystrophy2 tests
  • Sotos syndrome8 tests
  • Southeast Asian ovalocytosis2 tests
  • Spastic ataxia 12 tests
  • Spastic ataxia 21 test
  • Spastic ataxia 35 tests
  • Spastic ataxia 42 tests
  • Spastic ataxia 54 tests
  • Spastic paraplegia 52, autosomal recessive3 tests
  • Spastic paraplegia-severe developmental delay-epilepsy syndrome2 tests
  • Spasticity-ataxia-gait anomalies syndrome1 test
  • Specific granule deficiency 22 tests
  • Spermatogenic failure 182 tests
  • Spermatogenic failure 71 test
  • Spermatogenic failure 83 tests
  • Sphingolipid activator protein 1 deficiency3 tests
  • Spinal muscular atrophy, type II1 test
  • Spinal muscular atrophy, type IV1 test
  • Spinal muscular atrophy-progressive myoclonic epilepsy syndrome4 tests
  • Spinocerebellar ataxia 431 test
  • Spinocerebellar ataxia 442 tests
  • Spinocerebellar ataxia 71 test
  • Spinocerebellar ataxia type 112 tests
  • Spinocerebellar ataxia type 122 tests
  • Spinocerebellar ataxia type 132 tests
  • Spinocerebellar ataxia type 144 tests
  • Spinocerebellar ataxia type 15/162 tests
  • Spinocerebellar ataxia type 19/222 tests
  • Spinocerebellar ataxia type 212 tests
  • Spinocerebellar ataxia type 232 tests
  • Spinocerebellar ataxia type 262 tests
  • Spinocerebellar ataxia type 273 tests
  • Spinocerebellar ataxia type 284 tests
  • Spinocerebellar ataxia type 292 tests
  • Spinocerebellar ataxia type 312 tests
  • Spinocerebellar ataxia type 346 tests
  • Spinocerebellar ataxia type 352 tests
  • Spinocerebellar ataxia type 382 tests
  • Spinocerebellar ataxia type 402 tests
  • Spinocerebellar ataxia type 52 tests
  • Spinocerebellar ataxia type 65 tests
  • Spinocerebellar ataxia, autosomal recessive 243 tests
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 12 tests
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 25 tests
  • Split hand-foot malformation 1 with sensorineural hearing loss1 test
  • Split hand-foot malformation 44 tests
  • Spondylo-megaepiphyseal-metaphyseal dysplasia2 tests
  • Spondylo-ocular syndrome1 test
  • Spondylocarpotarsal synostosis syndrome4 tests
  • Spondylocostal dysostosis 1, autosomal recessive3 tests
  • Spondylocostal dysostosis 2, autosomal recessive1 test
  • Spondyloenchondrodysplasia with immune dysregulation2 tests
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures2 tests
  • Spondyloepimetaphyseal dysplasia with multiple dislocations1 test
  • Spondyloepimetaphyseal dysplasia, aggrecan type2 tests
  • Spondyloepimetaphyseal dysplasia, Maroteaux type6 tests
  • Spondyloepimetaphyseal dysplasia, matrilin-3 type2 tests
  • Spondyloepimetaphyseal dysplasia, Missouri type3 tests
  • Spondyloepimetaphyseal dysplasia, PAPSS2 type2 tests
  • Spondyloepimetaphyseal dysplasia, Strudwick type12 tests
  • Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome2 tests
  • Spondyloepiphyseal dysplasia congenita12 tests
  • Spondyloepiphyseal dysplasia tarda1 test
  • Spondyloepiphyseal dysplasia tarda, X-linked1 test
  • Spondyloepiphyseal dysplasia with congenital joint dislocations2 tests
  • Spondyloepiphyseal dysplasia with metatarsal shortening12 tests
  • Spondyloepiphyseal dysplasia, Kimberley type2 tests
  • Spondyloepiphyseal dysplasia, Stanescu type12 tests
  • Spondylometaphyseal dysplasia, Kozlowski type6 tests
  • Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome2 tests
  • Spondyloperipheral dysplasia12 tests
  • Spongiform encephalopathy with neuropsychiatric features4 tests
  • Spongy degeneration of central nervous system4 tests
  • Squamous cell carcinoma of the head and neck13 tests
  • SRD5A3-congenital disorder of glycosylation1 test
  • SSR4-congenital disorder of glycosylation1 test
  • Stapes ankylosis with broad thumbs and toes3 tests
  • Stargardt disease 36 tests
  • Stargardt disease 46 tests
  • STAT3-related early-onset multisystem autoimmune disease2 tests
  • Steatocystoma multiplex2 tests
  • Steinert myotonic dystrophy syndrome1 test
  • Stickler syndrome type 112 tests
  • Stickler syndrome type 210 tests
  • Stickler syndrome, type 46 tests
  • Stickler syndrome, type 56 tests
  • Stickler syndrome, type I, nonsyndromic ocular12 tests
  • Stiff skin syndrome7 tests
  • Stormorken syndrome1 test
  • Striatal degeneration, autosomal dominant 21 test
  • Stroke, susceptibility to, 11 test
  • Stromme syndrome3 tests
  • STT3A-congenital disorder of glycosylation1 test
  • STT3B-congenital disorder of glycosylation1 test
  • Stuttering, familial persistent, 13 tests
  • Stuve-Wiedemann syndrome4 tests
  • Succinate-semialdehyde dehydrogenase deficiency6 tests
  • Succinyl-CoA acetoacetate transferase deficiency1 test
  • Sucrase-isomaltase deficiency1 test
  • Sudden cardiac failure, alcohol-induced1 test
  • Sudden cardiac failure, infantile1 test
  • SUDDEN INFANT DEATH SYNDROME5 tests
  • Sulfite oxidase deficiency4 tests
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A5 tests
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 test
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C4 tests
  • Supranuclear palsy, progressive, 12 tests
  • Supravalvar aortic stenosis7 tests
  • Surfactant metabolism dysfunction, pulmonary, 14 tests
  • Surfactant metabolism dysfunction, pulmonary, 24 tests
  • Surfactant metabolism dysfunction, pulmonary, 44 tests
  • Surfactant metabolism dysfunction, pulmonary, 52 tests
  • Symmetrical dyschromatosis of extremities4 tests
  • Symphalangism, proximal, 1B6 tests
  • Symphalangism-brachydactyly syndrome3 tests
  • Syndactyly type 34 tests
  • Syndactyly type 52 tests
  • Syndactyly-telecanthus-anogenital and renal malformations syndrome3 tests
  • Syndromic microphthalmia type 53 tests
  • Syndromic X-linked intellectual disability 143 tests
  • Syndromic X-linked intellectual disability 943 tests
  • Syndromic X-linked intellectual disability Claes-Jensen type3 tests
  • Syndromic X-linked intellectual disability Hedera type1 test
  • Syndromic X-linked intellectual disability Lubs type8 tests
  • Syndromic X-linked intellectual disability Najm type7 tests
  • Syndromic X-linked intellectual disability Nascimento type3 tests
  • Syndromic X-linked intellectual disability Raymond type1 test
  • Syndromic X-linked intellectual disability Siderius type1 test
  • Syndromic X-linked intellectual disability Snyder type2 tests
  • Synpolydactyly type 12 tests
  • Systemic lupus erythematosus5 tests
  • Systemic lupus erythematosus, susceptibility to, 91 test
  • Tall stature-scoliosis-macrodactyly of the great toes syndrome2 tests
  • Tangier disease3 tests
  • TARP syndrome2 tests
  • Tarsal-carpal coalition syndrome3 tests
  • Tatton-Brown-Rahman overgrowth syndrome1 test
  • Tay-Sachs disease5 tests
  • Tay-Sachs disease, variant AB1 test
  • TCF12-related craniosynostosis2 tests
  • Telangiectasia, hereditary hemorrhagic, type 15 tests
  • Telangiectasia, hereditary hemorrhagic, type 24 tests
  • Telangiectasia, hereditary hemorrhagic, type 51 test
  • Temple-Baraitser syndrome1 test
  • Temtamy preaxial brachydactyly syndrome1 test
  • Terminal osseous dysplasia-pigmentary defects syndrome12 tests
  • Testicular anomalies with or without congenital heart disease2 tests
  • Testosterone 17-beta-dehydrogenase deficiency1 test
  • Tetralogy of Fallot11 tests
  • Thanatophoric dysplasia type 18 tests
  • Thanatophoric dysplasia, type 28 tests
  • Thiel-Behnke corneal dystrophy2 tests
  • Thiopurine S-methyltransferase deficiency1 test
  • Thrombocythemia 12 tests
  • Thrombocythemia 23 tests
  • Thrombocytopenia 14 tests
  • Thrombocytopenia 24 tests
  • Thrombocytopenia 32 tests
  • Thrombocytopenia 42 tests
  • Thrombocytopenia 54 tests
  • Thrombocytopenia 62 tests
  • Thrombocytopenia, X-linked, with or without dyserythropoietic anemia4 tests
  • Thrombomodulin-related bleeding disorder4 tests
  • Thrombophilia due to activated protein C resistance2 tests
  • Thrombophilia due to protein C deficiency, autosomal dominant1 test
  • Thrombophilia due to protein C deficiency, autosomal recessive1 test
  • Thrombophilia due to protein S deficiency, autosomal dominant1 test
  • Thrombophilia due to protein S deficiency, autosomal recessive1 test
  • Thrombophilia due to thrombin defect7 tests
  • Thrombophilia, X-linked, due to factor 9 defect2 tests
  • Thyroglobulin synthesis defect1 test
  • Thyroid cancer, nonmedullary, 15 tests
  • Thyroid cancer, nonmedullary, 210 tests
  • Thyroid cancer, nonmedullary, 42 tests
  • Thyroid dyshormonogenesis 61 test
  • Thyroid hormone metabolism, abnormal 11 test
  • Thyroid hormone resistance, generalized, autosomal dominant1 test
  • Thyroid hormone resistance, generalized, autosomal recessive1 test
  • Thyrotoxic periodic paralysis, susceptibility to, 12 tests
  • Tibial muscular dystrophy3 tests
  • Timothy syndrome5 tests
  • TMEM165-congenital disorder of glycosylation1 test
  • TNF receptor-associated periodic fever syndrome (TRAPS)1 test
  • Tobacco addiction, susceptibility to5 tests
  • Tooth agenesis, selective, 11 test
  • Tooth agenesis, selective, 42 tests
  • Tooth agenesis, selective, 73 tests
  • Tooth agenesis, selective, X-linked, 11 test
  • Torsion dystonia 43 tests
  • Torsion dystonia 61 test
  • Townes-Brocks syndrome 12 tests
  • Transcobalamin II deficiency1 test
  • Transferrin serum level quantitative trait locus 22 tests
  • Transient bullous dermolysis of the newborn2 tests
  • Transient infantile hypertriglyceridemia and hepatosteatosis1 test
  • Treacher Collins syndrome 14 tests
  • Treacher Collins syndrome 24 tests
  • Treacher Collins syndrome 32 tests
  • Tremor, hereditary essential, 42 tests
  • Tricho-dento-osseous syndrome2 tests
  • Trichohepatoenteric syndrome 11 test
  • Trichomegaly-retina pigmentary degeneration-dwarfism syndrome6 tests
  • Trichorhinophalangeal dysplasia type I1 test
  • Trichorhinophalangeal syndrome, type III1 test
  • Trichothiodystrophy 1, photosensitive6 tests
  • Trichothiodystrophy 2, photosensitive3 tests
  • Trichothiodystrophy 4, nonphotosensitive2 tests
  • Triglyceride storage disease with ichthyosis2 tests
  • Trigonocephaly 16 tests
  • Trigonocephaly 23 tests
  • Tropical pancreatitis1 test
  • Troyer syndrome2 tests
  • Trypsinogen deficiency1 test
  • Tuberous sclerosis 112 tests
  • Tuberous sclerosis 212 tests
  • Tumor predisposition syndrome 31 test
  • Tumoral calcinosis, hyperphosphatemic, familial, 15 tests
  • TWIST1-related craniosynostosis3 tests
  • Type 1 diabetes mellitus 23 tests
  • Type 1 diabetes mellitus 204 tests
  • Type 2 diabetes mellitus30 tests
  • Type A2 brachydactyly6 tests
  • Type I complement component 8 deficiency1 test
  • Type II complement component 8 deficiency1 test
  • Tyrosinemia type I4 tests
  • Tyrosinemia type II1 test
  • Tyrosinemia type III1 test
  • UDPglucose-4-epimerase deficiency5 tests
  • Ullrich congenital muscular dystrophy 1A3 tests
  • Ullrich congenital muscular dystrophy 21 test
  • Ulnar-mammary syndrome1 test
  • Unverricht-Lundborg syndrome4 tests
  • Upshaw-Schulman syndrome3 tests
  • Usher syndrome type 15 tests
  • Usher syndrome type 1C3 tests
  • Usher syndrome type 1D4 tests
  • Usher syndrome type 1F4 tests
  • Usher syndrome type 1G1 test
  • Usher syndrome type 1J3 tests
  • Usher syndrome type 2A2 tests
  • Usher syndrome type 2C1 test
  • Usher syndrome type 2D2 tests
  • Usher syndrome type 3A2 tests
  • Usher syndrome type 3B1 test
  • UV-sensitive syndrome 13 tests
  • UV-sensitive syndrome 22 tests
  • VACTERL association, X-linked, with or without hydrocephalus3 tests
  • VACTERL with hydrocephalus13 tests
  • Van den Ende-Gupta syndrome1 test
  • Van der Woude syndrome 14 tests
  • Van der Woude syndrome 21 test
  • Van Maldergem syndrome 22 tests
  • Vanishing white matter disease4 tests
  • Variegate porphyria2 tests
  • Velocardiofacial syndrome1 test
  • Ventricular fibrillation, paroxysmal familial, type 15 tests
  • Ventricular septal defect 12 tests
  • Ventricular septal defect 33 tests
  • Ventriculomegaly-cystic kidney disease2 tests
  • Very long chain acyl-CoA dehydrogenase deficiency4 tests
  • Vesicoureteral reflux 21 test
  • Vici syndrome1 test
  • Visceral myopathy 11 test
  • Vitamin D hydroxylation-deficient rickets, type 1B2 tests
  • Vitamin D-dependent rickets type II with alopecia5 tests
  • Vitamin D-dependent rickets, type 1A4 tests
  • Vitamin K-dependent clotting factors, combined deficiency of, type 13 tests
  • Vitamin K-dependent clotting factors, combined deficiency of, type 22 tests
  • Vitelliform macular dystrophy 25 tests
  • Vitelliform macular dystrophy 35 tests
  • Vitelliform macular dystrophy 42 tests
  • Vitelliform macular dystrophy 53 tests
  • Von Hippel-Lindau syndrome6 tests
  • von Willebrand disease type 12 tests
  • von Willebrand disease type 22 tests
  • von Willebrand disease type 32 tests
  • Waardenburg syndrome type 11 test
  • Waardenburg syndrome type 2E3 tests
  • Waardenburg syndrome type 31 test
  • Waardenburg syndrome type 4A1 test
  • Waardenburg syndrome type 4B2 tests
  • Waardenburg syndrome type 4C3 tests
  • Wagner syndrome4 tests
  • Warburg micro syndrome 12 tests
  • Warburg micro syndrome 21 test
  • Warburg micro syndrome 32 tests
  • Warfarin response3 tests
  • Warts, hypogammaglobulinemia, infections, and myelokathexis2 tests
  • Weaver syndrome2 tests
  • Weill-Marchesani 4 syndrome, recessive4 tests
  • Weill-Marchesani syndrome 16 tests
  • Weill-Marchesani syndrome 2, dominant7 tests
  • Weill-Marchesani syndrome 34 tests
  • Werdnig-Hoffmann disease1 test
  • Werner syndrome4 tests
  • Wieacker-Wolff syndrome2 tests
  • Wilms tumor 124 tests
  • Wilms tumor 22 tests
  • Wilms tumor 62 tests
  • Wilson disease3 tests
  • Wilson-Turner syndrome1 test
  • Wiskott-Aldrich syndrome4 tests
  • Wiskott-Aldrich syndrome 23 tests
  • Wolcott-Rallison dysplasia4 tests
  • Wolff-Parkinson-White pattern4 tests
  • Wolfram syndrome 112 tests
  • Wolfram syndrome 23 tests
  • Wolfram-like syndrome12 tests
  • Woodhouse-Sakati syndrome1 test
  • Woolly hair-skin fragility syndrome6 tests
  • Worth disease8 tests
  • Wrinkly skin syndrome6 tests
  • X-linked Alport syndrome2 tests
  • X-linked central congenital hypothyroidism with late-onset testicular enlargement1 test
  • X-linked chondrodysplasia punctata 13 tests
  • X-linked complicated corpus callosum dysgenesis4 tests
  • X-linked cone-rod dystrophy 15 tests
  • X-linked cone-rod dystrophy 33 tests
  • X-linked distal spinal muscular atrophy type 35 tests
  • X-linked dyserythropoetic anemia with abnormal platelets and neutropenia4 tests
  • X-linked dystonia-parkinsonism2 tests
  • X-linked Emery-Dreifuss muscular dystrophy2 tests
  • X-linked erythropoietic protoporphyria1 test
  • X-linked hydrocephalus syndrome4 tests
  • X-linked ichthyosis with steryl-sulfatase deficiency2 tests
  • X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia5 tests
  • X-linked intellectual disability Cabezas type4 tests
  • X-linked intellectual disability with marfanoid habitus6 tests
  • X-linked intellectual disability, Cantagrel type1 test
  • X-linked intellectual disability, Stocco dos Santos type2 tests
  • X-linked intellectual disability-cerebellar hypoplasia syndrome5 tests
  • X-linked intellectual disability-psychosis-macroorchidism syndrome8 tests
  • X-linked lissencephaly with abnormal genitalia7 tests
  • X-linked lymphoproliferative disease due to SH2D1A deficiency2 tests
  • X-linked lymphoproliferative disease due to XIAP deficiency2 tests
  • X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency1 test
  • X-linked mixed hearing loss with perilymphatic gusher2 tests
  • X-linked myopathy with excessive autophagy2 tests
  • X-linked myopathy with postural muscle atrophy2 tests
  • X-linked Opitz G/BBB syndrome2 tests
  • X-linked parkinsonism-spasticity syndrome1 test
  • X-linked recessive nephrolithiasis with renal failure5 tests
  • X-linked scapuloperoneal muscular dystrophy2 tests
  • X-linked severe congenital neutropenia4 tests
  • X-linked sideroblastic anemia 11 test
  • X-linked sideroblastic anemia with ataxia2 tests
  • X-linked spondyloepimetaphyseal dysplasia4 tests
  • Xanthinuria type II1 test
  • Xeroderma pigmentosum group A2 tests
  • Xeroderma pigmentosum group B3 tests
  • Xeroderma pigmentosum variant type2 tests
  • Xeroderma pigmentosum, group C2 tests
  • Xeroderma pigmentosum, group D6 tests
  • Xeroderma pigmentosum, group E2 tests
  • Xeroderma pigmentosum, group F6 tests
  • Xeroderma pigmentosum, group G5 tests
  • XFE progeroid syndrome6 tests
  • Yao syndrome1 test
  • Yunis-Varon syndrome2 tests
  • Zimmermann-Laband syndrome 11 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Deletion/Duplication Testing
  • Custom Sequence Analysis
  • Carrier testing
  • Identity Testing
  • Maternal cell contamination study (MCC)
  • Mutation Confirmation
  • Result interpretation
  • Uniparental Disomy (UPD) Testing

List of certifications/licenses

Certifications

  • EMQN, Number: 1667, Expiration date: 2023-08-21

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.