GTR Home > Laboratories > CGC Genetics

CGC Genetics

GTR Lab ID: 202248, Last updated:2021-10-07

Personnel

Conditions and tests

  • 1q21.1 recurrent microdeletion5 tests
  • 2,4-Dienoyl-CoA reductase deficiency4 tests
  • 2-aminoadipic 2-oxoadipic aciduria3 tests
  • 2-hydroxyglutaric aciduria2 tests
  • 22q13.3 deletion syndrome2 tests
  • 3 beta-Hydroxysteroid dehydrogenase deficiency3 tests
  • 3 Methylcrotonyl-CoA carboxylase 1 deficiency2 tests
  • 3-methylcrotonyl CoA carboxylase 2 deficiency2 tests
  • 3-Methylglutaconic aciduria type 15 tests
  • 3-Methylglutaconic aciduria type 29 tests
  • 3-Methylglutaconic aciduria type 314 tests
  • 3-methylglutaconic aciduria type V5 tests
  • 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia3 tests
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome7 tests
  • 3-methylglutaconic aciduria, type VIII7 tests
  • 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency4 tests
  • 3MC syndrome 13 tests
  • 3MC syndrome 23 tests
  • 3MC syndrome 31 test
  • 46,XX sex reversal, type 16 tests
  • 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy3 tests
  • 46,XY sex reversal 82 tests
  • 46,XY sex reversal 91 test
  • 46,XY sex reversal, type 17 tests
  • 46,XY sex reversal, type 25 tests
  • 46,XY sex reversal, type 36 tests
  • 46,XY sex reversal, type 52 tests
  • 46,XY sex reversal, type 63 tests
  • 46,XY sex reversal, type 73 tests
  • 4p partial monosomy syndrome1 test
  • 5p partial monosomy syndrome1 test
  • Aarskog syndrome4 tests
  • ABCD syndrome5 tests
  • Abetalipoproteinaemia6 tests
  • Ablepharon macrostomia syndrome2 tests
  • Abnormal circulating lipid concentration1 test
  • Abnormal testis morphology1 test
  • Abnormality of neuronal migration1 test
  • Abortive cerebellar ataxia10 tests
  • ABri amyloidosis4 tests
  • Abruzzo-Erickson syndrome1 test
  • Acatalasia1 test
  • Acetyl-CoA acetyltransferase-2 deficiency1 test
  • Acheiropodia1 test
  • Achondrogenesis type II18 tests
  • Achondrogenesis, type IA1 test
  • Achondrogenesis, type IB7 tests
  • Achondroplasia12 tests
  • Achromatopsia 24 tests
  • Achromatopsia 38 tests
  • Achromatopsia 44 tests
  • Achromatopsia 73 tests
  • Acid phosphatase deficiency2 tests
  • Acid-labile subunit deficiency1 test
  • Acne inversa, familial, 21 test
  • Acne inversa, familial, 38 tests
  • Acquired hemoglobin H disease5 tests
  • Acrocallosal syndrome11 tests
  • Acrocapitofemoral dysplasia4 tests
  • Acrocephalosyndactyly type I15 tests
  • Acrodysostosis 1 with or without hormone resistance6 tests
  • Acrodysostosis 2, with or without hormone resistance3 tests
  • Acroerythrokeratoderma3 tests
  • Acrofacial dysostosis, Cincinnati type1 test
  • Acrokeratosis verruciformis of Hopf3 tests
  • Acromelic frontonasal dysostosis1 test
  • Acromesomelic dysplasia, Demirhan type3 tests
  • Acromesomelic dysplasia, Hunter-Thompson type4 tests
  • Acromesomelic dysplasia, Maroteaux type2 tests
  • Acromicric dysplasia5 tests
  • ACTH resistance1 test
  • Acth-independent macronodular adrenal hyperplasia 21 test
  • ACTN3 deficiency1 test
  • Acute erythroleukemia, familial1 test
  • Acute febrile mucocutaneous lymph node syndrome1 test
  • Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins4 tests
  • Acute intermittent porphyria5 tests
  • Acute lymphoid leukemia22 tests
  • Acute myeloid leukemia56 tests
  • Acute myelomonocytic leukemia M41 test
  • Acute Porphyria1 test
  • Acute promyelocytic leukemia7 tests
  • Acyl-CoA dehydrogenase family, member 9, deficiency of2 tests
  • Adams-Oliver syndrome 14 tests
  • Adams-Oliver syndrome 23 tests
  • Adams-Oliver syndrome 34 tests
  • Adams-Oliver syndrome 44 tests
  • Adams-Oliver syndrome 56 tests
  • Adams-Oliver syndrome 64 tests
  • ADan amyloidosis4 tests
  • Adenosine kinase deficiency1 test
  • Adenosine triphosphate, elevated, of erythrocytes2 tests
  • Adenylate kinase deficiency, hemolytic anemia due to2 tests
  • Adenylosuccinate lyase deficiency4 tests
  • Adermatoglyphia1 test
  • Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete4 tests
  • Adrenocortical carcinoma, hereditary10 tests
  • Adrenocorticotropic hormone deficiency1 test
  • Adrenoleukodystrophy4 tests
  • Adult hypophosphatasia7 tests
  • Adult neuronal ceroid lipofuscinosis7 tests
  • Adult polyglucosan body disease11 tests
  • Adult proximal spinal muscular atrophy, autosomal dominant4 tests
  • ADULT syndrome8 tests
  • Afibrinogenemia4 tests
  • Afibrinogenemia, congenital9 tests
  • Agammaglobulinemia 2, autosomal recessive2 tests
  • Agammaglobulinemia 3, autosomal recessive1 test
  • Agammaglobulinemia 4, autosomal recessive1 test
  • Agammaglobulinemia 6, autosomal recessive1 test
  • Agammaglobulinemia 7, autosomal recessive3 tests
  • Agammaglobulinemia 8, autosomal dominant1 test
  • Age-related macular degeneration 19 tests
  • Age-related macular degeneration 113 tests
  • Age-related macular degeneration 134 tests
  • Age-related macular degeneration 146 tests
  • Age-related macular degeneration 26 tests
  • Age-related macular degeneration 35 tests
  • Age-related macular degeneration 46 tests
  • Age-related macular degeneration 512 tests
  • Age-related macular degeneration 63 tests
  • Age-related macular degeneration 76 tests
  • Age-related macular degeneration 81 test
  • Age-related macular degeneration 96 tests
  • Agenesis of cerebellar vermis1 test
  • Agenesis of the corpus callosum with peripheral neuropathy6 tests
  • Agnathia-otocephaly complex1 test
  • Aicardi Goutieres syndrome1 test
  • Aicardi Goutieres syndrome 18 tests
  • Aicardi Goutieres syndrome 25 tests
  • Aicardi Goutieres syndrome 37 tests
  • Aicardi Goutieres syndrome 47 tests
  • Aicardi Goutieres syndrome 57 tests
  • Aicardi syndrome1 test
  • Aicardi-Goutieres syndrome 69 tests
  • Aicardi-Goutieres syndrome 75 tests
  • Alagille syndrome 15 tests
  • Alagille syndrome 25 tests
  • Alazami syndrome1 test
  • Albinism, oculocutaneous, type VII3 tests
  • Alexander Disease5 tests
  • ALG1-CDG5 tests
  • ALG12-congenital disorder of glycosylation3 tests
  • ALG2-CDG4 tests
  • ALG3-CDG5 tests
  • ALG8-CDG3 tests
  • ALG9 congenital disorder of glycosylation4 tests
  • Alkaptonuria3 tests
  • Allan-Herndon-Dudley syndrome5 tests
  • Alopecia universalis congenita3 tests
  • Alopecia, neurologic defects, and endocrinopathy syndrome1 test
  • alpha Thalassemia11 tests
  • Alpha thalassemia-X-linked intellectual disability syndrome5 tests
  • Alpha-1-antitrypsin deficiency4 tests
  • Alpha-2-plasmin inhibitor deficiency2 tests
  • Alpha-B crystallinopathy9 tests
  • Alpha-fetoprotein deficiency1 test
  • Alpha-methylacyl-CoA racemase deficiency4 tests
  • Alpha-N-acetylgalactosaminidase deficiency type 15 tests
  • Alpha-N-acetylgalactosaminidase deficiency type 24 tests
  • Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity5 tests
  • Alport syndrome 1, X-linked recessive6 tests
  • Alport syndrome 3, autosomal dominant6 tests
  • Alport syndrome, autosomal recessive8 tests
  • Alstrom syndrome7 tests
  • Alternating hemiplegia of childhood 18 tests
  • Alternating hemiplegia of childhood 27 tests
  • Alveolar capillary dysplasia with pulmonary venous misalignment2 tests
  • Alveolar rhabdomyosarcoma5 tests
  • Alzheimer disease18 tests
  • Alzheimer disease 181 test
  • Alzheimer disease 24 tests
  • Alzheimer disease, type 38 tests
  • Alzheimer disease, type 48 tests
  • Alzheimer disease, type 92 tests
  • Amelocerebrohypohidrotic syndrome2 tests
  • Amelogenesis imperfecta - hypoplastic autosomal dominant - local1 test
  • Amelogenesis imperfecta, hypocalcification type1 test
  • Amelogenesis imperfecta, hypomaturation type IIA51 test
  • Amelogenesis imperfecta, hypomaturation type, IIA21 test
  • Amelogenesis imperfecta, type 1E1 test
  • Amelogenesis imperfecta, type IA3 tests
  • Amelogenesis imperfecta, type IC1 test
  • Amelogenesis imperfecta, type IV1 test
  • Aminoacylase 1 deficiency3 tests
  • Aminoglycoside-induced deafness4 tests
  • Amish lethal microcephaly5 tests
  • Amyloidogenic transthyretin amyloidosis11 tests
  • Amyloidosis, primary localized cutaneous, 21 test
  • Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia8 tests
  • Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia2 tests
  • Amyotrophic lateral sclerosis 16, juvenile5 tests
  • Amyotrophic lateral sclerosis 173 tests
  • Amyotrophic lateral sclerosis 182 tests
  • Amyotrophic lateral sclerosis 204 tests
  • Amyotrophic lateral sclerosis 214 tests
  • Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia3 tests
  • Amyotrophic lateral sclerosis and/or frontotemporal dementia 11 test
  • Amyotrophic lateral sclerosis type 19 tests
  • Amyotrophic lateral sclerosis type 102 tests
  • Amyotrophic lateral sclerosis type 118 tests
  • Amyotrophic lateral sclerosis type 122 tests
  • Amyotrophic lateral sclerosis type 2, juvenile4 tests
  • Amyotrophic lateral sclerosis type 47 tests
  • Amyotrophic lateral sclerosis type 55 tests
  • Amyotrophic lateral sclerosis type 84 tests
  • Amyotrophic lateral sclerosis type 92 tests
  • Amyotrophy, hereditary neuralgic5 tests
  • Analbuminemia1 test
  • Anauxetic dysplasia 14 tests
  • Andersen Tawil syndrome11 tests
  • Androgen resistance syndrome8 tests
  • Anemia without thromobocytopenia, X-linked8 tests
  • Anemia, hypochromic microcytic, with iron overload 11 test
  • Anemia, nonspherocytic hemolytic, due to G6PD deficiency9 tests
  • Anemia, sideroblastic, 15 tests
  • Anemia, sideroblastic, 2, pyridoxine-refractory2 tests
  • Anemia, sideroblastic, 41 test
  • Aneurysm, intracranial berry, 121 test
  • Angelman syndrome5 tests
  • Angioedema, hereditary, 51 test
  • Angiokeratoma corporis diffusum14 tests
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps12 tests
  • Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome4 tests
  • Aniridia 122 tests
  • Anonychia1 test
  • Anophthalmia/microphthalmia-esophageal atresia syndrome8 tests
  • Anterior segment dysgenesis 15 tests
  • Anterior segment dysgenesis 38 tests
  • Anterior segment dysgenesis 46 tests
  • Anterior segment dysgenesis 65 tests
  • Anterior segment dysgenesis 74 tests
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis6 tests
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis18 tests
  • Anxiety1 test
  • Aortic aneurysm, familial thoracic 11, susceptibility to5 tests
  • Aortic aneurysm, familial thoracic 43 tests
  • Aortic aneurysm, familial thoracic 67 tests
  • Aortic aneurysm, familial thoracic 71 test
  • Aortic aneurysm, familial thoracic 81 test
  • Aortic valve disease 16 tests
  • Aortic valve disease 22 tests
  • Aplastic anemia21 tests
  • Apolipoprotein C2 deficiency3 tests
  • Apparent mineralocorticoid excess2 tests
  • Arboleda-Tham syndrome2 tests
  • Arginase deficiency3 tests
  • Arginine:glycine amidinotransferase deficiency1 test
  • Argininosuccinate lyase deficiency2 tests
  • Aromatase deficiency5 tests
  • Aromatase excess syndrome5 tests
  • Arrhinia with choanal atresia and microphthalmia syndrome4 tests
  • Arrhythmogenic right ventricular cardiomyopathy1 test
  • Arrhythmogenic right ventricular cardiomyopathy, type 107 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 116 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 126 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 57 tests
  • Arrhythmogenic right ventricular dysplasia 85 tests
  • Arrhythmogenic right ventricular dysplasia 96 tests
  • Arrhythmogenic right ventricular dysplasia, familial 16 tests
  • Arrhythmogenic right ventricular dysplasia, familial, 134 tests
  • Arrhythmogenic right ventricular dysplasia, familial, 28 tests
  • Arterial calcification, generalized, of infancy, 13 tests
  • Arterial tortuosity syndrome1 test
  • Arthrogryposis multiplex congenita2 tests
  • Arthrogryposis multiplex congenita, neurogenic, with myelin defect2 tests
  • Arthrogryposis, distal, type 2B14 tests
  • Arthrogryposis, distal, type 2B22 tests
  • Arthrogryposis, distal, with impaired proprioception and touch5 tests
  • Arthrogryposis, mental retardation, and seizures3 tests
  • Arthrogryposis, perthes disease, and upward gaze palsy2 tests
  • Arthrogryposis, renal dysfunction, and cholestasis 19 tests
  • Arthrogryposis, renal dysfunction, and cholestasis 28 tests
  • Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome5 tests
  • Arts syndrome7 tests
  • Ashkenazi Jewish disorders1 test
  • Asparagine synthetase deficiency2 tests
  • Aspartylglucosaminuria4 tests
  • Asperger syndrome X-linked 12 tests
  • Asperger syndrome X-linked 23 tests
  • Aspergillosis, susceptibility to2 tests
  • Asphyxiating thoracic dystrophy 25 tests
  • Asphyxiating thoracic dystrophy 410 tests
  • Asplenia, isolated congenital1 test
  • Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus3 tests
  • Ataxia, sensory, autosomal dominant1 test
  • Ataxia, spastic, 1, autosomal dominant4 tests
  • Ataxia, spastic, 2, autosomal recessive2 tests
  • Ataxia, spastic, 3, autosomal recessive5 tests
  • Ataxia, spastic, 4, autosomal recessive4 tests
  • Ataxia-hypogonadism-choroidal dystrophy syndrome8 tests
  • Ataxia-oculomotor apraxia 32 tests
  • Ataxia-oculomotor apraxia 48 tests
  • Ataxia-oculomotor apraxia type 19 tests
  • Ataxia-pancytopenia syndrome2 tests
  • Ataxia-telangiectasia syndrome14 tests
  • Ataxia-telangiectasia-like disorder2 tests
  • Ataxia-telangiectasia-like disorder 11 test
  • Ataxia-telangiectasia-like disorder 21 test
  • Ateleiotic dwarfism4 tests
  • Atelosteogenesis type 15 tests
  • Atelosteogenesis type II7 tests
  • Atelosteogenesis type III5 tests
  • Atrial fibrillation, familial, 1011 tests
  • Atrial fibrillation, familial, 111 test
  • Atrial fibrillation, familial, 125 tests
  • Atrial fibrillation, familial, 137 tests
  • Atrial fibrillation, familial, 141 test
  • Atrial fibrillation, familial, 314 tests
  • Atrial fibrillation, familial, 46 tests
  • Atrial fibrillation, familial, 63 tests
  • Atrial fibrillation, familial, 71 test
  • Atrial fibrillation, familial, 911 tests
  • Atrial septal defect 23 tests
  • Atrial septal defect 37 tests
  • Atrial septal defect 56 tests
  • Atrial septal defect 7 with or without atrioventricular conduction defects5 tests
  • Atrial septal defect 93 tests
  • Atrial standstill 11 test
  • Atrial standstill 23 tests
  • Atrichia with papular lesions3 tests
  • Atrioventricular septal defect 22 tests
  • Atrioventricular septal defect 35 tests
  • Atrioventricular septal defect 43 tests
  • Atrioventricular septal defect 53 tests
  • Atrophia bulborum hereditaria7 tests
  • Attention deficit hyperactivity disorder2 tests
  • Atypical chronic myeloid leukemia1 test
  • Atypical hemolytic-uremic syndrome 18 tests
  • Atypical hemolytic-uremic syndrome 24 tests
  • Atypical hemolytic-uremic syndrome 34 tests
  • Atypical hemolytic-uremic syndrome 45 tests
  • Atypical hemolytic-uremic syndrome 56 tests
  • Atypical hemolytic-uremic syndrome 65 tests
  • Atypical mycobacteriosis, familial, X-linked 23 tests
  • Atypical Rett syndrome1 test
  • AU-KLINE SYNDROME1 test
  • Auditory neuropathy, autosomal dominant, 11 test
  • Auriculocondylar syndrome 11 test
  • Auriculocondylar syndrome 21 test
  • Auriculocondylar syndrome 31 test
  • Autism 154 tests
  • Autism 161 test
  • Autism 172 tests
  • Autism 52 tests
  • Autism spectrum disorder3 tests
  • Autism, susceptibility to, 183 tests
  • Autism, susceptibility to, X-linked 12 tests
  • Autism, susceptibility to, X-linked 23 tests
  • Autism, susceptibility to, X-linked 36 tests
  • Autism, susceptibility to, X-linked 41 test
  • Autism, susceptibility to, X-linked 53 tests
  • Autistic disorder2 tests
  • Autoimmune disease 61 test
  • Autoimmune disease, multisystem, infantile-onset, 18 tests
  • Autoimmune disease, multisystem, infantile-onset, 26 tests
  • Autoimmune disease, syndromic multisystem1 test
  • Autoimmune interstitial lung, joint, and kidney disease2 tests
  • Autoimmune lymphoproliferative syndrome type 15 tests
  • Autoimmune lymphoproliferative syndrome type 2B4 tests
  • Autoimmune lymphoproliferative syndrome type V4 tests
  • Autoimmune lymphoproliferative syndrome, type 2A4 tests
  • Autoimmune lymphoproliferative syndrome, type III2 tests
  • Autoimmune thyroid disease 33 tests
  • Autoinflammation with arthritis and dyskeratosis2 tests
  • Autoinflammation with infantile enterocolitis2 tests
  • Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated3 tests
  • Autoinflammation, panniculitis, and dermatosis syndrome2 tests
  • Autoinflammatory syndrome, familial, Behcet-like3 tests
  • Autosomal chromosomal disorder3 tests
  • Autosomal dominant distal renal tubular acidosis4 tests
  • Autosomal dominant hypophosphatemic rickets4 tests
  • Autosomal dominant isolated somatotropin deficiency4 tests
  • Autosomal dominant macrothrombocytopenia TUBB1-related2 tests
  • Autosomal dominant medullary cystic kidney disease with hyperuricemia5 tests
  • Autosomal dominant nonsyndromic deafness 179 tests
  • Autosomal dominant nonsyndromic deafness 225 tests
  • Autosomal dominant nonsyndromic deafness 2A1 test
  • Autosomal dominant nonsyndromic deafness 66 tests
  • Autosomal dominant optic atrophy classic form10 tests
  • Autosomal dominant osteopetrosis 19 tests
  • Autosomal dominant osteopetrosis 24 tests
  • autosomal dominant palmoplantar keratoderma and congenital alopecia5 tests
  • Autosomal dominant polycystic kidney disease1 test
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 118 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 29 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 310 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 46 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 59 tests
  • Autosomal dominant pseudohypoaldosteronism type 14 tests
  • Autosomal dominant torsion dystonia 46 tests
  • Autosomal recessive agammaglobulinemia 11 test
  • Autosomal recessive axonal neuropathy with neuromyotonia4 tests
  • Autosomal recessive congenital ichthyosis 12 tests
  • Autosomal recessive congenital ichthyosis 102 tests
  • Autosomal recessive congenital ichthyosis 25 tests
  • Autosomal recessive congenital ichthyosis 34 tests
  • Autosomal recessive congenital ichthyosis 4A3 tests
  • Autosomal recessive congenital ichthyosis 4B3 tests
  • Autosomal recessive congenital ichthyosis 53 tests
  • Autosomal recessive congenital ichthyosis 62 tests
  • Autosomal recessive congenital ichthyosis 82 tests
  • Autosomal recessive congenital ichthyosis 91 test
  • Autosomal recessive cutis laxa type 1B2 tests
  • Autosomal recessive cutis laxa type 2B2 tests
  • Autosomal recessive cutis laxa type 3B2 tests
  • Autosomal recessive cutis laxa type IA5 tests
  • Autosomal recessive DOPA responsive dystonia4 tests
  • Autosomal recessive hypophosphatemic bone disease4 tests
  • Autosomal recessive hypophosphatemic vitamin D refractory rickets2 tests
  • Autosomal recessive Kenny-Caffey syndrome6 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2B9 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2D6 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2E8 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2F9 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2G12 tests
  • Autosomal recessive multiple pterygium syndrome10 tests
  • Autosomal recessive osteopetrosis 14 tests
  • Autosomal recessive osteopetrosis 23 tests
  • Autosomal recessive osteopetrosis 44 tests
  • Autosomal recessive osteopetrosis 63 tests
  • Autosomal recessive osteopetrosis 75 tests
  • Autosomal recessive polycystic kidney disease10 tests
  • Autosomal recessive pseudohypoaldosteronism type 17 tests
  • Autosomal recessive woolly hair 31 test
  • Avascular necrosis of femoral head, primary, 118 tests
  • Avascular necrosis of femoral head, primary, 29 tests
  • Avascular necrosis of the capital femoral epiphysis18 tests
  • Avellino corneal dystrophy2 tests
  • Axenfeld-Rieger syndrome type 16 tests
  • Axenfeld-Rieger syndrome type 38 tests
  • Axial spondylometaphyseal dysplasia1 test
  • Ayme-gripp syndrome2 tests
  • Azorean disease1 test
  • B-cell expansion with NFKB and T-cell anergy2 tests
  • B4GALT1-CDG2 tests
  • Bacteremia, susceptibility to, 11 test
  • Bailey-Bloch congenital myopathy4 tests
  • Bainbridge-Ropers syndrome2 tests
  • Baller-Gerold syndrome5 tests
  • Bamforth-Lazarus syndrome1 test
  • Band heterotopia1 test
  • Baraitser-Winter syndrome 17 tests
  • Baraitser-Winter Syndrome 23 tests
  • Barber-Say syndrome2 tests
  • Bardet-Biedl syndrome1 test
  • Bardet-Biedl syndrome 112 tests
  • Bardet-Biedl syndrome 1010 tests
  • Bardet-Biedl syndrome 1111 tests
  • Bardet-Biedl syndrome 129 tests
  • Bardet-Biedl syndrome 1312 tests
  • Bardet-Biedl syndrome 1415 tests
  • Bardet-Biedl syndrome 156 tests
  • Bardet-Biedl syndrome 168 tests
  • Bardet-Biedl syndrome 175 tests
  • Bardet-Biedl syndrome 182 tests
  • Bardet-Biedl syndrome 193 tests
  • Bardet-Biedl syndrome 28 tests
  • Bardet-Biedl syndrome 212 tests
  • Bardet-Biedl syndrome 221 test
  • Bardet-Biedl syndrome 39 tests
  • Bardet-Biedl syndrome 49 tests
  • Bardet-Biedl syndrome 58 tests
  • Bardet-Biedl syndrome 76 tests
  • Bardet-Biedl syndrome 89 tests
  • Bardet-Biedl syndrome 99 tests
  • Bare lymphocyte syndrome 25 tests
  • Bare lymphocyte syndrome type 12 tests
  • Barrett esophagus2 tests
  • Bartsocas-Papas syndrome4 tests
  • Bartter disease type 4a5 tests
  • Bartter syndrome type 33 tests
  • Bartter syndrome, type 1, antenatal1 test
  • Bartter syndrome, type 2, antenatal1 test
  • Bartter syndrome, type 4b4 tests
  • Basal cell carcinoma, susceptibility to, 112 tests
  • Basal cell carcinoma, susceptibility to, 710 tests
  • Basal ganglia calcification, idiopathic, 43 tests
  • Basal laminar drusen6 tests
  • Basan syndrome1 test
  • Basel-Vanagaite-Smirin-Yosef syndrome6 tests
  • Beaded hair1 test
  • Beare-Stevenson cutis gyrata syndrome15 tests
  • Becker muscular dystrophy9 tests
  • Beckwith-Wiedemann syndrome25 tests
  • Behavior disorder1 test
  • Benign familial hematuria8 tests
  • Benign familial neonatal seizures 14 tests
  • Benign familial neonatal seizures 25 tests
  • Benign hereditary chorea6 tests
  • Benign recurrent intrahepatic cholestasis type 24 tests
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy22 tests
  • Bent bone dysplasia syndrome15 tests
  • Bernard Soulier syndrome10 tests
  • Bernard-Soulier syndrome, type A2, autosomal dominant7 tests
  • Bestrophinopathy, autosomal recessive9 tests
  • beta Thalassemia8 tests
  • Beta-D-mannosidosis3 tests
  • Beta-hydroxyisobutyryl-CoA deacylase deficiency4 tests
  • Beta-thalassemia, dominant inclusion body type8 tests
  • Bethlem myopathy 112 tests
  • Bethlem myopathy 24 tests
  • BH4-deficient hyperphenylalaninemia A3 tests
  • Bietti crystalline corneoretinal dystrophy3 tests
  • Bifunctional peroxisomal enzyme deficiency7 tests
  • Bilateral right-sidedness sequence3 tests
  • Bile acid malabsorption, primary2 tests
  • Bile acid synthesis defect, congenital, 34 tests
  • Bile acid synthesis defect, congenital, 52 tests
  • Biotin-responsive basal ganglia disease7 tests
  • Biotinidase deficiency6 tests
  • Blau syndrome3 tests
  • Bleeding disorder, platelet-type, 213 tests
  • Blepharocheilodontic syndrome 21 test
  • Blepharophimosis - intellectual disability syndrome, SBBYS type3 tests
  • Blepharophimosis, ptosis, and epicanthus inversus3 tests
  • Blepharospasm1 test
  • Bloom syndrome10 tests
  • BNAR syndrome6 tests
  • Body mass index quantitative trait locus 122 tests
  • Body mass index quantitative trait locus 141 test
  • Body mass index quantitative trait locus 181 test
  • BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 202 tests
  • Body mass index quantitative trait locus 41 test
  • Body mass index quantitative trait locus 92 tests
  • Bohring-Opitz syndrome5 tests
  • Bone marrow failure syndrome 13 tests
  • Bone marrow failure syndrome 22 tests
  • Bone marrow failure syndrome 32 tests
  • Bone marrow failure syndrome 42 tests
  • Bone mineral density quantitative trait locus 19 tests
  • Bone mineral density quantitative trait locus 181 test
  • Bone osteosarcoma17 tests
  • Boomerang dysplasia5 tests
  • Borjeson-Forssman-Lehmann syndrome2 tests
  • Bosch-Boonstra-Schaaf optic atrophy syndrome2 tests
  • Bothnia retinal dystrophy5 tests
  • Brachydactyly type A14 tests
  • Brachydactyly type A28 tests
  • Brachydactyly type B15 tests
  • Brachydactyly type B22 tests
  • Brachydactyly type C4 tests
  • Brachydactyly type E12 tests
  • Brachydactyly type E21 test
  • Brachydactyly, type a1, c4 tests
  • Brachydactyly, type a1, d3 tests
  • Brachydactyly-arterial hypertension syndrome3 tests
  • Brachydactyly-syndactyly syndrome2 tests
  • Brachyrachia (short spine dysplasia)9 tests
  • Bradyopsia3 tests
  • Brain abnormalities, neurodegeneration, and dysosteosclerosis1 test
  • Brain small vessel disease 1 with or without ocular anomalies12 tests
  • Branched-chain keto acid dehydrogenase kinase deficiency1 test
  • Branchiooculofacial syndrome5 tests
  • Branchiootic syndrome 16 tests
  • Branchiootic syndrome 37 tests
  • Branchiootorenal Syndrome 19 tests
  • Branchiootorenal syndrome 26 tests
  • Breast-ovarian cancer, familial 110 tests
  • Breast-ovarian cancer, familial 211 tests
  • Breast-ovarian cancer, familial 37 tests
  • Breast-ovarian cancer, familial 43 tests
  • Breasts and/or nipples, aplasia or hypoplasia of, 21 test
  • Brittle cornea syndrome 12 tests
  • Brittle cornea syndrome 21 test
  • Brody myopathy3 tests
  • Bronchiectasis with or without elevated sweat chloride 113 tests
  • Bronchiectasis with or without elevated sweat chloride 25 tests
  • Bronchiectasis with or without elevated sweat chloride 34 tests
  • Brooke-Spiegler syndrome3 tests
  • Brown-Vialetto-Van Laere syndrome 18 tests
  • Brown-Vialetto-Van Laere syndrome 26 tests
  • Bruck syndrome 15 tests
  • Bruck syndrome 23 tests
  • Brugada syndrome1 test
  • Brugada syndrome 111 tests
  • Brugada syndrome 24 tests
  • Brugada syndrome 39 tests
  • Brugada syndrome 45 tests
  • Brugada syndrome 57 tests
  • Brugada syndrome 66 tests
  • Brugada syndrome 74 tests
  • Brugada syndrome 86 tests
  • Brugada syndrome 96 tests
  • Brunner syndrome2 tests
  • Budd-Chiari syndrome9 tests
  • Bullous ichthyosiform erythroderma5 tests
  • Burkitt lymphoma2 tests
  • Burn-McKeown syndrome2 tests
  • C syndrome2 tests
  • Café-au-lait macules with pulmonary stenosis9 tests
  • Calcium oxalate nephrolithiasis1 test
  • Camptodactyly-arthropathy-coxa vara-pericarditis syndrome2 tests
  • Camptodactyly-tall stature-scoliosis-hearing loss syndrome11 tests
  • Camptomelic dysplasia8 tests
  • Camptosynpolydactyly, complex3 tests
  • Cancer of cervix11 tests
  • Candidiasis, familial, 23 tests
  • Candidiasis, familial, 63 tests
  • Candidiasis, familial, 83 tests
  • Candidiasis, familial, 91 test
  • Capillary malformation4 tests
  • Capillary malformation-arteriovenous malformation 13 tests
  • Capillary malformation-arteriovenous malformation 21 test
  • CARASIL syndrome6 tests
  • Carbonic anhydrase VA deficiency, hyperammonemia due to4 tests
  • Carcinoma of pancreas26 tests
  • Cardiac arrhythmia, ankyrin B-related7 tests
  • Cardiac conduction disease with or without dilated cardiomyopathy2 tests
  • Cardiac valvular defect, developmental1 test
  • Cardiac valvular dysplasia, X-linked9 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency7 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 23 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 33 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 41 test
  • Cardiofaciocutaneous syndrome 18 tests
  • Cardiofaciocutaneous syndrome 27 tests
  • Cardiofaciocutaneous syndrome 36 tests
  • Cardiofaciocutaneous syndrome 46 tests
  • Cardiomyopathy3 tests
  • Cardiomyopathy, dilated, 1NN8 tests
  • Cardiomyopathy, dilated, 1u8 tests
  • Cardiomyopathy, dilated, 2b3 tests
  • Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis5 tests
  • Cardiomyopathy, familial hypertrophic, 267 tests
  • Cardiospondylocarpofacial syndrome1 test
  • Carney complex variant5 tests
  • Carney complex, type 16 tests
  • Carney-Stratakis syndrome16 tests
  • Carnitine acylcarnitine translocase deficiency3 tests
  • Carnitine palmitoyltransferase 1A deficiency7 tests
  • Carnitine palmitoyltransferase I deficiency , muscle1 test
  • Carnitine palmitoyltransferase II deficiency, infantile9 tests
  • Carnitine palmitoyltransferase II deficiency, lethal neonatal9 tests
  • Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced9 tests
  • Carotid intimal medial thickness 12 tests
  • Carpal tunnel syndrome11 tests
  • Carpenter syndrome 14 tests
  • Carpenter syndrome 25 tests
  • Cataract2 tests
  • Cataract 13 tests
  • Cataract 115 tests
  • Cataract 12, multiple types3 tests
  • Cataract 13 with adult i phenotype3 tests
  • Cataract 15, multiple types2 tests
  • Cataract 16, multiple types9 tests
  • Cataract 183 tests
  • Cataract 19, multiple types2 tests
  • Cataract 2, multiple types2 tests
  • Cataract 20 multiple types2 tests
  • Cataract 21, multiple types2 tests
  • Cataract 23, multiple types3 tests
  • Cataract 3, multiple types2 tests
  • Cataract 302 tests
  • Cataract 31 multiple types2 tests
  • Cataract 33, multiple types3 tests
  • Cataract 34, multiple types5 tests
  • Cataract 43 tests
  • Cataract 405 tests
  • Cataract 416 tests
  • Cataract 442 tests
  • Cataract 453 tests
  • Cataract 5 multiple types3 tests
  • Cataract 6, multiple types2 tests
  • Cataract 9, multiple types3 tests
  • Cataract, autosomal recessive congenital 43 tests
  • Cataract, autosomal recessive congenital 55 tests
  • Cataract, congenital nuclear, autosomal recessive 24 tests
  • Cataract, congenital nuclear, autosomal recessive 33 tests
  • Cataract, congenital zonular, with sutural opacities2 tests
  • Cataract-intellectual disability-hypogonadism syndrome5 tests
  • Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia3 tests
  • Catecholaminergic polymorphic ventricular tachycardia type 111 tests
  • Catel Manzke syndrome1 test
  • Caudal regression sequence2 tests
  • CCDC115-CDG1 test
  • CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy2 tests
  • Cd8 deficiency, familial1 test
  • CEDNIK syndrome3 tests
  • Celiac disease 34 tests
  • Celiac disease 41 test
  • Cellular mosaicism1 test
  • Cenani-Lenz syndactyly syndrome2 tests
  • Central core myopathy10 tests
  • Cerebellar ataxia, Cayman type1 test
  • Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant4 tests
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 12 tests
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 21 test
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 31 test
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 42 tests
  • Cerebellar ataxia, nonprogressive, with mental retardation1 test
  • Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome7 tests
  • Cerebellar atrophy, visual impairment, and psychomotor retardation1 test
  • Cerebellofaciodental syndrome1 test
  • Cerebral amyloid angiopathy, APP-related6 tests
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 26 tests
  • Cerebral arteriovenous malformation7 tests
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 17 tests
  • Cerebral cavernous malformation4 tests
  • Cerebral cavernous malformations 23 tests
  • Cerebral cavernous malformations 33 tests
  • Cerebral folate transport deficiency6 tests
  • Cerebral palsy, spastic quadriplegic, 11 test
  • Cerebral palsy, spastic quadriplegic, 22 tests
  • Cerebro facio thoracic dysplasia1 test
  • Cerebro-costo-mandibular syndrome2 tests
  • Cerebrooculofacioskeletal syndrome 112 tests
  • Cerebrooculofacioskeletal syndrome 28 tests
  • Cerebrooculofacioskeletal syndrome 34 tests
  • Cerebrooculofacioskeletal syndrome 42 tests
  • Cerebroretinal microangiopathy with calcifications and cysts 16 tests
  • Cerebroretinal microangiopathy with calcifications and cysts 21 test
  • Ceroid lipofuscinosis neuronal 26 tests
  • Ceroid lipofuscinosis, neuronal, 115 tests
  • Ceroid lipofuscinosis, neuronal, 131 test
  • Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant7 tests
  • CFHR5 deficiency5 tests
  • Char syndrome2 tests
  • Charcot-Marie-Tooth disease1 test
  • Charcot-Marie-Tooth disease and deafness5 tests
  • Charcot-Marie-Tooth disease axonal type 2C9 tests
  • Charcot-Marie-Tooth disease axonal type 2F6 tests
  • Charcot-Marie-Tooth disease axonal type 2K7 tests
  • Charcot-Marie-Tooth disease dominant intermediate d6 tests
  • Charcot-Marie-Tooth disease type 2B4 tests
  • Charcot-Marie-Tooth disease type 2B122 tests
  • Charcot-Marie-Tooth disease type 2B26 tests
  • Charcot-Marie-Tooth disease type 2D2 tests
  • Charcot-Marie-Tooth disease type 2E7 tests
  • Charcot-Marie-Tooth disease type 2I6 tests
  • Charcot-Marie-Tooth disease type 2J6 tests
  • Charcot-Marie-Tooth disease type 2P3 tests
  • Charcot-Marie-Tooth disease, axonal type 2V5 tests
  • Charcot-Marie-Tooth disease, axonal type 2X5 tests
  • Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B9 tests
  • Charcot-Marie-Tooth disease, axonal, type 2CC5 tests
  • Charcot-marie-tooth disease, axonal, type 2DD2 tests
  • Charcot-Marie-Tooth disease, axonal, type 2O6 tests
  • Charcot-Marie-Tooth disease, axonal, type 2Q3 tests
  • Charcot-Marie-Tooth disease, axonal, type 2R3 tests
  • Charcot-Marie-Tooth disease, axonal, type 2S8 tests
  • Charcot-Marie-Tooth disease, axonal, type 2T3 tests
  • Charcot-Marie-Tooth disease, axonal, type 2u2 tests
  • Charcot-Marie-Tooth disease, axonal, type 2w4 tests
  • Charcot-Marie-Tooth disease, axonal, type 2y8 tests
  • Charcot-Marie-Tooth disease, axonal, type 2z3 tests
  • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive7 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 1b6 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 1d6 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 1f7 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 1G2 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 4F5 tests
  • Charcot-Marie-Tooth disease, dominant intermediate B9 tests
  • Charcot-Marie-Tooth disease, dominant intermediate C3 tests
  • Charcot-Marie-Tooth disease, dominant intermediate E8 tests
  • Charcot-Marie-Tooth disease, dominant intermediate F4 tests
  • Charcot-Marie-Tooth disease, recessive intermediate A7 tests
  • Charcot-Marie-Tooth disease, recessive intermediate B2 tests
  • Charcot-Marie-Tooth disease, recessive intermediate c5 tests
  • Charcot-Marie-Tooth disease, recessive intermediate d5 tests
  • Charcot-Marie-Tooth disease, type 1C4 tests
  • Charcot-Marie-Tooth disease, type 2A14 tests
  • Charcot-Marie-Tooth disease, type 2A2A9 tests
  • Charcot-Marie-Tooth disease, type 2L7 tests
  • Charcot-Marie-Tooth disease, type 2N5 tests
  • Charcot-Marie-Tooth disease, type 4A7 tests
  • Charcot-Marie-Tooth disease, type 4B15 tests
  • Charcot-Marie-Tooth disease, type 4B26 tests
  • Charcot-Marie-Tooth disease, type 4B34 tests
  • Charcot-Marie-Tooth disease, type 4C5 tests
  • Charcot-Marie-Tooth disease, type 4D4 tests
  • Charcot-Marie-Tooth disease, type 4H5 tests
  • Charcot-Marie-Tooth disease, type 4J8 tests
  • Charcot-Marie-Tooth disease, type 4k5 tests
  • Charcot-Marie-Tooth disease, type IA5 tests
  • Charcot-Marie-Tooth disease, X-linked dominant, 62 tests
  • Charcot-Marie-Tooth disease, X-linked recessive, type 57 tests
  • Charcot-Marie-Tooth Neuropathy X Type 15 tests
  • CHARGE association12 tests
  • Charlevoix-Saguenay spastic ataxia8 tests
  • Chilblain lupus 18 tests
  • Chilblain lupus 27 tests
  • Child syndrome5 tests
  • Childhood hypophosphatasia7 tests
  • Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia6 tests
  • CHIME syndrome3 tests
  • Chitayat syndrome2 tests
  • Chitotriosidase deficiency1 test
  • Choanal atresia and lymphedema1 test
  • Cholangiocarcinoma1 test
  • Cholestanol storage disease13 tests
  • Cholestasis1 test
  • Cholestasis, benign recurrent intrahepatic 14 tests
  • Cholestasis, intrahepatic, of pregnancy 34 tests
  • Cholestasis, intrahepatic, of pregnancy, 14 tests
  • Cholestasis, progressive familial intrahepatic 14 tests
  • Cholestasis, progressive familial intrahepatic, 52 tests
  • Cholesterol monooxygenase (side-chain cleaving) deficiency5 tests
  • Chondrocalcinosis 22 tests
  • Chondrodysplasia Blomstrand type1 test
  • Chondrodysplasia punctata 2 X-linked dominant6 tests
  • Chondrodysplasia with joint dislocations, GPAPP type2 tests
  • Chondrosarcoma5 tests
  • Choreoacanthocytosis5 tests
  • Choreoathetosis, hypothyroidism, and neonatal respiratory distress6 tests
  • Choroid plexus papilloma10 tests
  • Choroidal dystrophy, central areolar 16 tests
  • Choroidal dystrophy, central areolar 212 tests
  • Choroideremia4 tests
  • Christianson syndrome4 tests
  • Chromosome 1p36 deletion syndrome1 test
  • Chromosome 1q21.1 duplication syndrome1 test
  • Chromosome 2q32-q33 deletion syndrome3 tests
  • Chromosome 2q37 deletion syndrome2 tests
  • Chromosome Xq28 deletion syndrome3 tests
  • Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 12 tests
  • Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 23 tests
  • Chronic granulomatous disease, X-linked3 tests
  • Chronic infantile neurological, cutaneous and articular syndrome5 tests
  • Chronic lymphatic leukemia11 tests
  • Chronic myelogenous leukemia, BCR-ABL1 positive7 tests
  • Chronic pulmonary obstruction2 tests
  • Chudley-McCullough syndrome1 test
  • Chédiak-Higashi syndrome11 tests
  • Ciliary dyskinesia, primary, 101 test
  • Ciliary dyskinesia, primary, 112 tests
  • Ciliary dyskinesia, primary, 123 tests
  • Ciliary dyskinesia, primary, 132 tests
  • Ciliary dyskinesia, primary, 142 tests
  • Ciliary dyskinesia, primary, 152 tests
  • Ciliary dyskinesia, primary, 162 tests
  • Ciliary dyskinesia, primary, 172 tests
  • Ciliary dyskinesia, primary, 182 tests
  • Ciliary dyskinesia, primary, 192 tests
  • Ciliary dyskinesia, primary, 22 tests
  • Ciliary dyskinesia, primary, 202 tests
  • Ciliary dyskinesia, primary, 211 test
  • Ciliary dyskinesia, primary, 221 test
  • Ciliary dyskinesia, primary, 271 test
  • Ciliary dyskinesia, primary, 281 test
  • Ciliary dyskinesia, primary, 291 test
  • Ciliary dyskinesia, primary, 33 tests
  • Ciliary dyskinesia, primary, 301 test
  • Ciliary dyskinesia, primary, 321 test
  • Ciliary dyskinesia, primary, 331 test
  • Ciliary dyskinesia, primary, 341 test
  • Ciliary dyskinesia, primary, 52 tests
  • Ciliary dyskinesia, primary, 62 tests
  • Ciliary dyskinesia, primary, 72 tests
  • Ciliary dyskinesia, primary, 92 tests
  • Ciliopathy1 test
  • Citrullinemia type I3 tests
  • Citrullinemia type II3 tests
  • CK syndrome5 tests
  • Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency4 tests
  • Classic Hodgkin lymphoma1 test
  • Classic homocystinuria1 test
  • Cleft lip/palate-ectodermal dysplasia syndrome2 tests
  • Cleft palate with or without ankyloglossia, X-linked1 test
  • Cleft palate, cardiac defects, and mental retardation1 test
  • Cleft palate, psychomotor retardation, and distinctive facial features1 test
  • Cleidocranial dysostosis4 tests
  • COACH syndrome 117 tests
  • Cobalamin C disease7 tests
  • Cockayne syndrome B12 tests
  • Cockayne syndrome type A9 tests
  • CODAS syndrome4 tests
  • Coenzyme Q10 deficiency, primary1 test
  • Coenzyme Q10 deficiency, primary 18 tests
  • Coenzyme Q10 deficiency, primary, 23 tests
  • Coenzyme Q10 deficiency, primary, 36 tests
  • Coenzyme Q10 deficiency, primary, 43 tests
  • Coenzyme Q10 deficiency, primary, 54 tests
  • Coenzyme Q10 deficiency, primary, 65 tests
  • Coenzyme Q10 deficiency, primary, 72 tests
  • Coenzyme Q10 deficiency, primary, 81 test
  • Coffin-Lowry syndrome2 tests
  • Coffin-Siris syndrome 13 tests
  • Coffin-Siris syndrome 51 test
  • COG1 congenital disorder of glycosylation3 tests
  • COG7 congenital disorder of glycosylation3 tests
  • Cognitive impairment with or without cerebellar ataxia4 tests
  • Cohen syndrome9 tests
  • Cohen-Gibson syndrome1 test
  • Cold-induced sweating syndrome 11 test
  • Cold-induced sweating syndrome 21 test
  • Cole disease3 tests
  • Cole-Carpenter syndrome 12 tests
  • Cole-Carpenter syndrome 21 test
  • Coloboma of optic nerve (disease)9 tests
  • Coloboma, ocular, autosomal dominant9 tests
  • Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation1 test
  • Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness3 tests
  • Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome1 test
  • Colorectal cancer54 tests
  • Colorectal cancer 12 tests
  • Colorectal cancer 103 tests
  • Colorectal cancer, susceptibility to, 123 tests
  • Combined cellular and humoral immune defects with granulomas8 tests
  • Combined deficiency of factor V and factor VIII, 12 tests
  • Combined deficiency of sialidase AND beta galactosidase3 tests
  • Combined immunodeficiency due to GINS1 deficiency2 tests
  • Combined immunodeficiency due to ORAI1 deficiency3 tests
  • Combined immunodeficiency due to STIM1 deficiency5 tests
  • Combined immunodeficiency due to ZAP70 deficiency6 tests
  • Combined immunodeficiency, X-linked3 tests
  • Combined malonic and methylmalonic aciduria3 tests
  • Combined oxidative phosphorylation deficiency 12 tests
  • Combined oxidative phosphorylation deficiency 101 test
  • Combined oxidative phosphorylation deficiency 112 tests
  • Combined oxidative phosphorylation deficiency 124 tests
  • Combined oxidative phosphorylation deficiency 132 tests
  • Combined oxidative phosphorylation deficiency 143 tests
  • Combined oxidative phosphorylation deficiency 155 tests
  • Combined oxidative phosphorylation deficiency 161 test
  • Combined oxidative phosphorylation deficiency 174 tests
  • Combined oxidative phosphorylation deficiency 181 test
  • Combined oxidative phosphorylation deficiency 22 tests
  • Combined oxidative phosphorylation deficiency 201 test
  • Combined oxidative phosphorylation deficiency 211 test
  • Combined oxidative phosphorylation deficiency 231 test
  • Combined oxidative phosphorylation deficiency 241 test
  • Combined oxidative phosphorylation deficiency 255 tests
  • Combined oxidative phosphorylation deficiency 262 tests
  • Combined oxidative phosphorylation deficiency 271 test
  • Combined oxidative phosphorylation deficiency 282 tests
  • Combined oxidative phosphorylation deficiency 36 tests
  • Combined oxidative phosphorylation deficiency 301 test
  • Combined oxidative phosphorylation deficiency 311 test
  • Combined oxidative phosphorylation deficiency 45 tests
  • Combined oxidative phosphorylation deficiency 54 tests
  • Combined oxidative phosphorylation deficiency 65 tests
  • Combined oxidative phosphorylation deficiency 74 tests
  • Combined oxidative phosphorylation deficiency 83 tests
  • Combined oxidative phosphorylation deficiency 94 tests
  • Combined saposin deficiency6 tests
  • Common variable immunodeficiency 14 tests
  • Common variable immunodeficiency 104 tests
  • Common variable immunodeficiency 114 tests
  • Common variable immunodeficiency 29 tests
  • Common variable immunodeficiency 32 tests
  • Common variable immunodeficiency 43 tests
  • Common variable immunodeficiency 52 tests
  • Common variable immunodeficiency 62 tests
  • Common variable immunodeficiency 73 tests
  • Common variable immunodeficiency 8, with autoimmunity5 tests
  • Complement component 2 deficiency2 tests
  • Complement component 3 deficiency, autosomal recessive5 tests
  • Complement component 4, partial deficiency of2 tests
  • Complement component 4b deficiency1 test
  • Complement component 5 deficiency1 test
  • Complement factor B deficiency5 tests
  • Complete trisomy 13 syndrome3 tests
  • Complete trisomy 18 syndrome4 tests
  • Complete trisomy 21 syndrome13 tests
  • Cone dystrophy 34 tests
  • Cone dystrophy 44 tests
  • Cone dystrophy with supernormal rod response4 tests
  • Cone monochromatism1 test
  • Cone-rod dystrophy 103 tests
  • Cone-rod dystrophy 113 tests
  • Cone-rod dystrophy 126 tests
  • Cone-rod dystrophy 135 tests
  • Cone-rod dystrophy 153 tests
  • Cone-rod dystrophy 162 tests
  • Cone-rod dystrophy 182 tests
  • Cone-rod dystrophy 191 test
  • Cone-rod dystrophy 25 tests
  • Cone-rod dystrophy 202 tests
  • Cone-rod dystrophy 36 tests
  • Cone-rod dystrophy 52 tests
  • Cone-rod dystrophy 66 tests
  • Cone-rod dystrophy 73 tests
  • Cone-rod dystrophy 93 tests
  • Cone-rod dystrophy and hearing loss 12 tests
  • Cone-rod dystrophy, X-linked 17 tests
  • Congenital absence of salivary gland4 tests
  • Congenital adrenal hypoplasia1 test
  • Congenital adrenal hypoplasia, X-linked4 tests
  • Congenital amegakaryocytic thrombocytopenia7 tests
  • Congenital anomalies of kidney and urinary tract1 test
  • Congenital anomalies of kidney and urinary tract 1, susceptibility to4 tests
  • Congenital anomalies of kidney and urinary tract 23 tests
  • Congenital aphakia5 tests
  • Congenital bilateral aplasia of vas deferens from CFTR mutation10 tests
  • Congenital bile acid synthesis defect 12 tests
  • Congenital bile acid synthesis defect 21 test
  • Congenital bile acid synthesis defect 44 tests
  • Congenital cataracts, hearing loss, and neurodegeneration5 tests
  • Congenital cataracts-facial dysmorphism-neuropathy syndrome5 tests
  • Congenital central hypoventilation22 tests
  • Congenital chromosomal disease15 tests
  • Congenital contractural arachnodactyly4 tests
  • Congenital contractures of the limbs and face, hypotonia, and developmental delay3 tests
  • Congenital defect of folate absorption3 tests
  • Congenital diarrhea1 test
  • Congenital disorder of deglycosylation2 tests
  • Congenital disorder of glycosylation type 1C3 tests
  • Congenital disorder of glycosylation type 1E5 tests
  • Congenital disorder of glycosylation type 1M6 tests
  • Congenital disorder of glycosylation type 1N3 tests
  • Congenital disorder of glycosylation type 1O5 tests
  • Congenital disorder of glycosylation type 1P3 tests
  • Congenital disorder of glycosylation type 1Q5 tests
  • Congenital disorder of glycosylation type 1t5 tests
  • Congenital disorder of glycosylation type 1u5 tests
  • Congenital disorder of glycosylation type 1w2 tests
  • Congenital disorder of glycosylation type 1x2 tests
  • Congenital disorder of glycosylation type 1y2 tests
  • Congenital disorder of glycosylation type 2B5 tests
  • Congenital disorder of glycosylation type 2F2 tests
  • Congenital disorder of glycosylation type 2H2 tests
  • Congenital disorder of glycosylation type 2i2 tests
  • Congenital disorder of glycosylation type 2J2 tests
  • Congenital disorder of glycosylation type 2k2 tests
  • Congenital disorder of glycosylation type 2L2 tests
  • Congenital disorder of glycosylation type Ir2 tests
  • Congenital disorder of glycosylation, type Ia13 tests
  • Congenital disorder of glycosylation, type IIa3 tests
  • CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw1 test
  • Congenital dyserythropoietic anemia type type 1B1 test
  • Congenital dyserythropoietic anemia, type II3 tests
  • Congenital dyserythropoietic anemia, type IV1 test
  • Congenital erythropoietic porphyria3 tests
  • Congenital generalized lipodystrophy type 11 test
  • Congenital generalized lipodystrophy type 26 tests
  • Congenital glucose-galactose malabsorption2 tests
  • Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1 test
  • Congenital heart defects, hamartomas of tongue, and polysyndactyly6 tests
  • Congenital heart defects, multiple types, 21 test
  • Congenital hereditary endothelial dystrophy of the cornea1 test
  • Congenital hydrocephalus 12 tests
  • Congenital hypomyelinating neuropathy 1, autosomal recessive6 tests
  • Congenital hypoplastic anemia1 test
  • Congenital hypotrichosis with juvenile macular dystrophy10 tests
  • Congenital lactase deficiency1 test
  • Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type4 tests
  • Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi6 tests
  • Congenital microvillous atrophy3 tests
  • Congenital muscular dystrophy, LMNA-related22 tests
  • Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B57 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A57 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A27 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A49 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A63 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A74 tests
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B17 tests
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B27 tests
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B36 tests
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B63 tests
  • Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B49 tests
  • Congenital muscular hypertrophy-cerebral syndrome5 tests
  • Congenital myasthenic syndrome 126 tests
  • Congenital myasthenic syndrome 137 tests
  • Congenital myasthenic syndrome 1B, fast-channel8 tests
  • Congenital myasthenic syndrome 3B9 tests
  • Congenital myasthenic syndrome 4C8 tests
  • Congenital myasthenic syndrome, acetazolamide-responsive11 tests
  • Congenital myopathy with fiber type disproportion24 tests
  • Congenital myopathy with reduced type 2 muscle fibers1 test
  • Congenital myotonia, autosomal dominant form3 tests
  • Congenital myotonia, autosomal recessive form3 tests
  • Congenital nonprogressive myopathy with Moebius and Robin sequences4 tests
  • Congenital plasminogen activator inhibitor type 1 deficiency4 tests
  • Congenital secretory diarrhea, chloride type1 test
  • Congenital secretory diarrhea, sodium type2 tests
  • Congenital sensory neuropathy with selective loss of small myelinated fibers2 tests
  • Congenital stationary night blindness, autosomal dominant 16 tests
  • Congenital stationary night blindness, autosomal dominant 25 tests
  • Congenital stationary night blindness, autosomal dominant 34 tests
  • Congenital stationary night blindness, type 1A4 tests
  • Congenital stationary night blindness, type 1B4 tests
  • Congenital stationary night blindness, type 1C5 tests
  • Congenital stationary night blindness, type 1D3 tests
  • Congenital stationary night blindness, type 1E4 tests
  • Congenital stationary night blindness, type 1F3 tests
  • Congenital stationary night blindness, type 2A4 tests
  • Congenital stationary night blindness, type 2B3 tests
  • Conotruncal heart malformations11 tests
  • Contractures, pterygia, and variable skeletal fusions syndrome 1A6 tests
  • Cornea plana 21 test
  • Corneal dystrophy, Fuchs endothelial, 34 tests
  • Corneal dystrophy, Fuchs endothelial, 41 test
  • Corneal dystrophy, lattice type 3A2 tests
  • Corneal dystrophy-perceptive deafness syndrome1 test
  • Corneal epithelial dystrophy2 tests
  • Cornelia de Lange syndrome 16 tests
  • Cornelia de Lange syndrome 36 tests
  • Cornelia de Lange syndrome 44 tests
  • Cornelia de Lange syndrome 56 tests
  • Coronary artery disease, autosomal dominant 22 tests
  • Coronary heart disease 71 test
  • Corpus callosum agenesis-abnormal genitalia syndrome7 tests
  • Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia1 test
  • Corpus callosum, partial agenesis of, X-linked6 tests
  • Cortical dysplasia, complex, with other brain malformations 14 tests
  • Cortical dysplasia, complex, with other brain malformations 23 tests
  • Cortical dysplasia, complex, with other brain malformations 31 test
  • Cortical dysplasia, complex, with other brain malformations 42 tests
  • Cortical dysplasia, complex, with other brain malformations 52 tests
  • Cortical dysplasia, complex, with other brain malformations 63 tests
  • Cortical malformations, occipital2 tests
  • Corticosterone 18-monooxygenase deficiency4 tests
  • Corticosterone methyloxidase type 2 deficiency4 tests
  • Cortisone reductase deficiency 11 test
  • Costello syndrome9 tests
  • Cowden syndrome 117 tests
  • Cowden syndrome 41 test
  • Cowden syndrome 56 tests
  • Cowden syndrome 63 tests
  • Cowden syndrome 73 tests
  • Coxopodopatellar syndrome1 test
  • Craniodiaphyseal dysplasia, autosomal dominant3 tests
  • Cranioectodermal dysplasia 14 tests
  • Cranioectodermal dysplasia 26 tests
  • Cranioectodermal dysplasia 35 tests
  • Cranioectodermal dysplasia 411 tests
  • Craniofacial anomalies and anterior segment dysgenesis syndrome2 tests
  • Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome1 test
  • Craniofacial dysostosis15 tests
  • Craniofacial-deafness-hand syndrome4 tests
  • Craniofrontonasal syndrome5 tests
  • Craniolenticulosutural dysplasia1 test
  • Craniometaphyseal dysplasia, autosomal dominant2 tests
  • Craniometaphyseal dysplasia, autosomal recessive5 tests
  • Craniosynostosis 16 tests
  • Craniosynostosis 23 tests
  • Craniosynostosis 33 tests
  • Craniosynostosis 42 tests
  • Craniosynostosis 5, susceptibility to3 tests
  • Craniosynostosis 61 test
  • Craniosynostosis 72 tests
  • Craniosynostosis and dental anomalies3 tests
  • Craniosynostosis syndrome2 tests
  • Creatine transporter deficiency1 test
  • Creutzfeldt-Jakob Disease, Familial10 tests
  • Crigler-Najjar syndrome type 17 tests
  • Crigler-Najjar syndrome, type II7 tests
  • Crouzon syndrome with acanthosis nigricans11 tests
  • Cryohydrocytosis4 tests
  • Cryptophthalmos syndrome3 tests
  • Cryptophthalmos, unilateral or bilateral, isolated5 tests
  • Cryptorchidism2 tests
  • Culler-Jones syndrome7 tests
  • Currarino triad1 test
  • Curry-Hall syndrome9 tests
  • Curry-Jones syndrome2 tests
  • Cushing syndrome6 tests
  • Cutaneous malignant melanoma 26 tests
  • Cutaneous malignant melanoma 33 tests
  • Cutaneous malignant melanoma 51 test
  • Cutaneous malignant melanoma 83 tests
  • Cutaneous malignant melanoma 95 tests
  • Cutaneous telangiectasia and cancer syndrome, familial5 tests
  • Cutis laxa with osteodystrophy4 tests
  • Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities1 test
  • Cutis laxa, autosomal dominant 12 tests
  • Cutis laxa, autosomal dominant 25 tests
  • Cutis laxa, autosomal dominant 36 tests
  • Cutis laxa, autosomal recessive IIIA6 tests
  • Cutis laxa, X-linked6 tests
  • Cyclical neutropenia5 tests
  • Cylindromatosis, familial3 tests
  • CYP2C19-related poor drug metabolism3 tests
  • Cystathioninuria1 test
  • Cystic fibrosis11 tests
  • Cystinuria3 tests
  • Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder1 test
  • Czech dysplasia, metatarsal type18 tests
  • D-2-hydroxyglutaric aciduria 12 tests
  • D-2-hydroxyglutaric aciduria 27 tests
  • D-Glyceric aciduria1 test
  • Dalmatian hypouricemia1 test
  • Danon disease9 tests
  • DE SANCTIS-CACCHIONE SYNDROME12 tests
  • Deafness dystonia syndrome5 tests
  • Deafness, autosomal dominant 13 tests
  • Deafness, autosomal dominant 103 tests
  • Deafness, autosomal dominant 117 tests
  • Deafness, autosomal dominant 122 tests
  • Deafness, autosomal dominant 136 tests
  • Deafness, autosomal dominant 151 test
  • Deafness, autosomal dominant 203 tests
  • Deafness, autosomal dominant 237 tests
  • Deafness, autosomal dominant 251 test
  • Deafness, autosomal dominant 282 tests
  • Deafness, autosomal dominant 2b5 tests
  • Deafness, autosomal dominant 362 tests
  • Deafness, autosomal dominant 39, with dentinogenesis imperfecta 11 test
  • Deafness, autosomal dominant 3a6 tests
  • Deafness, autosomal dominant 3b5 tests
  • Deafness, autosomal dominant 45 tests
  • Deafness, autosomal dominant 401 test
  • Deafness, autosomal dominant 411 test
  • Deafness, autosomal dominant 441 test
  • Deafness, autosomal dominant 481 test
  • Deafness, autosomal dominant 51 test
  • Deafness, autosomal dominant 501 test
  • Deafness, autosomal dominant 641 test
  • Deafness, autosomal dominant 654 tests
  • Deafness, autosomal dominant 91 test
  • Deafness, autosomal recessive 126 tests
  • Deafness, autosomal recessive 151 test
  • Deafness, autosomal recessive 162 tests
  • Deafness, autosomal recessive 185 tests
  • Deafness, autosomal recessive 18b1 test
  • Deafness, autosomal recessive 1A10 tests
  • Deafness, autosomal recessive 1b5 tests
  • Deafness, autosomal recessive 27 tests
  • Deafness, autosomal recessive 212 tests
  • Deafness, autosomal recessive 222 tests
  • Deafness, autosomal recessive 239 tests
  • Deafness, autosomal recessive 241 test
  • Deafness, autosomal recessive 251 test
  • Deafness, autosomal recessive 281 test
  • Deafness, autosomal recessive 292 tests
  • Deafness, autosomal recessive 32 tests
  • Deafness, autosomal recessive 302 tests
  • Deafness, autosomal recessive 315 tests
  • Deafness, autosomal recessive 351 test
  • Deafness, autosomal recessive 36, with or without vestibular involvement1 test
  • Deafness, autosomal recessive 375 tests
  • Deafness, autosomal recessive 391 test
  • Deafness, autosomal recessive 4, with enlarged vestibular aqueduct7 tests
  • Deafness, autosomal recessive 421 test
  • Deafness, autosomal recessive 485 tests
  • Deafness, autosomal recessive 493 tests
  • Deafness, autosomal recessive 536 tests
  • Deafness, autosomal recessive 591 test
  • Deafness, autosomal recessive 61 test
  • Deafness, autosomal recessive 611 test
  • Deafness, autosomal recessive 631 test
  • Deafness, autosomal recessive 662 tests
  • Deafness, autosomal recessive 671 test
  • Deafness, autosomal recessive 72 tests
  • Deafness, autosomal recessive 702 tests
  • Deafness, autosomal recessive 741 test
  • Deafness, autosomal recessive 761 test
  • Deafness, autosomal recessive 772 tests
  • Deafness, autosomal recessive 792 tests
  • Deafness, autosomal recessive 82 tests
  • Deafness, autosomal recessive 841 test
  • Deafness, autosomal recessive 84b1 test
  • Deafness, autosomal recessive 864 tests
  • Deafness, autosomal recessive 892 tests
  • Deafness, autosomal recessive 92 tests
  • Deafness, autosomal recessive 911 test
  • Deafness, autosomal recessive 931 test
  • Deafness, autosomal recessive 976 tests
  • Deafness, autosomal recessive 982 tests
  • Deafness, congenital, with onychodystrophy, autosomal dominant1 test
  • Deafness, nonsyndromic sensorineural, mitochondrial3 tests
  • Deafness, X-linked 17 tests
  • Deafness, X-linked 29 tests
  • Deafness, X-linked 41 test
  • Deafness, X-linked 61 test
  • Deafness-infertility syndrome3 tests
  • Decreased plasma carnitine1 test
  • Deficiency of 2-methylbutyryl-CoA dehydrogenase1 test
  • Deficiency of 3-hydroxyacyl-CoA dehydrogenase3 tests
  • Deficiency of acetyl-CoA acetyltransferase2 tests
  • Deficiency of alpha-mannosidase5 tests
  • Deficiency of aromatic-L-amino-acid decarboxylase2 tests
  • Deficiency of beta-ureidopropionase1 test
  • Deficiency of butyryl-CoA dehydrogenase6 tests
  • Deficiency of butyrylcholine esterase3 tests
  • Deficiency of cytochrome-b5 reductase1 test
  • Deficiency of ferroxidase3 tests
  • Deficiency of galactokinase4 tests
  • Deficiency of glycerol kinase3 tests
  • Deficiency of guanidinoacetate methyltransferase4 tests
  • Deficiency of hyaluronoglucosaminidase3 tests
  • Deficiency of hydroxymethylglutaryl-CoA lyase4 tests
  • Deficiency of iodide peroxidase2 tests
  • Deficiency of malonyl-CoA decarboxylase3 tests
  • Deficiency of phosphoserine phosphatase1 test
  • Deficiency of pyrroline-5-carboxylate reductase2 tests
  • Deficiency of ribose-5-phosphate isomerase2 tests
  • Deficiency of steroid 11-beta-monooxygenase5 tests
  • Deficiency of steroid 17-alpha-monooxygenase6 tests
  • Deficiency of transaldolase3 tests
  • Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase7 tests
  • Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema3 tests
  • Dejerine-Sottas disease11 tests
  • Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency8 tests
  • Dent disease type 15 tests
  • Dent disease type 27 tests
  • Dental anomalies and short stature2 tests
  • Dentatorubral-pallidoluysian atrophy2 tests
  • Denticles1 test
  • Dentinogenesis imperfecta type 21 test
  • Dentinogenesis imperfecta type 31 test
  • Depression1 test
  • Dermatitis, atopic, 22 tests
  • Dermatofibrosarcoma protuberans2 tests
  • Dermatofibrosis lenticularis disseminata1 test
  • Dermatopathia pigmentosa reticularis4 tests
  • Desanto-shinawi syndrome1 test
  • Desbuquois dysplasia 12 tests
  • Desbuquois dysplasia 22 tests
  • Desmoid disease, hereditary8 tests
  • Desmosterolosis3 tests
  • Deuteranopia1 test
  • Developmental and epileptic encephalopathy 944 tests
  • Developmental and epileptic encephalopathy, 251 test
  • Developmental and epileptic encephalopathy, 4212 tests
  • Developmental and epileptic encephalopathy, 601 test
  • Developmental malformations-deafness-dystonia syndrome7 tests
  • Diabetes mellitus type 16 tests
  • Diabetes mellitus, insulin-dependent, 103 tests
  • Diabetes mellitus, insulin-dependent, 124 tests
  • Diabetes mellitus, insulin-dependent, 26 tests
  • Diabetes mellitus, insulin-dependent, 206 tests
  • Diabetes mellitus, ketosis-prone4 tests
  • Diabetes mellitus, neonatal, with congenital hypothyroidism2 tests
  • Diabetes mellitus, permanent neonatal, with cerebellar agenesis2 tests
  • Diamond-Blackfan anemia 16 tests
  • Diamond-Blackfan anemia 105 tests
  • Diamond-Blackfan anemia 112 tests
  • Diamond-Blackfan anemia 122 tests
  • Diamond-Blackfan anemia 131 test
  • Diamond-Blackfan anemia 15 with mandibulofacial dysostosis2 tests
  • Diamond-Blackfan anemia 161 test
  • Diamond-Blackfan anemia 171 test
  • Diamond-Blackfan anemia 34 tests
  • Diamond-Blackfan anemia 43 tests
  • Diamond-Blackfan anemia 54 tests
  • Diamond-Blackfan anemia 65 tests
  • Diamond-Blackfan anemia 74 tests
  • Diamond-Blackfan anemia 84 tests
  • Diamond-Blackfan anemia 94 tests
  • Diaphragmatic hernia 31 test
  • Diaphyseal dysplasia1 test
  • Diaphyseal medullary stenosis-bone malignancy syndrome1 test
  • Diarrhea 4, malabsorptive, congenital2 tests
  • Diarrhea 5, with tufting enteropathy, congenital12 tests
  • Diarrhea 61 test
  • Diarrhea 71 test
  • Diastrophic dysplasia7 tests
  • DICER1-related pleuropulmonary blastoma cancer predisposition syndrome3 tests
  • DiGeorge Syndrome7 tests
  • Digital arthropathy-brachydactyly, familial9 tests
  • Digital clubbing, isolated congenital1 test
  • Dihydropteridine reductase deficiency2 tests
  • Dihydropyrimidinase deficiency1 test
  • Dihydropyrimidine dehydrogenase deficiency5 tests
  • Dilated cardiomyopathy 1A22 tests
  • Dilated cardiomyopathy 1AA5 tests
  • Dilated cardiomyopathy 1BB7 tests
  • Dilated cardiomyopathy 1C10 tests
  • Dilated cardiomyopathy 1CC5 tests
  • Dilated cardiomyopathy 1DD3 tests
  • Dilated cardiomyopathy 1E11 tests
  • Dilated cardiomyopathy 1EE7 tests
  • Dilated cardiomyopathy 1FF5 tests
  • Dilated cardiomyopathy 1G12 tests
  • Dilated cardiomyopathy 1GG12 tests
  • Dilated cardiomyopathy 1HH8 tests
  • Dilated cardiomyopathy 1I11 tests
  • Dilated cardiomyopathy 1II9 tests
  • Dilated cardiomyopathy 1J3 tests
  • Dilated cardiomyopathy 1JJ2 tests
  • Dilated cardiomyopathy 1KK5 tests
  • Dilated cardiomyopathy 1L9 tests
  • Dilated cardiomyopathy 1M6 tests
  • Dilated cardiomyopathy 1O5 tests
  • Dilated cardiomyopathy 1P7 tests
  • Dilated cardiomyopathy 1R6 tests
  • Dilated cardiomyopathy 1S8 tests
  • Dilated cardiomyopathy 1T1 test
  • Dilated cardiomyopathy 1V5 tests
  • Dilated cardiomyopathy 1W5 tests
  • Dilated cardiomyopathy 1X9 tests
  • Dilated cardiomyopathy 1Y7 tests
  • Dilated cardiomyopathy 1Z5 tests
  • Dilated cardiomyopathy 2A5 tests
  • Dilated cardiomyopathy 3B9 tests
  • Dilated cardiomyopathy with woolly hair and keratoderma5 tests
  • Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome22 tests
  • Dimethylglycine dehydrogenase deficiency1 test
  • Disorder due cytochrome p450 CYP1A21 test
  • Disorder due cytochrome p450 CYP2D6 variant2 tests
  • Disorder due cytochrome p450 CYP3A41 test
  • Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency6 tests
  • Distal arthrogryposis type 1A6 tests
  • Distal arthrogryposis type 1B4 tests
  • Distal arthrogryposis type 5D4 tests
  • Distal hereditary motor neuronopathy 2D3 tests
  • Distal hereditary motor neuronopathy type 2A7 tests
  • Distal hereditary motor neuronopathy type 2B6 tests
  • Distal hereditary motor neuronopathy type 2C4 tests
  • Distal hereditary motor neuronopathy type 57 tests
  • Distal hereditary motor neuronopathy type 5B7 tests
  • Distal hereditary motor neuronopathy type 7B6 tests
  • Distal myopathy with rimmed vacuoles3 tests
  • Distal myopathy, Tateyama type9 tests
  • Distal spinal muscular atrophy, autosomal recessive 25 tests
  • Distal spinal muscular atrophy, autosomal recessive 45 tests
  • Distal spinal muscular atrophy, congenital nonprogressive9 tests
  • Distal spinal muscular atrophy, X-linked 36 tests
  • Distichiasis-lymphedema syndrome7 tests
  • Dominant dystrophic epidermolysis bullosa with absence of skin5 tests
  • Donnai-Barrow syndrome4 tests
  • Dopa-responsive dystonia due to sepiapterin reductase deficiency3 tests
  • Double Y syndrome2 tests
  • Dowling-Degos disease 11 test
  • Dowling-Degos disease 21 test
  • Dowling-degos disease 41 test
  • Doyne honeycomb retinal dystrophy5 tests
  • DPAGT1-CDG7 tests
  • Drash syndrome14 tests
  • Duane retraction syndrome 21 test
  • Duane retraction syndrome 3 with or without deafness2 tests
  • Duane-radial ray syndrome7 tests
  • Dubin-Johnson syndrome3 tests
  • Duchenne muscular dystrophy9 tests
  • Dyggve-Melchior-Clausen syndrome3 tests
  • Dyschromatosis universalis hereditaria 11 test
  • Dyschromatosis universalis hereditaria 32 tests
  • Dysfibrinogenemia, congenital9 tests
  • Dyskeratosis congenita1 test
  • Dyskeratosis congenita autosomal recessive 15 tests
  • Dyskeratosis congenita, autosomal dominant 18 tests
  • Dyskeratosis congenita, autosomal dominant 64 tests
  • Dyskeratosis congenita, autosomal dominant, 25 tests
  • Dyskeratosis congenita, autosomal dominant, 34 tests
  • Dyskeratosis congenita, autosomal recessive 24 tests
  • Dyskeratosis congenita, autosomal recessive 63 tests
  • Dyskeratosis congenita, autosomal recessive, 32 tests
  • Dyskeratosis congenita, autosomal recessive, 55 tests
  • Dyskeratosis congenita, X-linked5 tests
  • Dyskinesia, familial, with facial myokymia3 tests
  • Dyskinesia, limb and orofacial, infantile-onset2 tests
  • Dyskinesia, seizures, and intellectual developmental disorder2 tests
  • Dyslexia 11 test
  • Dysmorphic features3 tests
  • Dystonia1 test
  • Dystonia 14 tests
  • Dystonia 127 tests
  • Dystonia 164 tests
  • Dystonia 243 tests
  • Dystonia 253 tests
  • Dystonia 26, myoclonic1 test
  • Dystonia 278 tests
  • Dystonia 28, childhood-onset1 test
  • Dystonia 55 tests
  • Dystonia 912 tests
  • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities3 tests
  • Dystransthyretinemic euthyroidal hyperthyroxinemia11 tests
  • Early infantile epileptic encephalopathy 108 tests
  • Early infantile epileptic encephalopathy 114 tests
  • Early infantile epileptic encephalopathy 122 tests
  • Early infantile epileptic encephalopathy 134 tests
  • Early infantile epileptic encephalopathy 144 tests
  • Early infantile epileptic encephalopathy 173 tests
  • Early infantile epileptic encephalopathy 182 tests
  • Early infantile epileptic encephalopathy 26 tests
  • Early infantile epileptic encephalopathy 341 test
  • Early infantile epileptic encephalopathy 44 tests
  • Early infantile epileptic encephalopathy 52 tests
  • Early infantile epileptic encephalopathy 74 tests
  • Early infantile epileptic encephalopathy 83 tests
  • Early infantile epileptic encephalopathy 93 tests
  • Early myoclonic encephalopathy2 tests
  • Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome2 tests
  • EAST syndrome5 tests
  • Ectodermal dysplasia1 test
  • Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant4 tests
  • Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal4 tests
  • Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant3 tests
  • Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive3 tests
  • Ectodermal dysplasia 4, hair/nail type1 test
  • Ectodermal dysplasia 7, hair/nail type3 tests
  • Ectodermal dysplasia 9, hair/nail type1 test
  • Ectodermal dysplasia and immunodeficiency 14 tests
  • Ectodermal dysplasia and immunodeficiency 23 tests
  • Ectodermal dysplasia-syndactyly syndrome 11 test
  • Ectodermal dysplasia/short stature syndrome2 tests
  • Ectopia lentis 2, isolated, autosomal recessive3 tests
  • Ectopia lentis et pupillae3 tests
  • Ectopia lentis, isolated, autosomal dominant5 tests
  • Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 38 tests
  • EDICT syndrome1 test
  • EEM syndrome10 tests
  • EGFR-related lung cancer2 tests
  • Ehlers-Danlos syndrome classic type 24 tests
  • Ehlers-Danlos syndrome dermatosparaxis type2 tests
  • Ehlers-Danlos syndrome due to tenascin-X deficiency4 tests
  • Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss3 tests
  • Ehlers-Danlos syndrome, arthrochalasia type, 15 tests
  • Ehlers-Danlos syndrome, cardiac valvular type5 tests
  • Ehlers-Danlos syndrome, classic type3 tests
  • Ehlers-Danlos syndrome, classic type I1 test
  • Ehlers-Danlos syndrome, hydroxylysine-deficient3 tests
  • Ehlers-Danlos syndrome, musculocontractural type5 tests
  • Ehlers-Danlos syndrome, musculocontractural type 21 test
  • Ehlers-Danlos syndrome, progeroid type, 23 tests
  • Ehlers-Danlos syndrome, spondylodysplastic type, 12 tests
  • Ehlers-Danlos syndrome, type 43 tests
  • Eichsfeld type congenital muscular dystrophy6 tests
  • Eiken syndrome1 test
  • Elevated circulating creatine kinase concentration9 tests
  • Elliptocytosis 11 test
  • Elliptocytosis 22 tests
  • Ellis-van Creveld syndrome9 tests
  • Emery-Dreifuss muscular dystrophy 1, X-linked6 tests
  • Emery-Dreifuss muscular dystrophy 3, autosomal recessive22 tests
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant8 tests
  • Emery-Dreifuss muscular dystrophy 5, autosomal dominant6 tests
  • Emery-Dreifuss muscular dystrophy 7, autosomal dominant7 tests
  • Encephalocraniocutaneous lipomatosis13 tests
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 14 tests
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 24 tests
  • Encephalopathy, acute, infection-induced, 3, suceptibility to2 tests
  • Encephalopathy, acute, infection-induced, 4, susceptibility to9 tests
  • Encephalopathy, familial, with neuroserpin inclusion bodies1 test
  • Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum1 test
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 11 test
  • Encephalopathy, progressive, with amyotrophy and optic atrophy6 tests
  • Encephalopathy, progressive, with or without lipodystrophy6 tests
  • Endocrine-cerebroosteodysplasia1 test
  • Endometrial carcinoma20 tests
  • Endplate acetylcholinesterase deficiency7 tests
  • Enhanced S-cone syndrome3 tests
  • Enterokinase deficiency1 test
  • Epidermal nevus25 tests
  • Epidermal nevus syndrome14 tests
  • Epidermodysplasia verruciformis1 test
  • EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 12 tests
  • Epidermodysplasia verruciformis, susceptibility to, 21 test
  • Epidermodysplasia verruciformis, susceptibility to, 41 test
  • Epidermolysis bullosa junctionalis with pyloric atresia10 tests
  • Epidermolysis bullosa pruriginosa5 tests
  • Epidermolysis bullosa simplex Dowling-Meara type5 tests
  • Epidermolysis bullosa simplex due to plakophilin deficiency2 tests
  • Epidermolysis bullosa simplex with migratory circinate erythema1 test
  • Epidermolysis bullosa simplex with mottled pigmentation1 test
  • Epidermolysis bullosa simplex with muscular dystrophy7 tests
  • Epidermolysis bullosa simplex with nail dystrophy7 tests
  • Epidermolysis bullosa simplex with pyloric atresia7 tests
  • Epidermolysis bullosa simplex, autosomal recessive5 tests
  • Epidermolysis bullosa simplex, autosomal recessive 23 tests
  • Epidermolysis bullosa simplex, Koebner type5 tests
  • Epidermolysis bullosa simplex, Ogna type7 tests
  • Epidermolytic palmoplantar keratoderma5 tests
  • Epilepsy, childhood absence 22 tests
  • Epilepsy, childhood absence 53 tests
  • Epilepsy, childhood absence 65 tests
  • Epilepsy, early-onset, vitamin b6-dependent2 tests
  • Epilepsy, familial focal, with variable foci 13 tests
  • Epilepsy, familial focal, with variable foci 21 test
  • Epilepsy, familial focal, with variable foci 31 test
  • Epilepsy, familial temporal lobe, 51 test
  • Epilepsy, familial temporal lobe, 73 tests
  • Epilepsy, focal, with speech disorder and with or without mental retardation3 tests
  • Epilepsy, hearing loss, and mental retardation syndrome2 tests
  • Epilepsy, idiopathic generalized 101 test
  • Epilepsy, idiopathic generalized 87 tests
  • Epilepsy, idiopathic generalized 95 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 117 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 121 test
  • Epilepsy, idiopathic generalized, susceptibility to, 141 test
  • Epilepsy, juvenile absence, susceptibility to, 11 test
  • Epilepsy, juvenile myoclonic 52 tests
  • Epilepsy, juvenile myoclonic, susceptibility to, 101 test
  • Epilepsy, nocturnal frontal lobe, 54 tests
  • Epilepsy, nocturnal frontal lobe, type 13 tests
  • Epilepsy, nocturnal frontal lobe, type 33 tests
  • Epilepsy, nocturnal frontal lobe, type 43 tests
  • Epilepsy, progressive myoclonic 32 tests
  • Epilepsy, progressive myoclonic 4, with or without renal failure7 tests
  • Epilepsy, progressive myoclonic 62 tests
  • Epilepsy, X-linked, with variable learning disabilities and behavior disorders1 test
  • Epileptic encephalopathy1 test
  • Epileptic encephalopathy Lennox-Gastaut type1 test
  • Epileptic encephalopathy, early infantile, 17 tests
  • Epileptic encephalopathy, early infantile, 192 tests
  • Epileptic encephalopathy, early infantile, 232 tests
  • Epileptic encephalopathy, early infantile, 242 tests
  • Epileptic encephalopathy, early infantile, 261 test
  • Epileptic encephalopathy, early infantile, 273 tests
  • Epileptic encephalopathy, early infantile, 283 tests
  • Epileptic encephalopathy, early infantile, 295 tests
  • Epileptic encephalopathy, early infantile, 301 test
  • Epileptic encephalopathy, early infantile, 313 tests
  • Epileptic encephalopathy, early infantile, 324 tests
  • Epileptic encephalopathy, early infantile, 352 tests
  • Epileptic encephalopathy, early infantile, 364 tests
  • Epileptic encephalopathy, early infantile, 371 test
  • Epileptic encephalopathy, early infantile, 411 test
  • Epileptic encephalopathy, early infantile, 433 tests
  • Epileptic encephalopathy, early infantile, 441 test
  • Epileptic encephalopathy, early infantile, 471 test
  • Epileptic encephalopathy, early infantile, 512 tests
  • Epileptic encephalopathy, early infantile, 527 tests
  • Epileptic encephalopathy, early infantile, 533 tests
  • Epileptic encephalopathy, early infantile, 542 tests
  • Epiphyseal chondrodysplasia, miura type2 tests
  • Epiphyseal dysplasia, multiple, 24 tests
  • Epiphyseal dysplasia, multiple, 33 tests
  • Epiphyseal dysplasia, multiple, with myopia and conductive deafness18 tests
  • Episodic ataxia type 18 tests
  • Episodic ataxia type 212 tests
  • Episodic ataxia, type 55 tests
  • Episodic ataxia, type 65 tests
  • Episodic kinesigenic dyskinesia 17 tests
  • Episodic pain syndrome, familial, 25 tests
  • Episodic pain syndrome, familial, 33 tests
  • Erythrocyte lactate transporter defect3 tests
  • Erythrocytosis1 test
  • Erythrocytosis, familial, 211 tests
  • Erythrocytosis, familial, 32 tests
  • Erythrocytosis, familial, 41 test
  • Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige2 tests
  • Erythroderma, ichthyosiform, congenital reticular3 tests
  • Erythrokeratoderma variabilis progressiva1 test
  • Erythrokeratodermia variabilis et progressiva 16 tests
  • Erythrokeratodermia variabilis et progressiva 22 tests
  • Erythrokeratodermia variabilis et progressiva 42 tests
  • Essential hypertension9 tests
  • Essential pentosuria1 test
  • Ethylmalonic encephalopathy3 tests
  • Even-plus syndrome1 test
  • Ewing sarcoma1 test
  • Exercise intolerance, riboflavin-responsive1 test
  • Exercise-induced hyperinsulinism3 tests
  • Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis1 test
  • Exudative vitreoretinopathy 110 tests
  • Exudative vitreoretinopathy 49 tests
  • Exudative vitreoretinopathy 53 tests
  • Exudative vitreoretinopathy 62 tests
  • Facial dysmorphism, immunodeficiency, livedo, and short stature3 tests
  • Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs1 test
  • Facioscapulohumeral muscular dystrophy 24 tests
  • Factor H deficiency6 tests
  • Factor v and factor viii, combined deficiency of, 22 tests
  • Factor V deficiency5 tests
  • Factor VII deficiency5 tests
  • Factor X deficiency4 tests
  • Factor XII deficiency disease3 tests
  • Factor XIII, A subunit, deficiency of3 tests
  • Factor XIII, b subunit, deficiency of3 tests
  • Failure of tooth eruption, primary1 test
  • Familial acne inversa 12 tests
  • Familial adenomatous polyposis 19 tests
  • Familial adenomatous polyposis 33 tests
  • Familial adenomatous polyposis 45 tests
  • Familial amyloid nephropathy with urticaria AND deafness5 tests
  • Familial atrial myxoma6 tests
  • Familial atypical mycobacteriosis, type 1, X-linked4 tests
  • Familial benign pemphigus1 test
  • Familial cancer of breast59 tests
  • Familial chronic mucocutaneous candidiasis2 tests
  • Familial cold autoinflammatory syndrome 15 tests
  • Familial cold autoinflammatory syndrome 23 tests
  • Familial cold autoinflammatory syndrome 33 tests
  • Familial cold autoinflammatory syndrome 42 tests
  • Familial colorectal cancer1 test
  • Familial dysautonomia5 tests
  • Familial episodic pain syndrome 13 tests
  • Familial expansile osteolysis5 tests
  • Familial exudative vitreoretinopathy, X-linked7 tests
  • Familial hemiplegic migraine type 112 tests
  • Familial hemiplegic migraine type 28 tests
  • Familial hemiplegic migraine type 38 tests
  • Familial hemophagocytic lymphohistiocytosis 25 tests
  • Familial hemophagocytic lymphohistiocytosis 34 tests
  • Familial hemophagocytic lymphohistiocytosis 44 tests
  • Familial hyperaldosteronism type 39 tests
  • Familial hypercholesterolemia1 test
  • Familial hypercholesterolemia 17 tests
  • Familial hypercholesterolemia 23 tests
  • Familial hypercholesterolemia 32 tests
  • Familial hypercholesterolemia 43 tests
  • Familial hyperkalemic periodic paralysis11 tests
  • Familial hypertriglyceridemia3 tests
  • Familial hypertrophic cardiomyopathy 116 tests
  • Familial hypertrophic cardiomyopathy 105 tests
  • Familial hypertrophic cardiomyopathy 116 tests
  • Familial hypertrophic cardiomyopathy 126 tests
  • Familial hypertrophic cardiomyopathy 135 tests
  • Familial hypertrophic cardiomyopathy 147 tests
  • Familial hypertrophic cardiomyopathy 155 tests
  • Familial hypertrophic cardiomyopathy 164 tests
  • Familial hypertrophic cardiomyopathy 174 tests
  • Familial hypertrophic cardiomyopathy 187 tests
  • Familial hypertrophic cardiomyopathy 191 test
  • Familial hypertrophic cardiomyopathy 28 tests
  • Familial hypertrophic cardiomyopathy 205 tests
  • Familial hypertrophic cardiomyopathy 37 tests
  • Familial hypertrophic cardiomyopathy 49 tests
  • Familial hypertrophic cardiomyopathy 69 tests
  • Familial hypertrophic cardiomyopathy 75 tests
  • Familial hypertrophic cardiomyopathy 85 tests
  • Familial hypertrophic cardiomyopathy 912 tests
  • Familial hypokalemia-hypomagnesemia3 tests
  • Familial infantile myasthenia6 tests
  • Familial isolated deficiency of vitamin E5 tests
  • Familial isolated hypoparathyroidism5 tests
  • Familial juvenile hyperuricemic nephropathy type 15 tests
  • Familial Mediterranean fever8 tests
  • Familial mediterranean fever, autosomal dominant8 tests
  • Familial medullary thyroid carcinoma10 tests
  • Familial multiple trichoepitheliomata3 tests
  • Familial partial lipodystrophy 222 tests
  • Familial partial lipodystrophy 32 tests
  • Familial platelet disorder with associated myeloid malignancy5 tests
  • Familial porphyria cutanea tarda9 tests
  • Familial pulmonary capillary hemangiomatosis2 tests
  • Familial renal glucosuria2 tests
  • Familial restrictive cardiomyopathy 15 tests
  • Familial restrictive cardiomyopathy 38 tests
  • Familial temporal lobe epilepsy 14 tests
  • Familial type 3 hyperlipoproteinemia4 tests
  • Familial type 5 hyperlipoproteinemia3 tests
  • Familial visceral amyloidosis, Ostertag type11 tests
  • Familial X-linked hypophosphatemic vitamin D refractory rickets3 tests
  • Fanconi anemia, complementation group A6 tests
  • Fanconi anemia, complementation group B5 tests
  • Fanconi anemia, complementation group C8 tests
  • Fanconi anemia, complementation group D111 tests
  • Fanconi anemia, complementation group D25 tests
  • Fanconi anemia, complementation group E4 tests
  • Fanconi anemia, complementation group F4 tests
  • Fanconi anemia, complementation group G5 tests
  • Fanconi anemia, complementation group I4 tests
  • Fanconi anemia, complementation group J7 tests
  • Fanconi anemia, complementation group L6 tests
  • Fanconi anemia, complementation group N8 tests
  • Fanconi anemia, complementation group O7 tests
  • Fanconi anemia, complementation group P5 tests
  • Fanconi anemia, complementation group Q5 tests
  • Fanconi anemia, complementation group R2 tests
  • Fanconi anemia, complementation group T2 tests
  • Fanconi anemia, complementation group U4 tests
  • Fanconi renotubular syndrome 22 tests
  • Fanconi renotubular syndrome 32 tests
  • Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young6 tests
  • Fanconi syndrome1 test
  • Fanconi-Bickel syndrome2 tests
  • Farber lipogranulomatosis4 tests
  • Fatal familial insomnia10 tests
  • Fatal infantile hypertonic myofibrillar myopathy9 tests
  • Febrile seizures, familial, 111 test
  • Febrile seizures, familial, 47 tests
  • Feingold syndrome 14 tests
  • Feingold syndrome 21 test
  • Fetal akinesia deformation sequence 21 test
  • FG syndrome 17 tests
  • FG syndrome 29 tests
  • FG syndrome 46 tests
  • Fibrochondrogenesis 16 tests
  • Fibrochondrogenesis 26 tests
  • FIBROMUSCULAR DYSPLASIA, MULTIFOCAL1 test
  • Fibrosis of extraocular muscles, congenital, 11 test
  • Fibrosis of extraocular muscles, congenital, 21 test
  • Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement4 tests
  • Fibrosis of extraocular muscles, congenital, 51 test
  • Fibrous dysplasia of jaw3 tests
  • Fibular hypoplasia and complex brachydactyly4 tests
  • Filippi syndrome2 tests
  • Finnish congenital nephrotic syndrome6 tests
  • Fish-eye disease4 tests
  • Fleck retina, familial benign4 tests
  • Floating-Harbor syndrome1 test
  • Fluorouracil response1 test
  • Focal cortical dysplasia type II14 tests
  • Focal dermal hypoplasia4 tests
  • Focal facial dermal dysplasia 3, Setleis type2 tests
  • Focal segmental glomerulosclerosis1 test
  • Focal segmental glomerulosclerosis 16 tests
  • Focal segmental glomerulosclerosis 25 tests
  • Focal segmental glomerulosclerosis 3, susceptibility to5 tests
  • Focal segmental glomerulosclerosis 4, susceptibility to4 tests
  • Focal segmental glomerulosclerosis 58 tests
  • Focal segmental glomerulosclerosis 65 tests
  • Focal segmental glomerulosclerosis 77 tests
  • Focal segmental glomerulosclerosis 84 tests
  • Focal segmental glomerulosclerosis 95 tests
  • Follicular lymphoma1 test
  • Follicular lymphoma 11 test
  • Foveal hypoplasia 23 tests
  • Foveal hypoplasia and presenile cataract syndrome9 tests
  • Fragile X syndrome9 tests
  • Fragile X tremor/ataxia syndrome9 tests
  • Frank-Ter Haar syndrome3 tests
  • Fraser syndrome 17 tests
  • Fraser syndrome 25 tests
  • Fraser syndrome 34 tests
  • Frasier syndrome14 tests
  • FRAXE1 test
  • Freeman-Sheldon syndrome6 tests
  • Friedreich ataxia 19 tests
  • Frontometaphyseal dysplasia 19 tests
  • Frontometaphyseal dysplasia 21 test
  • Frontonasal dysplasia 14 tests
  • Frontonasal dysplasia 23 tests
  • Frontonasal dysplasia 32 tests
  • Frontotemporal dementia10 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 28 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 33 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 43 tests
  • Fructose-biphosphatase deficiency3 tests
  • Fructosuria, essential1 test
  • Fucosidosis2 tests
  • Fuhrmann syndrome2 tests
  • Fumarase deficiency8 tests
  • Galactosylceramide beta-galactosidase deficiency9 tests
  • Gallbladder disease 45 tests
  • Galloway-Mowat syndrome 14 tests
  • Gamma-aminobutyric acid transaminase deficiency5 tests
  • Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to2 tests
  • GAPO syndrome1 test
  • Gastric lymphoma1 test
  • Gastrointestinal stroma tumor17 tests
  • Gaucher disease type 3C14 tests
  • Gaucher disease type I14 tests
  • Gaucher disease type II14 tests
  • Gaucher disease type III14 tests
  • Gaucher disease, atypical, due to saposin C deficiency6 tests
  • Gaucher disease, perinatal lethal14 tests
  • Gaze palsy, familial horizontal, with progressive scoliosis 12 tests
  • Geleophysic dysplasia 14 tests
  • Geleophysic dysplasia 25 tests
  • Geleophysic dysplasia 31 test
  • Generalized arterial calcification of infancy 24 tests
  • Generalized dominant dystrophic epidermolysis bullosa5 tests
  • Generalized epilepsy with febrile seizures plus, type 17 tests
  • Generalized epilepsy with febrile seizures plus, type 28 tests
  • Generalized epilepsy with febrile seizures plus, type 75 tests
  • Generalized epilepsy with febrile seizures plus, type 92 tests
  • Generalized juvenile polyposis/juvenile polyposis coli13 tests
  • Genetic predisposition2 tests
  • Genitopatellar syndrome3 tests
  • Gerstmann-Straussler-Scheinker syndrome10 tests
  • Ghosal hematodiaphyseal dysplasia2 tests
  • Giant axonal neuropathy 14 tests
  • Gilbert syndrome7 tests
  • Gillespie syndrome3 tests
  • Gillessen-Kaesbach-Nishimura syndrome4 tests
  • Gingival fibromatosis 16 tests
  • Glanzmann thrombasthenia6 tests
  • Glaucoma 1, open angle, A2 tests
  • Glaucoma 1, open angle, G1 test
  • Glaucoma 3, primary congenital, A5 tests
  • Glaucoma 3, primary congenital, d2 tests
  • Glaucoma 3, primary infantile, b5 tests
  • Glaucoma, normal tension, susceptibility to12 tests
  • Glioblastoma1 test
  • Glioma2 tests
  • Glioma susceptibility 115 tests
  • Glioma susceptibility 217 tests
  • Glioma susceptibility 311 tests
  • Glioma susceptibility 92 tests
  • Global developmental delay3 tests
  • Globozoospermia4 tests
  • Glomerulocystic kidney disease with hyperuricemia and isosthenuria5 tests
  • Glomerulopathy with fibronectin deposits 22 tests
  • Glomuvenous malformations1 test
  • Glucocorticoid deficiency 22 tests
  • Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency1 test
  • Glucocorticoid deficiency with achalasia3 tests
  • Glucocorticoid resistance, generalized2 tests
  • Glucose-6-phosphate transport defect7 tests
  • GLUT1 deficiency syndrome 112 tests
  • GLUT1 deficiency syndrome 212 tests
  • Glutaric aciduria, type 16 tests
  • Glutaryl-CoA oxidase deficiency3 tests
  • Glutathione peroxidase deficiency2 tests
  • Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to4 tests
  • Gluthathione synthetase deficiency4 tests
  • Glycine N-methyltransferase deficiency1 test
  • Glycogen storage disease 0, muscle4 tests
  • Glycogen storage disease due to glucose-6-phosphatase deficiency type IA6 tests
  • Glycogen storage disease due to hepatic glycogen synthase deficiency3 tests
  • Glycogen storage disease due to muscle beta-enolase deficiency3 tests
  • Glycogen storage disease IXb3 tests
  • Glycogen storage disease IXc4 tests
  • Glycogen storage disease IXd3 tests
  • Glycogen storage disease of heart, lethal congenital9 tests
  • Glycogen storage disease type III10 tests
  • Glycogen storage disease type IXa14 tests
  • Glycogen storage disease type X4 tests
  • Glycogen storage disease XI3 tests
  • Glycogen storage disease XV4 tests
  • Glycogen storage disease, type II10 tests
  • Glycogen storage disease, type IV11 tests
  • Glycogen storage disease, type V7 tests
  • Glycogen storage disease, type VI3 tests
  • Glycogen storage disease, type VII5 tests
  • GM1 gangliosidosis type 28 tests
  • GM1 gangliosidosis type 38 tests
  • GM3 synthase deficiency1 test
  • Gnathodiaphyseal dysplasia6 tests
  • GNE myopathy7 tests
  • Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors3 tests
  • Goldberg-Shprintzen megacolon syndrome2 tests
  • Goldenhar syndrome1 test
  • Gonadotropin-independent familial sexual precocity6 tests
  • Gordon Holmes syndrome3 tests
  • Gordon syndrome5 tests
  • Gorlin syndrome11 tests
  • GRACILE syndrome6 tests
  • Graft-versus-host disease, susceptibility to2 tests
  • Granulocytopenia with immunoglobulin abnormality1 test
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative3 tests
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III3 tests
  • Gray platelet syndrome3 tests
  • Grebe syndrome4 tests
  • Greenberg dysplasia4 tests
  • Greig cephalopolysyndactyly syndrome10 tests
  • Griscelli syndrome type 11 test
  • Griscelli syndrome type 25 tests
  • Griscelli syndrome type 31 test
  • Grn-related frontotemporal lobar degeneration with Tdp43 inclusions5 tests
  • Groenouw corneal dystrophy type I2 tests
  • Growth delay due to insulin-like growth factor I resistance1 test
  • Growth delay due to insulin-like growth factor type 1 deficiency2 tests
  • Growth hormone insensitivity with immune dysregulation 1, autosomal recessive3 tests
  • Growth retardation, developmental delay, coarse facies, and early death1 test
  • GSTM1-related lung cancer1 test
  • GTP cyclohydrolase I deficiency5 tests
  • Guillain-Barre syndrome, familial5 tests
  • Guttmacher syndrome1 test
  • Haim-Munk syndrome4 tests
  • Hajdu-Cheney syndrome5 tests
  • Hamamy syndrome3 tests
  • Hamartoma of hypothalamus10 tests
  • Hand-foot-genital syndrome1 test
  • Harel-Yoon syndrome2 tests
  • Hartsfield syndrome1 test
  • Hashimoto thyroiditis4 tests
  • Hawkinsinuria2 tests
  • Hay-Wells syndrome of ectodermal dysplasia8 tests
  • Hb SS disease8 tests
  • Heart and brain malformation syndrome1 test
  • Heart-hand syndrome, Slovenian type22 tests
  • Hecht syndrome5 tests
  • Heimler syndrome 114 tests
  • Heimler syndrome 29 tests
  • Heinz body anemia11 tests
  • Helicobacter pylori infection, susceptibility to2 tests
  • Helsmoortel-Van der Aa Syndrome2 tests
  • Hemangioma, capillary infantile5 tests
  • Heme oxygenase 1 deficiency1 test
  • Hemochromatosis type 110 tests
  • Hemochromatosis type 2A2 tests
  • Hemochromatosis type 2B5 tests
  • Hemochromatosis type 35 tests
  • Hemochromatosis type 44 tests
  • Hemochromatosis type 52 tests
  • Hemoglobin H disease3 tests
  • Hemolytic anemia due to glutathione reductase deficiency2 tests
  • Hemolytic anemia due to hexokinase deficiency8 tests
  • Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency2 tests
  • Hemophagocytic lymphohistiocytosis, familial, 56 tests
  • Hemorrhage, intracerebral, susceptibility to18 tests
  • Hemorrhagic destruction of the brain, subependymal calcification, and cataracts2 tests
  • Hennekam lymphangiectasia-lymphedema syndrome 14 tests
  • Hennekam lymphangiectasia-lymphedema syndrome 23 tests
  • Heparin cofactor II deficiency1 test
  • Hepatic adenomas, familial6 tests
  • Hepatic methionine adenosyltransferase deficiency2 tests
  • Hepatic veno-occlusive disease-immunodeficiency syndrome1 test
  • Hepatitis b virus, susceptibility to6 tests
  • Hepatocellular carcinoma32 tests
  • Hereditary acrodermatitis enteropathica1 test
  • Hereditary angioedema type 12 tests
  • Hereditary angioedema type 33 tests
  • Hereditary ataxia1 test
  • Hereditary cerebral amyloid angiopathy, Icelandic type3 tests
  • Hereditary Chorea1 test
  • Hereditary congenital facial paresis 32 tests
  • Hereditary coproporphyria5 tests
  • Hereditary diffuse gastric cancer19 tests
  • Hereditary diffuse leukoencephalopathy with spheroids4 tests
  • Hereditary disease122 tests
  • Hereditary essential tremor 11 test
  • Hereditary factor IX deficiency disease4 tests
  • Hereditary factor VIII deficiency disease4 tests
  • Hereditary factor XI deficiency disease5 tests
  • Hereditary fructosuria5 tests
  • Hereditary hemorrhagic telangiectasia type 16 tests
  • Hereditary hyperferritinemia with congenital cataracts8 tests
  • Hereditary insensitivity to pain with anhidrosis3 tests
  • Hereditary leiomyomatosis and renal cell cancer8 tests
  • Hereditary liability to pressure palsies5 tests
  • Hereditary lymphedema1 test
  • Hereditary lymphedema type I4 tests
  • Hereditary mixed polyposis syndrome 11 test
  • Hereditary mixed polyposis syndrome 26 tests
  • Hereditary motor and sensory neuropathy with optic atrophy9 tests
  • Hereditary motor and sensory neuropathy, Okinawa type3 tests
  • Hereditary nonpolyposis colorectal cancer type 412 tests
  • Hereditary nonpolyposis colorectal cancer type 513 tests
  • Hereditary nonpolyposis colorectal cancer type 610 tests
  • Hereditary nonpolyposis colorectal cancer type 74 tests
  • Hereditary nonpolyposis colorectal cancer type 812 tests
  • Hereditary optic neuropathy1 test
  • Hereditary pancreatitis15 tests
  • Hereditary pyropoikilocytosis2 tests
  • Hereditary sensory and autonomic neuropathy type 13 tests
  • Hereditary sensory and autonomic neuropathy type IC3 tests
  • Hereditary sensory and autonomic neuropathy type IIA9 tests
  • Hereditary sensory and autonomic neuropathy type IIB2 tests
  • Hereditary sensory and autonomic neuropathy type IIC5 tests
  • Hereditary sensory neuropathy type 1D7 tests
  • Hereditary sensory neuropathy type IE4 tests
  • Hereditary sensory neuropathy type IF2 tests
  • Hereditary spastic paraplegia1 test
  • Hereditary spastic paraplegia 105 tests
  • Hereditary spastic paraplegia 124 tests
  • Hereditary spastic paraplegia 137 tests
  • Hereditary spastic paraplegia 154 tests
  • Hereditary spastic paraplegia 181 test
  • Hereditary spastic paraplegia 211 tests
  • Hereditary spastic paraplegia 234 tests
  • Hereditary spastic paraplegia 264 tests
  • Hereditary spastic paraplegia 398 tests
  • Hereditary spastic paraplegia 3A7 tests
  • Hereditary spastic paraplegia 5A4 tests
  • Hereditary spastic paraplegia 63 tests
  • Hereditary spastic paraplegia 78 tests
  • Hereditary spastic paraplegia 86 tests
  • Hereditary spastic paraplegia 9A6 tests
  • Hereditary xanthinuria type 11 test
  • Hermansky-Pudlak syndrome 16 tests
  • Hermansky-Pudlak syndrome 103 tests
  • Hermansky-Pudlak syndrome 29 tests
  • Hermansky-Pudlak syndrome 35 tests
  • Hermansky-Pudlak syndrome 46 tests
  • Hermansky-Pudlak syndrome 55 tests
  • Hermansky-Pudlak syndrome 67 tests
  • Hermansky-Pudlak syndrome 75 tests
  • Hermansky-Pudlak syndrome 86 tests
  • Hermansky-Pudlak syndrome 93 tests
  • Herpes simplex encephalitis 11 test
  • Herpes simplex encephalitis 21 test
  • Herpes simplex encephalitis, susceptibility to, 31 test
  • Herpes simplex encephalitis, susceptibility to, 41 test
  • Herpes simplex encephalitis, susceptibility to, 71 test
  • Heterotaxy1 test
  • Heterotaxy, visceral, 1, X-linked6 tests
  • Heterotaxy, visceral, 2, autosomal3 tests
  • Heterotaxy, visceral, 4, autosomal3 tests
  • Heterotaxy, visceral, 6, autosomal1 test
  • Heterotaxy, visceral, 7, autosomal1 test
  • Heterotaxy, visceral, 8, autosomal2 tests
  • Heterotopia, periventricular, autosomal recessive2 tests
  • Heyn-Sproul-Jackson syndrome1 test
  • Hidrotic ectodermal dysplasia syndrome5 tests
  • High molecular weight kininogen deficiency1 test
  • Hip osteoarthritis4 tests
  • Hirschsprung disease 110 tests
  • Hirschsprung disease 25 tests
  • Hirschsprung disease 36 tests
  • Hirschsprung disease 46 tests
  • Hirschsprung disease, cardiac defects, and autonomic dysfunction1 test
  • Histiocytic medullary reticulosis11 tests
  • Histiocytoid cardiomyopathy1 test
  • Histiocytosis-lymphadenopathy plus syndrome3 tests
  • HNSHA due to aldolase A deficiency3 tests
  • Holocarboxylase synthetase deficiency2 tests
  • Holoprosencephaly 113 tests
  • Holoprosencephaly 24 tests
  • Holoprosencephaly 39 tests
  • Holoprosencephaly 42 tests
  • Holoprosencephaly 53 tests
  • Holoprosencephaly 77 tests
  • Holoprosencephaly 97 tests
  • Holoprosencephaly sequence2 tests
  • Holt-Oram syndrome3 tests
  • Homocystinuria due to methylene tetrahydrofolate reductase deficiency6 tests
  • Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type3 tests
  • HSD10 disease3 tests
  • Human HOXA1 syndromes2 tests
  • Human immunodeficiency virus type 1, susceptibility to4 tests
  • Huntington disease2 tests
  • Huntington disease-like 110 tests
  • Huntington disease-like 21 test
  • Hurler syndrome7 tests
  • Hurthle cell carcinoma of thyroid2 tests
  • Hutchinson-Gilford syndrome22 tests
  • Hyaline fibromatosis syndrome2 tests
  • Hydatidiform mole, recurrent1 test
  • Hydatidiform mole, recurrent, 11 test
  • Hydatidiform mole, recurrent, 21 test
  • Hydrocephalus, congenital, 2, with or without brain or eye anomalies1 test
  • Hydrolethalus syndrome 13 tests
  • Hydrolethalus syndrome 211 tests
  • HYDROPS FETALIS, ALPHA-THALASSEMIA-RELATED1 test
  • Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to3 tests
  • Hydrops, lactic acidosis, and sideroblastic anemia3 tests
  • Hydroxykynureninuria1 test
  • Hyper-IgE recurrent infection syndrome 1, autosomal dominant8 tests
  • Hyper-IgE recurrent infection syndrome 3, autosomal recessive2 tests
  • Hyper-IgM syndrome type 14 tests
  • Hyper-IgM syndrome type 23 tests
  • Hyper-IgM syndrome type 32 tests
  • Hyper-IgM syndrome type 53 tests
  • Hyperaldosteronism, familial, type I5 tests
  • Hyperaldosteronism, familial, type II7 tests
  • Hyperaldosteronism, familial, type IV5 tests
  • Hyperalphalipoproteinemia 11 test
  • Hyperalphalipoproteinemia 21 test
  • Hyperammonemia, type III1 test
  • Hypercalcemia1 test
  • Hypercalcemia, infantile, 12 tests
  • Hypercalcemia, infantile, 22 tests
  • Hypercholanemia, familial5 tests
  • Hypercoagulability2 tests
  • Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency1 test
  • Hyperekplexia 15 tests
  • Hyperekplexia 23 tests
  • Hyperekplexia 33 tests
  • Hypereosinophilic syndrome, idiopathic, resistant to imatinib1 test
  • Hyperglycinuria2 tests
  • Hyperhistidinemia1 test
  • Hyperimmunoglobulin D with periodic fever7 tests
  • Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive5 tests
  • Hyperinsulinemic hypoglycemia familial 55 tests
  • Hyperinsulinemic hypoglycemia, familial, 112 tests
  • Hyperinsulinemic hypoglycemia, familial, 29 tests
  • Hyperinsulinemic hypoglycemia, familial, 43 tests
  • Hyperinsulinism due to glucokinase deficiency7 tests
  • Hyperinsulinism-hyperammonemia syndrome3 tests
  • Hyperlipidemia, familial combined, LPL related3 tests
  • Hyperlipoproteinemia type IV1 test
  • Hyperlipoproteinemia, type I3 tests
  • Hyperlipoproteinemia, type ID1 test
  • Hypermanganesemia with dystonia 21 test
  • Hypermanganesemia with dystonia, polycythemia, and cirrhosis3 tests
  • Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency1 test
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome2 tests
  • Hyperparathyroidism 16 tests
  • Hyperparathyroidism 26 tests
  • Hyperparathyroidism 44 tests
  • Hyperphenylalaninemia, BH4-deficient, D3 tests
  • Hyperphenylalaninemia, non-pku1 test
  • Hyperphosphatasemia tarda3 tests
  • Hyperphosphatasemia with bone disease1 test
  • Hyperphosphatasia with mental retardation syndrome 13 tests
  • Hyperphosphatasia with mental retardation syndrome 22 tests
  • Hyperphosphatasia with mental retardation syndrome 31 test
  • Hyperphosphatasia-intellectual disability syndrome1 test
  • Hyperphosphatemic familial tumoral calcinosis 13 tests
  • Hyperphosphatemic familial tumoral calcinosis 32 tests
  • Hyperproinsulinemia6 tests
  • Hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy4 tests
  • Hypertensive disorder1 test
  • Hyperthyroidism, familial gestational1 test
  • Hyperthyroidism, nonautoimmune1 test
  • Hyperthyroxinemia, familial dysalbuminemic1 test
  • Hypertrichotic osteochondrodysplasia Cantu type6 tests
  • Hypertriglyceridemia, transient infantile2 tests
  • Hypertrophic cardiomyopathy 2512 tests
  • Hypertrophic osteoarthropathy, primary, autosomal recessive, 11 test
  • Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis2 tests
  • Hyperuricemic nephropathy, familial juvenile, 25 tests
  • Hyperuricemic nephropathy, familial juvenile, 41 test
  • Hypoalphalipoproteinemia, primary, 15 tests
  • Hypobetalipoproteinemia, familial, 13 tests
  • Hypocalcemia, autosomal dominant 17 tests
  • Hypocalciuric hypercalcemia, familial, type 17 tests
  • Hypocalciuric hypercalcemia, familial, type II4 tests
  • Hypocalciuric hypercalcemia, familial, type III2 tests
  • Hypochondroplasia11 tests
  • Hypochromic microcytic anemia with iron overload 21 test
  • Hypoglycemia1 test
  • Hypoglycemia, neonatal, simulating foetopathia diabetica3 tests
  • Hypogonadism with anosmia3 tests
  • Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities2 tests
  • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)4 tests
  • Hypogonadotropic hypogonadism 10 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 11 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 12 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 13 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 14 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 15 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 16 with or without anosmia3 tests
  • Hypogonadotropic hypogonadism 17 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 18 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 19 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 2 with or without anosmia13 tests
  • Hypogonadotropic hypogonadism 20 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 21 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 22 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 24 without anosmia2 tests
  • Hypogonadotropic hypogonadism 4 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 5 with or without anosmia11 tests
  • Hypogonadotropic hypogonadism 6 with or without anosmia6 tests
  • Hypogonadotropic hypogonadism 7 with or without anosmia12 tests
  • Hypogonadotropic hypogonadism 8 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 9 with or without anosmia2 tests
  • Hypohidrotic X-linked ectodermal dysplasia2 tests
  • Hypokalemic periodic paralysis 113 tests
  • Hypokalemic periodic paralysis, type 211 tests
  • Hypomagnesemia 1, intestinal5 tests
  • Hypomagnesemia 4, renal2 tests
  • Hypomagnesemia 5, renal, with ocular involvement2 tests
  • Hypomagnesemia 6, renal2 tests
  • Hypomagnesemia, seizures, and mental retardation 12 tests
  • Hypomagnesemia, seizures, and mental retardation 22 tests
  • Hypomyelinating leukodystrophy 35 tests
  • Hypomyelinating leukodystrophy 78 tests
  • Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism4 tests
  • Hypomyelination and Congenital Cataract7 tests
  • Hypomyelination, global cerebral4 tests
  • Hypoparathyroidism, deafness, renal disease syndrome7 tests
  • Hypoparathyroidism-retardation-dysmorphism syndrome6 tests
  • Hypophosphatemic rickets, autosomal recessive, 23 tests
  • Hypophosphatemic rickets, X-linked recessive5 tests
  • Hypoplastic enamel-onycholysis-hypohidrosis syndrome3 tests
  • Hypoplastic left heart syndrome 15 tests
  • Hypoplastic left heart syndrome 25 tests
  • Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration5 tests
  • Hypoproteinemia, hypercatabolic2 tests
  • Hypospadias 1, X-linked8 tests
  • Hypospadias 2, X-linked4 tests
  • Hypothalamic hypothyroidism1 test
  • Hypothyroidism, central, and testicular enlargement1 test
  • Hypothyroidism, congenital, nongoitrous, 11 test
  • Hypothyroidism, congenital, nongoitrous, 22 tests
  • Hypothyroidism, congenital, nongoitrous, 55 tests
  • Hypothyroidism, congenital, nongoitrous, 61 test
  • Hypotonia, ataxia, and delayed development syndrome1 test
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 13 tests
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 22 tests
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 32 tests
  • Hypotrichosis 12 tests
  • Hypotrichosis 112 tests
  • Hypotrichosis 121 test
  • Hypotrichosis 133 tests
  • Hypotrichosis 23 tests
  • Hypotrichosis 33 tests
  • Hypotrichosis 43 tests
  • Hypotrichosis 63 tests
  • Hypotrichosis 73 tests
  • Hypotrichosis 83 tests
  • Hypotrichosis-lymphedema-telangiectasia syndrome1 test
  • Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome1 test
  • Hystrix-like ichthyosis with deafness6 tests
  • Ichthyosis bullosa of Siemens2 tests
  • Ichthyosis hystrix of Curth-Macklin4 tests
  • Ichthyosis prematurity syndrome2 tests
  • Ichthyosis vulgaris3 tests
  • Ichthyosis, congenital, autosomal recessive 113 tests
  • Ichthyosis, congenital, autosomal recessive 121 test
  • Ichthyosis, congenital, autosomal recessive 132 tests
  • Ichthyosis, congenital, autosomal recessive 141 test
  • Ichthyosis, cyclic, with epidermolytic hyperkeratosis5 tests
  • Idiopathic basal ganglia calcification 16 tests
  • Idiopathic basal ganglia calcification 51 test
  • Idiopathic hypereosinophilic syndrome2 tests
  • Idiopathic nephrotic syndrome6 tests
  • Idiopathic Pulmonary Fibrosis8 tests
  • IFAP syndrome with or without BRESHECK syndrome5 tests
  • Ige responsiveness, atopic1 test
  • IL21R immunodeficiency1 test
  • Imagawa-Matsumoto syndrome1 test
  • Imerslund-Gräsbeck syndrome 15 tests
  • Iminoglycinuria2 tests
  • Immunodeficiency 112 tests
  • Immunodeficiency 123 tests
  • Immunodeficiency 133 tests
  • Immunodeficiency 144 tests
  • Immunodeficiency 151 test
  • Immunodeficiency 161 test
  • Immunodeficiency 173 tests
  • Immunodeficiency 181 test
  • Immunodeficiency 191 test
  • Immunodeficiency 201 test
  • Immunodeficiency 221 test
  • Immunodeficiency 233 tests
  • Immunodeficiency 241 test
  • Immunodeficiency 26 with or without neurologic abnormalities1 test
  • Immunodeficiency 27A2 tests
  • Immunodeficiency 27b2 tests
  • Immunodeficiency 283 tests
  • Immunodeficiency 292 tests
  • Immunodeficiency 302 tests
  • Immunodeficiency 31a3 tests
  • Immunodeficiency 31C3 tests
  • Immunodeficiency 32a1 test
  • Immunodeficiency 32b1 test
  • Immunodeficiency 352 tests
  • Immunodeficiency 363 tests
  • Immunodeficiency 371 test
  • Immunodeficiency 38 with basal ganglia calcification1 test
  • Immunodeficiency 391 test
  • Immunodeficiency 401 test
  • Immunodeficiency 421 test
  • Immunodeficiency 442 tests
  • Immunodeficiency 451 test
  • Immunodeficiency 462 tests
  • Immunodeficiency 472 tests
  • Immunodeficiency 491 test
  • Immunodeficiency 501 test
  • Immunodeficiency 513 tests
  • Immunodeficiency 521 test
  • Immunodeficiency 531 test
  • Immunodeficiency 601 test
  • Immunodeficiency 641 test
  • Immunodeficiency 662 tests
  • Immunodeficiency 674 tests
  • Immunodeficiency 82 tests
  • Immunodeficiency due to defect in cd3-zeta1 test
  • Immunodeficiency due to defect in mapbp-interacting protein3 tests
  • Immunodeficiency without anhidrotic ectodermal dysplasia1 test
  • Immunodeficiency, common variable, 123 tests
  • Immunodeficiency, common variable, 134 tests
  • Immunodeficiency, common variable, 142 tests
  • Immunodeficiency, developmental delay, and hypohomocysteinemia1 test
  • Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia5 tests
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 13 tests
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 22 tests
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 31 test
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 41 test
  • Immunoglobulin A deficiency 24 tests
  • Immunoglobulin kappa light chain deficiency1 test
  • Immunoskeletal dysplasia with neurodevelopmental abnormalities1 test
  • Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 18 tests
  • Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 22 tests
  • Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 34 tests
  • Incontinentia pigmenti syndrome4 tests
  • Indifference to pain, congenital, autosomal recessive5 tests
  • Infantile cerebellar-retinal degeneration6 tests
  • Infantile convulsions and choreoathetosis7 tests
  • Infantile cortical hyperostosis5 tests
  • Infantile GM1 gangliosidosis8 tests
  • Infantile hypophosphatasia7 tests
  • Infantile liver failure syndrome 21 test
  • Infantile myofibromatosis 13 tests
  • Infantile myofibromatosis 26 tests
  • Infantile nephronophthisis6 tests
  • Infantile neuroaxonal dystrophy5 tests
  • Infantile nystagmus, X-linked1 test
  • Infantile onset spinocerebellar ataxia9 tests
  • Infantile-onset ascending hereditary spastic paralysis4 tests
  • Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations2 tests
  • Infertility1 test
  • Infertility associated with multi-tailed spermatozoa and excessive DNA4 tests
  • Inflammatory bowel disease 13 tests
  • Inflammatory bowel disease 101 test
  • Inflammatory bowel disease 131 test
  • Inflammatory bowel disease 171 test
  • Inflammatory bowel disease 191 test
  • Inflammatory bowel disease 25, autosomal recessive4 tests
  • Inflammatory bowel disease 28, autosomal recessive3 tests
  • Inflammatory skin and bowel disease, neonatal 13 tests
  • Inflammatory skin and bowel disease, neonatal, 22 tests
  • Inosine triphosphatase deficiency2 tests
  • Insulin-dependent diabetes mellitus secretory diarrhea syndrome5 tests
  • Insulin-resistant diabetes mellitus AND acanthosis nigricans5 tests
  • Intellectual developmental disorder and retinitis pigmentosa; IDDRP1 test
  • Intellectual developmental disorder with cardiac arrhythmia1 test
  • Intellectual developmental disorder with cardiac defects and dysmorphic facies1 test
  • Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies2 tests
  • Intellectual developmental disorder with neuropsychiatric features1 test
  • Intellectual developmental disorder with persistence of fetal hemoglobin1 test
  • Intellectual developmental disorder, autosomal recessive 691 test
  • Intellectual disability5 tests
  • Intellectual disability, autosomal dominant 95 tests
  • Intellectual disability, autosomal recessive 651 test
  • Intellectual disability, X-linked 211 test
  • Intellectual disability, X-linked syndromic, Turner type2 tests
  • Interleukin 2 receptor, alpha, deficiency of3 tests
  • Interstitial lung and liver disease2 tests
  • Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital2 tests
  • Interstitial nephritis, karyomegalic1 test
  • Intervertebral disc disorder9 tests
  • Intestinal pseudo-obstruction1 test
  • Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked9 tests
  • Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies9 tests
  • Intrinsic factor deficiency2 tests
  • Invasive pneumococcal disease, recurrent isolated, 14 tests
  • Iodotyrosine deiodination defect1 test
  • Iodotyrosyl coupling defect3 tests
  • Irido-corneo-trabecular dysgenesis9 tests
  • Iron-refractory iron deficiency anemia1 test
  • Ischemic stroke, susceptibility to9 tests
  • Islet cell adenomatosis1 test
  • Isolated growth hormone deficiency1 test
  • Isolated growth hormone deficiency type IB4 tests
  • Isolated growth hormone deficiency, type 41 test
  • Isolated lutropin deficiency2 tests
  • Isolated sulfite oxidase deficiency3 tests
  • Isovaleryl-CoA dehydrogenase deficiency2 tests
  • Jackson-Weiss syndrome21 tests
  • Jalili syndrome3 tests
  • Jervell and Lange-Nielsen syndrome 114 tests
  • Jervell and Lange-Nielsen syndrome 29 tests
  • Joubert syndrome 18 tests
  • Joubert syndrome 1010 tests
  • Joubert syndrome 134 tests
  • Joubert syndrome 144 tests
  • Joubert syndrome 154 tests
  • Joubert syndrome 163 tests
  • Joubert syndrome 177 tests
  • Joubert syndrome 212 tests
  • Joubert syndrome 204 tests
  • Joubert syndrome 211 test
  • Joubert syndrome 241 test
  • Joubert syndrome 272 tests
  • Joubert syndrome 39 tests
  • Joubert syndrome 413 tests
  • Joubert syndrome 512 tests
  • Joubert syndrome 611 tests
  • Joubert syndrome 711 tests
  • Joubert syndrome 87 tests
  • Joubert syndrome 912 tests
  • Junctional epidermolysis bullosa gravis of Herlitz5 tests
  • Junctional epidermolysis bullosa, non-Herlitz type7 tests
  • Juvenile myelomonocytic leukemia23 tests
  • Juvenile myoclonic epilepsy1 test
  • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke3 tests
  • Juvenile nephropathic cystinosis5 tests
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome11 tests
  • Juvenile primary lateral sclerosis4 tests
  • Juvenile retinoschisis5 tests
  • Kabuki syndrome 19 tests
  • Kabuki syndrome 25 tests
  • Kahrizi syndrome5 tests
  • Kallmann syndrome 33 tests
  • Kartagener syndrome3 tests
  • Kaufman oculocerebrofacial syndrome2 tests
  • KBG syndrome4 tests
  • Kearns Sayre syndrome1 test
  • Kell blood group system1 test
  • Kennedy disease8 tests
  • Kenny-Caffey syndrome type 26 tests
  • Keppen-Lubinsky syndrome1 test
  • Keratitis, hereditary9 tests
  • Keratitis-ichthyosis-deafness syndrome, autosomal dominant6 tests
  • Keratoconus 12 tests
  • Keratoderma with scleroatrophy of the extremities1 test
  • Keratosis follicularis5 tests
  • Keratosis follicularis spinulosa decalvans, X-linked5 tests
  • Keratosis linearis with ichthyosis congenita and sclerosing keratoderma3 tests
  • Keratosis palmoplantaris striata 34 tests
  • Keratosis palmoplantaris striata II5 tests
  • Keratosis pilaris1 test
  • Keutel syndrome2 tests
  • Khan-Khan-Katsanis syndrome1 test
  • Kindler syndrome3 tests
  • Kleefstra syndrome1 test
  • Kleefstra syndrome 14 tests
  • Klinefelter syndrome2 tests
  • Klippel-Feil syndrome 1, autosomal dominant6 tests
  • Klippel-Feil syndrome 2, autosomal recessive4 tests
  • Klippel-Feil syndrome 3, autosomal dominant4 tests
  • Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism2 tests
  • Kniest dysplasia18 tests
  • Knobloch syndrome 14 tests
  • Knuckle pads, deafness AND leukonychia syndrome6 tests
  • Koolen-de Vries syndrome4 tests
  • Kosaki overgrowth syndrome3 tests
  • Kostmann syndrome5 tests
  • Krabbe disease, atypical, due to saposin A deficiency6 tests
  • Kufor-Rakeb syndrome7 tests
  • Kugelberg-Welander disease4 tests
  • Kuru, susceptibility to10 tests
  • L-2-hydroxyglutaric aciduria4 tests
  • L-ferritin deficiency7 tests
  • Lafora disease5 tests
  • Lamb-shaffer syndrome1 test
  • Langer mesomelic dysplasia syndrome7 tests
  • Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia1 test
  • Large congenital melanocytic nevus11 tests
  • Laron-type isolated somatotropin defect4 tests
  • Larsen syndrome5 tests
  • Laryngo-onycho-cutaneous syndrome3 tests
  • Late-onset retinal degeneration6 tests
  • Lateral meningocele syndrome7 tests
  • Lathosterolosis3 tests
  • Lattice corneal dystrophy Type I2 tests
  • Lattice corneal dystrophy Type III1 test
  • Laurence-Moon syndrome8 tests
  • Laurin-Sandrow syndrome1 test
  • LCAT deficiency4 tests
  • Learning difficulties1 test
  • Leber congenital amaurosis 16 tests
  • Leber congenital amaurosis 1012 tests
  • Leber congenital amaurosis 115 tests
  • Leber congenital amaurosis 124 tests
  • Leber congenital amaurosis 137 tests
  • Leber congenital amaurosis 144 tests
  • Leber congenital amaurosis 155 tests
  • Leber congenital amaurosis 164 tests
  • Leber congenital amaurosis 176 tests
  • Leber congenital amaurosis 25 tests
  • Leber congenital amaurosis 34 tests
  • Leber congenital amaurosis 46 tests
  • Leber congenital amaurosis 55 tests
  • Leber congenital amaurosis 65 tests
  • Leber congenital amaurosis 75 tests
  • Leber congenital amaurosis 86 tests
  • Leber congenital amaurosis 94 tests
  • Leber hereditary optic neuropathy, autosomal recessive1 test
  • Leber optic atrophy10 tests
  • Left ventricular noncompaction 12 tests
  • Left ventricular noncompaction 109 tests
  • Left ventricular noncompaction 68 tests
  • Left ventricular noncompaction 71 test
  • Left ventricular noncompaction 82 tests
  • Left-right axis malformations1 test
  • Legius syndrome3 tests
  • Leigh syndrome38 tests
  • Lenz microphthalmia syndrome11 tests
  • Lenz-Majewski hyperostosis syndrome1 test
  • LEOPARD syndrome 112 tests
  • LEOPARD syndrome 28 tests
  • LEOPARD syndrome 38 tests
  • Leprechaunism syndrome5 tests
  • Leptin deficiency or dysfunction3 tests
  • Leptin receptor deficiency3 tests
  • Leri-Weill dyschondrosteosis8 tests
  • Lesch-Nyhan syndrome3 tests
  • Lethal acantholytic epidermolysis bullosa5 tests
  • Lethal arthrogryposis with anterior horn cell disease4 tests
  • Lethal congenital contractural syndrome 31 test
  • Lethal congenital contracture syndrome 14 tests
  • Lethal congenital contracture syndrome 102 tests
  • Lethal congenital contracture syndrome 111 test
  • Lethal congenital contracture syndrome 22 tests
  • Lethal congenital contracture syndrome 44 tests
  • Lethal congenital contracture syndrome 59 tests
  • Lethal congenital contracture syndrome 74 tests
  • Lethal congenital contracture syndrome 82 tests
  • Lethal congenital contracture syndrome 93 tests
  • Lethal Kniest-like syndrome3 tests
  • Lethal multiple pterygium syndrome16 tests
  • Lethal osteosclerotic bone dysplasia4 tests
  • Lethal tight skin contracture syndrome24 tests
  • Leucine-induced hypoglycemia12 tests
  • Leukemia, acute lymphoblastic, susceptibility to, 31 test
  • Leukemia, post-chemotherapy, susceptibility to1 test
  • Leukocyte adhesion deficiency 14 tests
  • Leukocyte adhesion deficiency type II3 tests
  • Leukocyte adhesion deficiency, type III3 tests
  • Leukodystrophy and acquired microcephaly with or without dystonia2 tests
  • Leukodystrophy, adult-onset, autosomal dominant5 tests
  • Leukodystrophy, hypomyelinating, 102 tests
  • Leukodystrophy, hypomyelinating, 116 tests
  • Leukodystrophy, hypomyelinating, 122 tests
  • Leukodystrophy, hypomyelinating, 132 tests
  • Leukodystrophy, hypomyelinating, 172 tests
  • Leukodystrophy, hypomyelinating, 182 tests
  • Leukodystrophy, hypomyelinating, 210 tests
  • Leukodystrophy, hypomyelinating, 47 tests
  • Leukoencephalopathy with ataxia7 tests
  • Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome8 tests
  • Leukoencephalopathy with dystonia and motor neuropathy6 tests
  • Leukoencephalopathy with vanishing white matter13 tests
  • Leukoencephalopathy, cystic, without megalencephaly3 tests
  • Leukoencephalopathy, progressive, with ovarian failure3 tests
  • Levy-Hollister syndrome22 tests
  • Lewy body dementia21 tests
  • Leydig cell hypoplasia, type 16 tests
  • Li-Fraumeni syndrome 110 tests
  • Li-Fraumeni syndrome 29 tests
  • Lichtenstein-knorr syndrome1 test
  • Liddle syndrome 14 tests
  • Liebenberg syndrome3 tests
  • Lig4 syndrome4 tests
  • Limb-girdle muscular dystrophy, type 1E3 tests
  • Limb-girdle muscular dystrophy, type 1F1 test
  • Limb-girdle muscular dystrophy, type 1G1 test
  • Limb-girdle muscular dystrophy, type 2A4 tests
  • Limb-girdle muscular dystrophy, type 2J12 tests
  • Limb-girdle muscular dystrophy, type 2L6 tests
  • Limb-girdle muscular dystrophy, type 2Q7 tests
  • Limb-girdle muscular dystrophy, type 2S2 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C17 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C27 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C36 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C49 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C57 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C96 tests
  • Limb-mammary syndrome8 tests
  • Linear skin defects with multiple congenital anomalies 14 tests
  • Linear skin defects with multiple congenital anomalies 21 test
  • Linear skin defects with multiple congenital anomalies 31 test
  • Lipase deficiency, combined1 test
  • Lipid proteinosis3 tests
  • Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency2 tests
  • Lipodystrophy, congenital generalized, type 32 tests
  • Lipodystrophy, congenital generalized, type 42 tests
  • Lipoprotein glomerulopathy4 tests
  • Lipoyltransferase 1 deficiency2 tests
  • Lissencephaly 2, X-linked7 tests
  • Lissencephaly 33 tests
  • Lissencephaly 41 test
  • Lissencephaly 55 tests
  • Lissencephaly 6, with microcephaly1 test
  • Lissencephaly 7 with cerebellar hypoplasia1 test
  • Lissencephaly due to LIS1 mutation3 tests
  • Lissencephaly, X-linked2 tests
  • Localized epidermolysis bullosa simplex7 tests
  • Loeys-Dietz syndrome 18 tests
  • Loeys-Dietz syndrome 210 tests
  • Loeys-Dietz syndrome 34 tests
  • Loeys-Dietz syndrome 42 tests
  • Loeys-Dietz syndrome 56 tests
  • Long chain acyl-CoA dehydrogenase deficiency1 test
  • Long QT syndrome3 tests
  • Long QT syndrome 114 tests
  • Long QT syndrome 105 tests
  • Long QT syndrome 115 tests
  • Long QT syndrome 124 tests
  • Long QT syndrome 139 tests
  • Long QT syndrome 146 tests
  • Long QT syndrome 152 tests
  • Long QT syndrome 29 tests
  • Long QT syndrome 311 tests
  • Long QT syndrome 59 tests
  • Long QT syndrome 66 tests
  • Long QT syndrome 99 tests
  • Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency10 tests
  • Low phospholipid associated cholelithiasis4 tests
  • Lowe syndrome7 tests
  • Lucey-Driscoll syndrome7 tests
  • Lung adenocarcinoma1 test
  • Lung cancer1 test
  • Lung carcinoma36 tests
  • Lung disease, immunodeficiency, and chromosome breakage syndrome1 test
  • Luscan-lumish syndrome1 test
  • Lymphangiomyomatosis12 tests
  • Lymphatic malformation 310 tests
  • Lymphedema, hereditary, ID2 tests
  • Lymphedema, hereditary, III3 tests
  • Lymphedema, primary, with myelodysplasia8 tests
  • Lymphoid leukemia6 tests
  • Lymphoma, Non-Hodgkin, Familial1 test
  • Lymphoproliferative syndrome 14 tests
  • Lymphoproliferative syndrome 1, X-linked6 tests
  • Lymphoproliferative syndrome 23 tests
  • Lymphoproliferative syndrome 2, X-linked5 tests
  • Lynch syndrome2 tests
  • Lynch syndrome I15 tests
  • Lynch syndrome II14 tests
  • Lysinuric protein intolerance1 test
  • Lysosomal acid lipase deficiency8 tests
  • Macrocephaly with multiple epiphyseal dysplasia and distinctive facies11 tests
  • Macrocephaly, alopecia, cutis laxa, and scoliosis2 tests
  • Macrocephaly, dysmorphic facies, and psychomotor retardation3 tests
  • Macrocephaly/autism syndrome17 tests
  • Macrocephaly/megalencephaly syndrome, autosomal recessive1 test
  • Macroglobulinemia, Waldenstrom, susceptibility to, 12 tests
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss9 tests
  • Macular corneal dystrophy1 test
  • Macular degeneration, early-onset4 tests
  • Macular degeneration, X-linked atrophic7 tests
  • Macular dystrophy with central cone involvement3 tests
  • Macular dystrophy, patterned, 112 tests
  • Macular dystrophy, vitelliform, 45 tests
  • Macular dystrophy, vitelliform, 55 tests
  • Macular dystrophy, vitelliform, adult-onset12 tests
  • Majeed syndrome3 tests
  • Male infertility1 test
  • Male pseudohermaphroditism2 tests
  • Maleylacetoacetate isomerase deficiency1 test
  • Malignant hyperthermia, susceptibility to, 110 tests
  • Malignant hyperthermia, susceptibility to, 55 tests
  • Malignant lymphoma, large B-cell, diffuse1 test
  • Malignant tumor of esophagus16 tests
  • Malignant tumor of prostate42 tests
  • Malignant tumor of testis25 tests
  • Malignant tumor of urinary bladder28 tests
  • Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome3 tests
  • Mandibuloacral dysplasia with type A lipodystrophy22 tests
  • Mandibuloacral dysplasia with type B lipodystrophy5 tests
  • Mandibulofacial dysostosis with alopecia1 test
  • Mandibulofacial dysostosis-microcephaly syndrome4 tests
  • Mannose-binding protein deficiency1 test
  • Maple syrup urine disease11 tests
  • Maple syrup urine disease, type 38 tests
  • Marden-Walker syndrome5 tests
  • Marfan lipodystrophy syndrome5 tests
  • Marfan syndrome5 tests
  • Marinesco-Sjögren syndrome7 tests
  • Marshall syndrome6 tests
  • Marshall-Smith syndrome5 tests
  • MASA syndrome6 tests
  • MASP2 deficiency1 test
  • MASS syndrome5 tests
  • Mast syndrome2 tests
  • Mastocytosis7 tests
  • Matthew-Wood syndrome5 tests
  • Maturity onset diabetes mellitus in young1 test
  • Maturity-onset diabetes of the young type 47 tests
  • Maturity-onset diabetes of the young type 64 tests
  • Maturity-onset diabetes of the young type 74 tests
  • Maturity-onset diabetes of the young type 84 tests
  • Maturity-onset diabetes of the young type 94 tests
  • Maturity-onset diabetes of the young, type 16 tests
  • Maturity-onset diabetes of the young, type 106 tests
  • Maturity-onset diabetes of the young, type 113 tests
  • Maturity-onset diabetes of the young, type 139 tests
  • Maturity-onset diabetes of the young, type 142 tests
  • Maturity-onset diabetes of the young, type 27 tests
  • Maturity-onset diabetes of the young, type 36 tests
  • McCune-Albright syndrome6 tests
  • McKusick-Kaufman syndrome6 tests
  • McLeod neuroacanthocytosis syndrome5 tests
  • Meacham syndrome14 tests
  • Meckel syndrome 121 test
  • Meckel syndrome 131 test
  • Meckel syndrome type 112 tests
  • Meckel syndrome type 612 tests
  • Meckel syndrome type 711 tests
  • Meckel syndrome type 82 tests
  • Meckel syndrome, type 101 test
  • Meckel syndrome, type 113 tests
  • Meckel syndrome, type 212 tests
  • Meckel syndrome, type 311 tests
  • Meckel syndrome, type 412 tests
  • Meckel syndrome, type 511 tests
  • Meckel syndrome, type 93 tests
  • Meckel-Gruber syndrome1 test
  • Meconium ileus1 test
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency7 tests
  • Medullary cystic kidney disease 14 tests
  • Medulloblastoma20 tests
  • Megaconial type congenital muscular dystrophy6 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 17 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 2a4 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation4 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 15 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 24 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 33 tests
  • Megaloblastic anemia due to dihydrofolate reductase deficiency1 test
  • Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness6 tests
  • Megalocornea1 test
  • MEHMO syndrome1 test
  • Meier-Gorlin syndrome 13 tests
  • Meier-Gorlin syndrome 22 tests
  • Meier-Gorlin syndrome 31 test
  • Meier-Gorlin syndrome 42 tests
  • Meier-Gorlin syndrome 51 test
  • Meier-gorlin syndrome 61 test
  • Meier-gorlin syndrome 72 tests
  • Meier-Gorlin syndrome 81 test
  • Melanoma1 test
  • Melanoma and neural system tumor syndrome6 tests
  • Melanoma, cutaneous malignant, susceptibility to, 102 tests
  • Melanoma-pancreatic cancer syndrome6 tests
  • Melnick-Needles syndrome9 tests
  • MEND syndrome6 tests
  • Meningioma, familial30 tests
  • Menkes kinky-hair syndrome6 tests
  • Mental retardation 30, X-linked1 test
  • Mental retardation 46, X-linked1 test
  • Mental retardation 58, X-linked1 test
  • Mental retardation 63, X-linked1 test
  • Mental retardation 9, X-linked1 test
  • Mental retardation 91, X-linked1 test
  • Mental retardation 92, X-linked1 test
  • Mental retardation and distinctive facial features with or without cardiac defects4 tests
  • Mental retardation and microcephaly with pontine and cerebellar hypoplasia6 tests
  • Mental retardation with language impairment and with or without autistic features1 test
  • Mental retardation with panhypopituitarism, X-linked7 tests
  • Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance3 tests
  • Mental retardation, autosomal dominant 13 tests
  • Mental retardation, autosomal dominant 136 tests
  • Mental retardation, autosomal dominant 142 tests
  • Mental retardation, autosomal dominant 155 tests
  • Mental retardation, autosomal dominant 165 tests
  • Mental retardation, autosomal dominant 194 tests
  • Mental retardation, autosomal dominant 211 test
  • Mental retardation, autosomal dominant 232 tests
  • Mental retardation, autosomal dominant 242 tests
  • Mental retardation, autosomal dominant 262 tests
  • Mental retardation, autosomal dominant 293 tests
  • Mental retardation, autosomal dominant 301 test
  • Mental retardation, autosomal dominant 311 test
  • Mental retardation, autosomal dominant 331 test
  • Mental retardation, autosomal dominant 351 test
  • Mental retardation, autosomal dominant 391 test
  • Mental retardation, autosomal dominant 411 test
  • Mental retardation, autosomal dominant 421 test
  • Mental retardation, autosomal dominant 53 tests
  • Mental retardation, autosomal dominant 63 tests
  • Mental retardation, autosomal dominant 75 tests
  • Mental retardation, autosomal recessive 121 test
  • Mental retardation, autosomal recessive 133 tests
  • Mental retardation, autosomal recessive 152 tests
  • Mental retardation, autosomal recessive 181 test
  • Mental retardation, autosomal recessive 271 test
  • Mental retardation, autosomal recessive 33 tests
  • Mental retardation, autosomal recessive 342 tests
  • Mental retardation, autosomal recessive 362 tests
  • Mental retardation, autosomal recessive 372 tests
  • Mental retardation, autosomal recessive 381 test
  • Mental retardation, autosomal recessive 392 tests
  • Mental retardation, autosomal recessive 411 test
  • Mental retardation, autosomal recessive 421 test
  • Mental retardation, autosomal recessive 441 test
  • Mental retardation, autosomal recessive 451 test
  • Mental retardation, autosomal recessive 481 test
  • Mental retardation, autosomal recessive 51 test
  • Mental retardation, autosomal recessive 532 tests
  • Mental retardation, autosomal recessive 561 test
  • Mental retardation, autosomal recessive 71 test
  • Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma3 tests
  • Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations4 tests
  • Mental retardation, syndromic 14, X-linked2 tests
  • Mental retardation, syndromic, Claes-Jensen type, X-linked2 tests
  • Mental retardation, with or without seizures, ARX-related, X-linked7 tests
  • Mental retardation, X-linked 12 tests
  • Mental retardation, X-linked 1021 test
  • Mental retardation, X-linked 1041 test
  • Mental retardation, X-linked 192 tests
  • Mental retardation, X-linked 451 test
  • Mental retardation, X-linked 722 tests
  • Mental retardation, X-linked 932 tests
  • Mental retardation, X-linked 961 test
  • Mental retardation, X-linked 983 tests
  • Mental retardation, X-linked 991 test
  • Mental retardation, X-linked 99, syndromic, female-restricted1 test
  • Mental retardation, X-linked, syndromic 136 tests
  • Mental retardation, X-linked, syndromic 321 test
  • Mental retardation, X-linked, syndromic 333 tests
  • Mental retardation, X-linked, syndromic, Bain type1 test
  • Mental retardation, X-linked, syndromic, Hedera type3 tests
  • Mental retardation, X-linked, syndromic, Raymond type1 test
  • Mental retardation, X-linked, syndromic, wu type1 test
  • Meretoja syndrome2 tests
  • Merosin deficient congenital muscular dystrophy6 tests
  • MERRF syndrome2 tests
  • MERRF/MELAS overlap syndrome2 tests
  • Mesoaxial synostotic syndactyly with phalangeal reduction3 tests
  • Mesothelioma, malignant15 tests
  • Metabolic syndrome X6 tests
  • Metachondromatosis12 tests
  • Metachromatic leukodystrophy10 tests
  • Metaphyseal anadysplasia 21 test
  • Metaphyseal chondrodysplasia, Jansen type1 test
  • Metaphyseal chondrodysplasia, McKusick type4 tests
  • Metaphyseal chondrodysplasia, Schmid type1 test
  • Metaphyseal chondrodysplasia, Spahr type2 tests
  • Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly3 tests
  • Metaphyseal dysplasia without hypotrichosis4 tests
  • Metatrophic dysplasia9 tests
  • Methemoglobinemia type 41 test
  • Methylcobalamin deficiency type cblG3 tests
  • Methylmalonic acidemia with homocystinuria cblD3 tests
  • Methylmalonic acidemia with homocystinuria, type cblJ4 tests
  • Methylmalonic aciduria3 tests
  • Methylmalonic aciduria and homocystinuria type cblF3 tests
  • Methylmalonic aciduria due to transcobalamin receptor defect2 tests
  • Methylmalonyl-CoA epimerase deficiency2 tests
  • Mevalonic aciduria7 tests
  • Microcephalic osteodysplastic primordial dwarfism type II5 tests
  • Microcephaly 16, primary, autosomal recessive1 test
  • Microcephaly 20, primary, autosomal recessive1 test
  • Microcephaly and chorioretinopathy, autosomal recessive, 12 tests
  • Microcephaly with mental retardation and digital anomalies4 tests
  • Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation4 tests
  • Microcephaly, congenital cataract, and psoriasiform dermatitis2 tests
  • Microcephaly, epilepsy, and diabetes syndrome3 tests
  • Microcephaly, normal intelligence and immunodeficiency9 tests
  • Microcephaly, postnatal progressive, with seizures and brain atrophy1 test
  • Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy2 tests
  • Microcephaly, short stature, and impaired glucose metabolism 11 test
  • Microcephaly, short stature, and polymicrogyria with or without seizures1 test
  • Microcephaly-capillary malformation syndrome2 tests
  • Microcornea, myopic chorioretinal atrophy, and telecanthus3 tests
  • Microcytic anemia2 tests
  • Microphthalmia1 test
  • Microphthalmia with brain and digit anomalies9 tests
  • Microphthalmia with limb anomalies4 tests
  • Microphthalmia, isolated 25 tests
  • Microphthalmia, isolated 32 tests
  • Microphthalmia, isolated 45 tests
  • Microphthalmia, isolated 55 tests
  • Microphthalmia, isolated 61 test
  • Microphthalmia, isolated 74 tests
  • Microphthalmia, isolated 82 tests
  • Microphthalmia, isolated, with coloboma 102 tests
  • Microphthalmia, isolated, with coloboma 35 tests
  • Microphthalmia, isolated, with coloboma 59 tests
  • Microphthalmia, isolated, with coloboma 67 tests
  • Microphthalmia, isolated, with coloboma 72 tests
  • Microphthalmia, isolated, with coloboma 91 test
  • Microphthalmia, syndromic 113 tests
  • Microphthalmia, syndromic 124 tests
  • Microphthalmia, syndromic 131 test
  • Microphthalmia/coloboma and skeletal dysplasia syndrome1 test
  • Microspherophakia2 tests
  • Microtia, hearing impairment, and cleft palate1 test
  • Microvascular complications of diabetes 12 tests
  • Microvascular complications of diabetes 35 tests
  • Microvascular complications of diabetes 42 tests
  • Microvascular complications of diabetes 78 tests
  • Migraine3 tests
  • Migraine, with or without aura 131 test
  • Miller Dieker syndrome1 test
  • Miller syndrome4 tests
  • Minicore myopathy with external ophthalmoplegia10 tests
  • Mirage syndrome5 tests
  • Mirror movements 13 tests
  • Mirror movements 22 tests
  • Mitchell-Riley syndrome3 tests
  • mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency2 tests
  • Mitochondrial complex 1 deficiency, nuclear type 191 test
  • Mitochondrial complex 1 deficiency, nuclear type 42 tests
  • Mitochondrial complex I deficiency11 tests
  • Mitochondrial complex I deficiency, nuclear type 15 tests
  • Mitochondrial complex II deficiency, nuclear type 122 tests
  • Mitochondrial complex III deficiency, nuclear type 16 tests
  • Mitochondrial complex III deficiency, nuclear type 23 tests
  • Mitochondrial complex III deficiency, nuclear type 32 tests
  • Mitochondrial complex III deficiency, nuclear type 42 tests
  • Mitochondrial complex III deficiency, nuclear type 52 tests
  • Mitochondrial complex III deficiency, nuclear type 61 test
  • Mitochondrial complex III deficiency, nuclear type 72 tests
  • Mitochondrial complex III deficiency, nuclear type 81 test
  • Mitochondrial complex III deficiency, nuclear type 91 test
  • Mitochondrial complex IV deficiency12 tests
  • Mitochondrial disease3 tests
  • Mitochondrial DNA Deletion Syndromes1 test
  • Mitochondrial DNA depletion syndrome 1 (MNGIE type)22 tests
  • Mitochondrial DNA depletion syndrome 114 tests
  • Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant9 tests
  • Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive9 tests
  • Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)6 tests
  • Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)10 tests
  • Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)1 test
  • Mitochondrial DNA depletion syndrome 25 tests
  • Mitochondrial DNA depletion syndrome 4B, MNGIE type18 tests
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)9 tests
  • Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)3 tests
  • Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy9 tests
  • Mitochondrial DNA-depletion syndrome 3, hepatocerebral7 tests
  • Mitochondrial encephalomyopathy1 test
  • Mitochondrial myopathy2 tests
  • Mitochondrial myopathy, isolated1 test
  • Mitochondrial myopathy-lactic acidosis-deafness syndrome1 test
  • Mitochondrial phosphate carrier deficiency4 tests
  • Mitochondrial pyruvate carrier deficiency1 test
  • Mitochondrial short-chain enoyl-coa hydratase 1 deficiency4 tests
  • Mitochondrial trifunctional protein deficiency11 tests
  • Mitral valve prolapse 21 test
  • Mixed lineage leukemia5 tests
  • Miyoshi muscular dystrophy 19 tests
  • Miyoshi muscular dystrophy 36 tests
  • Molybdenum cofactor deficiency, complementation group A1 test
  • Molybdenum cofactor deficiency, complementation group B2 tests
  • Molybdenum cofactor deficiency, complementation group C2 tests
  • Monocarboxylate transporter 1 deficiency3 tests
  • Mononeuropathy of the median nerve, mild5 tests
  • MORM syndrome8 tests
  • Mosaic variegated aneuploidy syndrome 12 tests
  • Mosaic variegated aneuploidy syndrome 21 test
  • Mowat-Wilson syndrome7 tests
  • Moyamoya disease3 tests
  • Moyamoya disease 23 tests
  • Moyamoya disease 57 tests
  • Moyamoya disease 6 with achalasia1 test
  • MPDU1-CDG2 tests
  • MPI-CDG5 tests
  • Mucolipidosis type II5 tests
  • Mucolipidosis type III gamma5 tests
  • Mucolipidosis type IV6 tests
  • Mucopolysaccharidosis type 64 tests
  • Mucopolysaccharidosis type 78 tests
  • Mucopolysaccharidosis, MPS-I-H/S7 tests
  • Mucopolysaccharidosis, MPS-I-S7 tests
  • Mucopolysaccharidosis, MPS-II6 tests
  • Mucopolysaccharidosis, MPS-III-A5 tests
  • Mucopolysaccharidosis, MPS-III-B5 tests
  • Mucopolysaccharidosis, MPS-III-C5 tests
  • Mucopolysaccharidosis, MPS-III-D4 tests
  • Mucopolysaccharidosis, MPS-IV-A5 tests
  • Mucopolysaccharidosis, MPS-IV-B8 tests
  • Mucosa-associated lymphoma3 tests
  • Muenke syndrome11 tests
  • Muir-Torré syndrome16 tests
  • Mulibrey nanism syndrome4 tests
  • Mullerian aplasia and hyperandrogenism4 tests
  • Multicentric carpo-tarsal osteolysis with or without nephropathy2 tests
  • Multicentric osteolysis, nodulosis and arthropathy2 tests
  • Multiple acyl-CoA dehydrogenase deficiency13 tests
  • Multiple congenital anomalies8 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 14 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 26 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 33 tests
  • Multiple congenital exostosis5 tests
  • Multiple endocrine neoplasia, type 19 tests
  • Multiple endocrine neoplasia, type 2a10 tests
  • Multiple endocrine neoplasia, type 2b10 tests
  • Multiple endocrine neoplasia, type 43 tests
  • Multiple epiphyseal dysplasia 14 tests
  • Multiple epiphyseal dysplasia 64 tests
  • Multiple epiphyseal dysplasia type 47 tests
  • Multiple epiphyseal dysplasia type 51 test
  • Multiple exostoses type 25 tests
  • Multiple fibrofolliculomas5 tests
  • Multiple gastrointestinal atresias4 tests
  • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects3 tests
  • Multiple mitochondrial dysfunctions syndrome 12 tests
  • Multiple mitochondrial dysfunctions syndrome 24 tests
  • Multiple mitochondrial dysfunctions syndrome 35 tests
  • Multiple mitochondrial dysfunctions syndrome 44 tests
  • Multiple myeloma9 tests
  • Multiple sclerosis, susceptibility to, 55 tests
  • Multiple self-healing squamous epithelioma8 tests
  • Multiple sulfatase deficiency6 tests
  • Multiple synostoses syndrome 24 tests
  • Multiple synostoses syndrome 32 tests
  • Multiple synostoses syndrome 41 test
  • Multiple system atrophy8 tests
  • Mungan syndrome4 tests
  • Muscle AMP deaminase deficiency2 tests
  • Muscle eye brain disease5 tests
  • Muscular dystrophy, congenital, davignon-chauveau type2 tests
  • Muscular dystrophy, congenital, due to integrin alpha-7 deficiency5 tests
  • Muscular dystrophy, congenital, with cataracts and intellectual disability3 tests
  • Muscular dystrophy, limb-girdle, type 2z1 test
  • Muscular dystrophy-dystroglycanopathy1 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 117 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 101 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 115 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 122 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 133 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 145 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 83 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 96 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 145 tests
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 122 tests
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 145 tests
  • Mutilating keratoderma6 tests
  • Myasthenia, limb-girdle, familial9 tests
  • Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency10 tests
  • Myasthenic syndrome, congenital, 144 tests
  • Myasthenic syndrome, congenital, 152 tests
  • Myasthenic syndrome, congenital, 172 tests
  • Myasthenic syndrome, congenital, 181 test
  • Myasthenic syndrome, congenital, 192 tests
  • Myasthenic syndrome, congenital, 20, presynaptic6 tests
  • Myasthenic syndrome, congenital, 21, presynaptic3 tests
  • Myasthenic syndrome, congenital, 223 tests
  • Myasthenic syndrome, congenital, 24, presynaptic1 test
  • Myasthenic syndrome, congenital, 2a, slow-channel6 tests
  • Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency6 tests
  • Myasthenic syndrome, congenital, 3a, slow-channel9 tests
  • Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency9 tests
  • Myasthenic syndrome, congenital, 4a, slow-channel7 tests
  • Myasthenic syndrome, congenital, 4b, fast-channel7 tests
  • Myasthenic syndrome, congenital, 7, presynaptic5 tests
  • Myasthenic syndrome, congenital, 87 tests
  • Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency10 tests
  • Myasthenic syndrome, slow-channel congenital8 tests
  • Mycobacterial and viral infections, susceptibility to, autosomal recessive3 tests
  • Mycobacterium tuberculosis, susceptibility to5 tests
  • Myd88 deficiency2 tests
  • Myelodysplastic syndrome16 tests
  • Myelofibrosis13 tests
  • Myeloid leukemia4 tests
  • Myeloperoxidase deficiency1 test
  • Myeloproliferative disorder, chronic, with eosinophilia4 tests
  • MYH-associated polyposis8 tests
  • MYH7-related late-onset scapuloperoneal muscular dystrophy8 tests
  • Myhre syndrome11 tests
  • Myocardial infarction 112 tests
  • Myoclonic dystonia 116 tests
  • Myoclonic epilepsy, familial infantile4 tests
  • Myoclonic-atonic epilepsy4 tests
  • Myoclonus, familial 11 test
  • Myoclonus, intractable, neonatal5 tests
  • Myofibrillar myopathy 111 tests
  • Myofibrillar myopathy 35 tests
  • Myofibrillar myopathy, BAG3-related8 tests
  • Myofibrillar myopathy, filamin C-related7 tests
  • Myofibrillar myopathy, ZASP-related10 tests
  • Myoglobinuria, acute recurrent, autosomal recessive3 tests
  • Myopathy1 test
  • Myopathy with extrapyramidal signs4 tests
  • Myopathy with lactic acidosis, hereditary4 tests
  • Myopathy with postural muscle atrophy, X-linked8 tests
  • Myopathy, areflexia, respiratory distress, and dysphagia, early-onset1 test
  • Myopathy, centronuclear, 110 tests
  • Myopathy, centronuclear, 24 tests
  • Myopathy, centronuclear, 31 test
  • Myopathy, centronuclear, 43 tests
  • Myopathy, centronuclear, 52 tests
  • Myopathy, congenital, compton-north4 tests
  • Myopathy, congenital, with neuropathy and deafness1 test
  • Myopathy, distal, 18 tests
  • Myopathy, distal, 47 tests
  • Myopathy, distal, with anterior tibial onset9 tests
  • Myopathy, early-onset, with fatal cardiomyopathy12 tests
  • Myopathy, isolated mitochondrial, autosomal dominant8 tests
  • Myopathy, lactic acidosis, and sideroblastic anemia 15 tests
  • Myopathy, lactic acidosis, and sideroblastic anemia 24 tests
  • Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay4 tests
  • Myopathy, myofibrillar, 71 test
  • Myopathy, myofibrillar, 81 test
  • Myopathy, myofibrillar, 9, with early respiratory failure12 tests
  • Myopathy, myosin storage, autosomal recessive8 tests
  • Myopathy, proximal, and ophthalmoplegia2 tests
  • Myopathy, reducing body, X-linked, childhood-onset8 tests
  • Myopathy, reducing body, X-linked, early-onset, severe8 tests
  • Myopathy, scapulohumeroperoneal9 tests
  • Myopathy, tubular aggregate, 15 tests
  • Myopathy, tubular aggregate, 23 tests
  • Myopathy, vacuolar, with casq1 aggregates1 test
  • Myopia1 test
  • Myopia 67 tests
  • Myopia, high, with cataract and vitreoretinal degeneration3 tests
  • Myosclerosis, autosomal recessive7 tests
  • Myosin storage myopathy8 tests
  • Myostatin-related muscle hypertrophy2 tests
  • Myotonic dystrophy type 21 test
  • N-terminal acetyltransferase deficiency3 tests
  • Naegeli-Franceschetti-Jadassohn syndrome4 tests
  • Nager syndrome6 tests
  • Nail disorder, nonsyndromic congenital, 85 tests
  • Nail patella-like renal disease1 test
  • Nail-patella syndrome9 tests
  • Namaqualand hip dysplasia18 tests
  • Nance-Horan syndrome5 tests
  • Nanophthalmos 25 tests
  • Narcolepsy 11 test
  • Narcolepsy 71 test
  • NARP syndrome2 tests
  • Nasopharyngeal carcinoma10 tests
  • Natural killer cell and glucocorticoid deficiency with DNA repair defect2 tests
  • Navajo neurohepatopathy9 tests
  • Naxos disease6 tests
  • NDE1-related microhydranencephaly1 test
  • Nemaline myopathy 13 tests
  • Nemaline myopathy 102 tests
  • Nemaline myopathy 11, autosomal recessive5 tests
  • Nemaline myopathy 26 tests
  • Nemaline myopathy 39 tests
  • Nemaline myopathy 46 tests
  • Nemaline myopathy 53 tests
  • Nemaline myopathy 63 tests
  • Nemaline myopathy 73 tests
  • Nemaline myopathy 83 tests
  • Nemaline myopathy 93 tests
  • Neonatal ichthyosis-sclerosing cholangitis syndrome2 tests
  • Neonatal intrahepatic cholestasis caused by citrin deficiency3 tests
  • Neonatal severe hyperparathyroidism7 tests
  • Neoplasm of ovary24 tests
  • Neoplasm of stomach35 tests
  • Nephroblastoma1 test
  • Nephrogenic diabetes insipidus, autosomal2 tests
  • Nephrogenic diabetes insipidus, X-linked2 tests
  • Nephrogenic syndrome of inappropriate antidiuresis2 tests
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 12 tests
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 21 test
  • Nephronophthisis 113 tests
  • Nephronophthisis 1111 tests
  • Nephronophthisis 1210 tests
  • Nephronophthisis 148 tests
  • Nephronophthisis 156 tests
  • Nephronophthisis 164 tests
  • Nephronophthisis 181 test
  • Nephronophthisis 192 tests
  • Nephronophthisis 201 test
  • Nephronophthisis 311 tests
  • Nephronophthisis 412 tests
  • Nephronophthisis 74 tests
  • Nephronophthisis 95 tests
  • Nephronophthisis-like nephropathy 15 tests
  • Nephropathic cystinosis5 tests
  • Nephropathy with pretibial epidermolysis bullosa and deafness1 test
  • Nephrotic syndrome1 test
  • Nephrotic syndrome type 142 tests
  • Nephrotic syndrome, type 102 tests
  • Nephrotic syndrome, type 113 tests
  • Nephrotic syndrome, type 122 tests
  • Nephrotic syndrome, type 131 test
  • Nephrotic syndrome, type 35 tests
  • Nephrotic syndrome, type 414 tests
  • Nephrotic syndrome, type 5, with or without ocular abnormalities7 tests
  • Nephrotic syndrome, type 63 tests
  • Nephrotic syndrome, type 75 tests
  • Nephrotic syndrome, type 83 tests
  • Nephrotic syndrome, type 92 tests
  • Nestor-Guillermo progeria syndrome1 test
  • Netherton syndrome3 tests
  • Neu-Laxova syndrome 12 tests
  • Neu-laxova syndrome 23 tests
  • Neural tube defect4 tests
  • Neural tube defects, folate-sensitive11 tests
  • Neuroblastoma5 tests
  • Neuroblastoma 11 test
  • Neuroblastoma 26 tests
  • Neuroblastoma 34 tests
  • Neurocutaneous melanocytosis8 tests
  • Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset3 tests
  • Neurodegeneration with brain iron accumulation 2b5 tests
  • Neurodegeneration with brain iron accumulation 42 tests
  • Neurodegeneration with brain iron accumulation 54 tests
  • Neurodegeneration with brain iron accumulation 64 tests
  • Neurodegeneration, childhood-onset, with cerebellar atrophy2 tests
  • Neurodevelopmental disorder and language delay with or without structural brain abnormalities1 test
  • Neurodevelopmental disorder with absent language and variable seizures1 test
  • Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination1 test
  • Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features1 test
  • Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart1 test
  • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant3 tests
  • Neuroferritinopathy7 tests
  • Neurofibromatosis, familial spinal9 tests
  • Neurofibromatosis, type 19 tests
  • Neurofibromatosis, type 27 tests
  • Neurofibromatosis-Noonan syndrome9 tests
  • Neurogenic scapuloperoneal syndrome, Kaeser type11 tests
  • Neurohypophyseal diabetes insipidus2 tests
  • Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset3 tests
  • Neuronal ceroid lipofuscinosis 15 tests
  • Neuronal ceroid lipofuscinosis 104 tests
  • Neuronal ceroid lipofuscinosis 37 tests
  • Neuronal ceroid lipofuscinosis 4B2 tests
  • Neuronal ceroid lipofuscinosis 55 tests
  • Neuronal ceroid lipofuscinosis 67 tests
  • Neuronal ceroid lipofuscinosis 73 tests
  • Neuronal ceroid lipofuscinosis 87 tests
  • Neuronopathy, distal hereditary motor, type 92 tests
  • Neuronopathy, distal hereditary motor, type viia6 tests
  • Neuropathy, hereditary motor and sensory, Russe type8 tests
  • Neuropathy, hereditary motor and sensory, type 6B7 tests
  • Neuropathy, hereditary sensory and autonomic, type VI3 tests
  • Neuropathy, hereditary sensory and autonomic, type VII3 tests
  • Neuropathy, hereditary sensory and autonomic, type VIII2 tests
  • Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive3 tests
  • Neutral 1 amino acid transport defect2 tests
  • Neutral lipid storage myopathy3 tests
  • Neutropenia, nonimmune chronic idiopathic, of adults5 tests
  • Neutropenia, severe congenital 1, autosomal dominant5 tests
  • Neutropenia, severe congenital, 7, autosomal recessive6 tests
  • Neutrophil immunodeficiency syndrome2 tests
  • Nevus comedonicus2 tests
  • Newfoundland rod-cone dystrophy5 tests
  • Nicolaides-Baraitser syndrome1 test
  • Niemann-Pick disease type C110 tests
  • Niemann-Pick disease, type A9 tests
  • Niemann-Pick disease, type B9 tests
  • Niemann-Pick disease, type C27 tests
  • Night blindness, congenital stationary, type 1g4 tests
  • Night blindness, congenital stationary, type 1h1 test
  • Nijmegen breakage syndrome-like disorder2 tests
  • Nocturnal frontal lobe epilepsy2 tests
  • Non-acquired combined pituitary hormone deficiency with spine abnormalities5 tests
  • Non-Hodgkin lymphoma16 tests
  • Non-ketotic hyperglycinemia8 tests
  • Nonarteritic anterior ischemic optic neuropathy, susceptibility to7 tests
  • Nonepidermolytic palmoplantar hyperkeratosis4 tests
  • Nonmedullary thyroid carcinoma 16 tests
  • Nonpersistence of intestinal lactase1 test
  • Noonan syndrome 115 tests
  • Noonan syndrome 104 tests
  • Noonan syndrome 37 tests
  • Noonan syndrome 46 tests
  • Noonan syndrome 58 tests
  • Noonan syndrome 68 tests
  • Noonan syndrome 78 tests
  • Noonan syndrome 82 tests
  • Noonan syndrome 92 tests
  • Noonan syndrome-like disorder with loose anagen hair1 test
  • Noonan syndrome-like disorder with loose anagen hair 15 tests
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia5 tests
  • Normal pressure hydrocephalus3 tests
  • Norman-Roberts syndrome3 tests
  • Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 14 tests
  • Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 28 tests
  • Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 32 tests
  • Nystagmus 6, congenital, X-linked6 tests
  • Obesity11 tests
  • Obsessive-compulsive disorder1 test
  • Occult macular dystrophy6 tests
  • Ocular albinism, type I6 tests
  • Ocular albinism, type II4 tests
  • Ocular cystinosis5 tests
  • Oculoauricular syndrome5 tests
  • Oculocutaneous albinism type 1B5 tests
  • Oculocutaneous albinism type 33 tests
  • Oculocutaneous albinism type 44 tests
  • Oculodentodigital dysplasia5 tests
  • Oculodentodigital dysplasia, autosomal recessive5 tests
  • Oculofaciocardiodental syndrome9 tests
  • Oculomaxillofacial dysostosis3 tests
  • Oculootoradial syndrome7 tests
  • Oculopharyngeal muscular dystrophy5 tests
  • Oculotrichoanal syndrome6 tests
  • Odonto-onycho-dermal dysplasia3 tests
  • Oguchi disease5 tests
  • Oguchi disease 24 tests
  • Ohdo syndrome, X-linked7 tests
  • Oligodontia-colorectal cancer syndrome2 tests
  • Olmsted syndrome 12 tests
  • Opitz GBBB syndrome, type I4 tests
  • Opitz GBBB syndrome, type II3 tests
  • Opsismodysplasia1 test
  • Optic atrophy 10 with or without ataxia, mental retardation, and seizures3 tests
  • Optic atrophy 111 test
  • Optic atrophy 314 tests
  • Optic atrophy 54 tests
  • Optic atrophy 73 tests
  • Optic atrophy 96 tests
  • Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy10 tests
  • Optic nerve hypoplasia, bilateral9 tests
  • Ornithine aminotransferase deficiency3 tests
  • Ornithine carbamoyltransferase deficiency3 tests
  • Orofacial cleft 101 test
  • Orofacial cleft 119 tests
  • Orofacial cleft 151 test
  • Orofacial cleft 53 tests
  • Orofacial cleft 6, susceptibility to7 tests
  • Orofacial-digital syndrome IV6 tests
  • Orofaciodigital syndrome I10 tests
  • Orofaciodigital syndrome type 68 tests
  • Orofaciodigital syndrome V2 tests
  • Orofaciodigital syndrome xiv3 tests
  • Orofaciodigital syndrome XV1 test
  • Oroticaciduria2 tests
  • Orthostatic hypotension 11 test
  • Orthostatic intolerance1 test
  • Osteoarthritis of distal interphalangeal joint1 test
  • Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type2 tests
  • Osteocraniostenosis6 tests
  • Osteodysplastic primordial dwarfism, type 14 tests
  • Osteofibrous dysplasia6 tests
  • Osteogenesis imperfecta1 test
  • Osteogenesis imperfecta type 102 tests
  • Osteogenesis imperfecta type 122 tests
  • Osteogenesis imperfecta type 52 tests
  • Osteogenesis imperfecta type 73 tests
  • Osteogenesis imperfecta type 83 tests
  • Osteogenesis imperfecta type 92 tests
  • Osteogenesis imperfecta type I5 tests
  • Osteogenesis imperfecta type III9 tests
  • Osteogenesis imperfecta with normal sclerae, dominant form9 tests
  • Osteogenesis imperfecta, recessive perinatal lethal9 tests
  • Osteogenesis imperfecta, type VI1 test
  • Osteogenesis imperfecta, type XI5 tests
  • Osteogenesis imperfecta, type xiii2 tests
  • Osteogenesis imperfecta, type xiv2 tests
  • Osteogenesis imperfecta, type xvii1 test
  • Osteoglophonic dysplasia13 tests
  • Osteomyelitis, sterile multifocal, with periostitis and pustulosis2 tests
  • Osteopathia striata with cranial sclerosis3 tests
  • Osteopetrosis with renal tubular acidosis4 tests
  • Osteopetrosis, autosomal recessive 53 tests
  • Osteopetrosis, autosomal recessive 83 tests
  • Osteoporosis with pseudoglioma9 tests
  • Oto-palato-digital syndrome, type I9 tests
  • Oto-palato-digital syndrome, type II9 tests
  • Otofaciocervical syndrome 16 tests
  • Otofaciocervical syndrome 22 tests
  • Otospondylomegaepiphyseal dysplasia, autosomal dominant6 tests
  • Otospondylomegaepiphyseal dysplasia, autosomal recessive6 tests
  • Ovalocytosis, southeast Asian4 tests
  • Ovarian dysgenesis1 test
  • Ovarian dysgenesis 13 tests
  • Ovarian dysgenesis 21 test
  • Ovarian dysgenesis 31 test
  • Ovarian dysgenesis 41 test
  • Ovarian hyperstimulation syndrome3 tests
  • Pachyonychia congenita 12 tests
  • Pachyonychia congenita 23 tests
  • Pachyonychia congenita 33 tests
  • Pachyonychia congenita 42 tests
  • Paget disease of bone 2, early-onset5 tests
  • Paget disease of bone 33 tests
  • Pallister-Hall syndrome10 tests
  • Pallister-Killian syndrome1 test
  • Palmoplantar carcinoma, multiple self-healing2 tests
  • Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal3 tests
  • Palmoplantar keratoderma and woolly hair3 tests
  • Palmoplantar keratoderma i, striate, focal, or diffuse2 tests
  • Palmoplantar keratoderma, Bothnian type1 test
  • Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked5 tests
  • Palmoplantar keratoderma, nagashima type1 test
  • Palmoplantar keratoderma, nonepidermolytic, focal 12 tests
  • Palmoplantar keratoderma, nonepidermolytic, focal 22 tests
  • Palmoplantar keratoderma, nonepidermolytic, focal or diffuse2 tests
  • Palmoplantar keratoderma, punctate type 1A2 tests
  • Palmoplantar keratoderma-deafness syndrome6 tests
  • Palmoplantar keratoderma-esophageal carcinoma syndrome3 tests
  • Pancreatic agenesis 17 tests
  • Pancreatic agenesis 22 tests
  • Pancreatic agenesis and congenital heart disease3 tests
  • Pancreatic cancer 11 test
  • Pancreatic cancer 211 tests
  • Pancreatic cancer 38 tests
  • Pancreatic cancer 410 tests
  • Pancreatic lipase deficiency1 test
  • Panhypopituitarism, X-linked7 tests
  • Papillon-Lefèvre syndrome4 tests
  • Paragangliomas 113 tests
  • Paragangliomas 24 tests
  • Paragangliomas 36 tests
  • Paragangliomas 411 tests
  • Paragangliomas 512 tests
  • Paramyotonia congenita of von Eulenburg11 tests
  • Parastremmatic dwarfism9 tests
  • Parathyroid carcinoma6 tests
  • Parietal foramina 13 tests
  • Parietal foramina 23 tests
  • Parietal foramina with cleidocranial dysplasia3 tests
  • Parkinson disease1 test
  • Parkinson disease 16 tests
  • Parkinson disease 137 tests
  • Parkinson disease 145 tests
  • Parkinson disease 152 tests
  • Parkinson disease 171 test
  • Parkinson disease 19a, juvenile-onset1 test
  • Parkinson disease 22 tests
  • Parkinson disease 20, early-onset3 tests
  • Parkinson disease 46 tests
  • Parkinson disease 52 tests
  • Parkinson disease 6, autosomal recessive early-onset3 tests
  • Parkinson disease 73 tests
  • Parkinson disease 8, autosomal dominant3 tests
  • Parkinson disease, late-onset18 tests
  • Parkinson-dementia syndrome2 tests
  • Parkinsonism with spasticity, X-linked3 tests
  • Parkinsonism-dystonia, infantile, 13 tests
  • Paroxysmal extreme pain disorder5 tests
  • Paroxysmal familial ventricular fibrillation 111 tests
  • Paroxysmal nocturnal hemoglobinuria 16 tests
  • Paroxysmal nocturnal hemoglobinuria 23 tests
  • Paroxysmal nonkinesigenic dyskinesia 15 tests
  • Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy3 tests
  • Partial albinism10 tests
  • Partial androgen insensitivity syndrome8 tests
  • Partial hypoxanthine-guanine phosphoribosyltransferase deficiency3 tests
  • Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome2 tests
  • Partington syndrome7 tests
  • Patent ductus arteriosus 22 tests
  • Paternal uniparental disomy of chromosome 141 test
  • Paternal uniparental disomy of chromosome 71 test
  • Peeling skin syndrome 13 tests
  • Peeling skin syndrome 22 tests
  • Peeling skin syndrome 41 test
  • Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads1 test
  • PEHO syndrome1 test
  • Pelger-Huët anomaly4 tests
  • Pelviscapular dysplasia1 test
  • Pena-Shokeir syndrome type I10 tests
  • Pendred syndrome7 tests
  • PERCHING syndrome4 tests
  • Periodic fever syndrome1 test
  • Periodontitis, aggressive, 14 tests
  • Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease9 tests
  • Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development2 tests
  • Peripheral neuropathy, myopathy, hoarseness, and hearing loss5 tests
  • Periventricular nodular heterotopia 19 tests
  • Periventricular nodular heterotopia 71 test
  • Perlman syndrome3 tests
  • Permanent neonatal diabetes mellitus25 tests
  • Peroxisomal acyl-CoA oxidase deficiency4 tests
  • Peroxisomal fatty acyl-coa reductase 1 disorder1 test
  • Peroxisome biogenesis disorder 10A9 tests
  • Peroxisome biogenesis disorder 10b9 tests
  • Peroxisome biogenesis disorder 11A9 tests
  • Peroxisome biogenesis disorder 11B9 tests
  • Peroxisome biogenesis disorder 12A8 tests
  • Peroxisome biogenesis disorder 13A8 tests
  • Peroxisome biogenesis disorder 14B7 tests
  • Peroxisome biogenesis disorder 1A (Zellweger)14 tests
  • Peroxisome biogenesis disorder 1B14 tests
  • Peroxisome biogenesis disorder 2A (Zellweger)9 tests
  • Peroxisome biogenesis disorder 2B9 tests
  • Peroxisome biogenesis disorder 3A8 tests
  • Peroxisome biogenesis disorder 4a (zellweger)9 tests
  • Peroxisome biogenesis disorder 4B9 tests
  • Peroxisome biogenesis disorder 5a (zellweger)11 tests
  • Peroxisome biogenesis disorder 5B11 tests
  • Peroxisome biogenesis disorder 6A11 tests
  • Peroxisome biogenesis disorder 6B11 tests
  • Peroxisome biogenesis disorder 7A9 tests
  • Peroxisome biogenesis disorder 7B9 tests
  • Peroxisome biogenesis disorder 8A9 tests
  • Peroxisome biogenesis disorder 8B9 tests
  • Peroxisome biogenesis disorder 9B15 tests
  • Peroxisome biogenesis disorder type 3B8 tests
  • Perrault syndrome 17 tests
  • Perrault syndrome 21 test
  • Perrault syndrome 33 tests
  • Perrault syndrome 54 tests
  • Perrault syndrome 61 test
  • Perry syndrome6 tests
  • Persistent hyperplastic primary vitreous, autosomal recessive3 tests
  • Persistent Mullerian duct syndrome4 tests
  • Peters plus syndrome7 tests
  • Pettigrew syndrome4 tests
  • Peutz-Jeghers syndrome7 tests
  • Pfeiffer syndrome21 tests
  • Phenylketonuria4 tests
  • Pheochromocytoma34 tests
  • Phosphate transport defect7 tests
  • Phosphoenolpyruvate carboxykinase deficiency, cytosolic1 test
  • Phosphoenolpyruvate carboxykinase deficiency, mitochondrial1 test
  • Phosphoglycerate dehydrogenase deficiency2 tests
  • Phosphoglycerate kinase 1 deficiency4 tests
  • Phosphoribosylpyrophosphate synthetase superactivity7 tests
  • Phosphoserine aminotransferase deficiency3 tests
  • Phytanic acid storage disease16 tests
  • Pick disease10 tests
  • Pierpont syndrome1 test
  • Pierson syndrome7 tests
  • Pigmentary disorder, reticulate, with systemic manifestations, X-linked1 test
  • Pigmentary pallidal degeneration5 tests
  • Pigmentary retinal dystrophy18 tests
  • Pigmented nodular adrenocortical disease, primary, 16 tests
  • Pigmented nodular adrenocortical disease, primary, 21 test
  • Pigmented nodular adrenocortical disease, primary, 32 tests
  • Pigmented paravenous chorioretinal atrophy6 tests
  • Pili torti-deafness syndrome6 tests
  • Pilomatrixoma4 tests
  • Pineal hyperplasia AND diabetes mellitus syndrome5 tests
  • Pitt-Hopkins syndrome4 tests
  • Pitt-Hopkins-like syndrome 14 tests
  • Pitt-Hopkins-like syndrome 24 tests
  • Pituitary adenoma, growth hormone-secreting, 21 test
  • Pituitary dependent hypercortisolism4 tests
  • Pituitary hormone deficiency, combined 26 tests
  • Pituitary hormone deficiency, combined 69 tests
  • Pituitary hormone deficiency, combined, 14 tests
  • Pityriasis rubra pilaris3 tests
  • Plasminogen deficiency, type I3 tests
  • Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease4 tests
  • Platelet glycoprotein IV deficiency2 tests
  • Platelet-type bleeding disorder 113 tests
  • Platelet-type bleeding disorder 13, susceptibility to3 tests
  • Platelet-type bleeding disorder 153 tests
  • Platelet-type bleeding disorder 166 tests
  • Platelet-type bleeding disorder 173 tests
  • Platelet-type bleeding disorder 182 tests
  • Platelet-type bleeding disorder 192 tests
  • Platelet-type bleeding disorder 203 tests
  • Platelet-type bleeding disorder 83 tests
  • Platelet-type bleeding disorder 91 test
  • Platyspondylic dysplasia, Torrance type18 tests
  • Pneumothorax, primary spontaneous5 tests
  • Poikiloderma with neutropenia3 tests
  • Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis1 test
  • Polyarteritis nodosa, childhoood-onset1 test
  • Polycystic kidney disease 29 tests
  • Polycystic kidney disease 36 tests
  • Polycystic kidney disease 54 tests
  • Polycystic kidney disease 6 with or without polycystic liver disease3 tests
  • Polycystic kidney disease, adult type9 tests
  • Polycystic kidney dysplasia1 test
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 13 tests
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 22 tests
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly1 test
  • Polycystic liver disease 15 tests
  • Polycystic liver disease 25 tests
  • Polycystic ovaries2 tests
  • Polycythemia vera6 tests
  • Polydactyly, postaxial, type A81 test
  • Polydactyly, postaxial, type A91 test
  • Polydactyly, preaxial II1 test
  • Polyglandular autoimmune syndrome, type 17 tests
  • Polyglucosan body myopathy 1 with or without immunodeficiency2 tests
  • Polymicrogyria with optic nerve hypoplasia3 tests
  • Polymicrogyria, asymmetric2 tests
  • Polymicrogyria, bilateral frontoparietal2 tests
  • Polymicrogyria, bilateral temporooccipital7 tests
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract6 tests
  • Pontocerebellar hypoplasia type 1A5 tests
  • Pontocerebellar hypoplasia type 2A3 tests
  • Pontocerebellar hypoplasia type 2B3 tests
  • Pontocerebellar hypoplasia type 2C2 tests
  • Pontocerebellar hypoplasia type 31 test
  • Pontocerebellar hypoplasia type 43 tests
  • Pontocerebellar hypoplasia type 62 tests
  • Pontocerebellar hypoplasia type 82 tests
  • Pontocerebellar hypoplasia, type 121 test
  • Pontocerebellar hypoplasia, type 1b3 tests
  • Pontocerebellar hypoplasia, type 1c2 tests
  • Pontocerebellar hypoplasia, type 2e1 test
  • Pontocerebellar hypoplasia, type 2f1 test
  • Pontocerebellar hypoplasia, type 71 test
  • Pontocerebellar hypoplasia, type 92 tests
  • Popliteal pterygium syndrome7 tests
  • Porencephaly 24 tests
  • Poretti-Boltshauser syndrome1 test
  • Porokeratosis 3, disseminated superficial actinic type7 tests
  • Porokeratosis of Mibelli1 test
  • Porphobilinogen synthase deficiency3 tests
  • Portal hypertension, noncirrhotic7 tests
  • Postaxial polydactyly type A110 tests
  • Posterior column ataxia-retinitis pigmentosa syndrome6 tests
  • Postmenopausal osteoporosis17 tests
  • Potassium-aggravated myotonia11 tests
  • Potocki-Lupski syndrome5 tests
  • Prader-Willi syndrome9 tests
  • Preaxial hand polydactyly1 test
  • Preaxial polydactyly 410 tests
  • Precocious puberty, central, 12 tests
  • Precocious puberty, central, 21 test
  • Preeclampsia/eclampsia 12 tests
  • Pregnancy loss, recurrent, susceptibility to, 15 tests
  • Pregnancy loss, recurrent, susceptibility to, 26 tests
  • Prekallikrein deficiency2 tests
  • Premature aging syndrome, Penttinen type3 tests
  • Premature chromatid separation trait2 tests
  • Premature ovarian failure 19 tests
  • Premature ovarian failure 1112 tests
  • Premature ovarian failure 122 tests
  • Premature ovarian failure 152 tests
  • Premature ovarian failure 33 tests
  • Premature ovarian failure 76 tests
  • Preterm premature rupture of membranes2 tests
  • Pretibial blistering5 tests
  • Primary aldosteronism, seizures, and neurologic abnormalities2 tests
  • Primary autosomal recessive microcephaly 11 test
  • Primary autosomal recessive microcephaly 101 test
  • Primary autosomal recessive microcephaly 23 tests
  • Primary autosomal recessive microcephaly 31 test
  • Primary autosomal recessive microcephaly 42 tests
  • Primary autosomal recessive microcephaly 52 tests
  • Primary autosomal recessive microcephaly 63 tests
  • Primary autosomal recessive microcephaly 72 tests
  • Primary autosomal recessive microcephaly 81 test
  • Primary autosomal recessive microcephaly 93 tests
  • Primary ciliary dyskinesia 232 tests
  • Primary ciliary dyskinesia 241 test
  • Primary ciliary dyskinesia 251 test
  • Primary dilated cardiomyopathy1 test
  • Primary erythromelalgia5 tests
  • Primary familial hypertrophic cardiomyopathy2 tests
  • Primary familial polycythemia due to EPO receptor mutation7 tests
  • Primary hyperoxaluria, type I8 tests
  • Primary hyperoxaluria, type II5 tests
  • Primary hyperoxaluria, type III4 tests
  • Primary hypertrophic osteoarthropathy, autosomal recessive 21 test
  • Primary hypomagnesemia2 tests
  • Primary localized cutaneous amyloidosis 11 test
  • Primary open angle glaucoma2 tests
  • Primary pulmonary hypertension 13 tests
  • Primary pulmonary hypertension 22 tests
  • Primary pulmonary hypertension 32 tests
  • Primary pulmonary hypertension 42 tests
  • Progressive bulbar palsy of childhood8 tests
  • Progressive external ophthalmoplegia1 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 65 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 118 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 22 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 35 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 47 tests
  • Progressive familial heart block type IB3 tests
  • Progressive familial heart block, type 1A11 tests
  • Progressive familial intrahepatic cholestasis 24 tests
  • Progressive familial intrahepatic cholestasis 34 tests
  • Progressive familial intrahepatic cholestasis 44 tests
  • Progressive myoclonus epilepsy with ataxia3 tests
  • Progressive myositis ossificans2 tests
  • Progressive osseous heteroplasia6 tests
  • Progressive pseudorheumatoid dysplasia1 test
  • Progressive sclerosing poliodystrophy18 tests
  • Progressive supranuclear ophthalmoplegia2 tests
  • Prolidase deficiency1 test
  • Proline dehydrogenase deficiency3 tests
  • Proopiomelanocortin deficiency2 tests
  • Properdin deficiency, X-linked2 tests
  • Propionic acidemia5 tests
  • Proprotein convertase 1/3 deficiency2 tests
  • Prostate cancer, hereditary, 11 test
  • Prostate cancer, hereditary, 91 test
  • Protan defect1 test
  • Proteasome-associated autoinflammatory syndrome 12 tests
  • Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis5 tests
  • Proteus syndrome3 tests
  • Prothrombin deficiency, congenital6 tests
  • Protoporphyria, erythropoietic, 13 tests
  • Protoporphyria, erythropoietic, X-linked5 tests
  • Prune belly syndrome3 tests
  • Pseudo von Willebrand disease7 tests
  • Pseudo-Hurler polydystrophy5 tests
  • Pseudo-TORCH syndrome 11 test
  • Pseudo-TORCH syndrome 21 test
  • Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome4 tests
  • Pseudohyperkalemia, familial, 2, due to red cell leak2 tests
  • Pseudohypoaldosteronism type 2B2 tests
  • Pseudohypoaldosteronism type 2C4 tests
  • Pseudohypoaldosteronism type 2D3 tests
  • Pseudohypoaldosteronism type 2E4 tests
  • Pseudohypoparathyroidism6 tests
  • Pseudohypoparathyroidism type 1B11 tests
  • Pseudohypoparathyroidism type 1C6 tests
  • Pseudopseudohypoparathyroidism6 tests
  • Pseudoxanthoma elasticum7 tests
  • Pseudoxanthoma elasticum, forme fruste4 tests
  • Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency2 tests
  • Psoriasis 15, pustular, susceptibility to1 test
  • Psoriasis susceptibility 133 tests
  • Psoriasis susceptibility 23 tests
  • Psoriasis susceptibility 71 test
  • PULMONARY ALVEOLAR MICROLITHIASIS1 test
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 15 tests
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 25 tests
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 35 tests
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 43 tests
  • Pulmonary surfactant metabolism dysfunction2 tests
  • Pulmonary venoocclusive disease 1, autosomal dominant3 tests
  • Purine-nucleoside phosphorylase deficiency2 tests
  • Pustular psoriasis, generalized2 tests
  • Pyknodysostosis4 tests
  • Pyle metaphyseal dysplasia1 test
  • Pyogenic arthritis-pyoderma gangrenosum-acne syndrome3 tests
  • Pyridoxal phosphate-responsive seizures3 tests
  • Pyridoxine-dependent epilepsy2 tests
  • Pyruvate carboxylase deficiency7 tests
  • Pyruvate dehydrogenase E1-alpha deficiency8 tests
  • Pyruvate dehydrogenase E1-beta deficiency4 tests
  • Pyruvate dehydrogenase E2 deficiency6 tests
  • Pyruvate dehydrogenase E3-binding protein deficiency6 tests
  • Pyruvate dehydrogenase lipoic acid synthetase deficiency5 tests
  • Pyruvate dehydrogenase phosphatase deficiency4 tests
  • Pyruvate kinase deficiency of red cells2 tests
  • Quebec platelet disorder4 tests
  • Question mark ears, isolated1 test
  • Radial aplasia-thrombocytopenia syndrome6 tests
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 13 tests
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 22 tests
  • Rahman syndrome1 test
  • Rapadilino syndrome5 tests
  • Rapp-Hodgkin ectodermal dysplasia syndrome8 tests
  • Recessive dystrophic epidermolysis bullosa5 tests
  • Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome2 tests
  • Reduced antithrombin III activity3 tests
  • Reis-Bucklers' corneal dystrophy2 tests
  • Renal carnitine transport defect7 tests
  • Renal cell carcinoma, nonpapillary25 tests
  • Renal cell carcinoma, papillary, 16 tests
  • Renal coloboma syndrome7 tests
  • Renal cysts and diabetes syndrome12 tests
  • Renal dysplasia, cystic, susceptibility to3 tests
  • Renal hypodysplasia/aplasia 13 tests
  • Renal hypodysplasia/aplasia 21 test
  • Renal hypodysplasia/aplasia 31 test
  • Renal hypomagnesemia 22 tests
  • Renal hypouricemia 23 tests
  • Renal tubular acidosis with progressive nerve deafness3 tests
  • Renal tubular acidosis, distal, autosomal recessive5 tests
  • Renal tubular acidosis, distal, with hemolytic anemia4 tests
  • Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation2 tests
  • Renal tubular dysgenesis8 tests
  • Renal-hepatic-pancreatic dysplasia 111 tests
  • Renpenning syndrome 13 tests
  • Reticular dysgenesis2 tests
  • Reticulate acropigmentation of Kitamura1 test
  • Retinal arteries, tortuosity of12 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 abnormalities4 tests
  • Retinal dystrophy with leukodystrophy1 test
  • Retinal dystrophy with or without extraocular anomalies1 test
  • Retinal dystrophy with or without macular staphyloma1 test
  • Retinal dystrophy, iris coloboma, and comedogenic acne syndrome2 tests
  • Retinal dystrophy, juvenile cataracts, and short stature syndrome1 test
  • Retinal macular dystrophy type 26 tests
  • Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations8 tests
  • Retinitis pigmentosa24 tests
  • Retinitis pigmentosa 13 tests
  • Retinitis pigmentosa 105 tests
  • Retinitis pigmentosa 113 tests
  • Retinitis pigmentosa 126 tests
  • Retinitis pigmentosa 133 tests
  • Retinitis pigmentosa 145 tests
  • Retinitis pigmentosa 157 tests
  • Retinitis pigmentosa 173 tests
  • Retinitis pigmentosa 183 tests
  • Retinitis pigmentosa 196 tests
  • Retinitis pigmentosa 24 tests
  • Retinitis pigmentosa 205 tests
  • Retinitis pigmentosa 2310 tests
  • Retinitis pigmentosa 254 tests
  • Retinitis pigmentosa 264 tests
  • Retinitis pigmentosa 273 tests
  • Retinitis pigmentosa 283 tests
  • Retinitis pigmentosa 305 tests
  • Retinitis pigmentosa 314 tests
  • Retinitis pigmentosa 333 tests
  • Retinitis pigmentosa 353 tests
  • Retinitis pigmentosa 363 tests
  • Retinitis pigmentosa 373 tests
  • Retinitis pigmentosa 384 tests
  • Retinitis pigmentosa 396 tests
  • Retinitis pigmentosa 46 tests
  • Retinitis pigmentosa 405 tests
  • Retinitis pigmentosa 416 tests
  • Retinitis pigmentosa 424 tests
  • Retinitis pigmentosa 434 tests
  • Retinitis pigmentosa 443 tests
  • Retinitis pigmentosa 453 tests
  • Retinitis pigmentosa 464 tests
  • Retinitis pigmentosa 475 tests
  • Retinitis pigmentosa 483 tests
  • Retinitis pigmentosa 493 tests
  • Retinitis pigmentosa 509 tests
  • Retinitis pigmentosa 519 tests
  • Retinitis pigmentosa 542 tests
  • Retinitis pigmentosa 559 tests
  • Retinitis pigmentosa 565 tests
  • Retinitis pigmentosa 573 tests
  • Retinitis pigmentosa 582 tests
  • Retinitis pigmentosa 593 tests
  • Retinitis pigmentosa 603 tests
  • Retinitis pigmentosa 618 tests
  • Retinitis pigmentosa 623 tests
  • Retinitis pigmentosa 663 tests
  • Retinitis pigmentosa 672 tests
  • Retinitis pigmentosa 681 test
  • Retinitis pigmentosa 691 test
  • Retinitis pigmentosa 713 tests
  • Retinitis pigmentosa 702 tests
  • Retinitis pigmentosa 714 tests
  • Retinitis pigmentosa 722 tests
  • Retinitis pigmentosa 735 tests
  • Retinitis pigmentosa 748 tests
  • Retinitis pigmentosa 752 tests
  • Retinitis pigmentosa 766 tests
  • Retinitis pigmentosa 782 tests
  • Retinitis pigmentosa 798 tests
  • Retinitis pigmentosa 82 with or without situs inversus2 tests
  • Retinitis pigmentosa 841 test
  • Retinitis pigmentosa 861 test
  • Retinitis pigmentosa 881 test
  • Retinitis pigmentosa 93 tests
  • Retinitis pigmentosa and erythrocytic microcytosis3 tests
  • Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness7 tests
  • Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome1 test
  • Retinoblastoma7 tests
  • Rett syndrome6 tests
  • Rett syndrome, congenital variant6 tests
  • Revesz syndrome4 tests
  • Reynolds syndrome4 tests
  • Rhabdoid tumor predisposition syndrome 15 tests
  • Rhabdoid tumor predisposition syndrome 25 tests
  • Rhabdomyosarcoma, embryonal, 23 tests
  • Rheumatoid arthritis4 tests
  • Rhizomelic chondrodysplasia punctata type 115 tests
  • Rhizomelic chondrodysplasia punctata type 24 tests
  • Rhizomelic chondrodysplasia punctata type 34 tests
  • Rhizomelic chondrodysplasia punctata type 59 tests
  • Richieri Costa-Pereira syndrome2 tests
  • Rickets1 test
  • Riddle syndrome1 test
  • Ring dermoid of cornea6 tests
  • Rippling muscle disease 29 tests
  • Ritscher-Schinzel syndrome 16 tests
  • Ritscher-schinzel syndrome 21 test
  • Roberts-SC phocomelia syndrome5 tests
  • Robinow syndrome, autosomal dominant 17 tests
  • Robinow syndrome, autosomal dominant 24 tests
  • Robinow syndrome, autosomal dominant 33 tests
  • Robinow syndrome, autosomal recessive5 tests
  • Robinow-Sorauf syndrome6 tests
  • Roifman syndrome4 tests
  • Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked1 test
  • Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome4 tests
  • Rothmund-Thomson syndrome type 25 tests
  • Rotor syndrome3 tests
  • Roussy-Lévy syndrome8 tests
  • Rubinstein-Taybi syndrome 18 tests
  • Rubinstein-Taybi syndrome 24 tests
  • Rubinstein-Taybi syndrome due to 16p13.3 microdeletion1 test
  • Ruijs-Aalfs syndrome1 test
  • Saethre-Chotzen syndrome17 tests
  • Saldino-Mainzer syndrome7 tests
  • Salla disease7 tests
  • Sandhoff disease4 tests
  • Sarcoidosis 21 test
  • Sarcotubular myopathy11 tests
  • Scalp-ear-nipple syndrome1 test
  • Scaphocephaly, maxillary retrusion, and mental retardation15 tests
  • Scapuloperoneal myopathy, X-linked dominant8 tests
  • Scapuloperoneal spinal muscular atrophy9 tests
  • Schimke immuno-osseous dysplasia4 tests
  • Schinzel phocomelia syndrome2 tests
  • Schinzel-Giedion syndrome3 tests
  • Schizencephaly11 tests
  • Schizophrenia9 tests
  • Schizophrenia 151 test
  • Schizophrenia 174 tests
  • Schizophrenia 43 tests
  • Schizophrenia 91 test
  • Schneckenbecken dysplasia1 test
  • Schnyder crystalline corneal dystrophy1 test
  • Schopf-Schulz-Passarge syndrome3 tests
  • Schwannomatosis 110 tests
  • Schwannomatosis 24 tests
  • Schwartz-Jampel syndrome3 tests
  • Sclerosing cholangitis, neonatal2 tests
  • Sclerosteosis 13 tests
  • Sclerosteosis 22 tests
  • SCOTT SYNDROME3 tests
  • Sea-blue histiocyte syndrome4 tests
  • Seborrheic keratosis6 tests
  • Seckel syndrome1 test
  • Seckel syndrome 15 tests
  • Seckel syndrome 101 test
  • Seckel syndrome 24 tests
  • Seckel syndrome 43 tests
  • Seckel syndrome 63 tests
  • Seckel syndrome 73 tests
  • Secondary hypothyroidism1 test
  • Sedoheptulokinase deficiency1 test
  • Seizures, benign familial infantile, 27 tests
  • Seizures, benign familial infantile, 34 tests
  • Seizures, benign familial infantile, 54 tests
  • Seizures, cortical blindness, and microcephaly syndrome3 tests
  • Selective tooth agenesis 13 tests
  • Sengers syndrome5 tests
  • Senior-Loken syndrome 113 tests
  • Senior-Loken syndrome 412 tests
  • Senior-Loken syndrome 57 tests
  • Senior-Loken syndrome 612 tests
  • Senior-Loken syndrome 91 test
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis18 tests
  • Septo-optic dysplasia sequence8 tests
  • SERKAL syndrome4 tests
  • Sessile serrated polyposis cancer syndrome2 tests
  • Severe achondroplasia with developmental delay and acanthosis nigricans11 tests
  • Severe autosomal recessive muscular dystrophy of childhood - North African type6 tests
  • Severe combined immunodeficiency due to ADA deficiency4 tests
  • Severe combined immunodeficiency due to CARMIL2 deficiency1 test
  • Severe combined immunodeficiency due to CD70 deficiency1 test
  • Severe combined immunodeficiency due to DCLRE1C deficiency5 tests
  • Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation2 tests
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive8 tests
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative3 tests
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive4 tests
  • Severe congenital neutropenia 2, autosomal dominant5 tests
  • Severe congenital neutropenia 4, autosomal recessive5 tests
  • Severe congenital neutropenia 5, autosomal recessive3 tests
  • Severe congenital neutropenia 6, autosomal recessive2 tests
  • Severe myoclonic epilepsy in infancy11 tests
  • Severe neonatal-onset encephalopathy with microcephaly6 tests
  • Severe X-linked myotubular myopathy3 tests
  • Sex-linked hereditary disorder1 test
  • Shashi-Pena syndrome1 test
  • short QT syndrome1 test
  • Short QT syndrome 19 tests
  • Short QT syndrome 214 tests
  • Short QT syndrome 311 tests
  • Short rib-polydactyly syndrome, Majewski type5 tests
  • Short stature due to growth hormone qualitative anomaly4 tests
  • Short stature due to growth hormone secretagogue receptor deficiency1 test
  • Short stature with nonspecific skeletal abnormalities1 test
  • Short stature, brachydactyly, intellectual developmental disability, and seizures1 test
  • Short stature, developmental delay, and congenital heart defects2 tests
  • Short stature, idiopathic, autosomal4 tests
  • Short stature, idiopathic, X-linked7 tests
  • Short stature, microcephaly, and endocrine dysfunction1 test
  • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis1 test
  • Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay1 test
  • Short stature-pituitary and cerebellar defects-small sella turcica syndrome5 tests
  • SHORT syndrome3 tests
  • Short-rib thoracic dysplasia 10 with or without polydactyly4 tests
  • Short-rib thoracic dysplasia 11 with or without polydactyly3 tests
  • Short-rib thoracic dysplasia 13 with or without polydactyly2 tests
  • Short-rib thoracic dysplasia 14 with polydactyly4 tests
  • Short-rib thoracic dysplasia 15 with polydactyly2 tests
  • Short-rib thoracic dysplasia 16 with or without polydactyly2 tests
  • Short-rib thoracic dysplasia 17 with or without polydactyly1 test
  • Short-rib thoracic dysplasia 3 with or without polydactyly6 tests
  • Short-rib thoracic dysplasia 7 with or without polydactyly6 tests
  • Short-rib thoracic dysplasia 8 with or without polydactyly4 tests
  • Shprintzen-Goldberg syndrome4 tests
  • Shwachman-Diamond syndrome 16 tests
  • Shwachman-Diamond syndrome 21 test
  • Sialic acid storage disease, severe infantile type7 tests
  • Sialidosis type 26 tests
  • Sialuria7 tests
  • Sick sinus syndrome 1, autosomal recessive11 tests
  • Sick sinus syndrome 2, autosomal dominant6 tests
  • Sideroblastic anemia 3, pyridoxine-refractory5 tests
  • Silver-Russell syndrome 14 tests
  • Silver-Russell syndrome 32 tests
  • Simpson-Golabi-Behmel syndrome type 110 tests
  • Simpson-Golabi-Behmel syndrome, type 210 tests
  • Singleton-Merten syndrome 15 tests
  • Singleton-Merten syndrome 21 test
  • Sinoatrial node dysfunction and deafness2 tests
  • Sitosterolemia 15 tests
  • Sitosterolemia 22 tests
  • Sjögren-Larsson syndrome6 tests
  • Skeletal dysplasia1 test
  • Skin creases, congenital symmetric circumferential, 21 test
  • Skin fragility-woolly hair-palmoplantar keratoderma syndrome5 tests
  • Skin/hair/eye pigmentation, variation in, 111 test
  • Skin/hair/eye pigmentation, variation in, 43 tests
  • SLC35A2-CDG3 tests
  • Slowed nerve conduction velocity, autosomal dominant3 tests
  • Small cell lung carcinoma6 tests
  • Smith-Lemli-Opitz syndrome11 tests
  • Smith-Magenis syndrome4 tests
  • Smith-McCort dysplasia 13 tests
  • Sneddon syndrome2 tests
  • Snowflake vitreoretinal degeneration4 tests
  • Sodium serum level quantitative trait locus 19 tests
  • Solitary median maxillary central incisor9 tests
  • Somatotroph adenoma3 tests
  • Sorsby fundus dystrophy6 tests
  • Sotos syndrome 110 tests
  • Spastic ataxia 5, autosomal recessive6 tests
  • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy1 test
  • Spastic paraplegia 11, autosomal recessive5 tests
  • Spastic paraplegia 176 tests
  • Spastic paraplegia 28, autosomal recessive2 tests
  • Spastic paraplegia 30, autosomal recessive5 tests
  • Spastic paraplegia 31, autosomal dominant7 tests
  • Spastic paraplegia 33, autosomal dominant2 tests
  • Spastic paraplegia 357 tests
  • Spastic paraplegia 4, autosomal dominant7 tests
  • Spastic paraplegia 42, autosomal dominant5 tests
  • Spastic paraplegia 43, autosomal recessive2 tests
  • Spastic paraplegia 44, autosomal recessive10 tests
  • Spastic paraplegia 45, autosomal recessive1 test
  • Spastic paraplegia 46, autosomal recessive6 tests
  • Spastic paraplegia 47, autosomal recessive2 tests
  • Spastic paraplegia 48, autosomal recessive2 tests
  • Spastic paraplegia 49, autosomal recessive1 test
  • Spastic paraplegia 50, autosomal recessive2 tests
  • Spastic paraplegia 51, autosomal recessive2 tests
  • Spastic paraplegia 52, autosomal recessive2 tests
  • Spastic paraplegia 53, autosomal recessive2 tests
  • Spastic paraplegia 54, autosomal recessive1 test
  • Spastic paraplegia 55, autosomal recessive3 tests
  • Spastic paraplegia 56, autosomal recessive3 tests
  • Spastic paraplegia 57, autosomal recessive3 tests
  • Spastic paraplegia 61, autosomal recessive1 test
  • Spastic paraplegia 63, autosomal recessive2 tests
  • Spastic paraplegia 64, autosomal recessive2 tests
  • Spastic paraplegia 72, autosomal recessive1 test
  • Spastic paraplegia 74, autosomal recessive5 tests
  • Spastic paraplegia 76, autosomal recessive3 tests
  • Spastic paraplegia 77, autosomal recessive2 tests
  • Spastic paraplegia 78, autosomal recessive7 tests
  • Spastic paraplegia 79, autosomal recessive2 tests
  • Spastic paraplegia 9b, autosomal recessive6 tests
  • Spastic paraplegia and psychomotor retardation with or without seizures1 test
  • Specific granule deficiency 11 test
  • Specific granule deficiency 22 tests
  • Speech-language disorder 14 tests
  • Spermatogenic Failure1 test
  • Spermatogenic failure 101 test
  • Spermatogenic failure 112 tests
  • Spermatogenic failure 123 tests
  • Spermatogenic failure 133 tests
  • Spermatogenic failure 141 test
  • Spermatogenic failure 152 tests
  • Spermatogenic failure 162 tests
  • Spermatogenic failure 172 tests
  • Spermatogenic failure 284 tests
  • Spermatogenic failure 32 tests
  • Spermatogenic failure 43 tests
  • Spermatogenic failure 76 tests
  • Spermatogenic failure 86 tests
  • Spermatogenic failure 94 tests
  • Spermatogenic failure, X-linked, 22 tests
  • Spermatogenic failure, Y-linked 22 tests
  • Spherocytosis type 12 tests
  • Spherocytosis type 22 tests
  • Spherocytosis type 32 tests
  • Spherocytosis type 44 tests
  • Spherocytosis type 53 tests
  • Spheroid body myopathy5 tests
  • Sphingolipid activator protein 1 deficiency6 tests
  • Spinal muscular atrophy1 test
  • Spinal muscular atrophy with congenital bone fractures 12 tests
  • Spinal muscular atrophy with congenital bone fractures 21 test
  • Spinal muscular atrophy, distal, autosomal recessive, 18 tests
  • Spinal muscular atrophy, distal, autosomal recessive, 54 tests
  • Spinal muscular atrophy, jokela type8 tests
  • Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant6 tests
  • Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant3 tests
  • Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant3 tests
  • Spinal muscular atrophy, type II4 tests
  • Spinal muscular atrophy, type IV4 tests
  • Spinal muscular atrophy, X-linked 26 tests
  • Spinal muscular atrophy-progressive myoclonic epilepsy syndrome4 tests
  • Spinocerebellar ataxia 352 tests
  • Spinocerebellar ataxia 381 test
  • Spinocerebellar ataxia 402 tests
  • Spinocerebellar ataxia 421 test
  • Spinocerebellar ataxia 433 tests
  • Spinocerebellar ataxia 71 test
  • Spinocerebellar ataxia type 11 test
  • Spinocerebellar ataxia type 102 tests
  • Spinocerebellar ataxia type 112 tests
  • Spinocerebellar ataxia type 121 test
  • Spinocerebellar ataxia type 132 tests
  • Spinocerebellar ataxia type 144 tests
  • Spinocerebellar Ataxia Type 153 tests
  • Spinocerebellar ataxia type 171 test
  • Spinocerebellar ataxia type 181 test
  • Spinocerebellar ataxia type 19/226 tests
  • Spinocerebellar ataxia type 21 test
  • Spinocerebellar ataxia type 211 test
  • Spinocerebellar ataxia type 234 tests
  • Spinocerebellar ataxia type 262 tests
  • Spinocerebellar ataxia type 272 tests
  • Spinocerebellar ataxia type 286 tests
  • Spinocerebellar ataxia type 293 tests
  • Spinocerebellar ataxia type 42 tests
  • Spinocerebellar ataxia type 52 tests
  • Spinocerebellar ataxia type 612 tests
  • Spinocerebellar ataxia type 81 test
  • Spinocerebellar ataxia, autosomal recessive 103 tests
  • Spinocerebellar ataxia, autosomal recessive 111 test
  • Spinocerebellar ataxia, autosomal recessive 123 tests
  • Spinocerebellar ataxia, autosomal recessive 132 tests
  • Spinocerebellar ataxia, autosomal recessive 142 tests
  • Spinocerebellar ataxia, autosomal recessive 152 tests
  • Spinocerebellar ataxia, autosomal recessive 161 test
  • Spinocerebellar ataxia, autosomal recessive 171 test
  • Spinocerebellar ataxia, autosomal recessive 181 test
  • Spinocerebellar ataxia, autosomal recessive 22 tests
  • Spinocerebellar ataxia, autosomal recessive 201 test
  • Spinocerebellar ataxia, autosomal recessive 215 tests
  • Spinocerebellar ataxia, autosomal recessive 241 test
  • Spinocerebellar ataxia, autosomal recessive 262 tests
  • Spinocerebellar ataxia, autosomal recessive 88 tests
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 13 tests
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 27 tests
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 32 tests
  • Spinocerebellar ataxia, X-linked 11 test
  • Split hand1 test
  • Split-foot malformation with mesoaxial polydactyly1 test
  • Split-hand/foot malformation 1 with sensorineural hearing loss3 tests
  • Split-hand/foot malformation 48 tests
  • Split-hand/foot malformation 63 tests
  • Spondylo-megaepiphyseal-metaphyseal dysplasia1 test
  • Spondylocarpotarsal synostosis syndrome5 tests
  • Spondylocheirodysplasia, Ehlers-Danlos syndrome-like1 test
  • Spondylocostal dysostosis 1, autosomal recessive4 tests
  • Spondylocostal dysostosis 2, autosomal recessive3 tests
  • Spondylocostal dysostosis 3, autosomal recessive2 tests
  • Spondylocostal dysostosis 4, autosomal recessive2 tests
  • Spondylocostal dysostosis 52 tests
  • Spondylocostal dysostosis 6, autosomal recessive3 tests
  • Spondyloenchondrodysplasia with immune dysregulation2 tests
  • Spondyloepimetaphyseal dysplasia Matrilin-3 related1 test
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures3 tests
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 22 tests
  • Spondyloepimetaphyseal dysplasia, Missouri type2 tests
  • Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy5 tests
  • Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome1 test
  • Spondyloepiphyseal dysplasia congenita18 tests
  • Spondyloepiphyseal dysplasia Maroteaux type9 tests
  • Spondyloepiphyseal dysplasia tarda2 tests
  • Spondyloepiphyseal dysplasia with congenital joint dislocations1 test
  • Spondylometaphyseal dysplasia18 tests
  • Spondylometaphyseal dysplasia, Kozlowski type9 tests
  • Spondylometaphyseal dysplasia, Sedaghatian type1 test
  • Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome2 tests
  • Spondyloperipheral dysplasia-short ulna syndrome18 tests
  • Spongiform encephalopathy with neuropsychiatric features10 tests
  • Spongy degeneration of central nervous system7 tests
  • Stapes ankylosis with broad thumb and toes2 tests
  • Stargardt disease 19 tests
  • Stargardt Disease 38 tests
  • Stargardt disease 46 tests
  • Steatocystoma multiplex3 tests
  • Steinert myotonic dystrophy syndrome3 tests
  • Stickler syndrome type 118 tests
  • Stickler syndrome type 26 tests
  • Stickler syndrome, type 44 tests
  • Stickler syndrome, type 54 tests
  • Stickler syndrome, type I, nonsyndromic ocular18 tests
  • Stiff skin syndrome5 tests
  • Sting-associated vasculopathy, infantile-onset2 tests
  • Stocco dos Santos syndrome1 test
  • Stomach cancer3 tests
  • Stomatin-deficient cryohydrocytosis with neurologic defects12 tests
  • Striatal degeneration, autosomal dominant 12 tests
  • Striatal degeneration, autosomal dominant 22 tests
  • Striatal necrosis, bilateral, and progressive polyneuropathy5 tests
  • Striatonigral degeneration, childhood-onset1 test
  • Stromme syndrome1 test
  • Sturge-Weber syndrome4 tests
  • Stuttering, familial persistent 12 tests
  • Stüve-Wiedemann syndrome2 tests
  • Succinate-semialdehyde dehydrogenase deficiency3 tests
  • Succinyl-CoA acetoacetate transferase deficiency2 tests
  • Sucrase-isomaltase deficiency2 tests
  • Sudanophilic leukodystrophy11 tests
  • Sudden cardiac failure, alcohol-induced1 test
  • Sudden cardiac failure, infantile1 test
  • Sudden death1 test
  • SUDDEN INFANT DEATH SYNDROME11 tests
  • Sudden infant death with dysgenesis of the testes syndrome1 test
  • Supravalvar aortic stenosis2 tests
  • Surfactant metabolism dysfunction, pulmonary, 12 tests
  • Surfactant metabolism dysfunction, pulmonary, 22 tests
  • Surfactant metabolism dysfunction, pulmonary, 33 tests
  • Surfactant metabolism dysfunction, pulmonary, 45 tests
  • Surfactant metabolism dysfunction, pulmonary, 53 tests
  • Susceptibility to hepatitis C virus4 tests
  • Susceptibility to malaria18 tests
  • Sveinsson chorioretinal atrophy2 tests
  • Symmetrical dyschromatosis of extremities9 tests
  • Symphalangism, proximal, 1A2 tests
  • Symphalangism, proximal, 1B4 tests
  • Symphalangism-brachydactyly syndrome2 tests
  • Syndactyly type 35 tests
  • Syndactyly, type IV1 test
  • Syndactyly, type V2 tests
  • Syndactyly-telecanthus-anogenital and renal malformations syndrome3 tests
  • Syndromic mental retardation, Nascimento type, X-linked2 tests
  • Syndromic microphthalmia type 59 tests
  • Syndromic X-linked intellectual disability Lubs type6 tests
  • Syndromic X-linked intellectual disability Siderius type3 tests
  • Syndromic X-linked intellectual disability Snyder type2 tests
  • Syndromic X-linked mental retardation, Cabezas type3 tests
  • Synpolydactyly 12 tests
  • Synpolydactyly 21 test
  • Systemic lupus erythematosus14 tests
  • Systemic lupus erythematosus 93 tests
  • T-cell immunodeficiency, congenital alopecia, and nail dystrophy2 tests
  • T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations1 test
  • T-cell receptor alpha/beta deficiency1 test
  • Takenouchi-Kosaki syndrome2 tests
  • Talipes equinovarus3 tests
  • Tangier disease5 tests
  • TARP syndrome1 test
  • Tarsal-carpal coalition syndrome2 tests
  • Tatton-Brown-rahman syndrome4 tests
  • Tay-Sachs disease8 tests
  • Tay-Sachs disease, variant AB4 tests
  • Telangiectasia, hereditary hemorrhagic, type 25 tests
  • Telangiectasia, hereditary hemorrhagic, type 53 tests
  • Temple-Baraitser syndrome1 test
  • Temtamy preaxial brachydactyly syndrome2 tests
  • Temtamy syndrome2 tests
  • Terminal osseous dysplasia9 tests
  • Testicular anomalies with or without congenital heart disease3 tests
  • Testosterone 17-beta-dehydrogenase deficiency3 tests
  • Tetraamelia, autosomal recessive2 tests
  • Tetralogy of Fallot19 tests
  • Thanatophoric dysplasia type 111 tests
  • Thanatophoric dysplasia, type 211 tests
  • Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)3 tests
  • Thiel-Behnke corneal dystrophy2 tests
  • Thiopurine methyltransferase deficiency1 test
  • Three M syndrome 12 tests
  • Three M syndrome 22 tests
  • Three M syndrome 31 test
  • Thrombocythemia 18 tests
  • Thrombocythemia 36 tests
  • Thrombocytopenia 18 tests
  • Thrombocytopenia 24 tests
  • Thrombocytopenia 32 tests
  • Thrombocytopenia 43 tests
  • Thrombocytopenia 52 tests
  • Thrombocytopenia 62 tests
  • Thrombocytopenia, anemia, and myelofibrosis1 test
  • Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis8 tests
  • Thrombocytopenia, X-linked, with or without dyserythropoietic anemia8 tests
  • Thrombocytosis, benign familial microcytic7 tests
  • Thrombophilia due to factor V Leiden5 tests
  • Thrombophilia due to protein S deficiency, autosomal dominant3 tests
  • Thrombophilia due to protein S deficiency, autosomal recessive3 tests
  • Thrombophilia due to thrombin defect13 tests
  • Thrombophilia due to thrombomodulin defect5 tests
  • Thrombophilia, familial, due to decreased release of tissue plasminogen activator1 test
  • Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant2 tests
  • Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive2 tests
  • Thrombophilia, histidine-rich glycoprotein-related1 test
  • Thrombophilia, X-linked, due to factor IX defect4 tests
  • Thyroid cancer, nonmedullary, 212 tests
  • Thyroid cancer, nonmedullary, 41 test
  • Thyroid cancer, nonmedullary, 51 test
  • Thyroid dyshormonogenesis 12 tests
  • Thyroid hormone metabolism, abnormal1 test
  • Thyroid hormone resistance, generalized, autosomal dominant2 tests
  • Thyroid hormone resistance, generalized, autosomal recessive2 tests
  • Thyroid hormone resistance, selective pituitary2 tests
  • Thyrotoxic periodic paralysis 22 tests
  • Thyrotoxic periodic paralysis, susceptibility to, 15 tests
  • Tibia, hypoplasia or aplasia of, with polydactyly1 test
  • Tibial muscular dystrophy12 tests
  • Tietz syndrome3 tests
  • Timothy syndrome9 tests
  • TNF receptor-associated periodic fever syndrome (TRAPS)5 tests
  • Tobacco addiction, susceptibility to7 tests
  • Tooth agenesis, selective, 31 test
  • Tooth agenesis, selective, 43 tests
  • Tooth agenesis, selective, 72 tests
  • Tooth agenesis, selective, 83 tests
  • Tooth agenesis, selective, X-linked, 12 tests
  • Torsion dystonia 23 tests
  • Torsion dystonia 62 tests
  • Torticollis1 test
  • Townes-Brocks syndrome 17 tests
  • Townes-Brocks syndrome 23 tests
  • Transcolabamin II deficiency2 tests
  • Transient bullous dermolysis of the newborn5 tests
  • Transient neonatal diabetes mellitus 12 tests
  • Transient neonatal diabetes mellitus 212 tests
  • Transient neonatal diabetes mellitus 39 tests
  • Transposition of the great arteries, dextro-looped 14 tests
  • Transposition of the great arteries, dextro-looped 33 tests
  • Treacher Collins syndrome 13 tests
  • Treacher Collins syndrome 24 tests
  • Treacher Collins syndrome 36 tests
  • Tremor, hereditary essential, 43 tests
  • Tricho-dento-osseous syndrome1 test
  • Trichohepatoenteric syndrome 14 tests
  • Trichohepatoenteric syndrome 22 tests
  • Trichomegaly-retina pigmentary degeneration-dwarfism syndrome8 tests
  • Trichorhinophalangeal dysplasia type I3 tests
  • Trichorhinophalangeal syndrome, type III3 tests
  • Trichothiodystrophy 1, photosensitive8 tests
  • Trichothiodystrophy 2, photosensitive9 tests
  • Trichothiodystrophy 3, photosensitive5 tests
  • Trichothiodystrophy 5, nonphotosensitive1 test
  • Trichothiodystrophy 6, nonphotosensitive1 test
  • Trichothiodystrophy, nonphotosensitive 13 tests
  • Triglyceride storage disease with ichthyosis4 tests
  • Trigonocephaly 113 tests
  • Trigonocephaly 26 tests
  • Trimethylaminuria1 test
  • Triosephosphate isomerase deficiency2 tests
  • Trisomy X syndrome2 tests
  • Tropical calcific pancreatitis4 tests
  • Troyer syndrome3 tests
  • Tuberous sclerosis 110 tests
  • Tuberous sclerosis 210 tests
  • Tumor susceptibility linked to germline BAP1 mutations3 tests
  • Tumoral calcinosis, familial, normophosphatemic5 tests
  • Turcot syndrome22 tests
  • Turner syndrome2 tests
  • Type 2 diabetes mellitus47 tests
  • Type D brachydactyly2 tests
  • Type I complement component 8 deficiency1 test
  • Type II complement component 8 deficiency1 test
  • Tyrosinase-negative oculocutaneous albinism5 tests
  • Tyrosinase-positive oculocutaneous albinism5 tests
  • Tyrosinemia type 32 tests
  • Tyrosinemia type I7 tests
  • Tyrosinemia type II3 tests
  • UDPglucose-4-epimerase deficiency3 tests
  • Ullrich congenital muscular dystrophy 112 tests
  • Ullrich congenital muscular dystrophy 24 tests
  • Ulnar-mammary syndrome2 tests
  • Unverricht-Lundborg syndrome4 tests
  • Upshaw-Schulman syndrome4 tests
  • Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to2 tests
  • Urocanate hydratase deficiency1 test
  • Urofacial syndrome 15 tests
  • Urofacial syndrome 24 tests
  • Usher syndrome type 18 tests
  • Usher syndrome type 1D11 tests
  • Usher syndrome type 1F9 tests
  • Usher syndrome, type 1C5 tests
  • Usher syndrome, type 1G5 tests
  • Usher syndrome, type 1J5 tests
  • Usher syndrome, type 2A7 tests
  • Usher syndrome, type 2C7 tests
  • Usher syndrome, type 2D5 tests
  • Usher syndrome, type 3B5 tests
  • Usher syndrome, type 43 tests
  • Usher Syndrome, Type III8 tests
  • UV-sensitive syndrome 112 tests
  • UV-sensitive syndrome 29 tests
  • UV-sensitive syndrome 31 test
  • VACTERL association, X-linked, with or without hydrocephalus10 tests
  • Van Buchem disease type 29 tests
  • Van den Ende-Gupta syndrome4 tests
  • van der Woude syndrome 17 tests
  • Van der Woude syndrome 23 tests
  • Van Maldergem syndrome 11 test
  • Van Maldergem syndrome 23 tests
  • Variegate porphyria12 tests
  • Vas deferens, congenital bilateral aplasia of, X-linked1 test
  • Vascular malformation, primary intraosseous2 tests
  • VATER association1 test
  • Velocardiofacial syndrome5 tests
  • Ventricular fibrillation, paroxysmal familial, 21 test
  • Ventricular septal defect 13 tests
  • Ventricular septal defect 35 tests
  • Ventricular tachycardia, catecholaminergic polymorphic, 26 tests
  • Ventricular tachycardia, catecholaminergic polymorphic, 46 tests
  • Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness3 tests
  • Ventriculomegaly with cystic kidney disease5 tests
  • Vertical talus, congenital2 tests
  • Very long chain acyl-CoA dehydrogenase deficiency8 tests
  • Vesicoureteral reflux 23 tests
  • Vesicoureteral reflux 33 tests
  • Vesicoureteral reflux 84 tests
  • VEXAS syndrome1 test
  • Vici syndrome7 tests
  • Visceral heterotaxy 5, autosomal2 tests
  • Visceral myopathy4 tests
  • VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE1 test
  • Vitamin B12-responsive methylmalonic acidemia type cblA2 tests
  • Vitamin B12-responsive methylmalonic acidemia type cblB3 tests
  • Vitamin d hydroxylation-deficient rickets, type 1b4 tests
  • Vitamin D-dependent rickets type II with alopecia1 test
  • Vitamin D-dependent rickets, type 12 tests
  • Vitamin K-dependent clotting factors, combined deficiency of, 12 tests
  • Vitamin K-dependent clotting factors, combined deficiency of, 22 tests
  • Vitelliform macular dystrophy type 29 tests
  • Vitiligo-associated multiple autoimmune disease susceptibility 12 tests
  • Vitreoretinochoroidopathy9 tests
  • Vitreoretinopathy, neovascular inflammatory2 tests
  • Vohwinkel syndrome, variant form1 test
  • Von Hippel-Lindau syndrome11 tests
  • von Willebrand disease type 16 tests
  • von Willebrand disease type 26 tests
  • Von Willebrand disease, recessive form6 tests
  • Waardenburg syndrome type 14 tests
  • Waardenburg syndrome type 2A3 tests
  • Waardenburg syndrome type 2D4 tests
  • Waardenburg syndrome type 2E9 tests
  • Waardenburg syndrome type 34 tests
  • Waardenburg syndrome type 4A5 tests
  • Waardenburg syndrome type 4B6 tests
  • Waardenburg syndrome type 4C9 tests
  • Wagner syndrome3 tests
  • Warburg micro syndrome 14 tests
  • Warburg micro syndrome 25 tests
  • Warburg micro syndrome 33 tests
  • Warburg micro syndrome 42 tests
  • Warfarin response6 tests
  • Warts, hypogammaglobulinemia, infections, and myelokathexis4 tests
  • Weaver syndrome7 tests
  • Weill-Marchesani syndrome 14 tests
  • Weill-Marchesani syndrome 25 tests
  • Weill-Marchesani syndrome 32 tests
  • Welander distal myopathy3 tests
  • Werdnig-Hoffmann disease4 tests
  • Werner syndrome7 tests
  • White-sutton syndrome1 test
  • Wieacker-Wolff syndrome2 tests
  • Wiedemann-Steiner syndrome2 tests
  • Williams syndrome4 tests
  • Wilms tumor 132 tests
  • Wilms tumor 21 test
  • Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome22 tests
  • Wilson disease7 tests
  • Wilson-Turner X-linked mental retardation syndrome2 tests
  • Wiskott-Aldrich syndrome8 tests
  • Wiskott-Aldrich syndrome 25 tests
  • Wolcott-Rallison dysplasia2 tests
  • Wolff-Parkinson-White pattern9 tests
  • Wolfram syndrome 16 tests
  • Wolfram syndrome 22 tests
  • Wolfram-like syndrome, autosomal dominant6 tests
  • Woolly hair, autosomal dominant3 tests
  • Worth disease9 tests
  • Wrinkly skin syndrome4 tests
  • X-linked agammaglobulinemia5 tests
  • X-linked agammaglobulinemia with growth hormone deficiency5 tests
  • X-linked chondrodysplasia punctata 14 tests
  • X-linked cone-rod dystrophy 34 tests
  • X-linked dystonia-parkinsonism3 tests
  • X-linked hydrocephalus syndrome6 tests
  • X-linked ichthyosis with steryl-sulfatase deficiency3 tests
  • X-linked intellectual disability-hypotonic face syndrome5 tests
  • X-Linked Mental Retardation 411 test
  • X-Linked Mental Retardation 881 test
  • X-Linked Mental Retardation 891 test
  • X-Linked mental retardation 903 tests
  • X-linked mental retardation with marfanoid habitus syndrome7 tests
  • X-linked myopathy with excessive autophagy3 tests
  • X-linked recessive nephrolithiasis with renal failure5 tests
  • X-linked severe combined immunodeficiency3 tests
  • X-linked severe congenital neutropenia8 tests
  • X-linked sideroblastic anemia with ataxia3 tests
  • Xanthinuria type II1 test
  • Xeroderma pigmentosum group A6 tests
  • Xeroderma pigmentosum variant type2 tests
  • Xeroderma pigmentosum, complementation group b9 tests
  • Xeroderma pigmentosum, group C3 tests
  • Xeroderma pigmentosum, group D8 tests
  • Xeroderma pigmentosum, group E2 tests
  • Xeroderma pigmentosum, group F5 tests
  • Xeroderma pigmentosum, group G4 tests
  • XFE progeroid syndrome5 tests
  • Y chromosome-related disorders1 test
  • Yao syndrome3 tests
  • You-Hoover-Fong syndrome2 tests
  • Yunis-Varon syndrome8 tests
  • Zimmermann-Laband syndrome 11 test
  • Zimmermann-Laband syndrome 21 test
  • ZNF711-Related X-linked Mental Retardation1 test
  • Zonular pulverulent cataract 32 tests
  • ZTTK syndrome2 tests

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Balanced Chromosome Rearrangement Studies
  • Custom Deletion/Duplication Testing
  • Prenatal testing
  • Custom Sequence Analysis
  • Custom microarray analysis
  • Carrier testing
  • Genetic counseling
  • Identity Testing
  • Maternal cell contamination study (MCC)
  • Mutation Confirmation
  • Result interpretation
  • Uniparental Disomy (UPD) Testing
  • Whole Exome Sequencing

List of certifications/licenses

Certifications

  • CLIAHelp, Number: 99D1066287, Expiration date: 2022-06-08

Participation in external programs

Standardization programs

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

Data exchange Programs

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

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

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