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Invitae

GTR Lab ID: 500031, Last updated:2021-10-12

Personnel

Conditions and tests

  • 1q21.1 recurrent microdeletion2 tests
  • 2,4-Dienoyl-CoA reductase deficiency5 tests
  • 2-aminoadipic 2-oxoadipic aciduria3 tests
  • 2-hydroxyglutaric aciduria5 tests
  • 3 beta-Hydroxysteroid dehydrogenase deficiency1 test
  • 3 Methylcrotonyl-CoA carboxylase 1 deficiency10 tests
  • 3-methylcrotonyl CoA carboxylase 2 deficiency8 tests
  • 3-Methylglutaconic aciduria type 18 tests
  • 3-Methylglutaconic aciduria type 217 tests
  • 3-Methylglutaconic aciduria type 38 tests
  • 3-methylglutaconic aciduria type 96 tests
  • 3-methylglutaconic aciduria type V7 tests
  • 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia9 tests
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome8 tests
  • 3-methylglutaconic aciduria, type VIII5 tests
  • 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency2 tests
  • 46,XX sex reversal 41 test
  • 46,xx sex reversal 51 test
  • 46,XX sex reversal, type 11 test
  • 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy1 test
  • 46,XY sex reversal 92 tests
  • 46,XY sex reversal, type 12 tests
  • 46,XY sex reversal, type 23 tests
  • 46,XY sex reversal, type 31 test
  • 46,XY sex reversal, type 51 test
  • 46,XY sex reversal, type 61 test
  • 46,XY sex reversal, type 71 test
  • 4p partial monosomy syndrome2 tests
  • 5-Oxoprolinase deficiency2 tests
  • 5p partial monosomy syndrome9 tests
  • Abacavir hypersensitivity1 test
  • ABCD syndrome2 tests
  • Abdominal obesity-metabolic syndrome 31 test
  • Abetalipoproteinaemia6 tests
  • Ablepharon macrostomia syndrome1 test
  • Abortive cerebellar ataxia4 tests
  • ABri amyloidosis1 test
  • Acetyl-CoA: carboxylase deficiency1 test
  • Acheiropodia1 test
  • Achondrogenesis type II4 tests
  • Achondrogenesis, type IA4 tests
  • Achondrogenesis, type IB3 tests
  • Achondroplasia3 tests
  • Achromatopsia2 tests
  • Achromatopsia 21 test
  • Achromatopsia 31 test
  • Achromatopsia 41 test
  • Achromatopsia 71 test
  • Acne inversa, familial, 21 test
  • Acne inversa, familial, 32 tests
  • Acquired hemoglobin H disease2 tests
  • Acquired partial lipodystrophy1 test
  • Acrocallosal syndrome6 tests
  • Acrocapitofemoral dysplasia3 tests
  • Acrocephalosyndactyly type I4 tests
  • Acrodysostosis 1 with or without hormone resistance3 tests
  • Acrodysostosis 2, with or without hormone resistance2 tests
  • Acrofacial dysostosis, Cincinnati type3 tests
  • Acrokeratosis verruciformis of Hopf1 test
  • Acromelic frontonasal dysostosis2 tests
  • Acromesomelic dysplasia, Demirhan type2 tests
  • Acromesomelic dysplasia, Hunter-Thompson type2 tests
  • Acromesomelic dysplasia, Maroteaux type4 tests
  • Acromicric dysplasia4 tests
  • ACTH-independent macronodular adrenal hyperplasia 11 test
  • Acute febrile neutrophilic dermatosis5 tests
  • Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins3 tests
  • Acute intermittent porphyria8 tests
  • Acute lymphoid leukemia7 tests
  • Acute myeloid leukemia14 tests
  • Acyl-CoA dehydrogenase family, member 9, deficiency of7 tests
  • Adams-Oliver syndrome1 test
  • Adams-Oliver syndrome 12 tests
  • Adams-Oliver syndrome 22 tests
  • Adams-Oliver syndrome 32 tests
  • Adams-Oliver syndrome 43 tests
  • Adams-Oliver syndrome 55 tests
  • Adams-Oliver syndrome 62 tests
  • ADan amyloidosis1 test
  • Adenine phosphoribosyltransferase deficiency2 tests
  • Adenosine kinase deficiency6 tests
  • Adenosine triphosphate, elevated, of erythrocytes1 test
  • Adenylate kinase deficiency, hemolytic anemia due to1 test
  • Adenylosuccinate lyase deficiency7 tests
  • Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete1 test
  • Adrenocortical carcinoma, hereditary1 test
  • Adrenocorticotropic hormone deficiency1 test
  • Adrenoleukodystrophy10 tests
  • Adult hypophosphatasia2 tests
  • Adult neuronal ceroid lipofuscinosis2 tests
  • Adult polyglucosan body disease4 tests
  • Adult proximal spinal muscular atrophy, autosomal dominant4 tests
  • ADULT syndrome3 tests
  • Afibrinogenemia1 test
  • Agammaglobulinemia 2, autosomal recessive3 tests
  • Agammaglobulinemia 3, autosomal recessive3 tests
  • Agammaglobulinemia 4, autosomal recessive3 tests
  • Agammaglobulinemia 5, autosomal dominant2 tests
  • Agammaglobulinemia 6, autosomal recessive3 tests
  • Agammaglobulinemia 7, autosomal recessive10 tests
  • Agammaglobulinemia 8, autosomal dominant2 tests
  • Age-related macular degeneration 111 test
  • Age-related macular degeneration 132 tests
  • Age-related macular degeneration 142 tests
  • Age-related macular degeneration 21 test
  • Age-related macular degeneration 32 tests
  • Age-related macular degeneration 42 tests
  • Age-related macular degeneration 51 test
  • Age-related macular degeneration 61 test
  • Age-related macular degeneration 73 tests
  • Age-related macular degeneration 92 tests
  • Agenesis of corpus callosum, cardiac, ocular, and genital syndrome3 tests
  • Agenesis of the corpus callosum with peripheral neuropathy4 tests
  • AICAR transformylase/IMP cyclohydrolase deficiency1 test
  • Aicardi Goutieres syndrome3 tests
  • Aicardi Goutieres syndrome 111 tests
  • Aicardi Goutieres syndrome 28 tests
  • Aicardi Goutieres syndrome 38 tests
  • Aicardi Goutieres syndrome 48 tests
  • Aicardi Goutieres syndrome 58 tests
  • Aicardi-Goutieres syndrome 68 tests
  • Aicardi-Goutieres syndrome 78 tests
  • Al-Gazali syndrome4 tests
  • Alacrima, achalasia, and mental retardation syndrome2 tests
  • Alagille syndrome 17 tests
  • Alagille syndrome 26 tests
  • Alazami syndrome1 test
  • Alcohol dependence2 tests
  • Alexander Disease4 tests
  • ALG1-CDG4 tests
  • ALG12-congenital disorder of glycosylation4 tests
  • ALG2-CDG5 tests
  • ALG3-CDG3 tests
  • ALG8-CDG4 tests
  • ALG9 congenital disorder of glycosylation3 tests
  • Alkaline ceramidase 3 deficiency1 test
  • Alkaptonuria3 tests
  • Allan-Herndon-Dudley syndrome3 tests
  • alpha Thalassemia6 tests
  • Alpha thalassemia-mental retardation syndrome2 tests
  • Alpha thalassemia-X-linked intellectual disability syndrome5 tests
  • Alpha-1-antitrypsin deficiency4 tests
  • Alpha-B crystallinopathy5 tests
  • Alpha-methylacyl-CoA racemase deficiency7 tests
  • Alpha-N-acetylgalactosaminidase deficiency type 12 tests
  • Alpha-N-acetylgalactosaminidase deficiency type 22 tests
  • Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity7 tests
  • Alport syndrome2 tests
  • Alport syndrome 1, X-linked recessive3 tests
  • Alport syndrome 3, autosomal dominant3 tests
  • Alport syndrome, autosomal recessive3 tests
  • Alstrom syndrome9 tests
  • Alternating hemiplegia of childhood 13 tests
  • Alternating hemiplegia of childhood 25 tests
  • Alveolar rhabdomyosarcoma1 test
  • Alzheimer disease6 tests
  • Alzheimer disease, type 34 tests
  • Alzheimer disease, type 43 tests
  • Amelia, autosomal recessive1 test
  • Amelocerebrohypohidrotic syndrome1 test
  • Amelogenesis imperfecta type 1G1 test
  • Amelogenesis imperfecta, type IV1 test
  • Aminoacylase 1 deficiency1 test
  • Aminoglycoside-induced deafness1 test
  • Amish lethal microcephaly6 tests
  • Amitriptyline response1 test
  • Amyloidogenic transthyretin amyloidosis6 tests
  • Amyotrophic lateral sclerosis2 tests
  • Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia7 tests
  • Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia5 tests
  • Amyotrophic lateral sclerosis 16, juvenile2 tests
  • Amyotrophic lateral sclerosis 173 tests
  • Amyotrophic lateral sclerosis 183 tests
  • Amyotrophic lateral sclerosis 192 tests
  • Amyotrophic lateral sclerosis 212 tests
  • Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia4 tests
  • Amyotrophic lateral sclerosis type 18 tests
  • Amyotrophic lateral sclerosis type 104 tests
  • Amyotrophic lateral sclerosis type 117 tests
  • Amyotrophic lateral sclerosis type 124 tests
  • Amyotrophic lateral sclerosis type 2, juvenile5 tests
  • Amyotrophic lateral sclerosis type 232 tests
  • Amyotrophic lateral sclerosis type 43 tests
  • Amyotrophic lateral sclerosis type 59 tests
  • Amyotrophic lateral sclerosis type 85 tests
  • Amyotrophic lateral sclerosis type 92 tests
  • Amyotrophic lateral sclerosis, susceptibility to, 241 test
  • Amyotrophic lateral sclerosis, susceptibility to, 257 tests
  • Analbuminemia1 test
  • Anauxetic dysplasia 16 tests
  • Anauxetic dysplasia 22 tests
  • Andersen Tawil syndrome6 tests
  • Androgen resistance syndrome2 tests
  • Anemia without thromobocytopenia, X-linked5 tests
  • Anemia, congenital dyserythropoietic, type 1a1 test
  • Anemia, hypochromic microcytic, with iron overload 11 test
  • Anemia, nonspherocytic hemolytic, due to G6PD deficiency10 tests
  • Anemia, sideroblastic, 14 tests
  • Anemia, sideroblastic, 2, pyridoxine-refractory2 tests
  • Angelman syndrome3 tests
  • Angelman syndrome-like1 test
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps8 tests
  • Aniridia 16 tests
  • Anomaly of sex chromosome8 tests
  • Anophthalmia-microphthalmia syndrome3 tests
  • Anophthalmia/microphthalmia-esophageal atresia syndrome4 tests
  • Anterior segment dysgenesis 12 tests
  • Anterior segment dysgenesis 35 tests
  • Anterior segment dysgenesis 43 tests
  • Anterior segment dysgenesis 62 tests
  • Anterior segment dysgenesis 71 test
  • Antithrombin III deficiency2 tests
  • Antley-Bixler syndrome1 test
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis3 tests
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis4 tests
  • Aortic aneurysm, familial thoracic 101 test
  • Aortic aneurysm, familial thoracic 11, susceptibility to2 tests
  • Aortic aneurysm, familial thoracic 42 tests
  • Aortic aneurysm, familial thoracic 62 tests
  • Aortic aneurysm, familial thoracic 71 test
  • Aortic aneurysm, familial thoracic 81 test
  • Aortic aneurysm, familial thoracic 91 test
  • Aortic valve disease 15 tests
  • Aortic valve disease 21 test
  • Aplastic anemia11 tests
  • Apolipoprotein C2 deficiency2 tests
  • Apparent mineralocorticoid excess1 test
  • Arboleda-Tham syndrome1 test
  • Arginase deficiency12 tests
  • Arginine:glycine amidinotransferase deficiency8 tests
  • Argininosuccinate lyase deficiency10 tests
  • Ariboflavinosis6 tests
  • Aripiprazole response1 test
  • Aromatase deficiency3 tests
  • Aromatase excess syndrome1 test
  • Arrhinia with choanal atresia and microphthalmia syndrome3 tests
  • Arrhythmia6 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 105 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 116 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 125 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 56 tests
  • Arrhythmogenic right ventricular dysplasia 86 tests
  • Arrhythmogenic right ventricular dysplasia 96 tests
  • Arrhythmogenic right ventricular dysplasia, familial 12 tests
  • Arrhythmogenic right ventricular dysplasia, familial, 143 tests
  • Arrhythmogenic right ventricular dysplasia, familial, 27 tests
  • Arterial tortuosity syndrome1 test
  • Arteriohepatic dysplasia2 tests
  • Arthrogryposis multiplex congenita 3, myogenic type1 test
  • Arthrogryposis multiplex congenita 52 tests
  • Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development2 tests
  • Arthrogryposis, distal, type 2B31 test
  • Arthrogryposis, distal, with impaired proprioception and touch1 test
  • Arthrogryposis, mental retardation, and seizures4 tests
  • Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome1 test
  • Arts syndrome9 tests
  • Aryl hydrocarbon hydroxylase inducibility1 test
  • Asparagine synthetase deficiency10 tests
  • Aspartylglucosaminuria8 tests
  • Asphyxiating thoracic dystrophy 24 tests
  • Asphyxiating thoracic dystrophy 46 tests
  • Asphyxiating thoracic dystrophy 55 tests
  • Asplenia, isolated congenital1 test
  • Ataxia, spastic, 1, autosomal dominant3 tests
  • Ataxia, spastic, 2, autosomal recessive1 test
  • Ataxia, spastic, 3, autosomal recessive2 tests
  • Ataxia, spastic, 4, autosomal recessive1 test
  • Ataxia-hypogonadism-choroidal dystrophy syndrome2 tests
  • Ataxia-oculomotor apraxia 42 tests
  • Ataxia-oculomotor apraxia type 14 tests
  • Ataxia-pancytopenia syndrome1 test
  • Ataxia-telangiectasia syndrome13 tests
  • Ataxia-telangiectasia-like disorder 12 tests
  • Ateleiotic dwarfism1 test
  • Atelosteogenesis type 11 test
  • Atelosteogenesis type II5 tests
  • Atelosteogenesis type III1 test
  • Atomoxetine response1 test
  • Atorvastatin response2 tests
  • Atransferrinemia1 test
  • Atrial fibrillation1 test
  • Atrial fibrillation, familial, 106 tests
  • Atrial fibrillation, familial, 112 tests
  • Atrial fibrillation, familial, 125 tests
  • Atrial fibrillation, familial, 131 test
  • Atrial fibrillation, familial, 182 tests
  • Atrial fibrillation, familial, 33 tests
  • Atrial fibrillation, familial, 95 tests
  • Atrial septal defect1 test
  • Atrial septal defect 25 tests
  • Atrial septal defect 31 test
  • Atrial septal defect 44 tests
  • Atrial septal defect 56 tests
  • Atrial septal defect 7 with or without atrioventricular conduction defects4 tests
  • Atrial septal defect 92 tests
  • Atrial standstill 12 tests
  • Atrioventricular septal defect1 test
  • Atrioventricular septal defect 21 test
  • Atrioventricular septal defect 37 tests
  • Atrioventricular septal defect 45 tests
  • Atrioventricular septal defect 52 tests
  • Atrophia bulborum hereditaria2 tests
  • Attention deficit hyperactivity disorder2 tests
  • Attenuated familial adenomatous polyposis7 tests
  • Atypical hemolytic-uremic syndrome 12 tests
  • Atypical hemolytic-uremic syndrome 22 tests
  • Atypical hemolytic-uremic syndrome 32 tests
  • Atypical hemolytic-uremic syndrome 42 tests
  • Atypical hemolytic-uremic syndrome 52 tests
  • Atypical hemolytic-uremic syndrome 62 tests
  • Atypical mycobacteriosis, familial, X-linked 27 tests
  • Auditory neuropathy, autosomal dominant, 11 test
  • Autism 152 tests
  • Autism, susceptibility to, 181 test
  • Autism, susceptibility to, X-linked 33 tests
  • Autoimmune disease 62 tests
  • Autoimmune disease, multisystem, infantile-onset, 110 tests
  • Autoimmune disease, multisystem, infantile-onset, 26 tests
  • Autoimmune disease, syndromic multisystem3 tests
  • Autoimmune interstitial lung, joint, and kidney disease6 tests
  • Autoimmune lymphoproliferative syndrome4 tests
  • Autoimmune lymphoproliferative syndrome type 2B4 tests
  • Autoimmune lymphoproliferative syndrome type V7 tests
  • Autoimmune lymphoproliferative syndrome, type 1b1 test
  • Autoimmune lymphoproliferative syndrome, type 2A4 tests
  • Autoimmune lymphoproliferative syndrome, type III5 tests
  • Autoinflammation with arthritis and dyskeratosis2 tests
  • Autoinflammation with episodic fever and lymphadenopathy4 tests
  • Autoinflammation with infantile enterocolitis7 tests
  • Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated6 tests
  • Autoinflammation, immune dysregulation, and eosinophilia4 tests
  • Autoinflammation, panniculitis, and dermatosis syndrome2 tests
  • Autoinflammatory syndrome, familial, Behcet-like2 tests
  • Autosomal chromosomal disorder8 tests
  • Autosomal dominant complex spastic paraplegia type 9B1 test
  • Autosomal dominant distal renal tubular acidosis2 tests
  • Autosomal dominant hypophosphatemic rickets2 tests
  • Autosomal dominant isolated somatotropin deficiency1 test
  • Autosomal dominant medullary cystic kidney disease with hyperuricemia3 tests
  • Autosomal dominant nonsyndromic deafness 172 tests
  • Autosomal dominant nonsyndromic deafness 221 test
  • Autosomal dominant nonsyndromic deafness 2A1 test
  • Autosomal dominant nonsyndromic deafness 65 tests
  • Autosomal dominant omodysplasia2 tests
  • Autosomal dominant optic atrophy classic form4 tests
  • Autosomal dominant osteopetrosis 13 tests
  • Autosomal dominant osteopetrosis 23 tests
  • autosomal dominant palmoplantar keratoderma and congenital alopecia6 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 110 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 22 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 36 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 44 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 53 tests
  • Autosomal dominant torsion dystonia 44 tests
  • Autosomal recessive axonal neuropathy with neuromyotonia3 tests
  • Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome1 test
  • Autosomal recessive congenital ichthyosis 12 tests
  • Autosomal recessive cutis laxa type 1B1 test
  • Autosomal recessive cutis laxa type 2B1 test
  • Autosomal recessive cutis laxa type 2C2 tests
  • Autosomal recessive cutis laxa type 2D2 tests
  • Autosomal recessive cutis laxa type 3B1 test
  • Autosomal recessive cutis laxa type IA2 tests
  • Autosomal recessive DOPA responsive dystonia11 tests
  • Autosomal recessive hypophosphatemic bone disease2 tests
  • Autosomal recessive Kenny-Caffey syndrome2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2B7 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2D6 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2E4 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2F7 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2G9 tests
  • Autosomal recessive omodysplasia2 tests
  • Autosomal recessive osteopetrosis 14 tests
  • Autosomal recessive osteopetrosis 22 tests
  • Autosomal recessive osteopetrosis 43 tests
  • Autosomal recessive osteopetrosis 73 tests
  • Autosomal recessive polycystic kidney disease2 tests
  • Avascular necrosis of femoral head, primary, 14 tests
  • Avascular necrosis of femoral head, primary, 25 tests
  • Axenfeld-Rieger syndrome type 13 tests
  • Axenfeld-Rieger syndrome type 36 tests
  • Axial spondylometaphyseal dysplasia3 tests
  • Ayme-gripp syndrome2 tests
  • B-cell expansion with NFKB and T-cell anergy4 tests
  • B4GALT1-CDG2 tests
  • Bailey-Bloch congenital myopathy5 tests
  • Baller-Gerold syndrome3 tests
  • Bannayan-Riley-Ruvalcaba syndrome12 tests
  • Baraitser-Winter syndrome 16 tests
  • Baraitser-Winter Syndrome 23 tests
  • Barber-Say syndrome1 test
  • Bardet-Biedl syndrome5 tests
  • Bardet-Biedl syndrome 16 tests
  • Bardet-Biedl syndrome 106 tests
  • Bardet-Biedl syndrome 1110 tests
  • Bardet-Biedl syndrome 126 tests
  • Bardet-Biedl syndrome 137 tests
  • Bardet-Biedl syndrome 149 tests
  • Bardet-Biedl syndrome 156 tests
  • Bardet-Biedl syndrome 167 tests
  • Bardet-Biedl syndrome 173 tests
  • Bardet-Biedl syndrome 183 tests
  • Bardet-Biedl syndrome 193 tests
  • Bardet-Biedl syndrome 26 tests
  • Bardet-Biedl syndrome 203 tests
  • Bardet-Biedl syndrome 213 tests
  • Bardet-Biedl syndrome 36 tests
  • Bardet-Biedl syndrome 46 tests
  • Bardet-Biedl syndrome 56 tests
  • Bardet-Biedl syndrome 63 tests
  • Bardet-Biedl syndrome 76 tests
  • Bardet-Biedl syndrome 86 tests
  • Bardet-Biedl syndrome 96 tests
  • Bare lymphocyte syndrome 24 tests
  • Bare lymphocyte syndrome type 13 tests
  • Barrett esophagus1 test
  • Bartter disease type 4a5 tests
  • Bartter syndrome type 33 tests
  • Bartter syndrome, type 1, antenatal3 tests
  • Bartter syndrome, type 2, antenatal1 test
  • Bartter syndrome, type 4b3 tests
  • Basal cell carcinoma, susceptibility to, 18 tests
  • Basal cell carcinoma, susceptibility to, 71 test
  • Basal ganglia calcification, idiopathic, 41 test
  • Basal ganglia calcification, idiopathic, 62 tests
  • Basal laminar drusen2 tests
  • Basel-Vanagaite-Smirin-Yosef syndrome2 tests
  • Beare-Stevenson cutis gyrata syndrome3 tests
  • Becker muscular dystrophy10 tests
  • Beckwith-Wiedemann syndrome12 tests
  • Benign familial hematuria3 tests
  • Benign familial neonatal seizures 11 test
  • Benign familial neonatal seizures 21 test
  • Benign hereditary chorea2 tests
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy13 tests
  • Bent bone dysplasia syndrome2 tests
  • Bernard-Soulier syndrome, type A2, autosomal dominant2 tests
  • Bestrophinopathy, autosomal recessive1 test
  • beta Thalassemia5 tests
  • Beta-D-mannosidosis4 tests
  • Beta-hydroxyisobutyryl-CoA deacylase deficiency6 tests
  • Bethlem myopathy 16 tests
  • Bethlem myopathy 26 tests
  • BH4-deficient hyperphenylalaninemia A7 tests
  • Bietti crystalline corneoretinal dystrophy1 test
  • Bifunctional peroxisomal enzyme deficiency7 tests
  • Bilateral right-sidedness sequence2 tests
  • Bile acid synthesis defect, congenital, 34 tests
  • Bile acid synthesis defect, congenital, 51 test
  • Bile acid synthesis defect, congenital, 61 test
  • Bilirubin, serum level of, quantitative trait locus 11 test
  • Biotin-responsive basal ganglia disease7 tests
  • Biotin-Responsive Multiple Carboxylase Deficiencies2 tests
  • Biotinidase deficiency13 tests
  • Bladder carcinoma2 tests
  • Blau syndrome5 tests
  • Blepharophimosis - intellectual disability syndrome, SBBYS type1 test
  • BLOOD GROUP--DIEGO SYSTEM2 tests
  • BLOOD GROUP--FROESE2 tests
  • BLOOD GROUP--LUTHERAN INHIBITOR1 test
  • BLOOD GROUP--SWANN SYSTEM2 tests
  • BLOOD GROUP--WALDNER TYPE2 tests
  • BLOOD GROUP--WRIGHT ANTIGEN2 tests
  • Bloom syndrome10 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 191 test
  • BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 201 test
  • Body mass index quantitative trait locus 41 test
  • Body mass index quantitative trait locus 91 test
  • Bohring-Opitz syndrome2 tests
  • Bone marrow failure syndrome 13 tests
  • Bone marrow failure syndrome 22 tests
  • Bone marrow failure syndrome 32 tests
  • Bone marrow failure syndrome 43 tests
  • Bone mineral density quantitative trait locus 13 tests
  • Bone mineral density quantitative trait locus 161 test
  • Bone mineral density quantitative trait locus 181 test
  • Bone osteosarcoma3 tests
  • Boomerang dysplasia1 test
  • Borjeson-Forssman-Lehmann syndrome3 tests
  • Bosch-Boonstra-Schaaf optic atrophy syndrome2 tests
  • Bothnia retinal dystrophy1 test
  • Brachydactyly type A12 tests
  • Brachydactyly type A23 tests
  • Brachydactyly type B12 tests
  • Brachydactyly type B22 tests
  • Brachydactyly type C2 tests
  • Brachydactyly type D1 test
  • Brachydactyly type E11 test
  • Brachydactyly type E22 tests
  • Brachydactyly, type a1, c2 tests
  • Brachydactyly, type a1, d3 tests
  • Brachydactyly-arterial hypertension syndrome1 test
  • Brachydactyly-syndactyly syndrome1 test
  • Brachyrachia (short spine dysplasia)5 tests
  • Bradyopsia1 test
  • Brain abnormalities, neurodegeneration, and dysosteosclerosis3 tests
  • Brain dopamine-serotonin vesicular transport disease1 test
  • Brain malformations and urinary tract defects1 test
  • Brain small vessel disease 1 with or without ocular anomalies8 tests
  • Branched-chain keto acid dehydrogenase kinase deficiency2 tests
  • Branchiooculofacial syndrome1 test
  • Branchiootic syndrome 11 test
  • Branchiootic syndrome 31 test
  • Branchiootorenal Syndrome 11 test
  • Branchiootorenal syndrome 21 test
  • Breast and/or ovarian cancer2 tests
  • Breast cancer, early-onset8 tests
  • Breast cancer, familial male3 tests
  • Breast cancer, lobular8 tests
  • Breast cancer, susceptibility to11 tests
  • Breast neoplasm14 tests
  • Breast-ovarian cancer, familial 112 tests
  • Breast-ovarian cancer, familial 213 tests
  • Breast-ovarian cancer, familial 34 tests
  • Breast-ovarian cancer, familial 42 tests
  • Brittle cornea syndrome 11 test
  • Brody myopathy3 tests
  • Bronchiectasis with or without elevated sweat chloride 13 tests
  • Brown-Vialetto-Van Laere syndrome 19 tests
  • Brown-Vialetto-Van Laere syndrome 29 tests
  • Bruck syndrome 11 test
  • Bruck syndrome 21 test
  • Brugada syndrome1 test
  • Brugada syndrome 17 tests
  • Brugada syndrome 21 test
  • Brugada syndrome 37 tests
  • Brugada syndrome 41 test
  • Brugada syndrome 51 test
  • Brugada syndrome 85 tests
  • Brunner syndrome4 tests
  • C1q deficiency1 test
  • Café-au-lait macules with pulmonary stenosis4 tests
  • Calcium oxalate urolithiasis1 test
  • Camptodactyly-tall stature-scoliosis-hearing loss syndrome3 tests
  • Camptomelic dysplasia5 tests
  • Camptosynpolydactyly, complex1 test
  • Cancer of cervix3 tests
  • Candidiasis, familial, 22 tests
  • Candidiasis, familial, 62 tests
  • Candidiasis, familial, 82 tests
  • Candidiasis, familial, 92 tests
  • Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth3 tests
  • Capillary malformation-arteriovenous malformation 14 tests
  • Capillary malformation-arteriovenous malformation 21 test
  • CARASIL syndrome3 tests
  • Carbonic anhydrase VA deficiency, hyperammonemia due to7 tests
  • Carcinoid tumor of intestine5 tests
  • Carcinoma of colon12 tests
  • Carcinoma of pancreas14 tests
  • Cardiac arrhythmia4 tests
  • Cardiac arrhythmia, ankyrin B-related1 test
  • Cardiac conduction disease with or without dilated cardiomyopathy3 tests
  • Cardiac valvular defect, developmental1 test
  • Cardiac valvular dysplasia, X-linked6 tests
  • Cardio-facio-cutaneous syndrome1 test
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency5 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 22 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 31 test
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 41 test
  • Cardiofaciocutaneous syndrome 14 tests
  • Cardiofaciocutaneous syndrome 25 tests
  • Cardiofaciocutaneous syndrome 35 tests
  • Cardiofaciocutaneous syndrome 45 tests
  • Cardiomyopathy3 tests
  • Cardiomyopathy, dilated, 1NN5 tests
  • Cardiomyopathy, dilated, 1u2 tests
  • Cardiomyopathy, dilated, 2c3 tests
  • Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis6 tests
  • Cardiomyopathy, familial hypertrophic 274 tests
  • Cardiomyopathy, familial hypertrophic, 269 tests
  • Cardiospondylocarpofacial syndrome1 test
  • Carney complex6 tests
  • Carney complex, type 19 tests
  • Carney-Stratakis syndrome9 tests
  • Carnitine acylcarnitine translocase deficiency7 tests
  • Carnitine palmitoyltransferase 1A deficiency9 tests
  • Carnitine palmitoyltransferase II deficiency3 tests
  • Carnitine palmitoyltransferase II deficiency, infantile13 tests
  • Carnitine palmitoyltransferase II deficiency, lethal neonatal13 tests
  • Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced13 tests
  • Carotid intimal medial thickness 12 tests
  • Carpenter syndrome 16 tests
  • Carpenter syndrome 24 tests
  • Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders3 tests
  • Carvedilol response1 test
  • Cataract1 test
  • Cataract 11 test
  • Cataract 112 tests
  • Cataract 12, multiple types1 test
  • Cataract 13 with adult i phenotype1 test
  • Cataract 15, multiple types1 test
  • Cataract 16, multiple types6 tests
  • Cataract 181 test
  • Cataract 2, multiple types1 test
  • Cataract 20 multiple types1 test
  • Cataract 21, multiple types2 tests
  • Cataract 33, multiple types1 test
  • Cataract 34, multiple types2 tests
  • Cataract 41 test
  • Cataract 401 test
  • Cataract 415 tests
  • Cataract 5 multiple types1 test
  • Cataract 9, multiple types1 test
  • Cataract, autosomal recessive congenital 53 tests
  • Cataract, congenital nuclear, autosomal recessive 21 test
  • Cataract, congenital nuclear, autosomal recessive 31 test
  • Cataract, congenital zonular, with sutural opacities1 test
  • Cataract-intellectual disability-hypogonadism syndrome2 tests
  • Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia2 tests
  • Catecholaminergic polymorphic ventricular tachycardia1 test
  • Catecholaminergic polymorphic ventricular tachycardia type 16 tests
  • Catel Manzke syndrome3 tests
  • CCDC115-CDG3 tests
  • CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy3 tests
  • Cd8 deficiency, familial3 tests
  • CDC73-Related Disorders3 tests
  • CEDNIK syndrome1 test
  • Celecoxib response1 test
  • Celiac disease1 test
  • Celiac disease 37 tests
  • Cenani-Lenz syndactyly syndrome2 tests
  • Central core myopathy6 tests
  • Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant3 tests
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 11 test
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 42 tests
  • Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome5 tests
  • Cerebellar atrophy with seizures and variable developmental delay1 test
  • Cerebellar atrophy, developmental delay, and seizures3 tests
  • Cerebellar atrophy, visual impairment, and psychomotor retardation3 tests
  • Cerebral amyloid angiopathy, APP-related5 tests
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 23 tests
  • Cerebral arteriovenous malformation3 tests
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 12 tests
  • Cerebral cavernous malformation2 tests
  • Cerebral cavernous malformations 11 test
  • Cerebral cavernous malformations 22 tests
  • Cerebral cavernous malformations 32 tests
  • Cerebral creatine deficiency syndrome1 test
  • Cerebral folate transport deficiency6 tests
  • Cerebral palsy1 test
  • Cerebral palsy, spastic quadriplegic, 13 tests
  • Cerebral palsy, spastic quadriplegic, 21 test
  • Cerebral palsy, spastic quadriplegic, 32 tests
  • Cerebro-costo-mandibular syndrome2 tests
  • Cerebrooculofacioskeletal syndrome 11 test
  • Cerebrooculofacioskeletal syndrome 22 tests
  • Cerebroretinal microangiopathy with calcifications and cysts 16 tests
  • Cerebroretinal microangiopathy with calcifications and cysts 23 tests
  • Ceroid lipofuscinosis neuronal 25 tests
  • Ceroid lipofuscinosis, neuronal, 115 tests
  • Ceroid lipofuscinosis, neuronal, 131 test
  • Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant6 tests
  • Char syndrome1 test
  • Charcot-Marie-Tooth disease2 tests
  • Charcot-Marie-Tooth disease and deafness4 tests
  • Charcot-Marie-Tooth disease axonal type 2C6 tests
  • Charcot-Marie-Tooth disease axonal type 2F3 tests
  • Charcot-Marie-Tooth disease axonal type 2K4 tests
  • Charcot-Marie-Tooth disease dominant intermediate d3 tests
  • Charcot-Marie-Tooth disease type 2B2 tests
  • Charcot-Marie-Tooth disease type 2B113 tests
  • Charcot-Marie-Tooth disease type 2B24 tests
  • Charcot-Marie-Tooth disease type 2E2 tests
  • Charcot-Marie-Tooth disease type 2I3 tests
  • Charcot-Marie-Tooth disease type 2J3 tests
  • Charcot-Marie-Tooth disease type 2P2 tests
  • Charcot-Marie-Tooth disease, axonal type 2V7 tests
  • Charcot-Marie-Tooth disease, axonal type 2X7 tests
  • Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B4 tests
  • Charcot-Marie-Tooth disease, axonal, type 2CC2 tests
  • Charcot-marie-tooth disease, axonal, type 2DD2 tests
  • Charcot-Marie-Tooth disease, axonal, type 2EE4 tests
  • Charcot-Marie-Tooth disease, axonal, type 2O5 tests
  • Charcot-Marie-Tooth disease, axonal, type 2Q3 tests
  • Charcot-Marie-Tooth disease, axonal, type 2R2 tests
  • Charcot-Marie-Tooth disease, axonal, type 2S3 tests
  • Charcot-Marie-Tooth disease, axonal, type 2T2 tests
  • Charcot-Marie-Tooth disease, axonal, type 2y5 tests
  • Charcot-Marie-Tooth disease, axonal, type 2z3 tests
  • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive4 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 1b3 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 1d3 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 1f2 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 1G2 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 4F2 tests
  • Charcot-Marie-Tooth disease, dominant intermediate B6 tests
  • Charcot-Marie-Tooth disease, dominant intermediate E4 tests
  • Charcot-Marie-Tooth disease, dominant intermediate F2 tests
  • Charcot-Marie-Tooth disease, dominant intermediate G2 tests
  • Charcot-Marie-Tooth disease, recessive intermediate A4 tests
  • Charcot-Marie-Tooth disease, recessive intermediate c3 tests
  • Charcot-Marie-Tooth disease, recessive intermediate d3 tests
  • Charcot-Marie-Tooth disease, type 1C2 tests
  • Charcot-Marie-Tooth disease, type 2A2A4 tests
  • Charcot-Marie-Tooth disease, type 2L3 tests
  • Charcot-Marie-Tooth disease, type 4A4 tests
  • Charcot-Marie-Tooth disease, type 4B12 tests
  • Charcot-Marie-Tooth disease, type 4B22 tests
  • Charcot-Marie-Tooth disease, type 4B32 tests
  • Charcot-Marie-Tooth disease, type 4C4 tests
  • Charcot-Marie-Tooth disease, type 4D4 tests
  • Charcot-Marie-Tooth disease, type 4H3 tests
  • Charcot-Marie-Tooth disease, type 4J7 tests
  • Charcot-Marie-Tooth disease, type 4k5 tests
  • Charcot-Marie-Tooth disease, type IA4 tests
  • Charcot-Marie-Tooth disease, X-linked dominant, 64 tests
  • Charcot-Marie-Tooth disease, X-linked recessive, type 58 tests
  • Charcot-Marie-Tooth Neuropathy X Type 14 tests
  • CHARGE association7 tests
  • Charlevoix-Saguenay spastic ataxia4 tests
  • Chilblain lupus 111 tests
  • Chilblain lupus 28 tests
  • Child syndrome2 tests
  • Childhood hypophosphatasia2 tests
  • Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia4 tests
  • CHIME syndrome2 tests
  • Cholestanol storage disease17 tests
  • Cholestasis, intrahepatic, of pregnancy 31 test
  • Cholestasis, progressive familial intrahepatic, 51 test
  • Cholesterol monooxygenase (side-chain cleaving) deficiency3 tests
  • Chondrocalcinosis 21 test
  • Chondrodysplasia Blomstrand type1 test
  • Chondrodysplasia punctata 2 X-linked dominant2 tests
  • Chondrodysplasia with joint dislocations, GPAPP type1 test
  • Chondrosarcoma5 tests
  • Chops syndrome4 tests
  • Chorea, childhood-onset, with psychomotor retardation1 test
  • Choreoacanthocytosis4 tests
  • Choreoathetosis, hypothyroidism, and neonatal respiratory distress2 tests
  • Choroidal dystrophy, central areolar 11 test
  • Choroidal dystrophy, central areolar 21 test
  • Choroideremia2 tests
  • Christianson syndrome2 tests
  • Chromosome 11, deletion 11p7 tests
  • Chromosome 11, partial trisomy 11q7 tests
  • Chromosome 11;14 translocation1 test
  • Chromosome 11p, partial deletion7 tests
  • Chromosome 11q trisomy7 tests
  • Chromosome 13q deletion7 tests
  • Chromosome 13q trisomy7 tests
  • Chromosome 14 deletion7 tests
  • Chromosome 14 trisomy7 tests
  • Chromosome 14;16 translocation1 test
  • Chromosome 15q, partial deletion7 tests
  • Chromosome 15q, tetrasomy7 tests
  • Chromosome 15q11.2 deletion syndrome1 test
  • Chromosome 16 trisomy7 tests
  • Chromosome 17p deletion7 tests
  • Chromosome 1p36 deletion syndrome1 test
  • Chromosome 1q deletion7 tests
  • Chromosome 2, monosomy 2p221 test
  • Chromosome 22q deletion7 tests
  • Chromosome 2q32-q33 deletion syndrome2 tests
  • Chromosome 3, monosomy 3p1 test
  • Chromosome 3, monosomy 3p14 p117 tests
  • Chromosome 4 short arm deletion8 tests
  • Chromosome 4, Trisomy 4p8 tests
  • Chromosome 5, trisomy 5p7 tests
  • Chromosome 7, monosomy8 tests
  • Chromosome 8, monosomy 8p8 tests
  • Chromosome 9 translocation1 test
  • Chromosome 9, trisomy 9p8 tests
  • Chromosome 9, trisomy 9q8 tests
  • Chromosome 9p deletion syndrome8 tests
  • Chromosome Xq26.3 duplication syndrome1 test
  • Chromosome Xq28 deletion syndrome3 tests
  • Chromosome Xq28 duplication syndrome2 tests
  • Chronic granulomatous disease4 tests
  • Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 27 tests
  • Chronic granulomatous disease, X-linked7 tests
  • Chronic infantile neurological, cutaneous and articular syndrome5 tests
  • Chronic obstructive pulmonary disease1 test
  • Chudley-McCullough syndrome2 tests
  • Chylomicron retention disease6 tests
  • Chédiak-Higashi syndrome5 tests
  • Ciliary dyskinesia, primary, 104 tests
  • Ciliary dyskinesia, primary, 114 tests
  • Ciliary dyskinesia, primary, 124 tests
  • Ciliary dyskinesia, primary, 134 tests
  • Ciliary dyskinesia, primary, 144 tests
  • Ciliary dyskinesia, primary, 154 tests
  • Ciliary dyskinesia, primary, 164 tests
  • Ciliary dyskinesia, primary, 174 tests
  • Ciliary dyskinesia, primary, 184 tests
  • Ciliary dyskinesia, primary, 194 tests
  • Ciliary dyskinesia, primary, 24 tests
  • Ciliary dyskinesia, primary, 203 tests
  • Ciliary dyskinesia, primary, 214 tests
  • Ciliary dyskinesia, primary, 224 tests
  • Ciliary dyskinesia, primary, 264 tests
  • Ciliary dyskinesia, primary, 274 tests
  • Ciliary dyskinesia, primary, 284 tests
  • Ciliary dyskinesia, primary, 294 tests
  • Ciliary dyskinesia, primary, 34 tests
  • Ciliary dyskinesia, primary, 303 tests
  • Ciliary dyskinesia, primary, 324 tests
  • Ciliary dyskinesia, primary, 334 tests
  • Ciliary dyskinesia, primary, 342 tests
  • Ciliary dyskinesia, primary, 372 tests
  • Ciliary dyskinesia, primary, 392 tests
  • Ciliary dyskinesia, primary, 402 tests
  • Ciliary dyskinesia, primary, 422 tests
  • Ciliary dyskinesia, primary, 63 tests
  • Ciliary dyskinesia, primary, 74 tests
  • Ciliary dyskinesia, primary, 94 tests
  • Citalopram response2 tests
  • Citrin deficiency2 tests
  • Citrullinemia1 test
  • Citrullinemia type I11 tests
  • Citrullinemia type II4 tests
  • Citrullinemia, adult-onset type II9 tests
  • CK syndrome2 tests
  • Classic homocystinuria10 tests
  • Cleft lip/palate-ectodermal dysplasia syndrome1 test
  • Cleft palate, cardiac defects, and mental retardation2 tests
  • Cleidocranial dysostosis2 tests
  • Clopidogrel response1 test
  • Clozapine response1 test
  • Clubfoot1 test
  • Cobalamin C disease12 tests
  • Cockayne syndrome B1 test
  • Cockayne syndrome type A3 tests
  • Cocoon syndrome2 tests
  • CODAS syndrome4 tests
  • Codeine response1 test
  • Coenzyme Q10 deficiency, primary1 test
  • Coenzyme Q10 deficiency, primary 15 tests
  • Coenzyme Q10 deficiency, primary, 23 tests
  • Coenzyme Q10 deficiency, primary, 35 tests
  • Coenzyme Q10 deficiency, primary, 46 tests
  • Coenzyme Q10 deficiency, primary, 56 tests
  • Coenzyme Q10 deficiency, primary, 64 tests
  • Coenzyme Q10 deficiency, primary, 74 tests
  • Coenzyme Q10 deficiency, primary, 85 tests
  • Coffin-Lowry syndrome5 tests
  • Coffin-Siris syndrome 12 tests
  • Coffin-Siris syndrome 52 tests
  • Coffin-Siris syndrome 72 tests
  • COG1 congenital disorder of glycosylation3 tests
  • COG7 congenital disorder of glycosylation3 tests
  • Cognitive impairment with or without cerebellar ataxia3 tests
  • Cohen syndrome11 tests
  • Cohen-Gibson syndrome1 test
  • Cole-Carpenter syndrome 11 test
  • Cole-Carpenter syndrome 23 tests
  • Coloboma of optic nerve (disease)3 tests
  • Coloboma, ocular, autosomal dominant2 tests
  • Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome1 test
  • Colorectal cancer13 tests
  • Colorectal cancer 105 tests
  • Colorectal cancer, susceptibility to, 125 tests
  • Colton Blood group system1 test
  • Combined cellular and humoral immune defects with granulomas7 tests
  • Combined deficiency of sialidase AND beta galactosidase5 tests
  • Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia5 tests
  • Combined immunodeficiency due to GINS1 deficiency2 tests
  • Combined immunodeficiency due to ORAI1 deficiency6 tests
  • Combined immunodeficiency due to STIM1 deficiency8 tests
  • Combined immunodeficiency due to ZAP70 deficiency6 tests
  • Combined immunodeficiency, X-linked7 tests
  • Combined malonic and methylmalonic aciduria8 tests
  • Combined oxidative phosphorylation deficiency2 tests
  • Combined oxidative phosphorylation deficiency 12 tests
  • Combined oxidative phosphorylation deficiency 104 tests
  • Combined oxidative phosphorylation deficiency 113 tests
  • Combined oxidative phosphorylation deficiency 122 tests
  • Combined oxidative phosphorylation deficiency 134 tests
  • Combined oxidative phosphorylation deficiency 145 tests
  • Combined oxidative phosphorylation deficiency 152 tests
  • Combined oxidative phosphorylation deficiency 162 tests
  • Combined oxidative phosphorylation deficiency 174 tests
  • Combined oxidative phosphorylation deficiency 181 test
  • Combined oxidative phosphorylation deficiency 192 tests
  • Combined oxidative phosphorylation deficiency 22 tests
  • Combined oxidative phosphorylation deficiency 202 tests
  • Combined oxidative phosphorylation deficiency 212 tests
  • Combined oxidative phosphorylation deficiency 232 tests
  • Combined oxidative phosphorylation deficiency 242 tests
  • Combined oxidative phosphorylation deficiency 252 tests
  • Combined oxidative phosphorylation deficiency 262 tests
  • Combined oxidative phosphorylation deficiency 274 tests
  • Combined oxidative phosphorylation deficiency 281 test
  • Combined oxidative phosphorylation deficiency 291 test
  • Combined oxidative phosphorylation deficiency 33 tests
  • Combined oxidative phosphorylation deficiency 301 test
  • Combined oxidative phosphorylation deficiency 311 test
  • Combined oxidative phosphorylation deficiency 321 test
  • Combined oxidative phosphorylation deficiency 331 test
  • Combined oxidative phosphorylation deficiency 341 test
  • Combined oxidative phosphorylation deficiency 351 test
  • Combined oxidative phosphorylation deficiency 361 test
  • Combined oxidative phosphorylation deficiency 381 test
  • Combined oxidative phosphorylation deficiency 392 tests
  • Combined oxidative phosphorylation deficiency 43 tests
  • Combined oxidative phosphorylation deficiency 401 test
  • Combined oxidative phosphorylation deficiency 442 tests
  • Combined oxidative phosphorylation deficiency 451 test
  • Combined oxidative phosphorylation deficiency 461 test
  • Combined oxidative phosphorylation deficiency 481 test
  • Combined oxidative phosphorylation deficiency 52 tests
  • Combined oxidative phosphorylation deficiency 66 tests
  • Combined oxidative phosphorylation deficiency 73 tests
  • Combined oxidative phosphorylation deficiency 82 tests
  • Combined oxidative phosphorylation deficiency 91 test
  • Combined saposin deficiency7 tests
  • Combined T and B cell immunodeficiency1 test
  • Common variable immunodeficiency 17 tests
  • Common variable immunodeficiency 104 tests
  • Common variable immunodeficiency 117 tests
  • Common variable immunodeficiency 28 tests
  • Common variable immunodeficiency 33 tests
  • Common variable immunodeficiency 44 tests
  • Common variable immunodeficiency 52 tests
  • Common variable immunodeficiency 63 tests
  • Common variable immunodeficiency 74 tests
  • Common variable immunodeficiency 8, with autoimmunity7 tests
  • Complement component 2 deficiency1 test
  • Complement component 3 deficiency, autosomal recessive2 tests
  • Complement component 4, partial deficiency of2 tests
  • Complement component 5 deficiency1 test
  • Complement component 6 deficiency1 test
  • Complement component 7 deficiency1 test
  • Complement component 9 deficiency1 test
  • Complement component c1s deficiency1 test
  • Complement factor B deficiency2 tests
  • Complement factor d deficiency1 test
  • Complete trisomy 13 syndrome4 tests
  • Complete trisomy 18 syndrome12 tests
  • Complete trisomy 20 syndrome8 tests
  • Complete trisomy 21 syndrome13 tests
  • Cone dystrophy 31 test
  • Cone dystrophy 41 test
  • Cone dystrophy with supernormal rod response1 test
  • Cone-rod dystrophy 101 test
  • Cone-rod dystrophy 111 test
  • Cone-rod dystrophy 121 test
  • Cone-rod dystrophy 131 test
  • Cone-rod dystrophy 151 test
  • Cone-rod dystrophy 163 tests
  • Cone-rod dystrophy 181 test
  • Cone-rod dystrophy 191 test
  • Cone-rod dystrophy 21 test
  • Cone-rod dystrophy 201 test
  • Cone-rod dystrophy 211 test
  • Cone-rod dystrophy 31 test
  • Cone-rod dystrophy 51 test
  • Cone-rod dystrophy 61 test
  • Cone-rod dystrophy 71 test
  • Cone-rod dystrophy 91 test
  • Cone-rod dystrophy and hearing loss 12 tests
  • Cone-rod dystrophy and hearing loss 23 tests
  • Cone-rod dystrophy, X-linked 14 tests
  • Congenital absence of salivary gland1 test
  • Congenital adrenal hyperplasia2 tests
  • Congenital adrenal hypoplasia, X-linked3 tests
  • Congenital amegakaryocytic thrombocytopenia4 tests
  • Congenital bilateral aplasia of vas deferens from CFTR mutation5 tests
  • Congenital bile acid synthesis defect 11 test
  • Congenital bile acid synthesis defect 47 tests
  • Congenital brain dysgenesis due to glutamine synthetase deficiency4 tests
  • Congenital cataract1 test
  • Congenital cataracts, hearing loss, and neurodegeneration3 tests
  • Congenital cataracts-facial dysmorphism-neuropathy syndrome3 tests
  • Congenital central hypoventilation1 test
  • Congenital chromosomal disease8 tests
  • Congenital contractural arachnodactyly1 test
  • Congenital defect of folate absorption6 tests
  • Congenital disorder of deglycosylation8 tests
  • Congenital disorder of glycosylation7 tests
  • Congenital disorder of glycosylation type 1C6 tests
  • Congenital disorder of glycosylation type 1E6 tests
  • Congenital disorder of glycosylation type 1M6 tests
  • Congenital disorder of glycosylation type 1N3 tests
  • Congenital disorder of glycosylation type 1O6 tests
  • Congenital disorder of glycosylation type 1P2 tests
  • Congenital disorder of glycosylation type 1Q3 tests
  • Congenital disorder of glycosylation type 1t7 tests
  • Congenital disorder of glycosylation type 1u6 tests
  • Congenital disorder of glycosylation type 1w2 tests
  • Congenital disorder of glycosylation type 1x2 tests
  • Congenital disorder of glycosylation type 1y3 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 2i3 tests
  • Congenital disorder of glycosylation type 2J2 tests
  • Congenital disorder of glycosylation type 2k5 tests
  • Congenital disorder of glycosylation type 2L2 tests
  • Congenital disorder of glycosylation type Ir3 tests
  • Congenital disorder of glycosylation with defective fucosylation 12 tests
  • Congenital disorder of glycosylation, type Ia7 tests
  • Congenital disorder of glycosylation, type Iaa3 tests
  • Congenital disorder of glycosylation, type ICC7 tests
  • Congenital disorder of glycosylation, type IIa2 tests
  • Congenital disorder of glycosylation, type IIq2 tests
  • Congenital disorder of glycosylation, type IIr5 tests
  • Congenital dyserythropoietic anemia, type II3 tests
  • Congenital dyserythropoietic anemia, type IV1 test
  • Congenital erythropoietic porphyria2 tests
  • Congenital generalized lipodystrophy type 26 tests
  • Congenital glucose-galactose malabsorption3 tests
  • Congenital heart block1 test
  • Congenital heart defects1 test
  • Congenital heart defects, hamartomas of tongue, and polysyndactyly4 tests
  • Congenital heart defects, multiple types, 22 tests
  • Congenital heart defects, multiple types, 42 tests
  • Congenital heart defects, multiple types, 53 tests
  • Congenital heart disease3 tests
  • Congenital hepatic fibrosis1 test
  • Congenital hereditary endothelial dystrophy of the cornea1 test
  • Congenital hyperammonemia, type I13 tests
  • Congenital hypomyelinating neuropathy 1, autosomal recessive3 tests
  • Congenital hypomyelinating neuropathy 23 tests
  • Congenital hypomyelinating neuropathy 31 test
  • Congenital hypotrichosis with juvenile macular dystrophy2 tests
  • Congenital lactase deficiency2 tests
  • Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type4 tests
  • Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi3 tests
  • Congenital long QT syndrome1 test
  • Congenital macrodactylia3 tests
  • Congenital microvillous atrophy2 tests
  • Congenital muscular dystrophy, LMNA-related13 tests
  • Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B512 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A512 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A29 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A412 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A68 tests
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B19 tests
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B29 tests
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B310 tests
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B68 tests
  • Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B412 tests
  • Congenital muscular hypertrophy-cerebral syndrome4 tests
  • Congenital myasthenic syndrome3 tests
  • Congenital myasthenic syndrome 124 tests
  • Congenital myasthenic syndrome 134 tests
  • Congenital myasthenic syndrome 1A1 test
  • Congenital myasthenic syndrome 1B, fast-channel3 tests
  • Congenital myasthenic syndrome 3B2 tests
  • Congenital myasthenic syndrome 4C4 tests
  • Congenital myasthenic syndrome, acetazolamide-responsive7 tests
  • Congenital myopathy with fiber type disproportion10 tests
  • Congenital myotonia, autosomal dominant form3 tests
  • Congenital myotonia, autosomal recessive form3 tests
  • Congenital neutropenia2 tests
  • Congenital primary aphakia3 tests
  • Congenital secretory diarrhea, chloride type2 tests
  • Congenital secretory diarrhea, sodium type2 tests
  • Congenital sensory neuropathy with selective loss of small myelinated fibers2 tests
  • Congenital stationary night blindness, autosomal dominant 11 test
  • Congenital stationary night blindness, autosomal dominant 21 test
  • Congenital stationary night blindness, autosomal dominant 31 test
  • Congenital stationary night blindness, type 1A1 test
  • Congenital stationary night blindness, type 1B1 test
  • Congenital stationary night blindness, type 1C1 test
  • Congenital stationary night blindness, type 1D1 test
  • Congenital stationary night blindness, type 1E1 test
  • Congenital stationary night blindness, type 1F1 test
  • Congenital stationary night blindness, type 2A1 test
  • Congenital stationary night blindness, type 2B1 test
  • Conotruncal heart malformations9 tests
  • CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B1 test
  • Contractures, pterygia, and variable skeletal fusions syndrome 1A1 test
  • COPD, severe early-onset1 test
  • Corneal dystrophy, Fuchs endothelial 11 test
  • Corneal dystrophy, Fuchs endothelial, 32 tests
  • Corneal dystrophy, Fuchs endothelial, 41 test
  • Corneal dystrophy, posterior polymorphous 41 test
  • Corneal dystrophy, posterior polymorphous, 21 test
  • Corneal dystrophy-perceptive deafness syndrome3 tests
  • Cornelia de Lange syndrome 12 tests
  • Cornelia de Lange syndrome 32 tests
  • Cornelia de Lange syndrome 43 tests
  • Cornelia de Lange syndrome 52 tests
  • Coronary artery disease, autosomal dominant 21 test
  • Corpus callosum agenesis-abnormal genitalia syndrome6 tests
  • Corpus callosum, partial agenesis of, X-linked3 tests
  • Cortical dysplasia, complex, with other brain malformations 11 test
  • Cortical dysplasia, complex, with other brain malformations 32 tests
  • Cortical dysplasia, complex, with other brain malformations 41 test
  • Cortical dysplasia, complex, with other brain malformations 53 tests
  • Cortical malformations, occipital2 tests
  • Cortisone reductase deficiency 11 test
  • Costello syndrome8 tests
  • Cowden syndrome10 tests
  • Cowden syndrome 19 tests
  • Cowden syndrome 34 tests
  • Cowden syndrome 53 tests
  • Cowden syndrome 61 test
  • Cowden syndrome 73 tests
  • Coxa plana4 tests
  • Coxopodopatellar syndrome1 test
  • Craniodiaphyseal dysplasia, autosomal dominant1 test
  • Cranioectodermal dysplasia2 tests
  • Cranioectodermal dysplasia 13 tests
  • Cranioectodermal dysplasia 24 tests
  • Cranioectodermal dysplasia 32 tests
  • Cranioectodermal dysplasia 45 tests
  • Craniofacial-deafness-hand syndrome1 test
  • Craniolenticulosutural dysplasia2 tests
  • Craniometaphyseal dysplasia, autosomal dominant2 tests
  • Craniometaphyseal dysplasia, autosomal recessive6 tests
  • Craniosynostosis 11 test
  • Craniosynostosis 22 tests
  • Craniosynostosis 41 test
  • Craniosynostosis 61 test
  • Craniosynostosis 71 test
  • Craniosynostosis syndrome1 test
  • Creatine transporter deficiency10 tests
  • Creutzfeldt-Jakob Disease, Familial4 tests
  • Crigler-Najjar syndrome type 11 test
  • Crigler-Najjar syndrome, type II1 test
  • Cromer blood group system4 tests
  • Crouzon syndrome3 tests
  • Crouzon syndrome with acanthosis nigricans4 tests
  • Cryohydrocytosis2 tests
  • Cryptophthalmos, unilateral or bilateral, isolated2 tests
  • Culler-Jones syndrome2 tests
  • Currarino triad2 tests
  • Curry-Hall syndrome6 tests
  • Cushing syndrome3 tests
  • Cutaneous leiomyoma1 test
  • Cutaneous malignant melanoma 11 test
  • Cutaneous malignant melanoma 24 tests
  • Cutaneous malignant melanoma 32 tests
  • Cutaneous malignant melanoma 82 tests
  • Cutaneous malignant melanoma 95 tests
  • Cutaneous telangiectasia and cancer syndrome, familial1 test
  • Cutis laxa with osteodystrophy3 tests
  • Cutis laxa, autosomal dominant 11 test
  • Cutis laxa, autosomal dominant 22 tests
  • Cutis laxa, autosomal dominant 37 tests
  • Cutis laxa, autosomal recessive IIIA6 tests
  • Cutis laxa, X-linked8 tests
  • Cyclical neutropenia9 tests
  • Cyclosporine response1 test
  • CYP2C19-related poor drug metabolism2 tests
  • Cystic fibrosis16 tests
  • Cystinosis5 tests
  • Cystinuria2 tests
  • Czech dysplasia, metatarsal type4 tests
  • D-2-hydroxyglutaric aciduria 15 tests
  • D-2-hydroxyglutaric aciduria 24 tests
  • D-Glyceric aciduria2 tests
  • Dalmatian hypouricemia1 test
  • Danon disease12 tests
  • De Lange syndrome1 test
  • DE SANCTIS-CACCHIONE SYNDROME3 tests
  • Deafness and myopia1 test
  • Deafness dystonia syndrome4 tests
  • Deafness with labyrinthine aplasia microtia and microdontia (LAMM)1 test
  • Deafness, autosomal dominant 14 tests
  • Deafness, autosomal dominant 104 tests
  • Deafness, autosomal dominant 113 tests
  • Deafness, autosomal dominant 121 test
  • Deafness, autosomal dominant 134 tests
  • Deafness, autosomal dominant 151 test
  • Deafness, autosomal dominant 202 tests
  • Deafness, autosomal dominant 231 test
  • Deafness, autosomal dominant 251 test
  • Deafness, autosomal dominant 281 test
  • Deafness, autosomal dominant 2b1 test
  • Deafness, autosomal dominant 311 test
  • Deafness, autosomal dominant 34, with or without inflammation4 tests
  • Deafness, autosomal dominant 361 test
  • Deafness, autosomal dominant 374 tests
  • Deafness, autosomal dominant 39, with dentinogenesis imperfecta 11 test
  • Deafness, autosomal dominant 3a1 test
  • Deafness, autosomal dominant 3b1 test
  • Deafness, autosomal dominant 41 test
  • Deafness, autosomal dominant 401 test
  • Deafness, autosomal dominant 411 test
  • Deafness, autosomal dominant 441 test
  • Deafness, autosomal dominant 4b1 test
  • Deafness, autosomal dominant 501 test
  • Deafness, autosomal dominant 641 test
  • Deafness, autosomal dominant 654 tests
  • Deafness, autosomal dominant 661 test
  • Deafness, autosomal dominant 671 test
  • Deafness, autosomal dominant 681 test
  • Deafness, autosomal dominant 691 test
  • Deafness, autosomal dominant 701 test
  • Deafness, autosomal dominant 713 tests
  • Deafness, autosomal dominant 721 test
  • Deafness, autosomal dominant 751 test
  • Deafness, autosomal dominant 781 test
  • Deafness, autosomal dominant 91 test
  • Deafness, autosomal recessive 1011 test
  • Deafness, autosomal recessive 1021 test
  • Deafness, autosomal recessive 1031 test
  • Deafness, autosomal recessive 1061 test
  • Deafness, autosomal recessive 1071 test
  • Deafness, autosomal recessive 1081 test
  • Deafness, autosomal recessive 1101 test
  • Deafness, autosomal recessive 1131 test
  • Deafness, autosomal recessive 123 tests
  • Deafness, autosomal recessive 151 test
  • Deafness, autosomal recessive 183 tests
  • Deafness, autosomal recessive 18b1 test
  • Deafness, autosomal recessive 1A1 test
  • Deafness, autosomal recessive 1b1 test
  • Deafness, autosomal recessive 23 tests
  • Deafness, autosomal recessive 211 test
  • Deafness, autosomal recessive 221 test
  • Deafness, autosomal recessive 233 tests
  • Deafness, autosomal recessive 241 test
  • Deafness, autosomal recessive 251 test
  • Deafness, autosomal recessive 281 test
  • Deafness, autosomal recessive 291 test
  • Deafness, autosomal recessive 31 test
  • Deafness, autosomal recessive 301 test
  • Deafness, autosomal recessive 313 tests
  • Deafness, autosomal recessive 321 test
  • Deafness, autosomal recessive 351 test
  • Deafness, autosomal recessive 36, with or without vestibular involvement1 test
  • Deafness, autosomal recessive 371 test
  • Deafness, autosomal recessive 391 test
  • Deafness, autosomal recessive 4, with enlarged vestibular aqueduct6 tests
  • Deafness, autosomal recessive 421 test
  • Deafness, autosomal recessive 441 test
  • Deafness, autosomal recessive 483 tests
  • Deafness, autosomal recessive 491 test
  • Deafness, autosomal recessive 534 tests
  • Deafness, autosomal recessive 573 tests
  • Deafness, autosomal recessive 61 test
  • Deafness, autosomal recessive 611 test
  • Deafness, autosomal recessive 631 test
  • Deafness, autosomal recessive 663 tests
  • Deafness, autosomal recessive 671 test
  • Deafness, autosomal recessive 681 test
  • Deafness, autosomal recessive 71 test
  • Deafness, autosomal recessive 704 tests
  • Deafness, autosomal recessive 741 test
  • Deafness, autosomal recessive 761 test
  • Deafness, autosomal recessive 773 tests
  • Deafness, autosomal recessive 791 test
  • Deafness, autosomal recessive 81 test
  • Deafness, autosomal recessive 84b1 test
  • Deafness, autosomal recessive 864 tests
  • Deafness, autosomal recessive 881 test
  • Deafness, autosomal recessive 91 test
  • Deafness, autosomal recessive 911 test
  • Deafness, autosomal recessive 931 test
  • Deafness, autosomal recessive 942 tests
  • Deafness, autosomal recessive 971 test
  • Deafness, autosomal recessive 981 test
  • Deafness, autosomal recessive 991 test
  • Deafness, congenital heart defects, and posterior embryotoxon5 tests
  • Deafness, X-linked 18 tests
  • Deafness, X-linked 21 test
  • Deafness, X-linked 62 tests
  • Decreased activity of 3-hydroxyacyl-CoA dehydrogenase2 tests
  • Deficiency of 2-methylbutyryl-CoA dehydrogenase5 tests
  • Deficiency of 3-hydroxyacyl-CoA dehydrogenase6 tests
  • Deficiency of acetyl-CoA acetyltransferase11 tests
  • Deficiency of alpha-mannosidase10 tests
  • Deficiency of aromatic-L-amino-acid decarboxylase8 tests
  • Deficiency of beta-ureidopropionase1 test
  • Deficiency of bisphosphoglycerate mutase1 test
  • Deficiency of butyryl-CoA dehydrogenase6 tests
  • Deficiency of cytochrome-b5 reductase1 test
  • Deficiency of ferroxidase8 tests
  • Deficiency of galactokinase6 tests
  • Deficiency of guanidinoacetate methyltransferase10 tests
  • Deficiency of hyaluronoglucosaminidase6 tests
  • Deficiency of hydroxymethylglutaryl-CoA lyase14 tests
  • Deficiency of isobutyryl-CoA dehydrogenase3 tests
  • Deficiency of malonyl-CoA decarboxylase8 tests
  • Deficiency of phosphoserine phosphatase5 tests
  • Deficiency of pyrroline-5-carboxylate reductase4 tests
  • Deficiency of ribose-5-phosphate isomerase1 test
  • Deficiency of steroid 11-beta-monooxygenase3 tests
  • Deficiency of steroid 17-alpha-monooxygenase3 tests
  • Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase8 tests
  • Dehydrated hereditary stomatocytosis 21 test
  • Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema1 test
  • Dejerine-Sottas disease4 tests
  • Delpire-McNeill syndrome1 test
  • Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency11 tests
  • Dent disease1 test
  • Dent disease type 11 test
  • Dent disease type 23 tests
  • Dental anomalies and short stature3 tests
  • Denticles1 test
  • Dentinogenesis imperfecta type 21 test
  • Dentinogenesis imperfecta type 31 test
  • Dermatofibrosis lenticularis disseminata2 tests
  • Desbuquois dysplasia 14 tests
  • Desbuquois dysplasia 23 tests
  • Desmoid disease, hereditary8 tests
  • Desmosterolosis1 test
  • Developmental and epileptic encephalopathy 912 tests
  • Developmental and epileptic encephalopathy 922 tests
  • Developmental and epileptic encephalopathy 941 test
  • Developmental and epileptic encephalopathy, 254 tests
  • Developmental and epileptic encephalopathy, 562 tests
  • Developmental and epileptic encephalopathy, 582 tests
  • Developmental and epileptic encephalopathy, 631 test
  • Developmental and epileptic encephalopathy, 641 test
  • Developmental and epileptic encephalopathy, 651 test
  • Developmental and epileptic encephalopathy, 661 test
  • Developmental and epileptic encephalopathy, 683 tests
  • Developmental and epileptic encephalopathy, 691 test
  • Developmental and epileptic encephalopathy, 731 test
  • Developmental and epileptic encephalopathy, 742 tests
  • Developmental and epileptic encephalopathy, 752 tests
  • Developmental and epileptic encephalopathy, 773 tests
  • Developmental and epileptic encephalopathy, 782 tests
  • Developmental and epileptic encephalopathy, 802 tests
  • Developmental and epileptic encephalopathy, 813 tests
  • Developmental and epileptic encephalopathy, 85, with or without midline brain defects3 tests
  • Developmental delay and seizures with or without movement abnormalities4 tests
  • Developmental delay with or without dysmorphic facies and autism1 test
  • Developmental delay with variable intellectual impairment and behavioral abnormalities1 test
  • Developmental malformations-deafness-dystonia syndrome5 tests
  • Dextromethorphan response1 test
  • Diabetes mellitus type 14 tests
  • Diabetes mellitus, insulin-dependent, 106 tests
  • Diabetes mellitus, insulin-dependent, 127 tests
  • Diabetes mellitus, insulin-dependent, 21 test
  • Diabetes mellitus, insulin-dependent, 203 tests
  • Diabetes mellitus, ketosis-prone1 test
  • Diabetes mellitus, neonatal, with congenital hypothyroidism1 test
  • Diabetes mellitus, permanent neonatal, with cerebellar agenesis2 tests
  • Diamond-Blackfan anemia2 tests
  • Diamond-Blackfan anemia 12 tests
  • Diamond-Blackfan anemia 102 tests
  • Diamond-Blackfan anemia 112 tests
  • Diamond-Blackfan anemia 32 tests
  • Diamond-Blackfan anemia 52 tests
  • Diamond-Blackfan anemia 62 tests
  • Diamond-Blackfan anemia 72 tests
  • Diamond-Blackfan anemia 82 tests
  • Diamond-Blackfan anemia 92 tests
  • Diaphanospondylodysostosis1 test
  • Diaphragmatic hernia 32 tests
  • Diaphyseal dysplasia5 tests
  • Diarrhea 4, malabsorptive, congenital3 tests
  • Diarrhea 62 tests
  • Diarrhea 72 tests
  • Diarrhea 8, secretory sodium, congenital2 tests
  • Diastrophic dysplasia5 tests
  • DICER1-related pleuropulmonary blastoma cancer predisposition syndrome2 tests
  • Diencephalic-mesencephalic junction dysplasia syndrome 12 tests
  • DiGeorge Syndrome7 tests
  • Digital arthropathy-brachydactyly, familial5 tests
  • Digital clubbing, isolated congenital1 test
  • Dihydropteridine reductase deficiency8 tests
  • Dihydropyrimidinase deficiency1 test
  • Dihydropyrimidine dehydrogenase deficiency1 test
  • Dilated cardiomyopathy 1A15 tests
  • Dilated cardiomyopathy 1AA7 tests
  • Dilated cardiomyopathy 1BB7 tests
  • Dilated cardiomyopathy 1C2 tests
  • Dilated cardiomyopathy 1DD6 tests
  • Dilated cardiomyopathy 1E7 tests
  • Dilated cardiomyopathy 1EE1 test
  • Dilated cardiomyopathy 1FF7 tests
  • Dilated cardiomyopathy 1G11 tests
  • Dilated cardiomyopathy 1GG6 tests
  • Dilated cardiomyopathy 1HH11 tests
  • Dilated cardiomyopathy 1I11 tests
  • Dilated cardiomyopathy 1II6 tests
  • Dilated cardiomyopathy 1J5 tests
  • Dilated cardiomyopathy 1KK3 tests
  • Dilated cardiomyopathy 1L8 tests
  • Dilated cardiomyopathy 1M5 tests
  • Dilated cardiomyopathy 1O6 tests
  • Dilated cardiomyopathy 1P7 tests
  • Dilated cardiomyopathy 1R6 tests
  • Dilated cardiomyopathy 1S8 tests
  • Dilated cardiomyopathy 1V1 test
  • Dilated cardiomyopathy 1W5 tests
  • Dilated cardiomyopathy 1X13 tests
  • Dilated cardiomyopathy 1Y5 tests
  • Dilated cardiomyopathy 1Z5 tests
  • Dilated cardiomyopathy 2A8 tests
  • Dilated cardiomyopathy 3B13 tests
  • Dilated cardiomyopathy with woolly hair and keratoderma6 tests
  • Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome13 tests
  • Disorder due cytochrome p450 CYP1A21 test
  • Disorder due cytochrome p450 CYP2C19 variant2 tests
  • Disorder due cytochrome p450 CYP2C9 variant1 test
  • Disorder due cytochrome p450 CYP2D6 variant1 test
  • Disorder due cytochrome p450 CYP3A41 test
  • Disorder due cytochrome p450 CYP3A5 variant1 test
  • Disorder of amino acid metabolism1 test
  • Disorder of fatty acid metabolism10 tests
  • Disorder of organic acid metabolism3 tests
  • Disorder of the urea cycle metabolism6 tests
  • Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency3 tests
  • Distal arthrogryposis type 1A3 tests
  • Distal hereditary motor neuronopathy 2D2 tests
  • Distal hereditary motor neuronopathy type 2A3 tests
  • Distal hereditary motor neuronopathy type 2B3 tests
  • Distal hereditary motor neuronopathy type 56 tests
  • Distal hereditary motor neuronopathy type 5B4 tests
  • Distal hereditary motor neuronopathy type 7B7 tests
  • Distal myopathy with rimmed vacuoles8 tests
  • Distal myopathy, Tateyama type5 tests
  • Distal spinal muscular atrophy, autosomal recessive 22 tests
  • Distal spinal muscular atrophy, autosomal recessive 43 tests
  • Distal spinal muscular atrophy, congenital nonprogressive5 tests
  • Distal spinal muscular atrophy, X-linked 38 tests
  • Distal trisomy 6q8 tests
  • Dominant dystrophic epidermolysis bullosa with absence of skin1 test
  • Donnai-Barrow syndrome4 tests
  • DOORS syndrome4 tests
  • Dopa-responsive dystonia due to sepiapterin reductase deficiency10 tests
  • Double Y syndrome2 tests
  • Dowling-Degos disease 22 tests
  • Dowling-degos disease 42 tests
  • Doyne honeycomb retinal dystrophy1 test
  • DPAGT1-CDG4 tests
  • Drash syndrome5 tests
  • Duane retraction syndrome 3 with or without deafness1 test
  • Duane-radial ray syndrome1 test
  • Duchenne muscular dystrophy10 tests
  • Duloxetine response1 test
  • Dyggve-Melchior-Clausen syndrome1 test
  • Dyskeratosis congenita8 tests
  • Dyskeratosis congenita autosomal recessive 15 tests
  • Dyskeratosis congenita, autosomal dominant 110 tests
  • Dyskeratosis congenita, autosomal dominant 63 tests
  • Dyskeratosis congenita, autosomal dominant, 210 tests
  • Dyskeratosis congenita, autosomal dominant, 36 tests
  • Dyskeratosis congenita, autosomal recessive 25 tests
  • Dyskeratosis congenita, autosomal recessive 64 tests
  • Dyskeratosis congenita, autosomal recessive, 33 tests
  • Dyskeratosis congenita, autosomal recessive, 57 tests
  • Dyskeratosis congenita, X-linked10 tests
  • Dyskinesia, familial, with facial myokymia2 tests
  • Dyskinesia, limb and orofacial, infantile-onset1 test
  • Dyskinesia, seizures, and intellectual developmental disorder2 tests
  • Dyslexia 12 tests
  • Dystonia 12 tests
  • Dystonia 125 tests
  • Dystonia 163 tests
  • Dystonia 241 test
  • Dystonia 251 test
  • Dystonia 26, myoclonic2 tests
  • Dystonia 276 tests
  • Dystonia 28, childhood-onset1 test
  • Dystonia 511 tests
  • Dystonia 98 tests
  • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities2 tests
  • Dystransthyretinemic euthyroidal hyperthyroxinemia5 tests
  • Dystrophic epidermolysis bullosa1 test
  • Dystrophinopathies1 test
  • Early infantile epileptic encephalopathy 102 tests
  • Early infantile epileptic encephalopathy 112 tests
  • Early infantile epileptic encephalopathy 121 test
  • Early infantile epileptic encephalopathy 134 tests
  • Early infantile epileptic encephalopathy 143 tests
  • Early infantile epileptic encephalopathy 153 tests
  • Early infantile epileptic encephalopathy 164 tests
  • Early infantile epileptic encephalopathy 174 tests
  • Early infantile epileptic encephalopathy 181 test
  • Early infantile epileptic encephalopathy 23 tests
  • Early infantile epileptic encephalopathy 212 tests
  • Early infantile epileptic encephalopathy 341 test
  • Early infantile epileptic encephalopathy 45 tests
  • Early infantile epileptic encephalopathy 52 tests
  • Early infantile epileptic encephalopathy 553 tests
  • Early infantile epileptic encephalopathy 593 tests
  • Early infantile epileptic encephalopathy 622 tests
  • Early infantile epileptic encephalopathy 71 test
  • Early infantile epileptic encephalopathy 86 tests
  • Early infantile epileptic encephalopathy 92 tests
  • Early-onset autosomal dominant Alzheimer disease2 tests
  • Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome2 tests
  • EAST syndrome5 tests
  • Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant1 test
  • Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal1 test
  • Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant1 test
  • Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive1 test
  • Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis1 test
  • Ectodermal dysplasia and immunodeficiency 25 tests
  • Ectodermal dysplasia-syndactyly syndrome 11 test
  • Ectodermal dysplasia/short stature syndrome1 test
  • Ectopia lentis, isolated, autosomal dominant6 tests
  • Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 33 tests
  • Eculizumab, poor response to1 test
  • EEM syndrome2 tests
  • Efavirenz response1 test
  • EGFR-related lung cancer1 test
  • Ehlers-Danlos syndrome classic type 22 tests
  • Ehlers-Danlos syndrome dermatosparaxis type3 tests
  • Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss4 tests
  • Ehlers-Danlos syndrome, arthrochalasia type, 12 tests
  • Ehlers-danlos syndrome, arthrochalasia type, 22 tests
  • Ehlers-Danlos syndrome, cardiac valvular type2 tests
  • Ehlers-Danlos syndrome, classic type I2 tests
  • Ehlers-Danlos syndrome, hydroxylysine-deficient2 tests
  • Ehlers-Danlos syndrome, musculocontractural type1 test
  • Ehlers-Danlos syndrome, musculocontractural type 14 tests
  • Ehlers-Danlos syndrome, musculocontractural type 22 tests
  • Ehlers-Danlos syndrome, periodontal type, 21 test
  • Ehlers-Danlos syndrome, progeroid type, 25 tests
  • Ehlers-Danlos syndrome, spondylodysplastic type, 14 tests
  • Ehlers-Danlos syndrome, type 44 tests
  • Eichsfeld type congenital muscular dystrophy3 tests
  • Eiken syndrome1 test
  • Elevated serum creatine phosphokinase5 tests
  • Elliptocytosis 11 test
  • Elliptocytosis 21 test
  • Elliptocytosis 31 test
  • Ellis-van Creveld syndrome7 tests
  • Emery-Dreifuss muscular dystrophy 1, X-linked9 tests
  • Emery-Dreifuss muscular dystrophy 3, autosomal recessive13 tests
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant1 test
  • Emery-Dreifuss muscular dystrophy 7, autosomal dominant5 tests
  • Encephalocraniocutaneous lipomatosis3 tests
  • Encephalopathy1 test
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 14 tests
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 22 tests
  • Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 82 tests
  • Encephalopathy, acute, infection-induced, 3, suceptibility to4 tests
  • Encephalopathy, acute, infection-induced, 4, susceptibility to12 tests
  • Encephalopathy, familial, with neuroserpin inclusion bodies1 test
  • Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities6 tests
  • Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum1 test
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 13 tests
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 21 test
  • Encephalopathy, progressive, with amyotrophy and optic atrophy1 test
  • Encephalopathy, progressive, with or without lipodystrophy6 tests
  • Endocrine-cerebroosteodysplasia1 test
  • Endometrial carcinoma6 tests
  • Endometrial neoplasm5 tests
  • Endplate acetylcholinesterase deficiency2 tests
  • Enhanced S-cone syndrome3 tests
  • Epidermal nevus11 tests
  • Epidermal nevus syndrome6 tests
  • EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 12 tests
  • Epidermodysplasia verruciformis, susceptibility to, 21 test
  • Epidermodysplasia verruciformis, susceptibility to, 31 test
  • Epidermodysplasia verruciformis, susceptibility to, 42 tests
  • Epidermolysis bullosa1 test
  • Epidermolysis bullosa junctionalis with pyloric atresia3 tests
  • Epidermolysis bullosa pruriginosa1 test
  • Epidermolysis bullosa simplex with muscular dystrophy3 tests
  • Epidermolysis bullosa simplex with nail dystrophy3 tests
  • Epidermolysis bullosa simplex with pyloric atresia3 tests
  • Epidermolysis bullosa simplex, autosomal recessive 22 tests
  • Epidermolysis bullosa simplex, Ogna type3 tests
  • Epilepsy, childhood absence 22 tests
  • Epilepsy, childhood absence 52 tests
  • Epilepsy, childhood absence 62 tests
  • Epilepsy, early-onset, vitamin b6-dependent1 test
  • Epilepsy, familial adult myoclonic, 11 test
  • Epilepsy, familial adult myoclonic, 51 test
  • Epilepsy, familial focal, with variable foci 12 tests
  • Epilepsy, familial focal, with variable foci 33 tests
  • Epilepsy, familial focal, with variable foci 42 tests
  • Epilepsy, familial temporal lobe, 51 test
  • Epilepsy, familial temporal lobe, 72 tests
  • Epilepsy, familial temporal lobe, 81 test
  • Epilepsy, focal, with speech disorder and with or without mental retardation1 test
  • Epilepsy, hearing loss, and mental retardation syndrome2 tests
  • Epilepsy, idiopathic generalized 101 test
  • Epilepsy, idiopathic generalized 85 tests
  • Epilepsy, idiopathic generalized 91 test
  • Epilepsy, idiopathic generalized, susceptibility to, 112 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 128 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 141 test
  • Epilepsy, idiopathic generalized, susceptibility to, 151 test
  • Epilepsy, idiopathic generalized, susceptibility to, 164 tests
  • Epilepsy, juvenile myoclonic 52 tests
  • Epilepsy, nocturnal frontal lobe, 53 tests
  • Epilepsy, nocturnal frontal lobe, type 11 test
  • Epilepsy, nocturnal frontal lobe, type 31 test
  • Epilepsy, nocturnal frontal lobe, type 41 test
  • Epilepsy, progressive myoclonic 35 tests
  • Epilepsy, progressive myoclonic 4, with or without renal failure1 test
  • Epilepsy, progressive myoclonic 67 tests
  • Epilepsy, progressive myoclonic 71 test
  • Epilepsy, progressive myoclonic 82 tests
  • Epilepsy, progressive myoclonic, 101 test
  • Epilepsy, progressive myoclonic, 92 tests
  • Epilepsy, X-linked, with variable learning disabilities and behavior disorders2 tests
  • Epileptic encephalopathy, early infantile, 17 tests
  • Epileptic encephalopathy, early infantile, 192 tests
  • Epileptic encephalopathy, early infantile, 232 tests
  • Epileptic encephalopathy, early infantile, 241 test
  • Epileptic encephalopathy, early infantile, 261 test
  • Epileptic encephalopathy, early infantile, 273 tests
  • Epileptic encephalopathy, early infantile, 283 tests
  • Epileptic encephalopathy, early infantile, 32 tests
  • Epileptic encephalopathy, early infantile, 301 test
  • Epileptic encephalopathy, early infantile, 311 test
  • Epileptic encephalopathy, early infantile, 322 tests
  • Epileptic encephalopathy, early infantile, 331 test
  • Epileptic encephalopathy, early infantile, 353 tests
  • Epileptic encephalopathy, early infantile, 364 tests
  • Epileptic encephalopathy, early infantile, 372 tests
  • Epileptic encephalopathy, early infantile, 401 test
  • Epileptic encephalopathy, early infantile, 413 tests
  • Epileptic encephalopathy, early infantile, 425 tests
  • Epileptic encephalopathy, early infantile, 432 tests
  • Epileptic encephalopathy, early infantile, 441 test
  • Epileptic encephalopathy, early infantile, 452 tests
  • Epileptic encephalopathy, early infantile, 462 tests
  • Epileptic encephalopathy, early infantile, 471 test
  • Epileptic encephalopathy, early infantile, 481 test
  • Epileptic encephalopathy, early infantile, 505 tests
  • Epileptic encephalopathy, early infantile, 511 test
  • Epileptic encephalopathy, early infantile, 521 test
  • Epileptic encephalopathy, early infantile, 532 tests
  • Epileptic encephalopathy, early infantile, 541 test
  • EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 824 tests
  • Epileptic encephalopathy, infantile or early childhood 32 tests
  • Epiphyseal chondrodysplasia, miura type3 tests
  • Epiphyseal dysplasia, multiple, 25 tests
  • Epiphyseal dysplasia, multiple, 35 tests
  • Epiphyseal dysplasia, multiple, 73 tests
  • Epiphyseal dysplasia, multiple, with myopia and conductive deafness4 tests
  • Episodic ataxia type 14 tests
  • Episodic ataxia type 25 tests
  • Episodic ataxia type 92 tests
  • Episodic ataxia, type 63 tests
  • Episodic kinesigenic dyskinesia 13 tests
  • Episodic pain syndrome, familial, 32 tests
  • Erythrocyte lactate transporter defect4 tests
  • Erythrocytosis, familial, 21 test
  • Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige3 tests
  • Erythrokeratodermia variabilis et progressiva 11 test
  • Erythrokeratodermia variabilis et progressiva 36 tests
  • ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 62 tests
  • Essential hypertension2 tests
  • Ethylmalonic encephalopathy11 tests
  • Exercise-induced hyperinsulinism3 tests
  • Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis1 test
  • Exudative vitreoretinopathy 13 tests
  • Exudative vitreoretinopathy 43 tests
  • Exudative vitreoretinopathy 51 test
  • Exudative vitreoretinopathy 61 test
  • Exudative vitreoretinopathy 73 tests
  • Fabry disease15 tests
  • Fabry disease, cardiac variant1 test
  • Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome1 test
  • Facial dysmorphism, immunodeficiency, livedo, and short stature3 tests
  • Facioscapulohumeral muscular dystrophy 23 tests
  • Factor H deficiency2 tests
  • Factor I deficiency1 test
  • Factor V deficiency1 test
  • Factor XII deficiency disease1 test
  • Failure of tooth eruption, primary1 test
  • Familial acne inversa 11 test
  • Familial adenomatous polyposis 110 tests
  • Familial amyloid nephropathy with urticaria AND deafness5 tests
  • Familial aortopathy2 tests
  • Familial atrial myxoma3 tests
  • Familial cancer of breast22 tests
  • Familial cold autoinflammatory syndrome 15 tests
  • Familial cold autoinflammatory syndrome 24 tests
  • Familial cold autoinflammatory syndrome 36 tests
  • Familial cold autoinflammatory syndrome 47 tests
  • Familial colorectal cancer13 tests
  • Familial dysautonomia7 tests
  • Familial expansile osteolysis3 tests
  • Familial exudative vitreoretinopathy, X-linked2 tests
  • Familial hemiplegic migraine type 15 tests
  • Familial hemiplegic migraine type 23 tests
  • Familial hemiplegic migraine type 33 tests
  • Familial hemophagocytic lymphohistiocytosis1 test
  • Familial hemophagocytic lymphohistiocytosis 25 tests
  • Familial hemophagocytic lymphohistiocytosis 35 tests
  • Familial hemophagocytic lymphohistiocytosis 45 tests
  • Familial hypercholesterolemia3 tests
  • Familial hypercholesterolemia 19 tests
  • Familial hypercholesterolemia 25 tests
  • Familial hypercholesterolemia 35 tests
  • Familial hypercholesterolemia 44 tests
  • Familial hyperkalemic periodic paralysis7 tests
  • Familial hypertriglyceridemia2 tests
  • Familial hypertrophic cardiomyopathy 112 tests
  • Familial hypertrophic cardiomyopathy 107 tests
  • Familial hypertrophic cardiomyopathy 115 tests
  • Familial hypertrophic cardiomyopathy 124 tests
  • Familial hypertrophic cardiomyopathy 134 tests
  • Familial hypertrophic cardiomyopathy 141 test
  • Familial hypertrophic cardiomyopathy 154 tests
  • Familial hypertrophic cardiomyopathy 186 tests
  • Familial hypertrophic cardiomyopathy 26 tests
  • Familial hypertrophic cardiomyopathy 35 tests
  • Familial hypertrophic cardiomyopathy 45 tests
  • Familial hypertrophic cardiomyopathy 66 tests
  • Familial hypertrophic cardiomyopathy 76 tests
  • Familial hypertrophic cardiomyopathy 84 tests
  • Familial hypertrophic cardiomyopathy 910 tests
  • Familial hypokalemia-hypomagnesemia4 tests
  • Familial idiopathic hypercalciuria1 test
  • Familial infantile myasthenia3 tests
  • Familial isolated deficiency of vitamin E6 tests
  • Familial juvenile hyperuricemic nephropathy type 13 tests
  • Familial Mediterranean fever9 tests
  • Familial mediterranean fever, autosomal dominant7 tests
  • Familial medullary thyroid carcinoma5 tests
  • Familial multiple nevi flammei1 test
  • Familial multiple polyposis syndrome9 tests
  • Familial pancreatic carcinoma4 tests
  • Familial partial lipodystrophy 213 tests
  • Familial partial lipodystrophy 32 tests
  • Familial platelet disorder with associated myeloid malignancy5 tests
  • Familial porphyria cutanea tarda3 tests
  • Familial progressive hyperpigmentation with or without hypopigmentation1 test
  • Familial prostate carcinoma3 tests
  • Familial pulmonary capillary hemangiomatosis1 test
  • Familial restrictive cardiomyopathy 16 tests
  • Familial restrictive cardiomyopathy 36 tests
  • Familial temporal lobe epilepsy 12 tests
  • Familial thoracic aortic aneurysm and aortic dissection1 test
  • Familial type 5 hyperlipoproteinemia2 tests
  • Familial visceral amyloidosis, Ostertag type6 tests
  • Familial X-linked hypophosphatemic vitamin D refractory rickets2 tests
  • Fanconi anemia4 tests
  • Fanconi anemia, complementation group A3 tests
  • Fanconi anemia, complementation group B3 tests
  • Fanconi anemia, complementation group C6 tests
  • Fanconi anemia, complementation group D12 tests
  • Fanconi anemia, complementation group D22 tests
  • Fanconi anemia, complementation group E3 tests
  • Fanconi anemia, complementation group F3 tests
  • Fanconi anemia, complementation group G2 tests
  • Fanconi anemia, complementation group I3 tests
  • Fanconi anemia, complementation group J2 tests
  • Fanconi anemia, complementation group L3 tests
  • Fanconi anemia, complementation group M2 tests
  • Fanconi anemia, complementation group N4 tests
  • Fanconi anemia, complementation group O4 tests
  • Fanconi anemia, complementation group P3 tests
  • Fanconi anemia, complementation group Q2 tests
  • Fanconi renotubular syndrome 17 tests
  • Fanconi renotubular syndrome 22 tests
  • Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young2 tests
  • Fanconi renotubular syndrome 52 tests
  • Fanconi-Bickel syndrome3 tests
  • Farber lipogranulomatosis11 tests
  • Fasting plasma glucose level quantitative trait locus 51 test
  • Fatal familial insomnia4 tests
  • Fatal infantile hypertonic myofibrillar myopathy5 tests
  • Febrile seizures, familial, 43 tests
  • Feingold syndrome 11 test
  • Fetal akinesia deformation sequence 24 tests
  • Fetal akinesia deformation sequence 32 tests
  • Fetal hemoglobin quantitative trait locus 61 test
  • FG syndrome 14 tests
  • FG syndrome 26 tests
  • FG syndrome 42 tests
  • Fibrochondrogenesis 14 tests
  • Fibrochondrogenesis 24 tests
  • Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement1 test
  • Fibrous dysplasia of jaw3 tests
  • Fibular hypoplasia and complex brachydactyly2 tests
  • Filippi syndrome2 tests
  • Finnish congenital nephrotic syndrome1 test
  • Fish-eye disease1 test
  • Fleck retina, familial benign1 test
  • FLNA related disorders1 test
  • Floating-Harbor syndrome1 test
  • Fluoxetine response1 test
  • Focal cortical dysplasia type II6 tests
  • Focal dermal hypoplasia1 test
  • Focal facial dermal dysplasia 3, Setleis type1 test
  • Focal segmental glomerulosclerosis 11 test
  • Focal segmental glomerulosclerosis 21 test
  • Focal segmental glomerulosclerosis 3, susceptibility to1 test
  • Focal segmental glomerulosclerosis 4, susceptibility to1 test
  • Focal segmental glomerulosclerosis 54 tests
  • Focal segmental glomerulosclerosis 61 test
  • Focal segmental glomerulosclerosis 74 tests
  • Focal segmental glomerulosclerosis 82 tests
  • Focal segmental glomerulosclerosis 92 tests
  • Foveal hypoplasia and presenile cataract syndrome3 tests
  • Fragile X syndrome3 tests
  • Frank-Ter Haar syndrome3 tests
  • Fraser syndrome 12 tests
  • Fraser syndrome 22 tests
  • Frasier syndrome5 tests
  • Freeman-Sheldon syndrome1 test
  • Frontometaphyseal dysplasia 16 tests
  • Frontometaphyseal dysplasia 22 tests
  • Frontotemporal dementia5 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 28 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 39 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 45 tests
  • Fructose-biphosphatase deficiency4 tests
  • Fucosidosis7 tests
  • Fuhrmann syndrome1 test
  • Fumarase deficiency11 tests
  • Galactosemia 42 tests
  • Galactosylceramide beta-galactosidase deficiency14 tests
  • Gallbladder disease 42 tests
  • Galloway-Mowat syndrome 31 test
  • Gamma-aminobutyric acid transaminase deficiency7 tests
  • Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to3 tests
  • Gardner syndrome8 tests
  • Gastric cancer5 tests
  • Gastrointestinal stromal tumor8 tests
  • Gaucher disease6 tests
  • Gaucher disease type 3C1 test
  • Gaucher disease type I1 test
  • Gaucher disease type II1 test
  • Gaucher disease type III1 test
  • Gaucher disease, atypical, due to saposin C deficiency5 tests
  • Gaucher disease, perinatal lethal1 test
  • Geleophysic dysplasia 24 tests
  • Geleophysic dysplasia 32 tests
  • Generalized arterial calcification of infancy 21 test
  • Generalized dominant dystrophic epidermolysis bullosa1 test
  • Generalized epilepsy with febrile seizures plus, type 11 test
  • Generalized epilepsy with febrile seizures plus, type 101 test
  • Generalized epilepsy with febrile seizures plus, type 23 tests
  • Generalized epilepsy with febrile seizures plus, type 73 tests
  • Generalized epilepsy with febrile seizures plus, type 91 test
  • Generalized juvenile polyposis/juvenile polyposis coli12 tests
  • Genetic glomerular disease1 test
  • Genetic prion disease2 tests
  • Genitopatellar syndrome2 tests
  • Germ cell tumor of testis5 tests
  • Geroderma osteodysplastica4 tests
  • Gerstmann-Straussler-Scheinker syndrome4 tests
  • Ghosal hematodiaphyseal dysplasia1 test
  • Giant axonal neuropathy 12 tests
  • Gilbert syndrome1 test
  • Gillespie syndrome2 tests
  • Gillessen-Kaesbach-Nishimura syndrome2 tests
  • Gingival fibromatosis 13 tests
  • Glaucoma1 test
  • Glaucoma 1, open angle, A1 test
  • Glaucoma 1, open angle, F1 test
  • Glaucoma 1, open angle, G1 test
  • Glaucoma 3, primary congenital, A2 tests
  • Glaucoma 3, primary congenital, d3 tests
  • Glaucoma 3, primary congenital, E1 test
  • Glaucoma 3, primary infantile, b4 tests
  • Glaucoma, normal tension, susceptibility to6 tests
  • Glaucoma, primary closed-angle3 tests
  • Glioma2 tests
  • Glioma susceptibility 12 tests
  • Glioma susceptibility 25 tests
  • Glioma susceptibility 91 test
  • Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome2 tests
  • Glomerulocystic kidney disease with hyperuricemia and isosthenuria3 tests
  • Glomerulopathy with fibronectin deposits 22 tests
  • Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency2 tests
  • Glucocorticoid deficiency with achalasia2 tests
  • Glucocorticoid resistance, generalized1 test
  • Glucose 6 phosphate dehydrogenase deficiency1 test
  • Glucose-6-phosphate transport defect13 tests
  • GLUT1 deficiency syndrome 18 tests
  • GLUT1 deficiency syndrome 28 tests
  • GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY3 tests
  • Glutaric aciduria, type 110 tests
  • Glutaryl-CoA oxidase deficiency4 tests
  • Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to6 tests
  • Glutathione synthetase deficiency with 5-oxoprolinuria6 tests
  • Glycine encephalopathy with normal serum glycine6 tests
  • Glycine N-methyltransferase deficiency4 tests
  • Glycogen storage disease6 tests
  • Glycogen storage disease 0, muscle5 tests
  • Glycogen storage disease due to glucose-6-phosphatase deficiency type IA5 tests
  • Glycogen storage disease due to hepatic glycogen synthase deficiency2 tests
  • Glycogen storage disease due to muscle beta-enolase deficiency3 tests
  • Glycogen storage disease IXb3 tests
  • Glycogen storage disease IXc2 tests
  • Glycogen storage disease IXd3 tests
  • Glycogen storage disease of heart, lethal congenital5 tests
  • Glycogen storage disease type III8 tests
  • Glycogen storage disease type IXa12 tests
  • Glycogen storage disease type X3 tests
  • Glycogen storage disease XI3 tests
  • Glycogen storage disease XV5 tests
  • Glycogen storage disease, type I2 tests
  • Glycogen storage disease, type II19 tests
  • Glycogen storage disease, type IV7 tests
  • Glycogen storage disease, type V5 tests
  • Glycogen storage disease, type VI2 tests
  • Glycogen storage disease, type VII6 tests
  • Glycosylphosphatidylinositol biosynthesis defect 153 tests
  • Glycosylphosphatidylinositol biosynthesis defect 162 tests
  • Glycosylphosphatidylinositol biosynthesis defect 212 tests
  • GM1 gangliosidosis1 test
  • GM1 gangliosidosis type 28 tests
  • GM1 gangliosidosis type 38 tests
  • GM3 synthase deficiency4 tests
  • Gnathodiaphyseal dysplasia6 tests
  • GNE myopathy8 tests
  • Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors4 tests
  • Goldberg-Shprintzen megacolon syndrome1 test
  • Goldblatt syndrome3 tests
  • Gonadotropin-independent familial sexual precocity1 test
  • Gordon Holmes syndrome1 test
  • Gordon syndrome1 test
  • Gorlin syndrome8 tests
  • GRACILE syndrome5 tests
  • Graft-versus-host disease, susceptibility to5 tests
  • Granulocytopenia with immunoglobulin abnormality2 tests
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative7 tests
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III7 tests
  • Grebe syndrome2 tests
  • Greenberg dysplasia2 tests
  • Greig cephalopolysyndactyly syndrome3 tests
  • Griscelli syndrome type 25 tests
  • Grn-related frontotemporal lobar degeneration with Tdp43 inclusions5 tests
  • Growth abnormality3 tests
  • Growth delay due to insulin-like growth factor type 1 deficiency1 test
  • Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant3 tests
  • Growth hormone insensitivity with immune dysregulation 1, autosomal recessive4 tests
  • Growth retardation, developmental delay, coarse facies, and early death1 test
  • GTP cyclohydrolase I deficiency11 tests
  • Guillain-Barre syndrome, familial5 tests
  • Guttmacher syndrome2 tests
  • Haim-Munk syndrome4 tests
  • Hajdu-Cheney syndrome5 tests
  • Hamartoma of hypothalamus3 tests
  • Hand-foot-genital syndrome2 tests
  • Harderoporphyria4 tests
  • Hartsfield syndrome3 tests
  • Hashimoto thyroiditis7 tests
  • Hawkinsinuria2 tests
  • Hay-Wells syndrome of ectodermal dysplasia3 tests
  • Hb SS disease1 test
  • Heart-hand syndrome, Slovenian type13 tests
  • Heimler syndrome 19 tests
  • Heimler syndrome 211 tests
  • Helicobacter pylori infection, susceptibility to2 tests
  • Hematologic neoplasm4 tests
  • Heme oxygenase 1 deficiency2 tests
  • Hemochromatosis type 16 tests
  • Hemochromatosis type 2A4 tests
  • Hemochromatosis type 2B2 tests
  • Hemochromatosis type 32 tests
  • Hemochromatosis type 42 tests
  • Hemochromatosis type 51 test
  • Hemolytic anemia due to glutathione reductase deficiency1 test
  • Hemolytic anemia due to hexokinase deficiency4 tests
  • Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency1 test
  • Hemophagocytic lymphohistiocytosis, familial, 59 tests
  • Hemorrhage, intracerebral, susceptibility to9 tests
  • Hemorrhagic destruction of the brain, subependymal calcification, and cataracts1 test
  • Hennekam lymphangiectasia-lymphedema syndrome 14 tests
  • Hennekam lymphangiectasia-lymphedema syndrome 24 tests
  • Hepatic adenomas, familial3 tests
  • Hepatic methionine adenosyltransferase deficiency6 tests
  • Hepatic veno-occlusive disease-immunodeficiency syndrome3 tests
  • Hepatitis b virus, susceptibility to5 tests
  • Hepatocellular carcinoma10 tests
  • Hereditary acrodermatitis enteropathica2 tests
  • Hereditary angioedema type 12 tests
  • Hereditary angioedema type 31 test
  • Hereditary breast and ovarian cancer syndrome11 tests
  • Hereditary cancer-predisposing syndrome6 tests
  • Hereditary cerebral amyloid angiopathy, Icelandic type1 test
  • Hereditary coproporphyria5 tests
  • Hereditary diffuse gastric cancer13 tests
  • Hereditary diffuse leukoencephalopathy with spheroids3 tests
  • Hereditary disease1 test
  • Hereditary factor IX deficiency disease1 test
  • Hereditary factor XI deficiency disease2 tests
  • Hereditary fructosuria4 tests
  • Hereditary hearing loss and deafness2 tests
  • Hereditary hemochromatosis1 test
  • Hereditary hemorrhagic telangiectasia3 tests
  • Hereditary hemorrhagic telangiectasia type 12 tests
  • Hereditary hyperferritinemia with congenital cataracts5 tests
  • Hereditary insensitivity to pain with anhidrosis4 tests
  • Hereditary leiomyomatosis and renal cell cancer6 tests
  • Hereditary liability to pressure palsies4 tests
  • Hereditary melanoma4 tests
  • Hereditary mixed polyposis syndrome 28 tests
  • Hereditary motor and sensory neuropathy with optic atrophy4 tests
  • Hereditary motor and sensory neuropathy, Okinawa type6 tests
  • Hereditary neutrophilia2 tests
  • Hereditary nonpolyposis colorectal cancer type 47 tests
  • Hereditary nonpolyposis colorectal cancer type 57 tests
  • Hereditary nonpolyposis colorectal cancer type 66 tests
  • Hereditary nonpolyposis colorectal cancer type 810 tests
  • Hereditary ovarian carcinoma6 tests
  • Hereditary pancreatitis4 tests
  • Hereditary Paraganglioma-Pheochromocytoma Syndromes7 tests
  • Hereditary pyropoikilocytosis1 test
  • Hereditary sensory and autonomic neuropathy type IC2 tests
  • Hereditary sensory and autonomic neuropathy type IIA7 tests
  • Hereditary sensory and autonomic neuropathy type IIB2 tests
  • Hereditary sensory and autonomic neuropathy type IIC7 tests
  • Hereditary sensory neuropathy type 1D3 tests
  • Hereditary sensory neuropathy type IE3 tests
  • Hereditary sensory neuropathy type IF2 tests
  • Hereditary spastic paraplegia 106 tests
  • Hereditary spastic paraplegia 121 test
  • Hereditary spastic paraplegia 133 tests
  • Hereditary spastic paraplegia 156 tests
  • Hereditary spastic paraplegia 181 test
  • Hereditary spastic paraplegia 24 tests
  • Hereditary spastic paraplegia 264 tests
  • Hereditary spastic paraplegia 392 tests
  • Hereditary spastic paraplegia 3A3 tests
  • Hereditary spastic paraplegia 5A4 tests
  • Hereditary spastic paraplegia 62 tests
  • Hereditary spastic paraplegia 73 tests
  • Hereditary spastic paraplegia 81 test
  • Hereditary spastic paraplegia 9A5 tests
  • Hereditary thrombophilia3 tests
  • Hereditary xanthinuria type 13 tests
  • Hermansky-Pudlak syndrome3 tests
  • Hermansky-Pudlak syndrome 11 test
  • Hermansky-Pudlak syndrome 103 tests
  • Hermansky-Pudlak syndrome 25 tests
  • Hermansky-Pudlak syndrome 31 test
  • Hermansky-Pudlak syndrome 41 test
  • Hermansky-Pudlak syndrome 51 test
  • Hermansky-Pudlak syndrome 61 test
  • Hermansky-Pudlak syndrome 71 test
  • Hermansky-Pudlak syndrome 81 test
  • Hermansky-Pudlak syndrome 94 tests
  • Herpes simplex encephalitis 12 tests
  • Herpes simplex encephalitis 21 test
  • Herpes simplex encephalitis, susceptibility to, 32 tests
  • Herpes simplex encephalitis, susceptibility to, 42 tests
  • Heterotaxy, visceral, 1, X-linked2 tests
  • Heterotaxy, visceral, 4, autosomal2 tests
  • Heterotaxy, visceral, 6, autosomal1 test
  • Heterotopia, periventricular, autosomal recessive1 test
  • Hexosaminidase A deficiency, adult type1 test
  • Heyn-Sproul-Jackson syndrome1 test
  • Hidrotic ectodermal dysplasia syndrome1 test
  • High density lipoprotein cholesterol level quantitative trait locus 61 test
  • Hirschsprung disease 22 tests
  • Hirschsprung disease 41 test
  • Histiocytic medullary reticulosis9 tests
  • Histiocytosis-lymphadenopathy plus syndrome4 tests
  • HNSHA due to aldolase A deficiency4 tests
  • Holocarboxylase synthetase deficiency11 tests
  • Holoprosencephaly 111 test
  • Holoprosencephaly 13, X-linked2 tests
  • Holoprosencephaly 23 tests
  • Holoprosencephaly 34 tests
  • Holoprosencephaly 43 tests
  • Holoprosencephaly 53 tests
  • Holoprosencephaly 72 tests
  • Holoprosencephaly 93 tests
  • Holoprosencephaly sequence3 tests
  • Holt-Oram syndrome4 tests
  • Homocystinuria2 tests
  • Homocystinuria due to methylene tetrahydrofolate reductase deficiency10 tests
  • Homocystinuria due to MTHFR deficiency3 tests
  • Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type8 tests
  • Hoyeraal-Hreidarsson syndrome1 test
  • HSD10 disease7 tests
  • Human immunodeficiency virus type 1, susceptibility to5 tests
  • Huntington disease1 test
  • Huntington disease-like 14 tests
  • Hurler syndrome9 tests
  • Hurthle cell carcinoma of thyroid1 test
  • Hutchinson-Gilford syndrome13 tests
  • Hydrocephalus, congenital, 2, with or without brain or eye anomalies2 tests
  • Hydrolethalus syndrome 12 tests
  • Hydrolethalus syndrome 26 tests
  • Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to1 test
  • Hydrops, lactic acidosis, and sideroblastic anemia3 tests
  • Hyper-IgE recurrent infection syndrome 1, autosomal dominant10 tests
  • Hyper-IgE recurrent infection syndrome 3, autosomal recessive6 tests
  • Hyper-ige recurrent infection syndrome 4, autosomal recessive3 tests
  • Hyper-IgE recurrent infection syndrome 5, autosomal recessive3 tests
  • Hyper-IgM syndrome type 19 tests
  • Hyper-IgM syndrome type 26 tests
  • Hyper-IgM syndrome type 38 tests
  • Hyper-IgM syndrome type 54 tests
  • Hyperaldosteronism, familial, type I1 test
  • Hyperaldosteronism, familial, type II2 tests
  • Hyperaldosteronism, familial, type IV1 test
  • Hyperalphalipoproteinemia1 test
  • Hyperalphalipoproteinemia 12 tests
  • Hyperalphalipoproteinemia 21 test
  • Hyperammonemia, type III10 tests
  • Hypercalcemia, infantile, 11 test
  • Hypercalcemia, infantile, 22 tests
  • Hypercholanemia, familial1 test
  • Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency2 tests
  • Hyperekplexia 19 tests
  • Hyperekplexia 26 tests
  • Hyperekplexia 36 tests
  • Hyperekplexia 46 tests
  • Hyperglycinuria4 tests
  • Hyperimmunoglobulin D with periodic fever7 tests
  • Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive7 tests
  • Hyperinsulinemic hypoglycemia familial 51 test
  • Hyperinsulinemic hypoglycemia, familial, 12 tests
  • Hyperinsulinemic hypoglycemia, familial, 22 tests
  • Hyperinsulinemic hypoglycemia, familial, 47 tests
  • Hyperinsulinism due to glucokinase deficiency2 tests
  • Hyperinsulinism-hyperammonemia syndrome4 tests
  • Hyperlipidemia, familial combined, LPL related1 test
  • Hyperlipoproteinemia, type I4 tests
  • Hyperlipoproteinemia, type ID2 tests
  • Hyperlysinemia1 test
  • Hypermanganesemia with dystonia 24 tests
  • Hypermanganesemia with dystonia, polycythemia, and cirrhosis5 tests
  • Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency5 tests
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome10 tests
  • Hyperostosis cranialis interna4 tests
  • Hyperparathyroidism2 tests
  • Hyperparathyroidism 13 tests
  • Hyperphenylalaninemia due to tetrahydrobiopterin deficiency2 tests
  • Hyperphenylalaninemia, BH4-deficient, D7 tests
  • Hyperphenylalaninemia, mild, non-bh4-deficient7 tests
  • Hyperphosphatasemia tarda1 test
  • Hyperphosphatasemia with bone disease1 test
  • Hyperphosphatasia with mental retardation syndrome 14 tests
  • Hyperphosphatasia with mental retardation syndrome 23 tests
  • Hyperphosphatasia with mental retardation syndrome 32 tests
  • Hyperphosphatasia with mental retardation syndrome 42 tests
  • Hyperphosphatasia with mental retardation syndrome 53 tests
  • Hyperphosphatasia with mental retardation syndrome 62 tests
  • Hyperphosphatemic familial tumoral calcinosis 13 tests
  • Hyperphosphatemic familial tumoral calcinosis 32 tests
  • Hyperproinsulinemia1 test
  • Hyperprolinemia1 test
  • Hypertelorism, Teebi type1 test
  • Hyperthyroxinemia, familial dysalbuminemic1 test
  • Hypertrichotic osteochondrodysplasia Cantu type5 tests
  • Hypertriglyceridemia, transient infantile2 tests
  • Hypertrophic cardiomyopathy 2510 tests
  • Hypertrophic osteoarthropathy, primary, autosomal recessive, 11 test
  • Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis2 tests
  • Hyperuricemic nephropathy, familial juvenile, 21 test
  • Hyperuricemic nephropathy, familial juvenile, 43 tests
  • Hypervalinemia and hyperleucine-isoleucinemia2 tests
  • Hypoalphalipoproteinemia, primary, 12 tests
  • Hypoalphalipoproteinemia, primary, 22 tests
  • Hypobetalipoproteinemia1 test
  • Hypobetalipoproteinemia, familial, 12 tests
  • Hypobetalipoproteinemia, familial, 21 test
  • Hypocalcemia, autosomal dominant 14 tests
  • Hypocalciuric hypercalcemia, familial, type 14 tests
  • Hypochondroplasia3 tests
  • Hypochromic microcytic anemia with iron overload 21 test
  • Hypoglycemia, neonatal, simulating foetopathia diabetica3 tests
  • Hypogonadism with anosmia2 tests
  • Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities4 tests
  • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)2 tests
  • Hypogonadotropic hypogonadism 2 with or without anosmia6 tests
  • Hypogonadotropic hypogonadism 5 with or without anosmia6 tests
  • Hypogonadotropic hypogonadism 7 with or without anosmia3 tests
  • Hypohidrotic ectodermal dysplasia1 test
  • Hypohidrotic X-linked ectodermal dysplasia2 tests
  • Hypokalemic periodic paralysis3 tests
  • Hypokalemic periodic paralysis 111 tests
  • Hypokalemic periodic paralysis, type 28 tests
  • Hypomagnesemia 1, intestinal2 tests
  • Hypomagnesemia 4, renal2 tests
  • Hypomagnesemia 5, renal, with ocular involvement3 tests
  • Hypomagnesemia 6, renal2 tests
  • Hypomagnesemia, seizures, and mental retardation 12 tests
  • Hypomagnesemia, seizures, and mental retardation 22 tests
  • Hypomyelinating leukodystrophy 31 test
  • Hypomyelinating leukodystrophy 73 tests
  • Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism1 test
  • Hypomyelination and Congenital Cataract3 tests
  • Hypomyelination, global cerebral4 tests
  • Hypoparathyroidism, deafness, renal disease syndrome1 test
  • Hypoparathyroidism-retardation-dysmorphism syndrome1 test
  • Hypophosphatasia3 tests
  • Hypophosphatemic rickets, autosomal recessive, 21 test
  • Hypophosphatemic rickets, X-linked recessive2 tests
  • Hypopigmentation, organomegaly, and delayed myelination and development3 tests
  • Hypoplastic enamel-onycholysis-hypohidrosis syndrome1 test
  • Hypoplastic left heart syndrome 17 tests
  • Hypoplastic left heart syndrome 24 tests
  • Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration8 tests
  • Hypoproteinemia, hypercatabolic3 tests
  • Hypospadias 1, X-linked1 test
  • Hypospadias 2, X-linked1 test
  • Hypothyroidism, congenital, nongoitrous, 53 tests
  • Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome1 test
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 21 test
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 33 tests
  • Hystrix-like ichthyosis with deafness1 test
  • Ichthyosis prematurity syndrome1 test
  • Ichthyosis, spastic quadriplegia, and mental retardation2 tests
  • Idiopathic basal ganglia calcification 13 tests
  • Idiopathic growth hormone deficiency1 test
  • Idiopathic nephrotic syndrome1 test
  • Idiopathic Pulmonary Fibrosis5 tests
  • IFAP syndrome with or without BRESHECK syndrome1 test
  • Ige responsiveness, atopic6 tests
  • IL21R immunodeficiency5 tests
  • Imerslund-Gräsbeck syndrome 14 tests
  • Imerslund-Gräsbeck syndrome 24 tests
  • Iminoglycinuria4 tests
  • Immunodeficiency 114 tests
  • Immunodeficiency 11b with atopic dermatitis3 tests
  • Immunodeficiency 123 tests
  • Immunodeficiency 131 test
  • Immunodeficiency 148 tests
  • Immunodeficiency 153 tests
  • Immunodeficiency 15a2 tests
  • Immunodeficiency 163 tests
  • Immunodeficiency 176 tests
  • Immunodeficiency 183 tests
  • Immunodeficiency 193 tests
  • Immunodeficiency 223 tests
  • Immunodeficiency 2311 tests
  • Immunodeficiency 243 tests
  • Immunodeficiency 26 with or without neurologic abnormalities4 tests
  • Immunodeficiency 27A2 tests
  • Immunodeficiency 27b2 tests
  • Immunodeficiency 282 tests
  • Immunodeficiency 292 tests
  • Immunodeficiency 302 tests
  • Immunodeficiency 31a6 tests
  • Immunodeficiency 31C6 tests
  • Immunodeficiency 32a2 tests
  • Immunodeficiency 32b2 tests
  • Immunodeficiency 353 tests
  • Immunodeficiency 3610 tests
  • Immunodeficiency 373 tests
  • Immunodeficiency 38 with basal ganglia calcification2 tests
  • Immunodeficiency 392 tests
  • Immunodeficiency 403 tests
  • Immunodeficiency 422 tests
  • Immunodeficiency 443 tests
  • Immunodeficiency 451 test
  • Immunodeficiency 464 tests
  • Immunodeficiency 476 tests
  • Immunodeficiency 493 tests
  • Immunodeficiency 503 tests
  • Immunodeficiency 512 tests
  • Immunodeficiency 522 tests
  • Immunodeficiency 532 tests
  • Immunodeficiency 574 tests
  • Immunodeficiency 604 tests
  • Immunodeficiency 612 tests
  • Immunodeficiency 622 tests
  • Immunodeficiency 63 with lymphoproliferation and autoimmunity5 tests
  • Immunodeficiency 642 tests
  • Immunodeficiency 65, susceptibility to viral infections1 test
  • Immunodeficiency 672 tests
  • Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia5 tests
  • Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia5 tests
  • Immunodeficiency 83 tests
  • Immunodeficiency due to defect in CD3-gamma1 test
  • Immunodeficiency due to defect in cd3-zeta3 tests
  • Immunodeficiency due to defect in mapbp-interacting protein4 tests
  • Immunodeficiency, common variable, 123 tests
  • Immunodeficiency, common variable, 144 tests
  • Immunodeficiency, developmental delay, and hypohomocysteinemia2 tests
  • Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia8 tests
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 14 tests
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 24 tests
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 33 tests
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 43 tests
  • Immunoglobulin A deficiency 24 tests
  • Immunoskeletal dysplasia with neurodevelopmental abnormalities5 tests
  • Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 16 tests
  • Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 24 tests
  • Indifference to pain, congenital, autosomal recessive3 tests
  • Infantile cerebellar-retinal degeneration4 tests
  • Infantile convulsions and choreoathetosis3 tests
  • Infantile cortical hyperostosis2 tests
  • Infantile epileptic dyskinetic encephalopathy1 test
  • Infantile GM1 gangliosidosis10 tests
  • Infantile hypophosphatasia3 tests
  • Infantile liver failure syndrome 24 tests
  • Infantile liver failure syndrome 31 test
  • Infantile myofibromatosis 11 test
  • Infantile myofibromatosis 22 tests
  • Infantile nephronophthisis4 tests
  • Infantile nephropathic cystinosis1 test
  • Infantile neuroaxonal dystrophy7 tests
  • Infantile nystagmus, X-linked1 test
  • Infantile onset spinocerebellar ataxia6 tests
  • Infantile spasms-broad thumbs syndrome1 test
  • Infantile-onset ascending hereditary spastic paralysis5 tests
  • Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations4 tests
  • Inflammatory bowel disease 15 tests
  • Inflammatory bowel disease 171 test
  • Inflammatory bowel disease 25, autosomal recessive5 tests
  • Inflammatory bowel disease 28, autosomal recessive5 tests
  • Inflammatory bowel disease 303 tests
  • Inflammatory bowel disease, immunodeficiency, and encephalopathy5 tests
  • Inflammatory skin and bowel disease, neonatal 15 tests
  • Inosine triphosphatase deficiency3 tests
  • Insulin-dependent diabetes mellitus secretory diarrhea syndrome6 tests
  • Insulin-resistant diabetes mellitus AND acanthosis nigricans1 test
  • Intellectual developmental disorder 60 with seizures1 test
  • Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures1 test
  • Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities1 test
  • Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies4 tests
  • Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities3 tests
  • Intellectual developmental disorder, X-linked 1082 tests
  • Intellectual disability, autosomal dominant 461 test
  • Intellectual disability, autosomal dominant 541 test
  • Intellectual disability, autosomal dominant 55, with seizures3 tests
  • Intellectual disability, autosomal dominant 561 test
  • Intellectual disability, autosomal dominant 97 tests
  • Intellectual disability, autosomal recessive 611 test
  • Intellectual disability, X-linked 1062 tests
  • Intellectual disability-cataracts-calcified pinnae-myopathy syndrome1 test
  • Interleukin 2 receptor, alpha, deficiency of6 tests
  • Interleukin 6, serum level of, quantitative trait locus3 tests
  • Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital1 test
  • Intervertebral disc disorder4 tests
  • Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency1 test
  • Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked6 tests
  • Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies4 tests
  • Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency2 tests
  • Invasive pneumococcal disease, recurrent isolated, 11 test
  • Irido-corneo-trabecular dysgenesis4 tests
  • Irinotecan response1 test
  • Iron-refractory iron deficiency anemia1 test
  • Isolated coronal synostosis1 test
  • Isolated growth hormone deficiency type IB1 test
  • Isolated growth hormone deficiency, type 41 test
  • Isolated Nonsyndromic Congenital Heart Disease/Defects1 test
  • Isolated sulfite oxidase deficiency4 tests
  • Isovaleryl-CoA dehydrogenase deficiency8 tests
  • Jaberi-Elahi syndrome2 tests
  • Jackson-Weiss syndrome4 tests
  • Jalili syndrome1 test
  • Jervell and Lange-Nielsen syndrome1 test
  • Jervell and Lange-Nielsen syndrome 13 tests
  • Jervell and Lange-Nielsen syndrome 24 tests
  • Jeune thoracic dystrophy2 tests
  • Johanson-Blizzard syndrome2 tests
  • Joint laxity, short stature, and myopia1 test
  • Joubert syndrome3 tests
  • Joubert syndrome 14 tests
  • Joubert syndrome 109 tests
  • Joubert syndrome 134 tests
  • Joubert syndrome 144 tests
  • Joubert syndrome 154 tests
  • Joubert syndrome 164 tests
  • Joubert syndrome 174 tests
  • Joubert syndrome 185 tests
  • Joubert syndrome 28 tests
  • Joubert syndrome 204 tests
  • Joubert syndrome 216 tests
  • Joubert syndrome 224 tests
  • Joubert syndrome 235 tests
  • Joubert syndrome 242 tests
  • Joubert syndrome 253 tests
  • Joubert syndrome 272 tests
  • Joubert syndrome 284 tests
  • Joubert syndrome 35 tests
  • Joubert syndrome 301 test
  • Joubert syndrome 312 tests
  • Joubert syndrome 351 test
  • Joubert syndrome 46 tests
  • Joubert syndrome 59 tests
  • Joubert syndrome 66 tests
  • Joubert syndrome 77 tests
  • Joubert syndrome 84 tests
  • Joubert syndrome 94 tests
  • Joubert syndrome with hepatic defect5 tests
  • Junctional epidermolysis bullosa, non-Herlitz type2 tests
  • Juvenile (Subacute) Hexosaminidase A Deficiency1 test
  • Juvenile amyotrophic lateral sclerosis2 tests
  • Juvenile hemochromatosis1 test
  • Juvenile myelomonocytic leukemia9 tests
  • Juvenile nephropathic cystinosis4 tests
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome12 tests
  • Juvenile primary lateral sclerosis5 tests
  • Juvenile retinoschisis2 tests
  • Kabuki syndrome 18 tests
  • Kabuki syndrome 28 tests
  • Kahrizi syndrome3 tests
  • Kartagener syndrome4 tests
  • KBG syndrome2 tests
  • Kennedy disease1 test
  • Kenny-Caffey syndrome type 22 tests
  • Keppen-Lubinsky syndrome1 test
  • Keratitis fugax hereditaria4 tests
  • Keratitis, hereditary3 tests
  • Keratitis-ichthyosis-deafness syndrome, autosomal dominant1 test
  • Keratolytic winter erythema1 test
  • Keratosis follicularis1 test
  • Keratosis follicularis spinulosa decalvans, X-linked1 test
  • Keratosis linearis with ichthyosis congenita and sclerosing keratoderma3 tests
  • Keratosis palmoplantaris striata II5 tests
  • Keutel syndrome4 tests
  • Kilquist syndrome1 test
  • Kindler syndrome1 test
  • Kleefstra syndrome 14 tests
  • Kleefstra syndrome 21 test
  • Klinefelter syndrome11 tests
  • Klippel-Feil syndrome1 test
  • Klippel-Feil syndrome 1, autosomal dominant5 tests
  • Klippel-Feil syndrome 2, autosomal recessive2 tests
  • Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism5 tests
  • Kniest dysplasia4 tests
  • Knobloch syndrome 13 tests
  • Knuckle pads, deafness AND leukonychia syndrome1 test
  • Koolen-de Vries syndrome2 tests
  • Kosaki overgrowth syndrome1 test
  • Kostmann syndrome4 tests
  • Krabbe disease, atypical, due to saposin A deficiency5 tests
  • Kufor-Rakeb syndrome9 tests
  • Kugelberg-Welander disease4 tests
  • Kuru, susceptibility to4 tests
  • L-2-hydroxyglutaric aciduria5 tests
  • L-ferritin deficiency5 tests
  • Lafora disease2 tests
  • Langer-Giedion syndrome1 test
  • Large congenital melanocytic nevus4 tests
  • Laron-type isolated somatotropin defect2 tests
  • Larsen syndrome2 tests
  • Late-onset retinal degeneration1 test
  • Lateral meningocele syndrome2 tests
  • Lathosterolosis2 tests
  • Laurence-Moon syndrome2 tests
  • Laurin-Sandrow syndrome1 test
  • Lazy leukocyte syndrome2 tests
  • LCAT deficiency1 test
  • Leber congenital amaurosis1 test
  • Leber congenital amaurosis 11 test
  • Leber congenital amaurosis 109 tests
  • Leber congenital amaurosis 112 tests
  • Leber congenital amaurosis 121 test
  • Leber congenital amaurosis 133 tests
  • Leber congenital amaurosis 141 test
  • Leber congenital amaurosis 151 test
  • Leber congenital amaurosis 161 test
  • Leber congenital amaurosis 175 tests
  • Leber congenital amaurosis 23 tests
  • Leber congenital amaurosis 31 test
  • Leber congenital amaurosis 41 test
  • Leber congenital amaurosis 53 tests
  • Leber congenital amaurosis 61 test
  • Leber congenital amaurosis 71 test
  • Leber congenital amaurosis 83 tests
  • Leber congenital amaurosis 91 test
  • Leber congenital amaurosis with early-onset deafness1 test
  • Left ventricular noncompaction 104 tests
  • Left ventricular noncompaction 66 tests
  • Legius syndrome4 tests
  • Leigh syndrome11 tests
  • Lenz microphthalmia syndrome5 tests
  • Lenz-Majewski hyperostosis syndrome2 tests
  • LEOPARD syndrome 15 tests
  • LEOPARD syndrome 25 tests
  • LEOPARD syndrome 34 tests
  • Leprechaunism syndrome1 test
  • Leptin deficiency or dysfunction1 test
  • Leptin receptor deficiency1 test
  • Lesch-Nyhan syndrome5 tests
  • Lethal acantholytic epidermolysis bullosa5 tests
  • Lethal congenital contracture syndrome2 tests
  • Lethal congenital contracture syndrome 56 tests
  • Lethal congenital contracture syndrome 71 test
  • Lethal Kniest-like syndrome2 tests
  • Lethal multiple pterygium syndrome3 tests
  • Lethal osteosclerotic bone dysplasia2 tests
  • Lethal tight skin contracture syndrome13 tests
  • Leucine-induced hypoglycemia2 tests
  • Leukocyte adhesion deficiency 17 tests
  • Leukocyte adhesion deficiency type II6 tests
  • Leukocyte adhesion deficiency, type III4 tests
  • Leukodystrophy and acquired microcephaly with or without dystonia1 test
  • Leukodystrophy, adult-onset, autosomal dominant1 test
  • Leukodystrophy, hypomyelinating, 101 test
  • Leukodystrophy, hypomyelinating, 112 tests
  • Leukodystrophy, hypomyelinating, 121 test
  • Leukodystrophy, hypomyelinating, 131 test
  • Leukodystrophy, hypomyelinating, 141 test
  • Leukodystrophy, hypomyelinating, 161 test
  • Leukodystrophy, hypomyelinating, 171 test
  • Leukodystrophy, hypomyelinating, 181 test
  • Leukodystrophy, hypomyelinating, 23 tests
  • Leukodystrophy, hypomyelinating, 43 tests
  • Leukodystrophy, hypomyelinating, 64 tests
  • Leukoencephalopathy with ataxia2 tests
  • Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome2 tests
  • Leukoencephalopathy with dystonia and motor neuropathy4 tests
  • Leukoencephalopathy with vanishing white matter5 tests
  • Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate2 tests
  • Leukoencephalopathy, brain calcifications, and cysts1 test
  • Leukoencephalopathy, cystic, without megalencephaly2 tests
  • Leukoencephalopathy, progressive, with ovarian failure2 tests
  • Levy-Hollister syndrome3 tests
  • Lewy body dementia4 tests
  • Leydig cell hypoplasia, type 11 test
  • Li-Fraumeni syndrome18 tests
  • Li-Fraumeni syndrome 122 tests
  • Li-Fraumeni syndrome 27 tests
  • Liang-Wang syndrome3 tests
  • Liberfarb syndrome1 test
  • Liebenberg syndrome1 test
  • Lig4 syndrome7 tests
  • Limb-girdle muscular dystrophy2 tests
  • Limb-girdle muscular dystrophy, type 1E5 tests
  • Limb-girdle muscular dystrophy, type 1F4 tests
  • Limb-girdle muscular dystrophy, type 1G3 tests
  • Limb-girdle muscular dystrophy, type 2A6 tests
  • Limb-girdle muscular dystrophy, type 2J10 tests
  • Limb-girdle muscular dystrophy, type 2L6 tests
  • Limb-girdle muscular dystrophy, type 2Q3 tests
  • Limb-girdle muscular dystrophy, type 2S6 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C19 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C29 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C310 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C412 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C512 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C97 tests
  • Limb-mammary syndrome3 tests
  • Linear skin defects with multiple congenital anomalies 13 tests
  • Linear skin defects with multiple congenital anomalies 22 tests
  • Linear skin defects with multiple congenital anomalies 32 tests
  • Lipase deficiency, combined2 tests
  • Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency7 tests
  • Lipodystrophy, congenital generalized, type 31 test
  • Lipoyltransferase 1 deficiency6 tests
  • Lissencephaly 2, X-linked6 tests
  • Lissencephaly 32 tests
  • Lissencephaly 41 test
  • Lissencephaly 52 tests
  • Lissencephaly 6, with microcephaly1 test
  • Lissencephaly 7 with cerebellar hypoplasia1 test
  • Lissencephaly 82 tests
  • Lissencephaly due to LIS1 mutation4 tests
  • Lissencephaly, X-linked1 test
  • Loeys-Dietz syndrome 17 tests
  • Loeys-Dietz syndrome 27 tests
  • Loeys-Dietz syndrome 32 tests
  • Loeys-Dietz syndrome 42 tests
  • Loeys-Dietz syndrome 52 tests
  • Long QT syndrome1 test
  • Long QT syndrome 15 tests
  • Long QT syndrome 143 tests
  • Long QT syndrome 153 tests
  • Long QT syndrome 162 tests
  • Long QT syndrome 25 tests
  • Long QT syndrome 37 tests
  • Long QT syndrome 54 tests
  • Long QT syndrome 61 test
  • Long QT syndrome 86 tests
  • Long QT syndrome 96 tests
  • Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency7 tests
  • Lopes-Maciel-Rodan syndrome1 test
  • Low phospholipid associated cholelithiasis1 test
  • Lowe syndrome5 tests
  • Lowry-Wood syndrome1 test
  • Lucey-Driscoll syndrome1 test
  • Lung cancer4 tests
  • Lung carcinoma2 tests
  • Lung disease, immunodeficiency, and chromosome breakage syndrome3 tests
  • Luscan-lumish syndrome3 tests
  • Lymphangiomyomatosis3 tests
  • Lymphatic malformation 33 tests
  • Lymphedema, hereditary, III1 test
  • Lymphedema, primary, with myelodysplasia11 tests
  • Lymphoma, Non-Hodgkin, Familial1 test
  • Lymphoproliferative syndrome 16 tests
  • Lymphoproliferative syndrome 1, X-linked8 tests
  • Lymphoproliferative syndrome 27 tests
  • Lymphoproliferative syndrome 2, X-linked7 tests
  • Lynch syndrome17 tests
  • Lynch syndrome I15 tests
  • Lynch syndrome II19 tests
  • Lysinuric protein intolerance10 tests
  • Lysosomal acid lipase deficiency10 tests
  • Macrocephalus1 test
  • Macrocephaly with multiple epiphyseal dysplasia and distinctive facies6 tests
  • Macrocephaly, alopecia, cutis laxa, and scoliosis1 test
  • Macrocephaly, dysmorphic facies, and psychomotor retardation1 test
  • Macrocephaly/autism syndrome3 tests
  • Macrocephaly/megalencephaly syndrome, autosomal recessive2 tests
  • Macroglobulinemia, Waldenstrom, susceptibility to, 12 tests
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss2 tests
  • Macular corneal dystrophy2 tests
  • Macular degeneration, age-related, 151 test
  • Macular degeneration, early-onset1 test
  • Macular degeneration, X-linked atrophic4 tests
  • Macular dystrophy with central cone involvement6 tests
  • Macular dystrophy, patterned, 11 test
  • Macular dystrophy, patterned, 21 test
  • Macular dystrophy, patterned, 31 test
  • Macular dystrophy, vitelliform, 41 test
  • Macular dystrophy, vitelliform, 51 test
  • Macular dystrophy, vitelliform, adult-onset1 test
  • Mahvash disease1 test
  • Majeed syndrome6 tests
  • Major depressive disorder2 tests
  • Malignant hyperthermia susceptibility1 test
  • Malignant hyperthermia, susceptibility to, 16 tests
  • Malignant hyperthermia, susceptibility to, 56 tests
  • Malignant melanoma of skin2 tests
  • Malignant neoplasm of brain2 tests
  • Malignant neoplasm of endocrine gland2 tests
  • Malignant rhabdoid tumor, somatic1 test
  • Malignant tumor of esophagus9 tests
  • Malignant tumor of kidney2 tests
  • Malignant tumor of prostate6 tests
  • Malignant tumor of testis2 tests
  • Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome2 tests
  • Mandibuloacral dysplasia with type A lipodystrophy13 tests
  • Mandibuloacral dysplasia with type B lipodystrophy1 test
  • Mandibulofacial dysostosis with alopecia1 test
  • Mandibulofacial dysostosis-microcephaly syndrome1 test
  • Maple syrup urine disease13 tests
  • Maple syrup urine disease type 1A1 test
  • Maple syrup urine disease, mild variant5 tests
  • Maple syrup urine disease, type 316 tests
  • Marden-Walker syndrome1 test
  • Marfan lipodystrophy syndrome4 tests
  • Marfan syndrome5 tests
  • Marinesco-Sjögren syndrome2 tests
  • Marshall syndrome4 tests
  • Marshall-Smith syndrome2 tests
  • MASA syndrome3 tests
  • MASS syndrome4 tests
  • Mast syndrome1 test
  • Maternal phenylketonuria4 tests
  • Matthew-Wood syndrome1 test
  • Maturity-onset diabetes of the young type 42 tests
  • Maturity-onset diabetes of the young type 62 tests
  • Maturity-onset diabetes of the young type 71 test
  • Maturity-onset diabetes of the young type 91 test
  • Maturity-onset diabetes of the young, type 12 tests
  • Maturity-onset diabetes of the young, type 101 test
  • Maturity-onset diabetes of the young, type 111 test
  • Maturity-onset diabetes of the young, type 132 tests
  • Maturity-onset diabetes of the young, type 141 test
  • Maturity-onset diabetes of the young, type 22 tests
  • Maturity-onset diabetes of the young, type 33 tests
  • McCune-Albright syndrome5 tests
  • McKusick-Kaufman syndrome5 tests
  • Meacham syndrome3 tests
  • Meckel syndrome 132 tests
  • Meckel syndrome type 17 tests
  • Meckel syndrome type 64 tests
  • Meckel syndrome type 76 tests
  • Meckel syndrome type 84 tests
  • Meckel syndrome, type 103 tests
  • Meckel syndrome, type 114 tests
  • Meckel syndrome, type 24 tests
  • Meckel syndrome, type 36 tests
  • Meckel syndrome, type 49 tests
  • Meckel syndrome, type 54 tests
  • Meckel syndrome, type 94 tests
  • Meckel-Gruber syndrome3 tests
  • Meconium ileus1 test
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency12 tests
  • Medulloblastoma7 tests
  • Meester-loeys syndrome2 tests
  • Megaconial type congenital muscular dystrophy4 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts2 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 12 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 2a2 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation2 tests
  • Megalencephaly-capillary malformation-polymicrogyria syndrome3 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 13 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 24 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 32 tests
  • Megaloblastic anemia due to dihydrofolate reductase deficiency6 tests
  • Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness6 tests
  • Meier-Gorlin syndrome 12 tests
  • Meier-Gorlin syndrome 22 tests
  • Meier-Gorlin syndrome 32 tests
  • Meier-Gorlin syndrome 42 tests
  • Meier-Gorlin syndrome 52 tests
  • Meier-gorlin syndrome 62 tests
  • Meier-gorlin syndrome 72 tests
  • Meier-Gorlin syndrome 81 test
  • Melanoma4 tests
  • Melanoma and neural system tumor syndrome4 tests
  • Melanoma, cutaneous malignant, susceptibility to, 102 tests
  • Melanoma-pancreatic cancer syndrome5 tests
  • Melnick-Needles syndrome7 tests
  • Melorheostosis3 tests
  • MEND syndrome1 test
  • Meningioma, familial9 tests
  • Menke-Hennekam syndrome 12 tests
  • Menke-Hennekam syndrome 22 tests
  • Menkes kinky-hair syndrome9 tests
  • Mental retardation 3, X-linked7 tests
  • Mental retardation 30, X-linked2 tests
  • Mental retardation 49, X-linked3 tests
  • Mental retardation and distinctive facial features with or without cardiac defects1 test
  • Mental retardation and microcephaly with pontine and cerebellar hypoplasia2 tests
  • Mental retardation with panhypopituitarism, X-linked1 test
  • Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance1 test
  • Mental retardation, autosomal dominant 12 tests
  • Mental retardation, autosomal dominant 135 tests
  • Mental retardation, autosomal dominant 142 tests
  • Mental retardation, autosomal dominant 152 tests
  • Mental retardation, autosomal dominant 162 tests
  • Mental retardation, autosomal dominant 181 test
  • Mental retardation, autosomal dominant 193 tests
  • Mental retardation, autosomal dominant 231 test
  • Mental retardation, autosomal dominant 242 tests
  • Mental retardation, autosomal dominant 271 test
  • Mental retardation, autosomal dominant 292 tests
  • Mental retardation, autosomal dominant 312 tests
  • Mental retardation, autosomal dominant 352 tests
  • Mental retardation, autosomal dominant 362 tests
  • Mental retardation, autosomal dominant 381 test
  • Mental retardation, autosomal dominant 412 tests
  • Mental retardation, autosomal dominant 422 tests
  • Mental retardation, autosomal dominant 51 test
  • Mental retardation, autosomal dominant 63 tests
  • Mental retardation, autosomal dominant 73 tests
  • Mental retardation, autosomal recessive 123 tests
  • Mental retardation, autosomal recessive 134 tests
  • Mental retardation, autosomal recessive 152 tests
  • Mental retardation, autosomal recessive 341 test
  • Mental retardation, autosomal recessive 372 tests
  • Mental retardation, autosomal recessive 401 test
  • Mental retardation, autosomal recessive 412 tests
  • Mental retardation, autosomal recessive 423 tests
  • Mental retardation, autosomal recessive 461 test
  • Mental retardation, autosomal recessive 534 tests
  • Mental retardation, autosomal recessive 551 test
  • Mental retardation, autosomal recessive 72 tests
  • Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma3 tests
  • Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations3 tests
  • Mental retardation, syndromic 14, X-linked1 test
  • Mental retardation, syndromic, Claes-Jensen type, X-linked2 tests
  • Mental retardation, with or without seizures, ARX-related, X-linked6 tests
  • Mental retardation, X-linked 13 tests
  • Mental retardation, X-linked 1021 test
  • Mental retardation, X-linked 194 tests
  • Mental retardation, X-linked 722 tests
  • Mental retardation, X-linked 931 test
  • Mental retardation, X-linked 981 test
  • Mental retardation, X-linked, syndromic 133 tests
  • Mental retardation, X-linked, syndromic 341 test
  • Mental retardation, X-linked, syndromic, Hedera type6 tests
  • Mental retardation, X-linked, syndromic, Raymond type1 test
  • Mental retardation, X-linked, syndromic, wu type2 tests
  • Meretoja syndrome1 test
  • Merosin deficient congenital muscular dystrophy9 tests
  • Mesoaxial synostotic syndactyly with phalangeal reduction1 test
  • Mesothelioma, malignant7 tests
  • Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression4 tests
  • Metabolic myopathy2 tests
  • Metabolic syndrome X3 tests
  • Metachondromatosis4 tests
  • Metachromatic leukodystrophy11 tests
  • Metaphyseal anadysplasia 22 tests
  • Metaphyseal chondrodysplasia, Jansen type2 tests
  • Metaphyseal chondrodysplasia, McKusick type7 tests
  • Metaphyseal chondrodysplasia, Schmid type2 tests
  • Metaphyseal chondrodysplasia, Spahr type2 tests
  • Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly1 test
  • Metaphyseal dysplasia without hypotrichosis6 tests
  • Metatrophic dysplasia5 tests
  • Methemoglobinemia type 41 test
  • Methylcobalamin deficiency type cblG9 tests
  • Methylcrotonyl-CoA carboxylase deficiency2 tests
  • Methylmalonate semialdehyde dehydrogenase deficiency5 tests
  • Methylmalonic acidemia2 tests
  • Methylmalonic acidemia with homocystinuria cblD9 tests
  • Methylmalonic acidemia with homocystinuria, type cblJ7 tests
  • Methylmalonic aciduria and homocystinuria type cblF9 tests
  • Methylmalonic aciduria due to transcobalamin receptor defect6 tests
  • METHYLMALONIC ACIDURIA, mut(0) TYPE1 test
  • Methylmalonyl-CoA epimerase deficiency8 tests
  • Mevalonic aciduria7 tests
  • Microangiopathy and leukoencephalopathy, pontine, autosomal dominant8 tests
  • Microcephalic osteodysplastic dysplasia, Saul-Wilson type2 tests
  • Microcephalic osteodysplastic primordial dwarfism type II1 test
  • Microcephaly 19, primary, autosomal recessive2 tests
  • Microcephaly and chorioretinopathy, autosomal recessive, 13 tests
  • Microcephaly and chorioretinopathy, autosomal recessive, 22 tests
  • Microcephaly and chorioretinopathy, autosomal recessive, 31 test
  • Microcephaly with mental retardation and digital anomalies1 test
  • Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation2 tests
  • Microcephaly, congenital cataract, and psoriasiform dermatitis2 tests
  • Microcephaly, epilepsy, and diabetes syndrome4 tests
  • Microcephaly, growth restriction, and increased sister chromatid exchange 21 test
  • Microcephaly, normal intelligence and immunodeficiency9 tests
  • Microcephaly, postnatal progressive, with seizures and brain atrophy3 tests
  • Microcephaly, short stature, and impaired glucose metabolism 13 tests
  • Microcephaly, short stature, and limb abnormalities1 test
  • Microcephaly, short stature, and polymicrogyria with or without seizures2 tests
  • Microcephaly-capillary malformation syndrome2 tests
  • Microcephaly-micromelia syndrome1 test
  • Microcornea, myopic chorioretinal atrophy, and telecanthus1 test
  • Microphthalmia2 tests
  • Microphthalmia with brain and digit anomalies5 tests
  • Microphthalmia with limb anomalies1 test
  • Microphthalmia, isolated 22 tests
  • Microphthalmia, isolated 31 test
  • Microphthalmia, isolated 45 tests
  • Microphthalmia, isolated 53 tests
  • Microphthalmia, isolated 62 tests
  • Microphthalmia, isolated 81 test
  • Microphthalmia, isolated, with coloboma 101 test
  • Microphthalmia, isolated, with coloboma 32 tests
  • Microphthalmia, isolated, with coloboma 53 tests
  • Microphthalmia, isolated, with coloboma 65 tests
  • Microspherophakia3 tests
  • Microvascular complications of diabetes 31 test
  • Microvascular complications of diabetes 44 tests
  • Microvascular complications of diabetes 71 test
  • Migraine1 test
  • Miller syndrome1 test
  • Minicore myopathy with external ophthalmoplegia6 tests
  • Mirage syndrome1 test
  • Mitchell syndrome5 tests
  • Mitchell-Riley syndrome1 test
  • mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency6 tests
  • Mitochondrial complex 1 deficiency, nuclear type 102 tests
  • Mitochondrial complex 1 deficiency, nuclear type 112 tests
  • Mitochondrial complex 1 deficiency, nuclear type 122 tests
  • Mitochondrial complex 1 deficiency, nuclear type 132 tests
  • Mitochondrial complex 1 deficiency, nuclear type 142 tests
  • Mitochondrial complex 1 deficiency, nuclear type 152 tests
  • Mitochondrial complex 1 deficiency, nuclear type 162 tests
  • Mitochondrial complex 1 deficiency, nuclear type 172 tests
  • Mitochondrial complex 1 deficiency, nuclear type 182 tests
  • Mitochondrial complex 1 deficiency, nuclear type 192 tests
  • Mitochondrial complex 1 deficiency, nuclear type 22 tests
  • Mitochondrial complex 1 deficiency, nuclear type 213 tests
  • Mitochondrial complex 1 deficiency, nuclear type 222 tests
  • Mitochondrial complex 1 deficiency, nuclear type 232 tests
  • Mitochondrial complex 1 deficiency, nuclear type 242 tests
  • Mitochondrial complex 1 deficiency, nuclear type 252 tests
  • Mitochondrial complex 1 deficiency, nuclear type 262 tests
  • Mitochondrial complex 1 deficiency, nuclear type 272 tests
  • Mitochondrial complex 1 deficiency, nuclear type 281 test
  • Mitochondrial complex 1 deficiency, nuclear type 292 tests
  • Mitochondrial complex 1 deficiency, nuclear type 32 tests
  • Mitochondrial complex 1 deficiency, nuclear type 302 tests
  • Mitochondrial complex 1 deficiency, nuclear type 311 test
  • Mitochondrial complex 1 deficiency, nuclear type 322 tests
  • Mitochondrial complex 1 deficiency, nuclear type 331 test
  • Mitochondrial complex 1 deficiency, nuclear type 42 tests
  • Mitochondrial complex 1 deficiency, nuclear type 52 tests
  • Mitochondrial complex 1 deficiency, nuclear type 62 tests
  • Mitochondrial complex 1 deficiency, nuclear type 72 tests
  • Mitochondrial complex 1 deficiency, nuclear type 82 tests
  • Mitochondrial complex 1 deficiency, nuclear type 92 tests
  • Mitochondrial complex 4 deficiency, nuclear type 102 tests
  • Mitochondrial complex 4 deficiency, nuclear type 112 tests
  • Mitochondrial complex 4 deficiency, nuclear type 122 tests
  • Mitochondrial complex 4 deficiency, nuclear type 141 test
  • Mitochondrial complex 4 deficiency, nuclear type 152 tests
  • Mitochondrial complex 4 deficiency, nuclear type 211 test
  • Mitochondrial complex 4 deficiency, nuclear type 32 tests
  • Mitochondrial complex 4 deficiency, nuclear type 42 tests
  • Mitochondrial complex 4 deficiency, nuclear type 72 tests
  • Mitochondrial complex 4 deficiency, nuclear type 82 tests
  • Mitochondrial complex I deficiency, nuclear type 12 tests
  • Mitochondrial complex II deficiency, nuclear type 16 tests
  • Mitochondrial complex III deficiency, nuclear type 13 tests
  • Mitochondrial complex III deficiency, nuclear type 23 tests
  • Mitochondrial complex III deficiency, nuclear type 31 test
  • Mitochondrial complex III deficiency, nuclear type 41 test
  • Mitochondrial complex III deficiency, nuclear type 52 tests
  • Mitochondrial complex III deficiency, nuclear type 62 tests
  • Mitochondrial complex III deficiency, nuclear type 71 test
  • Mitochondrial complex III deficiency, nuclear type 83 tests
  • Mitochondrial complex III deficiency, nuclear type 91 test
  • Mitochondrial complex IV deficiency4 tests
  • Mitochondrial DNA depletion syndrome2 tests
  • Mitochondrial DNA depletion syndrome 1 (MNGIE type)12 tests
  • Mitochondrial DNA depletion syndrome 111 test
  • Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant2 tests
  • Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive2 tests
  • Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)5 tests
  • Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)4 tests
  • Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)1 test
  • Mitochondrial DNA depletion syndrome 16 (hepatic type)4 tests
  • Mitochondrial DNA depletion syndrome 181 test
  • Mitochondrial DNA depletion syndrome 29 tests
  • Mitochondrial DNA depletion syndrome 4B, MNGIE type10 tests
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)10 tests
  • Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)9 tests
  • Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy3 tests
  • Mitochondrial DNA-depletion syndrome 3, hepatocerebral5 tests
  • Mitochondrial myopathy2 tests
  • Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy4 tests
  • Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome2 tests
  • Mitochondrial myopathy-lactic acidosis-deafness syndrome1 test
  • Mitochondrial phosphate carrier deficiency1 test
  • Mitochondrial pyruvate carrier deficiency3 tests
  • Mitochondrial short-chain enoyl-coa hydratase 1 deficiency5 tests
  • Mitochondrial trifunctional protein deficiency8 tests
  • Mitral valve prolapse 21 test
  • Miyoshi muscular dystrophy 15 tests
  • Miyoshi muscular dystrophy 36 tests
  • MKS1-Related Disorders2 tests
  • Molybdenum cofactor deficiency, complementation group A8 tests
  • Molybdenum cofactor deficiency, complementation group B7 tests
  • Molybdenum cofactor deficiency, complementation group C8 tests
  • Monocarboxylate transporter 1 deficiency4 tests
  • Mononeuropathy of the median nerve, mild4 tests
  • Monosomy 217 tests
  • Morbid obesity and spermatogenic failure3 tests
  • MORM syndrome3 tests
  • Morquio syndrome1 test
  • Mowat-Wilson syndrome3 tests
  • Moyamoya disease1 test
  • Moyamoya disease 22 tests
  • Moyamoya disease 51 test
  • Moyamoya disease 6 with achalasia2 tests
  • MPDU1-CDG2 tests
  • MPI-CDG3 tests
  • MTHFR deficiency, thermolabile type1 test
  • Mucocutaneous ulceration, chronic3 tests
  • Mucolipidosis2 tests
  • Mucolipidosis type II7 tests
  • Mucolipidosis type III gamma5 tests
  • Mucolipidosis type IV7 tests
  • Mucopolysaccharidosis3 tests
  • Mucopolysaccharidosis type 13 tests
  • Mucopolysaccharidosis type 67 tests
  • Mucopolysaccharidosis type 77 tests
  • Mucopolysaccharidosis, MPS-I-H/S9 tests
  • Mucopolysaccharidosis, MPS-I-S8 tests
  • Mucopolysaccharidosis, MPS-II9 tests
  • Mucopolysaccharidosis, MPS-III-A11 tests
  • Mucopolysaccharidosis, MPS-III-B11 tests
  • Mucopolysaccharidosis, MPS-III-C11 tests
  • Mucopolysaccharidosis, MPS-III-D8 tests
  • Mucopolysaccharidosis, MPS-IV-A5 tests
  • Mucopolysaccharidosis, MPS-IV-B10 tests
  • Mucopolysaccharidosis-plus syndrome3 tests
  • Mucosa-associated lymphoma2 tests
  • Muenke syndrome4 tests
  • Muir-Torré syndrome14 tests
  • Mulibrey nanism syndrome1 test
  • Mullegama-Klein-Martinez syndrome2 tests
  • Mullerian aplasia and hyperandrogenism1 test
  • Multicentric carpo-tarsal osteolysis with or without nephropathy1 test
  • Multicentric osteolysis, nodulosis and arthropathy2 tests
  • Multiple acyl-CoA dehydrogenase deficiency15 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 13 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 24 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 32 tests
  • Multiple congenital exostosis5 tests
  • Multiple cutaneous and mucosal venous malformations1 test
  • Multiple endocrine neoplasia2 tests
  • Multiple endocrine neoplasia, type 110 tests
  • Multiple endocrine neoplasia, type 25 tests
  • Multiple endocrine neoplasia, type 2a6 tests
  • Multiple endocrine neoplasia, type 2b5 tests
  • Multiple endocrine neoplasia, type 42 tests
  • Multiple epiphyseal dysplasia 12 tests
  • Multiple epiphyseal dysplasia 64 tests
  • Multiple epiphyseal dysplasia type 43 tests
  • Multiple epiphyseal dysplasia type 52 tests
  • Multiple exostoses type 24 tests
  • Multiple fibrofolliculomas1 test
  • Multiple gastrointestinal atresias6 tests
  • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects4 tests
  • Multiple mitochondrial dysfunctions syndrome 16 tests
  • Multiple mitochondrial dysfunctions syndrome 26 tests
  • Multiple mitochondrial dysfunctions syndrome 36 tests
  • Multiple mitochondrial dysfunctions syndrome 46 tests
  • Multiple mitochondrial dysfunctions syndrome 53 tests
  • Multiple mitochondrial dysfunctions syndrome 61 test
  • Multiple myeloma6 tests
  • Multiple sclerosis, susceptibility to, 53 tests
  • Multiple self-healing squamous epithelioma8 tests
  • Multiple sulfatase deficiency9 tests
  • Multiple synostoses syndrome 22 tests
  • Multiple synostoses syndrome 32 tests
  • Multiple synostoses syndrome 44 tests
  • Multiple system atrophy5 tests
  • Multisystemic smooth muscle dysfunction syndrome1 test
  • Mungan syndrome2 tests
  • Muscle AMP deaminase deficiency5 tests
  • Muscle eye brain disease2 tests
  • Muscular dystrophy, congenital, due to integrin alpha-7 deficiency4 tests
  • Muscular dystrophy, limb-girdle, autosomal dominant 44 tests
  • Muscular dystrophy, limb-girdle, autosomal recessive 237 tests
  • Muscular dystrophy, limb-girdle, type 2y3 tests
  • Muscular dystrophy, limb-girdle, type 2z2 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 113 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 107 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 118 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 129 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 137 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 149 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 88 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 97 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A310 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 156 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 149 tests
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 129 tests
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 149 tests
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 71 test
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 88 tests
  • Mutilating keratoderma1 test
  • Myasthenia, limb-girdle, familial2 tests
  • Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency4 tests
  • Myasthenic syndrome, congenital, 145 tests
  • Myasthenic syndrome, congenital, 154 tests
  • Myasthenic syndrome, congenital, 172 tests
  • Myasthenic syndrome, congenital, 181 test
  • Myasthenic syndrome, congenital, 192 tests
  • Myasthenic syndrome, congenital, 20, presynaptic4 tests
  • Myasthenic syndrome, congenital, 21, presynaptic2 tests
  • Myasthenic syndrome, congenital, 224 tests
  • Myasthenic syndrome, congenital, 23, presynaptic5 tests
  • Myasthenic syndrome, congenital, 25, presynaptic3 tests
  • Myasthenic syndrome, congenital, 2a, slow-channel2 tests
  • Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency2 tests
  • Myasthenic syndrome, congenital, 3a, slow-channel2 tests
  • Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency2 tests
  • Myasthenic syndrome, congenital, 4a, slow-channel2 tests
  • Myasthenic syndrome, congenital, 4b, fast-channel2 tests
  • Myasthenic syndrome, congenital, 7, presynaptic2 tests
  • Myasthenic syndrome, congenital, 82 tests
  • Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency2 tests
  • Mycobacterial and viral infections, susceptibility to, autosomal recessive6 tests
  • Mycobacterium tuberculosis, susceptibility to3 tests
  • Myd88 deficiency2 tests
  • Myelodysplastic syndrome13 tests
  • Myeloid leukemia2 tests
  • Myeloproliferative disorder, chronic, with eosinophilia1 test
  • MYH-associated polyposis6 tests
  • MYH7-related late-onset scapuloperoneal muscular dystrophy7 tests
  • Myhre syndrome4 tests
  • Myocardial infarction 13 tests
  • Myoclonic dystonia 113 tests
  • Myoclonic epilepsy, familial infantile4 tests
  • Myoclonic-atonic epilepsy2 tests
  • Myoclonus, familial, 23 tests
  • Myoclonus, intractable, neonatal6 tests
  • Myofibrillar myopathy 111 tests
  • Myofibrillar myopathy 34 tests
  • Myofibrillar myopathy, BAG3-related10 tests
  • Myofibrillar myopathy, filamin C-related8 tests
  • Myofibrillar myopathy, ZASP-related2 tests
  • Myoglobinuria, acute recurrent, autosomal recessive2 tests
  • Myopathy2 tests
  • Myopathy with extrapyramidal signs4 tests
  • Myopathy with lactic acidosis, hereditary5 tests
  • Myopathy with postural muscle atrophy, X-linked7 tests
  • Myopathy, areflexia, respiratory distress, and dysphagia, early-onset3 tests
  • Myopathy, centronuclear, 16 tests
  • Myopathy, centronuclear, 23 tests
  • Myopathy, centronuclear, 43 tests
  • Myopathy, centronuclear, 53 tests
  • Myopathy, centronuclear, 6, with fiber-type disproportion4 tests
  • Myopathy, congenital, compton-north3 tests
  • Myopathy, congenital, with structured cores and z-line abnormalities6 tests
  • Myopathy, distal, 17 tests
  • Myopathy, distal, 48 tests
  • Myopathy, distal, 6, adult-onset, autosomal dominant6 tests
  • Myopathy, distal, with anterior tibial onset5 tests
  • Myopathy, early-onset, with fatal cardiomyopathy10 tests
  • Myopathy, epilepsy, and progressive cerebral atrophy4 tests
  • Myopathy, isolated mitochondrial, autosomal dominant6 tests
  • Myopathy, lactic acidosis, and sideroblastic anemia 12 tests
  • Myopathy, lactic acidosis, and sideroblastic anemia 23 tests
  • Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay1 test
  • Myopathy, myofibrillar, 83 tests
  • Myopathy, myofibrillar, 9, with early respiratory failure10 tests
  • Myopathy, myosin storage, autosomal recessive7 tests
  • Myopathy, proximal, and ophthalmoplegia2 tests
  • Myopathy, reducing body, X-linked, childhood-onset7 tests
  • Myopathy, reducing body, X-linked, early-onset, severe7 tests
  • Myopathy, scapulohumeroperoneal3 tests
  • Myopathy, tubular aggregate, 17 tests
  • Myopathy, tubular aggregate, 25 tests
  • Myopathy, vacuolar, with casq1 aggregates3 tests
  • Myopia 65 tests
  • Myopia, high, with cataract and vitreoretinal degeneration1 test
  • Myosclerosis, autosomal recessive5 tests
  • Myosin storage myopathy7 tests
  • Myotonia congenita1 test
  • N-terminal acetyltransferase deficiency1 test
  • Nager syndrome1 test
  • Nail disorder, nonsyndromic congenital, 81 test
  • Nail-patella syndrome4 tests
  • Namaqualand hip dysplasia4 tests
  • Nanophthalmos 23 tests
  • Natural killer cell and glucocorticoid deficiency with DNA repair defect2 tests
  • Navajo neurohepatopathy4 tests
  • Naxos disease5 tests
  • NDE1-related microhydranencephaly1 test
  • Nemaline myopathy 13 tests
  • Nemaline myopathy 103 tests
  • Nemaline myopathy 11, autosomal recessive3 tests
  • Nemaline myopathy 27 tests
  • Nemaline myopathy 33 tests
  • Nemaline myopathy 43 tests
  • Nemaline myopathy 53 tests
  • Nemaline myopathy 63 tests
  • Nemaline myopathy 73 tests
  • Nemaline myopathy 83 tests
  • Nemaline myopathy 93 tests
  • Neonatal intrahepatic cholestasis caused by citrin deficiency9 tests
  • Neonatal pseudo-hydrocephalic progeroid syndrome3 tests
  • Neonatal severe hyperparathyroidism6 tests
  • Neoplasm of lung1 test
  • Neoplasm of ovary14 tests
  • Neoplasm of stomach3 tests
  • Nephroblastoma5 tests
  • Nephrogenic diabetes insipidus2 tests
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 12 tests
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 21 test
  • Nephronophthisis2 tests
  • Nephronophthisis 15 tests
  • Nephronophthisis 115 tests
  • Nephronophthisis 125 tests
  • Nephronophthisis 133 tests
  • Nephronophthisis 146 tests
  • Nephronophthisis 156 tests
  • Nephronophthisis 163 tests
  • Nephronophthisis 183 tests
  • Nephronophthisis 193 tests
  • Nephronophthisis 201 test
  • Nephronophthisis 35 tests
  • Nephronophthisis 43 tests
  • Nephronophthisis 72 tests
  • Nephronophthisis 81 test
  • Nephronophthisis 93 tests
  • Nephronophthisis-like nephropathy 12 tests
  • Nephropathic cystinosis4 tests
  • Nephropathy with pretibial epidermolysis bullosa and deafness2 tests
  • Nephrotic syndrome2 tests
  • Nephrotic syndrome, type 43 tests
  • Nephrotic syndrome, type 71 test
  • Nephrotic syndrome, type 93 tests
  • Netherton syndrome6 tests
  • Neu-Laxova syndrome 18 tests
  • Neu-laxova syndrome 26 tests
  • Neural tube defects, folate-sensitive14 tests
  • Neuroblastoma5 tests
  • Neuroblastoma 25 tests
  • Neuroblastoma 35 tests
  • Neurocutaneous melanocytosis3 tests
  • Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset8 tests
  • Neurodegeneration with brain iron accumulation1 test
  • Neurodegeneration with brain iron accumulation 2b7 tests
  • Neurodegeneration with brain iron accumulation 46 tests
  • Neurodegeneration with brain iron accumulation 57 tests
  • Neurodegeneration with brain iron accumulation 66 tests
  • Neurodegeneration with brain iron accumulation 73 tests
  • Neurodegeneration with brain iron accumulation 82 tests
  • Neurodevelopmental disorder and language delay with or without structural brain abnormalities1 test
  • Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity1 test
  • Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter2 tests
  • Neurodevelopmental disorder with cerebellar atrophy and with or without seizures2 tests
  • Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination1 test
  • Neurodevelopmental disorder with involuntary movements4 tests
  • Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy2 tests
  • Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features2 tests
  • Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures1 test
  • Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart1 test
  • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant2 tests
  • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive2 tests
  • Neurodevelopmental disorder with poor language and loss of hand skills2 tests
  • Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies1 test
  • Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities1 test
  • Neurodevelopmental disorder with visual defects and brain anomalies4 tests
  • Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures2 tests
  • Neuroendocrine neoplasm2 tests
  • Neuroferritinopathy5 tests
  • Neurofibromatosis, familial spinal5 tests
  • Neurofibromatosis, type 111 tests
  • Neurofibromatosis, type 27 tests
  • Neurofibromatosis-Noonan syndrome5 tests
  • Neurogenic scapuloperoneal syndrome, Kaeser type10 tests
  • Neuronal ceroid lipofuscinosis3 tests
  • Neuronal ceroid lipofuscinosis 18 tests
  • Neuronal ceroid lipofuscinosis 106 tests
  • Neuronal ceroid lipofuscinosis 310 tests
  • Neuronal ceroid lipofuscinosis 4A6 tests
  • Neuronal ceroid lipofuscinosis 4B1 test
  • Neuronal ceroid lipofuscinosis 57 tests
  • Neuronal ceroid lipofuscinosis 68 tests
  • Neuronal ceroid lipofuscinosis 77 tests
  • Neuronal ceroid lipofuscinosis 86 tests
  • Neuronopathy, distal hereditary motor, type viia4 tests
  • Neuropathy, hereditary motor and sensory, Russe type4 tests
  • Neuropathy, hereditary motor and sensory, type 6B3 tests
  • Neuropathy, hereditary sensory and autonomic, type 1A2 tests
  • Neuropathy, hereditary sensory and autonomic, type VI2 tests
  • Neuropathy, hereditary sensory and autonomic, type VII2 tests
  • Neuropathy, hereditary sensory and autonomic, type VIII2 tests
  • Neutral 1 amino acid transport defect4 tests
  • Neutral lipid storage myopathy6 tests
  • Neutropenia, nonimmune chronic idiopathic, of adults4 tests
  • Neutropenia, severe congenital 1, autosomal dominant9 tests
  • Neutropenia, severe congenital, 7, autosomal recessive4 tests
  • Neutropenia, severe congenital, 8, autosomal dominant2 tests
  • Neutrophil immunodeficiency syndrome6 tests
  • Newfoundland rod-cone dystrophy1 test
  • Nicolaides-Baraitser syndrome1 test
  • Niemann-Pick disease type C110 tests
  • Niemann-Pick disease, type A9 tests
  • Niemann-Pick disease, type B4 tests
  • Niemann-Pick disease, type C4 tests
  • Niemann-Pick disease, type C210 tests
  • Nifedipine response1 test
  • Night blindness, congenital stationary, type 1g1 test
  • Night blindness, congenital stationary, type 1h1 test
  • Night blindness, congenital stationary, type1i1 test
  • Non-acquired combined pituitary hormone deficiency with spine abnormalities3 tests
  • Non-Hodgkin lymphoma1 test
  • Non-ketotic hyperglycinemia14 tests
  • Nonmedullary thyroid carcinoma 12 tests
  • Nonsyndromic hearing loss and deafness5 tests
  • Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive1 test
  • Noonan syndrome1 test
  • Noonan syndrome 15 tests
  • Noonan syndrome 102 tests
  • Noonan syndrome 112 tests
  • Noonan syndrome 34 tests
  • Noonan syndrome 45 tests
  • Noonan syndrome 55 tests
  • Noonan syndrome 64 tests
  • Noonan syndrome 74 tests
  • Noonan syndrome 84 tests
  • Noonan syndrome 92 tests
  • Noonan syndrome with multiple lentigines1 test
  • Noonan syndrome-like disorder with loose anagen hair 15 tests
  • Noonan syndrome-like disorder with loose anagen hair 22 tests
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia5 tests
  • Norman-Roberts syndrome2 tests
  • Norum disease1 test
  • Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 13 tests
  • Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 28 tests
  • Nystagmus 6, congenital, X-linked1 test
  • Obesity3 tests
  • Obesity, hyperphagia, and developmental delay2 tests
  • Obsessive-compulsive disorder1 test
  • Occult macular dystrophy1 test
  • Ocular albinism, type I1 test
  • Ocular albinism, type II1 test
  • Ocular cystinosis4 tests
  • Oculoauricular syndrome1 test
  • Oculocutaneous albinism type 1B1 test
  • Oculocutaneous albinism type 31 test
  • Oculocutaneous albinism type 41 test
  • Oculodentodigital dysplasia6 tests
  • Oculodentodigital dysplasia, autosomal recessive6 tests
  • Oculofaciocardiodental syndrome5 tests
  • Oculomaxillofacial dysostosis1 test
  • Oculootoradial syndrome1 test
  • Odonto-onycho-dermal dysplasia1 test
  • Oguchi disease1 test
  • Ohdo syndrome, X-linked4 tests
  • Olanzapine response1 test
  • Oligodontia-colorectal cancer syndrome5 tests
  • Omeprazole response1 test
  • Opioid dependence 11 test
  • Opitz GBBB syndrome, type II1 test
  • Opsismodysplasia3 tests
  • Optic atrophy 10 with or without ataxia, mental retardation, and seizures1 test
  • Optic atrophy 111 test
  • Optic atrophy 121 test
  • Optic atrophy 36 tests
  • Optic atrophy 54 tests
  • Optic atrophy 72 tests
  • Optic atrophy 94 tests
  • Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy4 tests
  • Optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive7 tests
  • Optic nerve hypoplasia, bilateral3 tests
  • Ornithine aminotransferase deficiency8 tests
  • Ornithine carbamoyltransferase deficiency15 tests
  • Orofacial cleft2 tests
  • Orofacial cleft 115 tests
  • Orofacial cleft 51 test
  • Orofacial cleft 83 tests
  • Orofacial-digital syndrome IV6 tests
  • Orofaciodigital syndrome 162 tests
  • Orofaciodigital syndrome 182 tests
  • Orofaciodigital syndrome I8 tests
  • Orofaciodigital syndrome type 64 tests
  • Orofaciodigital syndrome V1 test
  • Orofaciodigital syndrome xiv2 tests
  • Orofaciodigital syndrome XV1 test
  • Orotic aciduria1 test
  • Orthostatic hypotension 15 tests
  • Osteoarthritis of distal interphalangeal joint1 test
  • Osteoarthritis of hip2 tests
  • Osteochondritis dissecans1 test
  • Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type1 test
  • Osteocraniostenosis2 tests
  • Osteodysplastic primordial dwarfism, type 13 tests
  • Osteofibrous dysplasia1 test
  • Osteogenesis imperfecta1 test
  • Osteogenesis imperfecta type 101 test
  • Osteogenesis imperfecta type 121 test
  • Osteogenesis imperfecta type 51 test
  • Osteogenesis imperfecta type 73 tests
  • Osteogenesis imperfecta type 83 tests
  • Osteogenesis imperfecta type 91 test
  • Osteogenesis imperfecta type I3 tests
  • Osteogenesis imperfecta type III3 tests
  • Osteogenesis imperfecta with normal sclerae, dominant form3 tests
  • Osteogenesis imperfecta, recessive perinatal lethal3 tests
  • Osteogenesis imperfecta, type 191 test
  • Osteogenesis imperfecta, type VI1 test
  • Osteogenesis imperfecta, type XI1 test
  • Osteogenesis imperfecta, type xiii1 test
  • Osteogenesis imperfecta, type xiv1 test
  • Osteogenesis imperfecta, type xv1 test
  • Osteogenesis imperfecta, type xvi1 test
  • Osteogenesis imperfecta, type xvii1 test
  • Osteoglophonic dysplasia3 tests
  • Osteomyelitis, sterile multifocal, with periostitis and pustulosis4 tests
  • Osteopathia striata with cranial sclerosis1 test
  • Osteopetrosis with renal tubular acidosis2 tests
  • Osteopetrosis, autosomal recessive 52 tests
  • Osteopetrosis, autosomal recessive 82 tests
  • Osteoporosis with pseudoglioma3 tests
  • Oto-palato-digital syndrome, type I6 tests
  • Oto-palato-digital syndrome, type II6 tests
  • Otofaciocervical syndrome 11 test
  • Otofaciocervical syndrome 22 tests
  • Otospondylomegaepiphyseal dysplasia, autosomal dominant4 tests
  • Otospondylomegaepiphyseal dysplasia, autosomal recessive4 tests
  • Ovalocytosis, southeast Asian2 tests
  • Ovarian cancer2 tests
  • OVARIAN CANCER, EPITHELIAL, SOMATIC1 test
  • Ovarian dysgenesis 31 test
  • Ovarian dysgenesis 72 tests
  • Ovarian dysgenesis 81 test
  • Overhydrated hereditary stomatocytosis1 test
  • Oxoglutaricaciduria2 tests
  • Oxycodone response1 test
  • p phenotype2 tests
  • Paget disease of bone 2, early-onset3 tests
  • Paget disease of bone 38 tests
  • Pallister-Hall syndrome3 tests
  • Palmoplantar carcinoma, multiple self-healing2 tests
  • Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal1 test
  • Palmoplantar keratoderma i, striate, focal, or diffuse3 tests
  • Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked1 test
  • Palmoplantar keratoderma-deafness syndrome1 test
  • Pancreatic agenesis 12 tests
  • Pancreatic agenesis 22 tests
  • Pancreatic agenesis and congenital heart disease2 tests
  • Pancreatic cancer 23 tests
  • Pancreatic cancer 33 tests
  • Pancreatic cancer 43 tests
  • Panhypopituitarism, X-linked1 test
  • Papillary thyroid carcinoma3 tests
  • Papillon-Lefèvre syndrome4 tests
  • Paragangliomas 19 tests
  • Paragangliomas 24 tests
  • Paragangliomas 39 tests
  • Paragangliomas 410 tests
  • Paragangliomas 59 tests
  • Paramyotonia congenita of von Eulenburg7 tests
  • Parastremmatic dwarfism5 tests
  • Parathyroid carcinoma5 tests
  • Parietal foramina 11 test
  • Parietal foramina with cleidocranial dysplasia1 test
  • Parkinson disease2 tests
  • Parkinson disease 14 tests
  • Parkinson disease 135 tests
  • Parkinson disease 147 tests
  • Parkinson disease 152 tests
  • Parkinson disease 172 tests
  • Parkinson disease 19a, juvenile-onset2 tests
  • Parkinson disease 23 tests
  • Parkinson disease 20, early-onset2 tests
  • Parkinson disease 22, autosomal dominant1 test
  • Parkinson disease 23, autosomal recessive early-onset1 test
  • Parkinson disease 44 tests
  • Parkinson disease 52 tests
  • Parkinson disease 6, autosomal recessive early-onset4 tests
  • Parkinson disease 72 tests
  • Parkinson disease 8, autosomal dominant2 tests
  • Parkinson disease, late-onset5 tests
  • Parkinson-dementia syndrome4 tests
  • Parkinsonism with spasticity, X-linked5 tests
  • Parkinsonism-dystonia, infantile, 18 tests
  • Parkinsonism-dystonia, infantile, 24 tests
  • Paroxetine response1 test
  • Paroxysmal extreme pain disorder3 tests
  • Paroxysmal familial ventricular fibrillation 17 tests
  • Paroxysmal nocturnal hemoglobinuria 15 tests
  • Paroxysmal nocturnal hemoglobinuria 22 tests
  • Paroxysmal nonkinesigenic dyskinesia 13 tests
  • Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy3 tests
  • Partial albinism1 test
  • Partial androgen insensitivity syndrome1 test
  • Partial deletion of the long arm of chromosome 117 tests
  • Partial deletion of the long arm of chromosome 27 tests
  • Partial deletion of the long arm of chromosome 48 tests
  • Partial deletion of the long arm of chromosome 68 tests
  • Partial deletion of the long arm of chromosome 88 tests
  • Partial deletion of the short arm of chromosome 18 tests
  • Partial duplication of the long arm of chromosome 126 tests
  • Partial duplication of the long arm of chromosome 157 tests
  • Partial duplication of the long arm of chromosome 197 tests
  • Partial duplication of the long arm of chromosome 27 tests
  • Partial duplication of the long arm of chromosome 38 tests
  • Partial duplication of the long arm of chromosome 48 tests
  • Partial duplication of the long arm of chromosome 78 tests
  • Partial duplication of the short arm of chromosome 167 tests
  • Partial duplication of the short arm of chromosome 28 tests
  • Partial duplication of the short arm of chromosome 68 tests
  • Partial duplication of the short arm of chromosome 78 tests
  • Partial hypoxanthine-guanine phosphoribosyltransferase deficiency5 tests
  • Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome1 test
  • Partial monosomy of the long arm of chromosome 107 tests
  • Partial trisomy of the long arm of chromosome 167 tests
  • Partial trisomy of the long arm of chromosome 187 tests
  • Partial trisomy of the long arm of chromosome 57 tests
  • Partington syndrome6 tests
  • Patent ductus arteriosus 21 test
  • Peeling skin syndrome 11 test
  • PEHO-like syndrome2 tests
  • Pelger-Huët anomaly1 test
  • Pelizaeus-Merzbacher disease4 tests
  • Pelviscapular dysplasia2 tests
  • Pena-Shokeir syndrome type I2 tests
  • Pendred syndrome10 tests
  • PERCHING syndrome1 test
  • Periodontitis, aggressive, 14 tests
  • Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease2 tests
  • Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development3 tests
  • Peripheral neuropathy, myopathy, hoarseness, and hearing loss1 test
  • Periventricular nodular heterotopia 16 tests
  • Periventricular nodular heterotopia 61 test
  • Periventricular nodular heterotopia 73 tests
  • Perlman syndrome6 tests
  • Permanent neonatal diabetes mellitus 12 tests
  • Permanent neonatal diabetes mellitus 22 tests
  • Permanent neonatal diabetes mellitus 32 tests
  • Permanent neonatal diabetes mellitus 41 test
  • Peroxisomal acyl-CoA oxidase deficiency7 tests
  • Peroxisomal fatty acyl-coa reductase 1 disorder2 tests
  • Peroxisome biogenesis disorder 10A10 tests
  • Peroxisome biogenesis disorder 10b9 tests
  • Peroxisome biogenesis disorder 11A10 tests
  • Peroxisome biogenesis disorder 11B9 tests
  • Peroxisome biogenesis disorder 12A10 tests
  • Peroxisome biogenesis disorder 13A10 tests
  • Peroxisome biogenesis disorder 14B8 tests
  • Peroxisome biogenesis disorder 1A (Zellweger)10 tests
  • Peroxisome biogenesis disorder 1B9 tests
  • Peroxisome biogenesis disorder 2A (Zellweger)12 tests
  • Peroxisome biogenesis disorder 2B10 tests
  • Peroxisome biogenesis disorder 3A10 tests
  • Peroxisome biogenesis disorder 4a (zellweger)12 tests
  • Peroxisome biogenesis disorder 4B11 tests
  • Peroxisome biogenesis disorder 5a (zellweger)10 tests
  • Peroxisome biogenesis disorder 5B9 tests
  • Peroxisome biogenesis disorder 6A10 tests
  • Peroxisome biogenesis disorder 6B9 tests
  • Peroxisome biogenesis disorder 7A10 tests
  • Peroxisome biogenesis disorder 7B9 tests
  • Peroxisome biogenesis disorder 8A10 tests
  • Peroxisome biogenesis disorder 8B9 tests
  • Peroxisome biogenesis disorder 9B7 tests
  • Peroxisome biogenesis disorder type 3B9 tests
  • Peroxisome biogenesis disorders1 test
  • Peroxisome biogenesis disorders, Zellweger syndrome spectrum1 test
  • Perrault syndrome 15 tests
  • Perrault syndrome 22 tests
  • Perrault syndrome 33 tests
  • Perrault syndrome 43 tests
  • Perrault syndrome 56 tests
  • Perry syndrome8 tests
  • Persistent hyperplastic primary vitreous, autosomal recessive2 tests
  • Persistent Mullerian duct syndrome1 test
  • Persistent polyclonal B-cell lymphocytosis1 test
  • Persistent pulmonary hypertension of the newborn1 test
  • Peters plus syndrome4 tests
  • Pettigrew syndrome1 test
  • Peutz-Jeghers syndrome13 tests
  • Pfeiffer syndrome4 tests
  • Phenylketonuria7 tests
  • Pheochromocytoma10 tests
  • Phosphate transport defect11 tests
  • Phosphoenolpyruvate carboxykinase deficiency, cytosolic4 tests
  • Phosphoenolpyruvate carboxykinase deficiency, mitochondrial3 tests
  • Phosphoglycerate dehydrogenase deficiency11 tests
  • Phosphoglycerate kinase 1 deficiency4 tests
  • Phosphoribosylpyrophosphate synthetase superactivity8 tests
  • Phosphoserine aminotransferase deficiency7 tests
  • Phytanic acid storage disease9 tests
  • Pick disease5 tests
  • Pierpont syndrome2 tests
  • Pigmentary disorder, reticulate, with systemic manifestations, X-linked4 tests
  • Pigmentary pallidal degeneration8 tests
  • Pigmentary retinal dystrophy1 test
  • Pigmented nodular adrenocortical disease, primary, 13 tests
  • Pigmented nodular adrenocortical disease, primary, 31 test
  • Pigmented paravenous chorioretinal atrophy1 test
  • Pili torti-deafness syndrome3 tests
  • Pilomatrixoma3 tests
  • Pineal hyperplasia AND diabetes mellitus syndrome1 test
  • Pitt-Hopkins syndrome3 tests
  • Pitt-Hopkins-like syndrome 13 tests
  • Pitt-Hopkins-like syndrome 23 tests
  • Pituitary adenoma 3, multiple types4 tests
  • Pituitary adenoma 5, multiple types3 tests
  • Pituitary adenoma, growth hormone-secreting, 21 test
  • Pituitary hormone deficiency, combined2 tests
  • Pituitary hormone deficiency, combined 24 tests
  • Pituitary hormone deficiency, combined 62 tests
  • Pityriasis rubra pilaris3 tests
  • Plasminogen deficiency, type I2 tests
  • Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease5 tests
  • Platyspondylic dysplasia, Torrance type4 tests
  • Pleuropulmonary blastoma5 tests
  • Pneumothorax, primary spontaneous1 test
  • Poikiloderma with neutropenia2 tests
  • Polyagglutinable erythrocyte syndrome2 tests
  • Polyarteritis nodosa, childhoood-onset4 tests
  • Polycystic kidney disease3 tests
  • Polycystic kidney disease 23 tests
  • Polycystic kidney disease 33 tests
  • Polycystic kidney disease 42 tests
  • Polycystic kidney disease 51 test
  • Polycystic kidney disease 6 with or without polycystic liver disease1 test
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 13 tests
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 24 tests
  • Polycystic liver disease 13 tests
  • Polycystic liver disease 23 tests
  • Polycystic liver disease 3 with or without kidney cysts3 tests
  • Polycystic liver disease 4 with or without kidney cysts3 tests
  • Polydactyly, preaxial II1 test
  • Polyendocrine-polyneuropathy syndrome3 tests
  • Polyglandular autoimmune syndrome, type 15 tests
  • Polyglucosan body myopathy1 test
  • Polyglucosan body myopathy 1 with or without immunodeficiency6 tests
  • Polyglucosan body myopathy 25 tests
  • Polyhydramnios, megalencephaly, and symptomatic epilepsy2 tests
  • Polymicrogyria2 tests
  • Polymicrogyria with optic nerve hypoplasia2 tests
  • Polymicrogyria with or without vascular-type ehlers-danlos syndrome3 tests
  • Polymicrogyria, asymmetric1 test
  • Polymicrogyria, bilateral frontoparietal2 tests
  • Polymicrogyria, bilateral perisylvian, autosomal recessive2 tests
  • Polymicrogyria, bilateral temporooccipital7 tests
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract3 tests
  • Pontocerebellar hypoplasia type 1A5 tests
  • Pontocerebellar hypoplasia type 2A3 tests
  • Pontocerebellar hypoplasia type 2B1 test
  • Pontocerebellar hypoplasia type 2C1 test
  • Pontocerebellar hypoplasia type 2D2 tests
  • Pontocerebellar hypoplasia type 31 test
  • Pontocerebellar hypoplasia type 43 tests
  • Pontocerebellar hypoplasia type 53 tests
  • Pontocerebellar hypoplasia type 64 tests
  • Pontocerebellar hypoplasia type 81 test
  • Pontocerebellar hypoplasia, type 101 test
  • Pontocerebellar hypoplasia, type 126 tests
  • Pontocerebellar hypoplasia, type 1b1 test
  • Pontocerebellar hypoplasia, type 1d2 tests
  • Pontocerebellar hypoplasia, type 72 tests
  • Pontocerebellar hypoplasia, type 92 tests
  • Pontoneocerebellar hypoplasia2 tests
  • Porencephaly 23 tests
  • Poretti-Boltshauser syndrome2 tests
  • Porokeratosis 3, disseminated superficial actinic type8 tests
  • Porphobilinogen synthase deficiency3 tests
  • Porphyria1 test
  • Portal hypertension, noncirrhotic5 tests
  • Postaxial polydactyly type A13 tests
  • Posterior column ataxia-retinitis pigmentosa syndrome1 test
  • Postmenopausal osteoporosis5 tests
  • Potassium-aggravated myotonia7 tests
  • Prader-Willi syndrome1 test
  • Preaxial polydactyly 43 tests
  • Pregnancy loss, recurrent, susceptibility to, 11 test
  • Pregnancy loss, recurrent, susceptibility to, 21 test
  • Premature aging syndrome, Penttinen type1 test
  • Premature ovarian failure 111 test
  • Premature ovarian failure 71 test
  • Preterm premature rupture of membranes1 test
  • Pretibial epidermolysis bullosa1 test
  • Primary adrenocortical insufficiency2 tests
  • Primary aldosteronism, seizures, and neurologic abnormalities4 tests
  • Primary autosomal recessive microcephaly 11 test
  • Primary autosomal recessive microcephaly 101 test
  • Primary autosomal recessive microcephaly 151 test
  • Primary autosomal recessive microcephaly 22 tests
  • Primary autosomal recessive microcephaly 52 tests
  • Primary autosomal recessive microcephaly 61 test
  • Primary autosomal recessive microcephaly 71 test
  • Primary autosomal recessive microcephaly 81 test
  • Primary autosomal recessive microcephaly 91 test
  • Primary ciliary dyskinesia4 tests
  • Primary ciliary dyskinesia 233 tests
  • Primary ciliary dyskinesia 244 tests
  • Primary ciliary dyskinesia 254 tests
  • Primary dilated cardiomyopathy2 tests
  • Primary erythromelalgia3 tests
  • Primary familial dilated cardiomyopathy1 test
  • Primary hyperoxaluria1 test
  • Primary hyperoxaluria, type I4 tests
  • Primary hyperoxaluria, type II4 tests
  • Primary hyperoxaluria, type III3 tests
  • Primary hypertrophic osteoarthropathy, autosomal recessive 21 test
  • Primary hypomagnesemia3 tests
  • Primary open angle glaucoma2 tests
  • Primary pulmonary hypertension 13 tests
  • Primary pulmonary hypertension 21 test
  • Primary pulmonary hypertension 31 test
  • Primary pulmonary hypertension 41 test
  • Progressive bulbar palsy of childhood9 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 62 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 110 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 21 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 39 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 45 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 51 test
  • Progressive familial heart block type IB2 tests
  • Progressive familial heart block, type 1A6 tests
  • Progressive familial intrahepatic cholestasis 22 tests
  • Progressive familial intrahepatic cholestasis 31 test
  • Progressive familial intrahepatic cholestasis 41 test
  • Progressive myoclonus epilepsy with ataxia1 test
  • Progressive myositis ossificans2 tests
  • Progressive osseous heteroplasia4 tests
  • Progressive pseudorheumatoid dysplasia1 test
  • Progressive sclerosing poliodystrophy10 tests
  • Progressive supranuclear ophthalmoplegia2 tests
  • Prolidase deficiency2 tests
  • Proline dehydrogenase deficiency3 tests
  • Proopiomelanocortin deficiency2 tests
  • Properdin deficiency, X-linked1 test
  • Propionic acidemia15 tests
  • Proprotein convertase 1/3 deficiency2 tests
  • Prostate cancer, hereditary, 24 tests
  • Prostate cancer/brain cancer susceptibility2 tests
  • Proteasome-associated autoinflammatory syndrome 14 tests
  • Proteasome-associated autoinflammatory syndrome 23 tests
  • Proteasome-associated autoinflammatory syndrome 33 tests
  • Protein-losing enteropathy4 tests
  • Proteinuria, chronic benign4 tests
  • Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis1 test
  • Proteus syndrome2 tests
  • Proteus-like syndrome9 tests
  • Protoporphyria, erythropoietic, 13 tests
  • Protoporphyria, erythropoietic, 22 tests
  • Protoporphyria, erythropoietic, X-linked4 tests
  • Pseudo-Hurler polydystrophy5 tests
  • Pseudo-TORCH syndrome 11 test
  • Pseudo-TORCH syndrome 32 tests
  • Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome1 test
  • Pseudohypoaldosteronism type 2C2 tests
  • Pseudohypoparathyroidism4 tests
  • Pseudohypoparathyroidism type 1B4 tests
  • Pseudohypoparathyroidism type 1C4 tests
  • Pseudohypoparathyroidism type I A1 test
  • Pseudopseudohypoparathyroidism4 tests
  • Pseudoxanthoma elasticum5 tests
  • Pseudoxanthoma elasticum, forme fruste1 test
  • Psoriasis susceptibility 132 tests
  • Psoriasis susceptibility 23 tests
  • Psoriasis susceptibility 71 test
  • Psoriatic arthritis, susceptibility to1 test
  • Psychomotor retardation, epilepsy, and craniofacial dysmorphism2 tests
  • PTEN hamartoma tumor syndrome13 tests
  • PULMONARY ALVEOLAR MICROLITHIASIS1 test
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 15 tests
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 21 test
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 37 tests
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 44 tests
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 51 test
  • Pulmonary hypertension, neonatal, susceptibility to10 tests
  • Pulmonary venoocclusive disease 1, autosomal dominant1 test
  • Purine-nucleoside phosphorylase deficiency8 tests
  • Pustular psoriasis, generalized3 tests
  • Pyknodysostosis5 tests
  • Pyle metaphyseal dysplasia1 test
  • Pyogenic arthritis-pyoderma gangrenosum-acne syndrome4 tests
  • Pyridoxal phosphate-responsive seizures7 tests
  • Pyridoxine-dependent epilepsy6 tests
  • Pyruvate carboxylase deficiency8 tests
  • Pyruvate dehydrogenase complex deficiency2 tests
  • Pyruvate dehydrogenase E1-alpha deficiency6 tests
  • Pyruvate dehydrogenase E1-beta deficiency6 tests
  • Pyruvate dehydrogenase E2 deficiency6 tests
  • Pyruvate dehydrogenase E3-binding protein deficiency6 tests
  • Pyruvate dehydrogenase lipoic acid synthetase deficiency8 tests
  • Pyruvate dehydrogenase phosphatase deficiency6 tests
  • Pyruvate kinase deficiency of red cells1 test
  • Radial aplasia-thrombocytopenia syndrome1 test
  • Rajab interstitial lung disease with brain calcifications 11 test
  • Rapadilino syndrome5 tests
  • RAPH BLOOD GROUP SYSTEM2 tests
  • Rapp-Hodgkin ectodermal dysplasia syndrome3 tests
  • RAS-associated autoimmune leukoproliferative disorder3 tests
  • Rasburicase response1 test
  • Rasopathy3 tests
  • Recessive dystrophic epidermolysis bullosa1 test
  • Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome4 tests
  • Regressive spondylometaphyseal dysplasia1 test
  • Renal carnitine transport defect14 tests
  • Renal cell carcinoma, nonpapillary9 tests
  • Renal cell carcinoma, papillary, 16 tests
  • Renal coloboma syndrome4 tests
  • Renal cysts and diabetes syndrome4 tests
  • Renal dysplasia1 test
  • Renal dysplasia and retinal aplasia4 tests
  • Renal dysplasia, cystic, susceptibility to1 test
  • Renal hamartoma1 test
  • Renal hypodysplasia/aplasia 11 test
  • Renal hypomagnesemia 22 tests
  • Renal hypouricemia 21 test
  • Renal tubular acidosis with progressive nerve deafness4 tests
  • Renal tubular acidosis, distal, autosomal recessive1 test
  • Renal tubular acidosis, distal, with hemolytic anemia2 tests
  • Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation1 test
  • Renal-hepatic-pancreatic dysplasia 14 tests
  • Renal-hepatic-pancreatic dysplasia 23 tests
  • Respiratory papillomatosis, juvenile recurrent, congenital2 tests
  • Reticular dysgenesis5 tests
  • Retinal arteries, tortuosity of8 tests
  • Retinal cone dystrophy 3A1 test
  • Retinal cone dystrophy 41 test
  • Retinal dystrophy and obesity1 test
  • Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities1 test
  • Retinal dystrophy with leukodystrophy4 tests
  • Retinal dystrophy with or without extraocular anomalies1 test
  • Retinal dystrophy with or without macular staphyloma2 tests
  • Retinal dystrophy, iris coloboma, and comedogenic acne syndrome1 test
  • Retinal dystrophy, juvenile cataracts, and short stature syndrome1 test
  • Retinal macular dystrophy type 21 test
  • Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations11 tests
  • Retinitis pigmentosa8 tests
  • Retinitis pigmentosa 11 test
  • Retinitis pigmentosa 102 tests
  • Retinitis pigmentosa 111 test
  • Retinitis pigmentosa 121 test
  • Retinitis pigmentosa 132 tests
  • Retinitis pigmentosa 141 test
  • Retinitis pigmentosa 154 tests
  • Retinitis pigmentosa 171 test
  • Retinitis pigmentosa 181 test
  • Retinitis pigmentosa 191 test
  • Retinitis pigmentosa 21 test
  • Retinitis pigmentosa 201 test
  • Retinitis pigmentosa 236 tests
  • Retinitis pigmentosa 253 tests
  • Retinitis pigmentosa 263 tests
  • Retinitis pigmentosa 271 test
  • Retinitis pigmentosa 283 tests
  • Retinitis pigmentosa 301 test
  • Retinitis pigmentosa 311 test
  • Retinitis pigmentosa 321 test
  • Retinitis pigmentosa 331 test
  • Retinitis pigmentosa 351 test
  • Retinitis pigmentosa 361 test
  • Retinitis pigmentosa 371 test
  • Retinitis pigmentosa 381 test
  • Retinitis pigmentosa 393 tests
  • Retinitis pigmentosa 41 test
  • Retinitis pigmentosa 401 test
  • Retinitis pigmentosa 411 test
  • Retinitis pigmentosa 421 test
  • Retinitis pigmentosa 431 test
  • Retinitis pigmentosa 441 test
  • Retinitis pigmentosa 451 test
  • Retinitis pigmentosa 462 tests
  • Retinitis pigmentosa 471 test
  • Retinitis pigmentosa 481 test
  • Retinitis pigmentosa 491 test
  • Retinitis pigmentosa 501 test
  • Retinitis pigmentosa 514 tests
  • Retinitis pigmentosa 541 test
  • Retinitis pigmentosa 554 tests
  • Retinitis pigmentosa 561 test
  • Retinitis pigmentosa 571 test
  • Retinitis pigmentosa 581 test
  • Retinitis pigmentosa 596 tests
  • Retinitis pigmentosa 601 test
  • Retinitis pigmentosa 613 tests
  • Retinitis pigmentosa 621 test
  • Retinitis pigmentosa 661 test
  • Retinitis pigmentosa 671 test
  • Retinitis pigmentosa 681 test
  • Retinitis pigmentosa 691 test
  • Retinitis pigmentosa 71 test
  • Retinitis pigmentosa 701 test
  • Retinitis pigmentosa 716 tests
  • Retinitis pigmentosa 721 test
  • Retinitis pigmentosa 738 tests
  • Retinitis pigmentosa 744 tests
  • Retinitis pigmentosa 751 test
  • Retinitis pigmentosa 7610 tests
  • Retinitis pigmentosa 771 test
  • Retinitis pigmentosa 781 test
  • Retinitis pigmentosa 794 tests
  • Retinitis pigmentosa 802 tests
  • Retinitis pigmentosa 812 tests
  • Retinitis pigmentosa 82 with or without situs inversus1 test
  • Retinitis pigmentosa 831 test
  • Retinitis pigmentosa 841 test
  • Retinitis pigmentosa 851 test
  • Retinitis pigmentosa 861 test
  • Retinitis pigmentosa 87 with choroidal involvement1 test
  • Retinitis pigmentosa 881 test
  • Retinitis pigmentosa and erythrocytic microcytosis8 tests
  • Retinitis pigmentosa with or without skeletal anomalies2 tests
  • Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness4 tests
  • Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome2 tests
  • Retinoblastoma6 tests
  • Rett syndrome5 tests
  • Rett syndrome, congenital variant4 tests
  • Revesz syndrome6 tests
  • Reynolds syndrome1 test
  • Rh-null, regulator type1 test
  • Rhabdoid tumor predisposition syndrome 16 tests
  • Rhabdoid tumor predisposition syndrome 28 tests
  • Rhabdomyosarcoma1 test
  • Rhabdomyosarcoma, embryonal, 27 tests
  • Rheumatoid arthritis7 tests
  • Rhizomelic chondrodysplasia punctata1 test
  • Rhizomelic chondrodysplasia punctata type 112 tests
  • Rhizomelic chondrodysplasia punctata type 22 tests
  • Rhizomelic chondrodysplasia punctata type 34 tests
  • Rhizomelic chondrodysplasia punctata type 510 tests
  • Rhizomelic limb shortening with dysmorphic features1 test
  • RHYNS syndrome4 tests
  • Riddle syndrome2 tests
  • Rieger syndrome2 tests
  • Rigidity and multifocal seizure syndrome, lethal neonatal2 tests
  • Ring dermoid of cornea3 tests
  • Rippling muscle disease 25 tests
  • Risperidone response1 test
  • Ritscher-Schinzel syndrome 11 test
  • Roberts-SC phocomelia syndrome4 tests
  • Robinow syndrome, autosomal dominant 13 tests
  • Robinow syndrome, autosomal dominant 23 tests
  • Robinow syndrome, autosomal dominant 33 tests
  • Robinow syndrome, autosomal recessive3 tests
  • Robinow syndrome, autosomal recessive 22 tests
  • Roifman syndrome3 tests
  • Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome4 tests
  • Rothmund-Thomson syndrome1 test
  • Rothmund-Thomson syndrome type 22 tests
  • Roussy-Lévy syndrome4 tests
  • Rubinstein-Taybi syndrome 13 tests
  • Rubinstein-Taybi syndrome 23 tests
  • Saethre-Chotzen syndrome2 tests
  • Saldino-Mainzer syndrome4 tests
  • Salla disease8 tests
  • Sandhoff disease9 tests
  • Sanfilippo syndrome1 test
  • Sarcoma4 tests
  • Sarcotubular myopathy8 tests
  • Scaphocephaly, maxillary retrusion, and mental retardation2 tests
  • Scapuloperoneal myopathy, X-linked dominant7 tests
  • Scapuloperoneal spinal muscular atrophy5 tests
  • Schaaf-Yang syndrome1 test
  • Schimke immuno-osseous dysplasia7 tests
  • Schinzel phocomelia syndrome1 test
  • Schinzel-Giedion syndrome2 tests
  • Schizencephaly3 tests
  • Schizophrenia9 tests
  • Schizophrenia 172 tests
  • Schizophrenia 42 tests
  • Schneckenbecken dysplasia3 tests
  • Schopf-Schulz-Passarge syndrome2 tests
  • Schuurs-hoeijmakers syndrome1 test
  • Schwannomatosis 19 tests
  • Schwannomatosis 22 tests
  • Schwartz-Jampel syndrome1 test
  • Sclerosing cholangitis, neonatal3 tests
  • Sclerosteosis 11 test
  • Sclerosteosis 22 tests
  • Seborrheic keratosis3 tests
  • Seckel syndrome 11 test
  • Seckel syndrome 101 test
  • Seckel syndrome 21 test
  • Seckel syndrome 41 test
  • Seckel syndrome 51 test
  • Seckel syndrome 61 test
  • Seckel syndrome 82 tests
  • Sedoheptulokinase deficiency1 test
  • Seizures, benign familial infantile, 23 tests
  • Seizures, benign familial infantile, 32 tests
  • Seizures, benign familial infantile, 53 tests
  • Seizures, cortical blindness, and microcephaly syndrome5 tests
  • Seizures, scoliosis, and macrocephaly syndrome4 tests
  • Selective tooth agenesis 11 test
  • Sengers syndrome3 tests
  • Senior-Loken syndrome 15 tests
  • Senior-Loken syndrome 43 tests
  • Senior-Loken syndrome 53 tests
  • Senior-Loken syndrome 68 tests
  • Senior-Loken syndrome 77 tests
  • Senior-Loken syndrome 85 tests
  • Senior-Loken syndrome 91 test
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis11 tests
  • Septo-optic dysplasia sequence2 tests
  • SERKAL syndrome1 test
  • Severe achondroplasia with developmental delay and acanthosis nigricans3 tests
  • Severe autosomal recessive muscular dystrophy of childhood - North African type6 tests
  • Severe combined immunodeficiency disease1 test
  • Severe combined immunodeficiency due to ADA deficiency11 tests
  • Severe combined immunodeficiency due to CARMIL2 deficiency4 tests
  • Severe combined immunodeficiency due to DCLRE1C deficiency7 tests
  • Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation3 tests
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive9 tests
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative4 tests
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive3 tests
  • Severe congenital neutropenia2 tests
  • Severe congenital neutropenia 2, autosomal dominant4 tests
  • Severe congenital neutropenia 4, autosomal recessive9 tests
  • Severe congenital neutropenia 5, autosomal recessive6 tests
  • Severe congenital neutropenia 6, autosomal recessive6 tests
  • Severe myoclonic epilepsy in infancy3 tests
  • Severe neonatal-onset encephalopathy with microcephaly4 tests
  • Severe X-linked myotubular myopathy5 tests
  • Shaheen syndrome2 tests
  • Shashi-Pena syndrome2 tests
  • short QT syndrome1 test
  • Short QT syndrome 14 tests
  • Short QT syndrome 24 tests
  • Short QT syndrome 36 tests
  • Short rib-polydactyly syndrome, Majewski type3 tests
  • Short stature due to growth hormone qualitative anomaly1 test
  • Short stature due to growth hormone secretagogue receptor deficiency1 test
  • Short stature with nonspecific skeletal abnormalities3 tests
  • Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis2 tests
  • Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities2 tests
  • Short stature, brachydactyly, intellectual developmental disability, and seizures2 tests
  • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies2 tests
  • Short stature, idiopathic, autosomal2 tests
  • Short stature, microcephaly, and endocrine dysfunction1 test
  • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis1 test
  • Short stature, optic nerve atrophy, and Pelger-Huet anomaly4 tests
  • Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay4 tests
  • Short stature-pituitary and cerebellar defects-small sella turcica syndrome1 test
  • SHORT syndrome10 tests
  • Short-rib thoracic dysplasia 10 with or without polydactyly8 tests
  • Short-rib thoracic dysplasia 11 with or without polydactyly2 tests
  • Short-rib thoracic dysplasia 13 with or without polydactyly4 tests
  • Short-rib thoracic dysplasia 14 with polydactyly6 tests
  • Short-rib thoracic dysplasia 15 with polydactyly1 test
  • Short-rib thoracic dysplasia 16 with or without polydactyly1 test
  • Short-rib thoracic dysplasia 18 with polydactyly2 tests
  • Short-rib thoracic dysplasia 19 with or without polydactyly2 tests
  • Short-rib thoracic dysplasia 3 with or without polydactyly1 test
  • Short-rib thoracic dysplasia 7 with or without polydactyly3 tests
  • Short-rib thoracic dysplasia 8 with or without polydactyly2 tests
  • Shprintzen syndrome6 tests
  • Shprintzen-Goldberg syndrome1 test
  • Shwachman-Diamond syndrome 12 tests
  • Shwachman-Diamond syndrome 22 tests
  • Sialic acid storage disease, severe infantile type5 tests
  • Sialidosis type 24 tests
  • Sialuria6 tests
  • Sick sinus syndrome 1, autosomal recessive6 tests
  • Sick sinus syndrome 2, autosomal dominant4 tests
  • Sick sinus syndrome 3, susceptibility to1 test
  • Sideroblastic anemia 3, pyridoxine-refractory7 tests
  • Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay8 tests
  • Sifrim-Hitz-Weiss syndrome1 test
  • Silver-Russell syndrome 11 test
  • Silver-Russell syndrome 31 test
  • Simpson-Golabi-Behmel syndrome type 110 tests
  • Simpson-Golabi-Behmel syndrome, type 27 tests
  • Simvastatin response2 tests
  • Singleton-Merten syndrome 18 tests
  • Singleton-Merten syndrome 22 tests
  • Sinoatrial node dysfunction and deafness4 tests
  • Sitosterolemia1 test
  • Sitosterolemia 12 tests
  • Sitosterolemia 22 tests
  • Sjögren-Larsson syndrome7 tests
  • Skeletal dysplasia, mild, with joint laxity and advanced bone age3 tests
  • Skin fragility-woolly hair-palmoplantar keratoderma syndrome5 tests
  • Skin/hair/eye pigmentation, variation in, 11 test
  • Skin/hair/eye pigmentation, variation in, 111 test
  • Skin/hair/eye pigmentation, variation in, 31 test
  • Skin/hair/eye pigmentation, variation in, 51 test
  • Skin/hair/eye pigmentation, variation in, 71 test
  • Skin/hair/eye pigmentation, variation in, 82 tests
  • SLC35A2-CDG4 tests
  • SLC39A8-CDG5 tests
  • Slow acetylator due to N-acetyltransferase enzyme variant1 test
  • Small cell lung carcinoma2 tests
  • Small fiber neuropathy1 test
  • Smith-Kingsmore syndrome3 tests
  • Smith-Lemli-Opitz syndrome9 tests
  • Smith-Magenis syndrome3 tests
  • Smith-McCort dysplasia 12 tests
  • Smith-McCort dysplasia 21 test
  • Sneddon syndrome4 tests
  • Snowflake vitreoretinal degeneration1 test
  • Sodium serum level quantitative trait locus 15 tests
  • Solitary median maxillary central incisor syndrome3 tests
  • Soluble interleukin-6 receptor, serum level of, quantitative trait locus3 tests
  • Sorsby fundus dystrophy1 test
  • Sotos syndrome 15 tests
  • Sotos syndrome 22 tests
  • Spastic ataxia 5, autosomal recessive1 test
  • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy2 tests
  • Spastic paraplegia 11, autosomal recessive7 tests
  • Spastic paraplegia 176 tests
  • Spastic paraplegia 28, autosomal recessive1 test
  • Spastic paraplegia 30, autosomal recessive7 tests
  • Spastic paraplegia 31, autosomal dominant4 tests
  • Spastic paraplegia 355 tests
  • Spastic paraplegia 4, autosomal dominant4 tests
  • Spastic paraplegia 42, autosomal dominant3 tests
  • Spastic paraplegia 43, autosomal recessive6 tests
  • Spastic paraplegia 44, autosomal recessive3 tests
  • Spastic paraplegia 45, autosomal recessive1 test
  • Spastic paraplegia 46, autosomal recessive1 test
  • Spastic paraplegia 47, autosomal recessive3 tests
  • Spastic paraplegia 48, autosomal recessive1 test
  • Spastic paraplegia 49, autosomal recessive3 tests
  • Spastic paraplegia 50, autosomal recessive4 tests
  • Spastic paraplegia 51, autosomal recessive3 tests
  • Spastic paraplegia 52, autosomal recessive3 tests
  • Spastic paraplegia 54, autosomal recessive2 tests
  • Spastic paraplegia 55, autosomal recessive3 tests
  • Spastic paraplegia 56, autosomal recessive3 tests
  • Spastic paraplegia 57, autosomal recessive4 tests
  • Spastic paraplegia 61, autosomal recessive1 test
  • Spastic paraplegia 62, autosomal recessive1 test
  • Spastic paraplegia 63, autosomal recessive2 tests
  • Spastic paraplegia 64, autosomal recessive2 tests
  • Spastic paraplegia 72, autosomal recessive1 test
  • Spastic paraplegia 73, autosomal dominant1 test
  • Spastic paraplegia 74, autosomal recessive6 tests
  • Spastic paraplegia 75, autosomal recessive2 tests
  • Spastic paraplegia 76, autosomal recessive1 test
  • Spastic paraplegia 77, autosomal recessive4 tests
  • Spastic paraplegia 78, autosomal recessive8 tests
  • Spastic paraplegia 79, autosomal recessive1 test
  • Spastic paraplegia 9b, autosomal recessive5 tests
  • Spastic paraplegia and psychomotor retardation with or without seizures1 test
  • Spastic paraplegia, intellectual disability, nystagmus, and obesity3 tests
  • Spastic tetraplegia and axial hypotonia, progressive1 test
  • Spastic tetraplegia, thin corpus callosum, and progressive microcephaly3 tests
  • Spasticity, childhood-onset, with hyperglycinemia7 tests
  • Specific granule deficiency 14 tests
  • Specific granule deficiency 22 tests
  • Specific language impairment 51 test
  • Spermatogenic failure 182 tests
  • Spermatogenic failure 272 tests
  • Spermatogenic failure 461 test
  • Spermatogenic failure 81 test
  • Spherocytosis type 11 test
  • Spherocytosis type 21 test
  • Spherocytosis type 31 test
  • Spherocytosis type 42 tests
  • Spherocytosis type 51 test
  • Spheroid body myopathy4 tests
  • Sphingolipid activator protein 1 deficiency5 tests
  • Sphingomyelin/cholesterol lipidosis4 tests
  • Spinal muscular atrophy8 tests
  • Spinal muscular atrophy with congenital bone fractures 21 test
  • Spinal muscular atrophy, distal, autosomal recessive, 13 tests
  • Spinal muscular atrophy, distal, autosomal recessive, 53 tests
  • Spinal muscular atrophy, jokela type7 tests
  • Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant5 tests
  • Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant2 tests
  • Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant2 tests
  • Spinal muscular atrophy, type II4 tests
  • Spinal muscular atrophy, type IV4 tests
  • Spinal muscular atrophy, X-linked 22 tests
  • Spinal muscular atrophy-progressive myoclonic epilepsy syndrome10 tests
  • Spinocerebellar ataxia 432 tests
  • Spinocerebellar ataxia type 131 test
  • Spinocerebellar Ataxia Type 151 test
  • Spinocerebellar ataxia type 231 test
  • Spinocerebellar ataxia type 281 test
  • Spinocerebellar ataxia type 291 test
  • Spinocerebellar ataxia type 342 tests
  • Spinocerebellar ataxia type 51 test
  • Spinocerebellar ataxia type 66 tests
  • Spinocerebellar ataxia, autosomal recessive 123 tests
  • Spinocerebellar ataxia, autosomal recessive 141 test
  • Spinocerebellar ataxia, autosomal recessive 21 test
  • Spinocerebellar ataxia, autosomal recessive 241 test
  • Spinocerebellar ataxia, autosomal recessive 81 test
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 22 tests
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 31 test
  • Split-foot malformation with mesoaxial polydactyly4 tests
  • Split-hand/foot malformation 11 test
  • Split-hand/foot malformation 1 with sensorineural hearing loss1 test
  • Split-hand/foot malformation 43 tests
  • Split-hand/foot malformation 61 test
  • Sponastrime dysplasia1 test
  • Spondylo-megaepiphyseal-metaphyseal dysplasia2 tests
  • Spondylocarpotarsal synostosis syndrome1 test
  • Spondylocheirodysplasia, Ehlers-Danlos syndrome-like3 tests
  • Spondylocostal dysostosis 1, autosomal recessive2 tests
  • Spondylocostal dysostosis 2, autosomal recessive3 tests
  • Spondylocostal dysostosis 3, autosomal recessive4 tests
  • Spondylocostal dysostosis 4, autosomal recessive2 tests
  • Spondylocostal dysostosis 52 tests
  • Spondylocostal dysostosis 6, autosomal recessive2 tests
  • Spondyloenchondrodysplasia with immune dysregulation6 tests
  • Spondyloepimetaphyseal dysplasia Matrilin-3 related1 test
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures4 tests
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 22 tests
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 31 test
  • Spondyloepimetaphyseal dysplasia, aggrecan type1 test
  • Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type2 tests
  • Spondyloepimetaphyseal dysplasia, Genevieve type3 tests
  • Spondyloepimetaphyseal dysplasia, Missouri type1 test
  • Spondyloepimetaphyseal dysplasia, pakistani type4 tests
  • Spondyloepimetaphyseal dysplasia, Shohat type1 test
  • Spondyloepimetaphyseal dysplasia, Strudwick type1 test
  • Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy6 tests
  • Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome2 tests
  • Spondyloepiphyseal dysplasia congenita4 tests
  • Spondyloepiphyseal dysplasia Maroteaux type5 tests
  • Spondyloepiphyseal dysplasia tarda3 tests
  • Spondyloepiphyseal dysplasia with congenital joint dislocations3 tests
  • Spondyloepiphyseal dysplasia, kimberley type1 test
  • Spondyloepiphyseal dysplasia, kondo-fu type1 test
  • Spondyloepiphyseal dysplasia, stanescu type4 tests
  • Spondylometaphyseal dysplasia3 tests
  • Spondylometaphyseal dysplasia - Sutcliffe type4 tests
  • Spondylometaphyseal dysplasia, Kozlowski type5 tests
  • Spondylometaphyseal dysplasia, megarbane-dagher-melki type1 test
  • Spondylometaphyseal dysplasia, Sedaghatian type1 test
  • Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome2 tests
  • Spondyloocular syndrome, autosomal recessive3 tests
  • Spondyloperipheral dysplasia-short ulna syndrome4 tests
  • Spongiform encephalopathy with neuropsychiatric features4 tests
  • Spongy degeneration of central nervous system11 tests
  • Stapes ankylosis with broad thumb and toes2 tests
  • Stargardt disease 11 test
  • Stargardt Disease 32 tests
  • Stargardt disease 41 test
  • Statin-induced myopathy1 test
  • Steel syndrome3 tests
  • Stickler syndrome type 15 tests
  • Stickler syndrome type 25 tests
  • Stickler syndrome, type 45 tests
  • Stickler syndrome, type 54 tests
  • Stickler syndrome, type I, nonsyndromic ocular4 tests
  • Stiff skin syndrome4 tests
  • Sting-associated vasculopathy, infantile-onset1 test
  • Stomatin-deficient cryohydrocytosis with neurologic defects8 tests
  • Stormorken syndrome7 tests
  • Striatal degeneration, autosomal dominant 11 test
  • Striatal degeneration, autosomal dominant 21 test
  • Striatal necrosis, bilateral, and progressive polyneuropathy6 tests
  • Striatonigral degeneration infantile2 tests
  • Striatonigral degeneration, childhood-onset3 tests
  • Structural brain anomalies with impaired intellectual development and craniosynostosis1 test
  • Sturge-Weber syndrome1 test
  • Stuttering, familial persistent 13 tests
  • Stüve-Wiedemann syndrome4 tests
  • Succinate-semialdehyde dehydrogenase deficiency8 tests
  • Succinyl-CoA acetoacetate transferase deficiency7 tests
  • Sucrase-isomaltase deficiency4 tests
  • Sudden cardiac failure, alcohol-induced4 tests
  • Sudden cardiac failure, infantile4 tests
  • SUDDEN INFANT DEATH SYNDROME7 tests
  • Sudden infant death with dysgenesis of the testes syndrome1 test
  • Supranuclear palsy, progressive, 12 tests
  • Supravalvar aortic stenosis2 tests
  • Surfactant metabolism dysfunction, pulmonary, 11 test
  • Surfactant metabolism dysfunction, pulmonary, 21 test
  • Surfactant metabolism dysfunction, pulmonary, 31 test
  • Surfactant metabolism dysfunction, pulmonary, 43 tests
  • Surfactant metabolism dysfunction, pulmonary, 53 tests
  • Susceptibility to hepatitis C virus4 tests
  • Susceptibility to malaria6 tests
  • Susceptibility to severe cutaneous adverse reaction3 tests
  • Sveinsson chorioretinal atrophy1 test
  • Symmetrical dyschromatosis of extremities7 tests
  • Symphalangism, proximal, 1A2 tests
  • Symphalangism, proximal, 1B2 tests
  • Symphalangism-brachydactyly syndrome2 tests
  • Syndactyly type 36 tests
  • Syndactyly, type IV1 test
  • Syndactyly, type V1 test
  • Syndactyly-telecanthus-anogenital and renal malformations syndrome2 tests
  • Syndromic mental retardation, Nascimento type, X-linked1 test
  • Syndromic microphthalmia type 53 tests
  • Syndromic X-linked intellectual disability Lubs type3 tests
  • Syndromic X-linked mental retardation, Cabezas type3 tests
  • Synpolydactyly 11 test
  • Synpolydactyly 21 test
  • Systemic lupus erythematosus15 tests
  • Systemic lupus erythematosus 112 tests
  • Systemic lupus erythematosus 162 tests
  • Systemic lupus erythematosus 94 tests
  • T-cell immunodeficiency, congenital alopecia, and nail dystrophy3 tests
  • T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations4 tests
  • T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant2 tests
  • Tacrolimus response1 test
  • Takenouchi-Kosaki syndrome3 tests
  • Tangier disease3 tests
  • TARDBP-related frontotemporal dementia1 test
  • Tarsal-carpal coalition syndrome2 tests
  • Tatton-Brown-rahman syndrome2 tests
  • Tay-Sachs disease20 tests
  • Tay-Sachs disease, variant AB5 tests
  • Telangiectasia, hereditary hemorrhagic, type 22 tests
  • Telangiectasia, hereditary hemorrhagic, type 52 tests
  • Temple-Baraitser syndrome1 test
  • Temtamy preaxial brachydactyly syndrome3 tests
  • Temtamy syndrome1 test
  • Tenorio syndrome1 test
  • Terminal osseous dysplasia6 tests
  • Testicular anomalies with or without congenital heart disease5 tests
  • Testosterone 17-beta-dehydrogenase deficiency1 test
  • Tetraamelia, autosomal recessive2 tests
  • Tetralogy of Fallot14 tests
  • Tetrasomy 9p8 tests
  • Thanatophoric dysplasia type 14 tests
  • Thanatophoric dysplasia, type 23 tests
  • Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)5 tests
  • Thiopurine methyltransferase deficiency1 test
  • Three M syndrome 12 tests
  • Three M syndrome 22 tests
  • Three M syndrome 31 test
  • Thrombocythemia 11 test
  • Thrombocytopenia 111 tests
  • Thrombocytopenia 41 test
  • Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis5 tests
  • Thrombocytopenia, X-linked, with or without dyserythropoietic anemia5 tests
  • Thrombophilia due to factor V Leiden4 tests
  • Thrombophilia due to protein S deficiency, autosomal dominant2 tests
  • Thrombophilia due to protein S deficiency, autosomal recessive2 tests
  • Thrombophilia due to thrombin defect12 tests
  • Thrombophilia due to thrombomodulin defect2 tests
  • Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant2 tests
  • Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive2 tests
  • Thyroid cancer, nonmedullary, 27 tests
  • Thyroid carcinoma1 test
  • Thyroid dyshormonogenesis 64 tests
  • Thyrotoxic periodic paralysis, susceptibility to, 16 tests
  • Tibia, hypoplasia or aplasia of, with polydactyly1 test
  • Tibial muscular dystrophy10 tests
  • Timothy syndrome7 tests
  • TMEM199-CDG3 tests
  • TNF receptor-associated periodic fever syndrome (TRAPS)4 tests
  • Tobacco addiction, susceptibility to9 tests
  • Tooth agenesis, selective, 31 test
  • Tooth agenesis, selective, 41 test
  • Tooth agenesis, selective, 72 tests
  • Tooth agenesis, selective, 81 test
  • Tooth agenesis, selective, X-linked, 11 test
  • Toriello-Lacassie-Droste syndrome3 tests
  • Torsion dystonia 21 test
  • Torsion dystonia 61 test
  • Townes-Brocks syndrome 11 test
  • Tracheoesophageal fistula1 test
  • Tramadol response1 test
  • Transcolabamin II deficiency10 tests
  • Transferrin serum level quantitative trait locus 21 test
  • Transient bullous dermolysis of the newborn1 test
  • Transient neonatal diabetes mellitus 11 test
  • Transient neonatal diabetes mellitus 22 tests
  • Transient neonatal diabetes mellitus 32 tests
  • Transposition of the great arteries, dextro-looped 12 tests
  • Transposition of the great arteries, dextro-looped 32 tests
  • Treacher Collins syndrome 11 test
  • Treacher Collins syndrome 21 test
  • Treacher Collins syndrome 32 tests
  • Tremor, hereditary essential, 44 tests
  • Tricho-dento-osseous syndrome1 test
  • Trichohepatoenteric syndrome 13 tests
  • Trichohepatoenteric syndrome 25 tests
  • Trichomegaly-retina pigmentary degeneration-dwarfism syndrome2 tests
  • Trichorhinophalangeal dysplasia type I3 tests
  • Trichorhinophalangeal syndrome, type III3 tests
  • Trichothiodystrophy 1, photosensitive2 tests
  • Trichothiodystrophy 2, photosensitive2 tests
  • Trichothiodystrophy 3, photosensitive2 tests
  • Trichothiodystrophy 5, nonphotosensitive1 test
  • Trichothiodystrophy 6, nonphotosensitive1 test
  • Trichothiodystrophy, nonphotosensitive 12 tests
  • Triglyceride storage disease with ichthyosis1 test
  • Trigonocephaly 13 tests
  • Triosephosphate isomerase deficiency3 tests
  • Triploidy2 tests
  • Trisomy 10p7 tests
  • Trisomy 12p7 tests
  • Trisomy 17p7 tests
  • Trisomy 88 tests
  • Trisomy 8p8 tests
  • Trisomy 8q8 tests
  • Trisomy X syndrome2 tests
  • Tritanopia1 test
  • Troyer syndrome3 tests
  • Tuberous sclerosis 112 tests
  • Tuberous sclerosis 211 tests
  • Tuberous sclerosis syndrome8 tests
  • Tumor susceptibility linked to germline BAP1 mutations5 tests
  • Tumoral calcinosis, familial, normophosphatemic1 test
  • Tumoral calcinosis, hyperphosphatemic, familial, 21 test
  • Turcot syndrome19 tests
  • Turner syndrome11 tests
  • Turnpenny-fry syndrome2 tests
  • Type 2 diabetes mellitus19 tests
  • Type I complement component 8 deficiency1 test
  • Type II complement component 8 deficiency1 test
  • Tyrosinase-negative oculocutaneous albinism1 test
  • Tyrosinase-positive oculocutaneous albinism1 test
  • Tyrosinemia type 32 tests
  • Tyrosinemia type I11 tests
  • Tyrosinemia type II6 tests
  • UDPglucose-4-epimerase deficiency3 tests
  • Ullrich congenital muscular dystrophy 16 tests
  • Ullrich congenital muscular dystrophy 26 tests
  • Ulnar-mammary syndrome2 tests
  • Unverricht-Lundborg syndrome2 tests
  • Upshaw-Schulman syndrome1 test
  • Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to3 tests
  • Urinary bladder cancer10 tests
  • Urinary tract neoplasm1 test
  • Uruguay faciocardiomusculoskeletal syndrome7 tests
  • Usher syndrome type 15 tests
  • Usher syndrome type 1D7 tests
  • Usher syndrome type 1F3 tests
  • Usher syndrome, type 1C5 tests
  • Usher syndrome, type 1G3 tests
  • Usher syndrome, type 1J3 tests
  • Usher syndrome, type 1M1 test
  • Usher syndrome, type 2A7 tests
  • Usher syndrome, type 2C3 tests
  • Usher syndrome, type 2D3 tests
  • Usher syndrome, type 3A2 tests
  • Usher syndrome, type 3B1 test
  • Usher syndrome, type 43 tests
  • Usher Syndrome, Type III4 tests
  • Uterine leiomyoma1 test
  • UV-sensitive syndrome 11 test
  • UV-sensitive syndrome 21 test
  • VACTERL association with hydrocephalus1 test
  • VACTERL association, X-linked, with or without hydrocephalus3 tests
  • Van Buchem disease type 23 tests
  • van der Woude syndrome 11 test
  • Van der Woude syndrome 21 test
  • Van Esch-O'Driscoll syndrome4 tests
  • Van Maldergem syndrome 11 test
  • Van Maldergem syndrome 24 tests
  • Variegate porphyria5 tests
  • Venlafaxine response1 test
  • Ventricular septal defect 15 tests
  • Ventricular septal defect 34 tests
  • Ventricular tachycardia, catecholaminergic polymorphic, 23 tests
  • Ventricular tachycardia, catecholaminergic polymorphic, 43 tests
  • Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness3 tests
  • Ventriculomegaly with cystic kidney disease2 tests
  • Verapamil response1 test
  • Very long chain acyl-CoA dehydrogenase deficiency14 tests
  • Vesicoureteral reflux 31 test
  • VEXAS syndrome2 tests
  • Vici syndrome4 tests
  • Visceral heterotaxy 5, autosomal2 tests
  • Vitamin B12-responsive methylmalonic acidemia type cblA8 tests
  • Vitamin B12-responsive methylmalonic acidemia type cblB8 tests
  • Vitamin d hydroxylation-deficient rickets, type 1b1 test
  • Vitamin D-dependent rickets type II with alopecia1 test
  • Vitelliform macular dystrophy type 21 test
  • Vitiligo-associated multiple autoimmune disease susceptibility 12 tests
  • Vitreoretinochoroidopathy1 test
  • Vitreoretinopathy, neovascular inflammatory1 test
  • Von Hippel-Lindau syndrome10 tests
  • Waardenburg syndrome type 11 test
  • Waardenburg syndrome type 2D1 test
  • Waardenburg syndrome type 2E2 tests
  • Waardenburg syndrome type 31 test
  • Waardenburg syndrome type 4A2 tests
  • Waardenburg syndrome type 4B1 test
  • Waardenburg syndrome type 4C2 tests
  • Wagner syndrome3 tests
  • Warburg micro syndrome 11 test
  • Warburg micro syndrome 22 tests
  • Warburg micro syndrome 31 test
  • Warburg micro syndrome 41 test
  • Warburg-Cinotti syndrome1 test
  • Warfarin response1 test
  • Warts, hypogammaglobulinemia, infections, and myelokathexis6 tests
  • Weaver syndrome3 tests
  • Webb-Dattani syndrome1 test
  • Weill-Marchesani syndrome 14 tests
  • Weill-Marchesani syndrome 24 tests
  • Weill-Marchesani syndrome 33 tests
  • Weill-Marchesani syndrome 42 tests
  • Welander distal myopathy2 tests
  • Werdnig-Hoffmann disease4 tests
  • Werner syndrome3 tests
  • Wiedemann-Steiner syndrome4 tests
  • Williams syndrome2 tests
  • Wilms tumor 112 tests
  • Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome6 tests
  • Wilson disease17 tests
  • Wiskott-Aldrich syndrome7 tests
  • Wiskott-Aldrich syndrome 24 tests
  • Wolcott-Rallison dysplasia5 tests
  • Wolff-Parkinson-White pattern5 tests
  • Wolfram syndrome 15 tests
  • Wolfram syndrome 22 tests
  • Wolfram-like syndrome, autosomal dominant5 tests
  • Wolman disease1 test
  • Worth disease3 tests
  • Wrinkly skin syndrome3 tests
  • X-linked agammaglobulinemia8 tests
  • X-linked agammaglobulinemia with growth hormone deficiency8 tests
  • X-linked chondrodysplasia punctata 12 tests
  • X-linked cone-rod dystrophy 31 test
  • X-linked hydrocephalus syndrome3 tests
  • X-linked intellectual disability-hypotonic face syndrome4 tests
  • X-linked mental retardation with marfanoid habitus syndrome4 tests
  • X-linked myopathy with excessive autophagy4 tests
  • X-linked recessive nephrolithiasis with renal failure1 test
  • X-linked severe combined immunodeficiency9 tests
  • X-linked severe congenital neutropenia11 tests
  • X-linked sideroblastic anemia with ataxia2 tests
  • X-linked spondyloepimetaphyseal dysplasia3 tests
  • Xanthinuria type II3 tests
  • Xeroderma pigmentosum group A2 tests
  • Xeroderma pigmentosum, complementation group b2 tests
  • Xeroderma pigmentosum, group C2 tests
  • Xeroderma pigmentosum, group D2 tests
  • Xia-Gibbs syndrome1 test
  • Yao syndrome5 tests
  • Yunis-Varon syndrome7 tests
  • Zellweger Spectrum Disorder4 tests
  • Zimmermann-Laband syndrome 11 test
  • ZTTK syndrome2 tests

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Genetic counseling

List of certifications/licenses

Certifications

  • CLIAHelp, Number: 05D1052995, Expiration date: 2022-11-25
  • CAP, Number: 8770489, Expiration date: 2020-10-03
  • CAP, Number: 4344001, Expiration date: 2021-08-23

Licenses

  • CA - California Department of Public Health CDPH, Number: CDF00342667, Expiration date: 2022-03-13
  • MD - Maryland Department of Health and Mental Hygiene DHMH, Number: 1964, Effective date: 2020-06-05 Non-expiring
  • NY - New York State Department of Health NYSDOH, Number: PFI: 8884, Expiration date: 2022-06-30
  • PA - Pennsylvania Department of Health PADOH, Number: 033007, Expiration date: 2022-08-15
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IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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