Intergen

Personnel

Director: Hasan Baş, MD, Medical Director
Email: hasanbas@intergen.com.tr
Director: Serdar Ceylaner, MD, Lab Director
Phone: +90 5332145337
Fax: +90 3124284814
Email: serdarceylaner@intergen.com.tr
Director: Gülay Ceylaner, PhD, MD, Lab Director
Phone: +9 05333943150
Fax: +9 03124282693
Email: gulayceylaner@intergen.com.tr
Ezgi Demir, Staff
Email: ezgidemir@intergen.com.tr
Betül Cerrah Tosun, Staff
Email: betulcerrah@intergen.com.tr
Fatma Dereli, Staff
Email: fatmadereli@intergen.com.tr
Tuğba Ersoy, Staff
Email: tugbaersoy@intergen.com.tr
Dudu Türkyılmaz, Staff
Email: dudugumus@intergen.com.tr
Selin Yıldız, Staff
Email: selinyildiz@intergen.com.tr
Burak Yılmaz, Staff
Email: burakyilmaz@intergen.com.tr
Başak Çakır, Staff
Email: basakranacakir@intergen.com.tr
Betül Çalışkan, Staff
Email: betulcaliskan@intergen.com.tr
Mine Öcal, Staff
Email: mineocal@intergen.com.tr
Hilal Şeker, Staff
Email: hilalseker@intergen.com.tr

Conditions and tests

4718 conditions/phenotypes with 10407 tests
Enter text to narrow down the list

11p partial monosomy syndrome2 tests
15q11q13 microduplication syndrome2 tests
17p11.2 microduplication syndrome2 tests
2-aminoadipic 2-oxoadipic aciduria2 tests
2-hydroxyglutaric aciduria2 tests
3 beta-Hydroxysteroid dehydrogenase deficiency2 tests
3-hydroxy-3-methylglutaryl-CoA synthase deficiency2 tests
3-hydroxyisobutyryl-CoA hydrolase deficiency2 tests
3-methylcrotonyl-CoA carboxylase 1 deficiency2 tests
3-methylcrotonyl-CoA carboxylase 2 deficiency2 tests
3-methylglutaconic aciduria type 12 tests
3-Methylglutaconic aciduria type 22 tests
3-Methylglutaconic aciduria type 32 tests
3-methylglutaconic aciduria type 52 tests
3-methylglutaconic aciduria type 82 tests
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome2 tests
3-methylglutaconic aciduria, type VIIB2 tests
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency2 tests
3M syndrome 12 tests
3M syndrome 22 tests
3M syndrome 32 tests
3MC syndrome 12 tests
3MC syndrome 22 tests
3MC syndrome 31 test
3p- syndrome2 tests
46,XX ovarian dysgenesis-short stature syndrome1 test
46,XX sex reversal 14 tests
46,XX sex reversal 32 tests
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency6 tests
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome2 tests
46,XY sex reversal 12 tests
46,XY sex reversal 23 tests
46,XY sex reversal 34 tests
46,XY sex reversal 42 tests
46,XY sex reversal 52 tests
46,XY sex reversal 62 tests
46,XY sex reversal 72 tests
46,XY sex reversal 93 tests
5-Oxoprolinase deficiency2 tests
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency2 tests
7q11.23 microduplication syndrome2 tests
8q22.1 microdeletion syndrome1 test
8q24.3 microdeletion syndrome2 tests
Aarskog syndrome6 tests
ABCD syndrome4 tests
Abdominal obesity-metabolic syndrome 31 test
Abetalipoproteinaemia2 tests
Ablepharon macrostomia syndrome1 test
Abortive cerebellar ataxia8 tests
ABri amyloidosis1 test
Abruzzo-Erickson syndrome2 tests
Absence seizure1 test
Acatalasia2 tests
Accelerated tumor formation, susceptibility to2 tests
Acetyl-CoA acetyltransferase-2 deficiency2 tests
Acetyl-CoA: carboxylase deficiency2 tests
Acheiropodia3 tests
Achondrogenesis type II4 tests
Achondrogenesis, type IA2 tests
Achondrogenesis, type IB2 tests
Achromatopsia 21 test
Achromatopsia 31 test
Achromatopsia 41 test
Achromatopsia 71 test
Acid phosphatase deficiency2 tests
Acne inversa, familial, 11 test
Acne inversa, familial, 21 test
Acne inversa, familial, 32 tests
Acquired hemoglobin H disease2 tests
Acquired partial lipodystrophy1 test
Acquired polycythemia vera1 test
Acral peeling skin syndrome1 test
Acrocallosal syndrome4 tests
Acrocapitofemoral dysplasia2 tests
Acrocephalosyndactyly type I6 tests
Acrodysostosis 1 with or without hormone resistance3 tests
Acrodysostosis 2 with or without hormone resistance2 tests
Acroerythrokeratoderma1 test
Acrofacial dysostosis Cincinnati type2 tests
Acrokeratosis verruciformis of Hopf1 test
Acromelic frontonasal dysostosis2 tests
Acromesomelic dysplasia 1, Maroteaux type2 tests
Acromesomelic dysplasia 2B2 tests
Acromesomelic dysplasia 2C, Hunter-Thompson type2 tests
Acromesomelic dysplasia 32 tests
Acromicric dysplasia4 tests
Acroosteolysis-keloid-like lesions-premature aging syndrome1 test
ACTH-independent macronodular adrenal hyperplasia 21 test
Actin accumulation myopathy4 tests
Action myoclonus-renal failure syndrome2 tests
Acute febrile mucocutaneous lymph node syndrome1 test
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins2 tests
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome1 test
Acute intermittent porphyria8 tests
Acute lymphoid leukemia7 tests
Acute myeloid leukemia27 tests
Acute promyelocytic leukemia2 tests
Acyl-CoA dehydrogenase 9 deficiency2 tests
Acyl-CoA oxidase deficiency2 tests
Adams-Oliver syndrome 12 tests
Adams-Oliver syndrome 22 tests
Adams-Oliver syndrome 32 tests
Adams-Oliver syndrome 42 tests
Adams-Oliver syndrome 52 tests
Adams-Oliver syndrome 62 tests
ADan amyloidosis1 test
Adenine phosphoribosyltransferase deficiency3 tests
Adenosine kinase deficiency2 tests
Adenylosuccinate lyase deficiency2 tests
Adermatoglyphia1 test
Adiponectin deficiency1 test
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder2 tests
Adrenocortical carcinoma, hereditary2 tests
Adrenoleukodystrophy4 tests
Adult hypophosphatasia3 tests
Adult neuronal ceroid lipofuscinosis4 tests
Adult polyglucosan body disease2 tests
ADULT syndrome2 tests
Adult-onset autosomal dominant demyelinating leukodystrophy4 tests
Adult-onset foveomacular vitelliform dystrophy2 tests
Adult-onset proximal spinal muscular atrophy, autosomal dominant2 tests
Advanced sleep phase syndrome 11 test
Advanced sleep phase syndrome 21 test
Advanced sleep phase syndrome 31 test
Afibrinogenemia4 tests
Agammaglobulinemia 2, autosomal recessive2 tests
Agammaglobulinemia 3, autosomal recessive2 tests
Agammaglobulinemia 4, autosomal recessive2 tests
Agammaglobulinemia 5, autosomal dominant2 tests
Agammaglobulinemia 6, autosomal recessive2 tests
Agammaglobulinemia 7, autosomal recessive2 tests
Agammaglobulinemia 8, autosomal dominant2 tests
Age related macular degeneration 16 tests
Age related macular degeneration 111 test
Age related macular degeneration 122 tests
Age related macular degeneration 132 tests
Age related macular degeneration 142 tests
Age related macular degeneration 151 test
Age related macular degeneration 22 tests
Age related macular degeneration 42 tests
Age related macular degeneration 51 test
Age related macular degeneration 61 test
Age related macular degeneration 71 test
Age related macular degeneration 81 test
Age related macular degeneration 91 test
Agenesis of the corpus callosum with peripheral neuropathy2 tests
Agnathia-otocephaly complex2 tests
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome2 tests
AICA-ribosiduria2 tests
Aicardi-Goutieres syndrome 15 tests
Aicardi-Goutieres syndrome 24 tests
Aicardi-Goutieres syndrome 34 tests
Aicardi-Goutieres syndrome 44 tests
Aicardi-Goutieres syndrome 54 tests
Aicardi-Goutieres syndrome 62 tests
Aicardi-Goutieres syndrome 72 tests
Al-Raqad syndrome2 tests
Alacrima, achalasia, and intellectual disability syndrome2 tests
Alagille syndrome due to a JAG1 point mutation6 tests
Alagille syndrome due to a NOTCH2 point mutation2 tests
Aland island eye disease1 test
Alazami-Yuan syndrome2 tests
Alcohol dependence6 tests
Alcohol sensitivity, acute4 tests
ALDH18A1-related de Barsy syndrome2 tests
Aldosterone-producing adenoma with seizures and neurological abnormalities2 tests
Alexander disease2 tests
ALG1-congenital disorder of glycosylation2 tests
ALG11-congenital disorder of glycosylation2 tests
ALG12-congenital disorder of glycosylation2 tests
ALG2-congenital disorder of glycosylation2 tests
ALG3-congenital disorder of glycosylation2 tests
ALG6-congenital disorder of glycosylation 1C2 tests
ALG8 congenital disorder of glycosylation2 tests
ALG9 congenital disorder of glycosylation3 tests
Allan-Herndon-Dudley syndrome2 tests
Allergic rhinitis1 test
Alopecia universalis congenita1 test
alpha Thalassemia8 tests
Alpha thalassemia-intellectual disability syndrome type 12 tests
Alpha thalassemia-X-linked intellectual disability syndrome4 tests
Alpha-1-antitrypsin deficiency6 tests
Alpha-2-macroglobulin deficiency2 tests
Alpha-2-plasmin inhibitor deficiency1 test
Alpha-fetoprotein deficiency2 tests
Alpha-methylacyl-CoA racemase deficiency2 tests
Alpha-N-acetylgalactosaminidase deficiency type 14 tests
Alpha-N-acetylgalactosaminidase deficiency type 22 tests
Alstrom syndrome2 tests
Alternating hemiplegia of childhood 12 tests
Alternating hemiplegia of childhood 24 tests
Alveolar capillary dysplasia with pulmonary venous misalignment4 tests
Alveolar rhabdomyosarcoma4 tests
Alveolar soft part sarcoma1 test
Alzheimer disease10 tests
Alzheimer disease 181 test
Alzheimer disease 21 test
Alzheimer disease 36 tests
Alzheimer disease 41 test
Alzheimer disease 91 test
Amelocerebrohypohidrotic syndrome2 tests
Amelogenesis imperfecta - hypoplastic autosomal dominant - local1 test
Amelogenesis imperfecta hypomaturation type 2A21 test
Amelogenesis imperfecta hypomaturation type 2A31 test
Amelogenesis imperfecta hypomaturation type 2A41 test
Amelogenesis imperfecta hypomaturation type 2A51 test
Amelogenesis imperfecta type 1A2 tests
Amelogenesis imperfecta type 1C1 test
Amelogenesis imperfecta type 1E1 test
Amelogenesis imperfecta type 1F1 test
Amelogenesis imperfecta type 1G1 test
Amelogenesis imperfecta type 1H1 test
Amelogenesis imperfecta type 2A11 test
Amelogenesis imperfecta, hypocalcification type1 test
Amelogenesis imperfecta, hypomaturation type, IIa61 test
Amelogenesis imperfecta, type 1J1 test
Aminoacylase 1 deficiency2 tests
Aminoglycoside-induced deafness1 test
Amish lethal microcephaly3 tests
Amyloidosis, hereditary systemic 11 test
Amyloidosis, primary localized cutaneous, 11 test
Amyloidosis, primary localized cutaneous, 21 test
Amyotrophic lateral sclerosis type 14 tests
Amyotrophic lateral sclerosis type 102 tests
Amyotrophic lateral sclerosis type 111 test
Amyotrophic lateral sclerosis type 121 test
Amyotrophic lateral sclerosis type 151 test
Amyotrophic lateral sclerosis type 161 test
Amyotrophic lateral sclerosis type 181 test
Amyotrophic lateral sclerosis type 191 test
Amyotrophic lateral sclerosis type 2, juvenile1 test
Amyotrophic lateral sclerosis type 201 test
Amyotrophic lateral sclerosis type 211 test
Amyotrophic lateral sclerosis type 221 test
Amyotrophic lateral sclerosis type 42 tests
Amyotrophic lateral sclerosis type 52 tests
Amyotrophic lateral sclerosis type 61 test
Amyotrophic lateral sclerosis type 81 test
Amyotrophic lateral sclerosis type 91 test
Amyotrophic lateral sclerosis-parkinsonism-dementia complex1 test
Analbuminemia2 tests
Anaphylotoxin inactivator deficiency2 tests
Anauxetic dysplasia 12 tests
Andersen Tawil syndrome4 tests
Androgen resistance syndrome4 tests
ANE syndrome2 tests
Anemia, nonspherocytic hemolytic, due to G6PD deficiency2 tests
Aneurysm-osteoarthritis syndrome2 tests
Angelman syndrome2 tests
Angiomatoid fibrous histiocytoma1 test
Anhaptoglobinemia2 tests
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome8 tests
Aniridia 14 tests
Aniridia 21 test
Aniridia 31 test
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome2 tests
Ankylosing spondylitis1 test
Annular epidermolytic ichthyosis2 tests
Anonychia1 test
Anophthalmia/microphthalmia-esophageal atresia syndrome6 tests
Anorexia nervosa, susceptibility to, 11 test
Anterior segment dysgenesis 11 test
Anterior segment dysgenesis 32 tests
Anterior segment dysgenesis 42 tests
Anterior segment dysgenesis 62 tests
Anterior segment dysgenesis 71 test
Anterior segment dysgenesis 81 test
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis4 tests
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis2 tests
Anxiety1 test
Aortic aneurysm, familial thoracic 101 test
Aortic aneurysm, familial thoracic 11, susceptibility to1 test
Aortic aneurysm, familial thoracic 41 test
Aortic aneurysm, familial thoracic 61 test
Aortic aneurysm, familial thoracic 71 test
Aortic aneurysm, familial thoracic 81 test
Aortic aneurysm, familial thoracic 91 test
Aortic valve disease 11 test
Aortic valve disease 21 test
Aplasia cutis congenita2 tests
Aplastic anemia10 tests
Apolipoprotein c-III deficiency1 test
Apparent mineralocorticoid excess2 tests
Arginase deficiency2 tests
Arginine:glycine amidinotransferase deficiency2 tests
Argininosuccinate lyase deficiency2 tests
Aromatase deficiency2 tests
Aromatase excess syndrome2 tests
Arrhinia with choanal atresia and microphthalmia syndrome2 tests
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma4 tests
Arrhythmogenic right ventricular dysplasia 11 test
Arrhythmogenic right ventricular dysplasia 101 test
Arrhythmogenic right ventricular dysplasia 112 tests
Arrhythmogenic right ventricular dysplasia 121 test
Arrhythmogenic right ventricular dysplasia 131 test
Arrhythmogenic right ventricular dysplasia 21 test
Arrhythmogenic right ventricular dysplasia 51 test
Arrhythmogenic right ventricular dysplasia 82 tests
Arrhythmogenic right ventricular dysplasia 92 tests
Arterial calcification, generalized, of infancy, 13 tests
Arterial calcification, generalized, of infancy, 24 tests
Arterial tortuosity syndrome2 tests
Arthrogryposis, distal, type 1A2 tests
Arthrogryposis, distal, type 1B2 tests
Arthrogryposis, distal, with impaired proprioception and touch2 tests
Arthrogryposis, Perthes disease, and upward gaze palsy2 tests
Arthrogryposis, renal dysfunction, and cholestasis 12 tests
Arthrogryposis, renal dysfunction, and cholestasis 22 tests
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome2 tests
Arts syndrome3 tests
ASPARTATE AMINOTRANSFERASE, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 12 tests
Aspartylglucosaminuria2 tests
Asperger syndrome, X-linked, susceptibility to, 12 tests
Asperger syndrome, X-linked, susceptibility to, 22 tests
Aspergillosis, susceptibility to2 tests
Asphyxiating thoracic dystrophy 22 tests
Asphyxiating thoracic dystrophy 32 tests
Asphyxiating thoracic dystrophy 42 tests
Asphyxiating thoracic dystrophy 52 tests
Asthma, nasal polyps, and aspirin intolerance3 tests
Asthma-related traits, susceptibility to, 11 test
Asthma-related traits, susceptibility to, 21 test
Asthma-related traits, susceptibility to, 51 test
Asthma-related traits, susceptibility to, 71 test
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome2 tests
Ataxia - oculomotor apraxia type 41 test
Ataxia with oculomotor apraxia type 31 test
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia2 tests
Ataxia-hypogonadism-choroidal dystrophy syndrome1 test
Ataxia-pancytopenia syndrome2 tests
Ataxia-telangiectasia syndrome7 tests
Ataxia-telangiectasia-like disorder 12 tests
Ataxia-telangiectasia-like disorder 22 tests
Ateleiotic dwarfism2 tests
Atelosteogenesis type I4 tests
Atelosteogenesis type II4 tests
Atelosteogenesis type III4 tests
Atransferrinemia2 tests
Atrial conduction disease1 test
Atrial fibrillation, familial, 102 tests
Atrial fibrillation, familial, 111 test
Atrial fibrillation, familial, 121 test
Atrial fibrillation, familial, 131 test
Atrial fibrillation, familial, 141 test
Atrial fibrillation, familial, 151 test
Atrial fibrillation, familial, 181 test
Atrial fibrillation, familial, 31 test
Atrial fibrillation, familial, 41 test
Atrial fibrillation, familial, 61 test
Atrial fibrillation, familial, 71 test
Atrial fibrillation, familial, 92 tests
Atrial septal defect 22 tests
Atrial septal defect 31 test
Atrial septal defect 41 test
Atrial septal defect 51 test
Atrial septal defect 61 test
Atrial septal defect 72 tests
Atrial septal defect 81 test
Atrial septal defect 91 test
Atrial standstill 11 test
Atrial standstill 21 test
Atrichia with papular lesions1 test
Atrioventricular septal defect 42 tests
Atrioventricular septal defect 51 test
Atrioventricular septal defect and common atrioventricular junction2 tests
Atrioventricular septal defect, susceptibility to, 24 tests
Atrophia bulborum hereditaria1 test
Attention deficit hyperactivity disorder4 tests
Attention deficit-hyperactivity disorder, susceptibility to, 71 test
Atypical glycine encephalopathy2 tests
Atypical hemolytic-uremic syndrome with B factor anomaly2 tests
Atypical hemolytic-uremic syndrome with C3 anomaly2 tests
Atypical hemolytic-uremic syndrome with I factor anomaly2 tests
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly2 tests
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly2 tests
Au-Kline syndrome2 tests
Aural atresia, congenital1 test
Auriculocondylar syndrome 11 test
Auriculocondylar syndrome 21 test
Auriculocondylar syndrome 32 tests
Autism spectrum disorder - epilepsy - arthrogryposis syndrome2 tests
Autism spectrum disorder due to AUTS2 deficiency2 tests
Autism, susceptibility to, 154 tests
Autism, susceptibility to, 162 tests
Autism, susceptibility to, 172 tests
Autism, susceptibility to, 192 tests
Autism, susceptibility to, X-linked 12 tests
Autism, susceptibility to, X-linked 24 tests
Autism, susceptibility to, X-linked 34 tests
Autism, susceptibility to, X-linked 42 tests
Autism, susceptibility to, X-linked 52 tests
Autoimmune disease, multisystem, infantile-onset, 21 test
Autoimmune disease, susceptibility to, 11 test
Autoimmune disease, susceptibility to, 61 test
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome2 tests
Autoimmune interstitial lung disease-arthritis syndrome2 tests
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency2 tests
Autoimmune lymphoproliferative syndrome type 15 tests
Autoimmune lymphoproliferative syndrome type 2A2 tests
Autoimmune lymphoproliferative syndrome type 2B2 tests
Autoimmune lymphoproliferative syndrome type 46 tests
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD2 tests
Autoimmune thrombocytopenia1 test
Autoimmune thyroid disease, susceptibility to, 32 tests
Autoinflammation with arthritis and dyskeratosis2 tests
Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive1 test
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation2 tests
Autoinflammatory syndrome, familial, Behcet-like1 test
Autosomal dominant Alport syndrome4 tests
Autosomal dominant aplasia and myelodysplasia2 tests
Autosomal dominant auditory neuropathy 11 test
Autosomal dominant centronuclear myopathy4 tests
Autosomal dominant cerebellar ataxia, deafness and narcolepsy2 tests
Autosomal dominant Charcot-Marie-Tooth disease type 2W1 test
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures2 tests
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures2 tests
Autosomal dominant deafness - onychodystrophy syndrome1 test
Autosomal dominant distal renal tubular acidosis2 tests
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome1 test
Autosomal dominant hypocalcemia 16 tests
Autosomal dominant hypocalcemia 21 test
Autosomal dominant hypophosphatemic rickets4 tests
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome2 tests
Autosomal dominant isolated somatotropin deficiency2 tests
Autosomal dominant Kenny-Caffey syndrome2 tests
Autosomal dominant keratitis2 tests
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome1 test
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)1 test
Autosomal dominant limb-girdle muscular dystrophy type 1F1 test
Autosomal dominant limb-girdle muscular dystrophy type 1G1 test
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency2 tests
Autosomal dominant mitochondrial myopathy with exercise intolerance2 tests
Autosomal dominant nocturnal frontal lobe epilepsy 12 tests
Autosomal dominant nocturnal frontal lobe epilepsy 32 tests
Autosomal dominant nocturnal frontal lobe epilepsy 41 test
Autosomal dominant nocturnal frontal lobe epilepsy 51 test
Autosomal dominant nonsyndromic hearing loss 11 test
Autosomal dominant nonsyndromic hearing loss 101 test
Autosomal dominant nonsyndromic hearing loss 111 test
Autosomal dominant nonsyndromic hearing loss 121 test
Autosomal dominant nonsyndromic hearing loss 132 tests
Autosomal dominant nonsyndromic hearing loss 151 test
Autosomal dominant nonsyndromic hearing loss 172 tests
Autosomal dominant nonsyndromic hearing loss 201 test
Autosomal dominant nonsyndromic hearing loss 221 test
Autosomal dominant nonsyndromic hearing loss 231 test
Autosomal dominant nonsyndromic hearing loss 251 test
Autosomal dominant nonsyndromic hearing loss 281 test
Autosomal dominant nonsyndromic hearing loss 2A1 test
Autosomal dominant nonsyndromic hearing loss 2B2 tests
Autosomal dominant nonsyndromic hearing loss 361 test
Autosomal dominant nonsyndromic hearing loss 3A1 test
Autosomal dominant nonsyndromic hearing loss 3B1 test
Autosomal dominant nonsyndromic hearing loss 401 test
Autosomal dominant nonsyndromic hearing loss 411 test
Autosomal dominant nonsyndromic hearing loss 441 test
Autosomal dominant nonsyndromic hearing loss 4A1 test
Autosomal dominant nonsyndromic hearing loss 4B1 test
Autosomal dominant nonsyndromic hearing loss 51 test
Autosomal dominant nonsyndromic hearing loss 501 test
Autosomal dominant nonsyndromic hearing loss 511 test
Autosomal dominant nonsyndromic hearing loss 561 test
Autosomal dominant nonsyndromic hearing loss 62 tests
Autosomal dominant nonsyndromic hearing loss 641 test
Autosomal dominant nonsyndromic hearing loss 651 test
Autosomal dominant nonsyndromic hearing loss 661 test
Autosomal dominant nonsyndromic hearing loss 671 test
Autosomal dominant nonsyndromic hearing loss 681 test
Autosomal dominant nonsyndromic hearing loss 691 test
Autosomal dominant nonsyndromic hearing loss 701 test
Autosomal dominant nonsyndromic hearing loss 91 test
Autosomal dominant Opitz G/BBB syndrome2 tests
Autosomal dominant optic atrophy classic form2 tests
Autosomal dominant osteopetrosis 12 tests
Autosomal dominant osteopetrosis 22 tests
Autosomal dominant Parkinson disease 12 tests
Autosomal dominant Parkinson disease 42 tests
Autosomal dominant Parkinson disease 81 test
Autosomal dominant pseudohypoaldosteronism type 11 test
Autosomal dominant Robinow syndrome 12 tests
Autosomal dominant Robinow syndrome 22 tests
Autosomal dominant Robinow syndrome 32 tests
Autosomal dominant sensory ataxia 11 test
Autosomal dominant sideroblastic anemia2 tests
Autosomal dominant slowed nerve conduction velocity1 test
Autosomal dominant striatal neurodegeneration type 12 tests
Autosomal dominant vitreoretinochoroidopathy4 tests
Autosomal dominant wooly hair1 test
Autosomal recessive agammaglobulinemia 12 tests
Autosomal recessive Alport syndrome10 tests
Autosomal recessive ataxia due to ubiquinone deficiency2 tests
Autosomal recessive ataxia, Beauce type1 test
Autosomal recessive axonal neuropathy with neuromyotonia2 tests
Autosomal recessive bestrophinopathy2 tests
Autosomal recessive complex spastic paraplegia type 9B1 test
Autosomal recessive congenital ichthyosis 12 tests
Autosomal recessive congenital ichthyosis 102 tests
Autosomal recessive congenital ichthyosis 112 tests
Autosomal recessive congenital ichthyosis 22 tests
Autosomal recessive congenital ichthyosis 32 tests
Autosomal recessive congenital ichthyosis 4A2 tests
Autosomal recessive congenital ichthyosis 4B2 tests
Autosomal recessive congenital ichthyosis 52 tests
Autosomal recessive congenital ichthyosis 62 tests
Autosomal recessive congenital ichthyosis 82 tests
Autosomal recessive congenital ichthyosis 92 tests
Autosomal recessive cutis laxa type 2B2 tests
Autosomal recessive distal renal tubular acidosis1 test
Autosomal recessive distal spinal muscular atrophy 12 tests
Autosomal recessive distal spinal muscular atrophy 22 tests
Autosomal recessive DOPA responsive dystonia4 tests
Autosomal recessive early-onset Parkinson disease 231 test
Autosomal recessive early-onset Parkinson disease 62 tests
Autosomal recessive early-onset Parkinson disease 72 tests
Autosomal recessive hypophosphatemic bone disease1 test
Autosomal recessive inherited pseudoxanthoma elasticum4 tests
Autosomal recessive juvenile Parkinson disease 21 test
Autosomal recessive Kenny-Caffey syndrome2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2A2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2B2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2C2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2D2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2E2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2F2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2G1 test
Autosomal recessive limb-girdle muscular dystrophy type 2I4 tests
Autosomal recessive limb-girdle muscular dystrophy type 2J1 test
Autosomal recessive limb-girdle muscular dystrophy type 2K4 tests
Autosomal recessive limb-girdle muscular dystrophy type 2L2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2M4 tests
Autosomal recessive limb-girdle muscular dystrophy type 2N4 tests
Autosomal recessive limb-girdle muscular dystrophy type 2O4 tests
Autosomal recessive limb-girdle muscular dystrophy type 2P2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2Q1 test
Autosomal recessive limb-girdle muscular dystrophy type 2R11 test
Autosomal recessive limb-girdle muscular dystrophy type 2T1 test
Autosomal recessive limb-girdle muscular dystrophy type 2U2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2W1 test
Autosomal recessive limb-girdle muscular dystrophy type 2X1 test
Autosomal recessive limb-girdle muscular dystrophy type 2Y1 test
Autosomal recessive limb-girdle muscular dystrophy type R181 test
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency2 tests
Autosomal recessive multiple pterygium syndrome2 tests
Autosomal recessive nonsyndromic hearing loss 1011 test
Autosomal recessive nonsyndromic hearing loss 1021 test
Autosomal recessive nonsyndromic hearing loss 1031 test
Autosomal recessive nonsyndromic hearing loss 1041 test
Autosomal recessive nonsyndromic hearing loss 122 tests
Autosomal recessive nonsyndromic hearing loss 151 test
Autosomal recessive nonsyndromic hearing loss 161 test
Autosomal recessive nonsyndromic hearing loss 18A1 test
Autosomal recessive nonsyndromic hearing loss 18B1 test
Autosomal recessive nonsyndromic hearing loss 1A4 tests
Autosomal recessive nonsyndromic hearing loss 1B1 test
Autosomal recessive nonsyndromic hearing loss 21 test
Autosomal recessive nonsyndromic hearing loss 211 test
Autosomal recessive nonsyndromic hearing loss 221 test
Autosomal recessive nonsyndromic hearing loss 232 tests
Autosomal recessive nonsyndromic hearing loss 241 test
Autosomal recessive nonsyndromic hearing loss 251 test
Autosomal recessive nonsyndromic hearing loss 281 test
Autosomal recessive nonsyndromic hearing loss 291 test
Autosomal recessive nonsyndromic hearing loss 31 test
Autosomal recessive nonsyndromic hearing loss 301 test
Autosomal recessive nonsyndromic hearing loss 311 test
Autosomal recessive nonsyndromic hearing loss 351 test
Autosomal recessive nonsyndromic hearing loss 362 tests
Autosomal recessive nonsyndromic hearing loss 371 test
Autosomal recessive nonsyndromic hearing loss 391 test
Autosomal recessive nonsyndromic hearing loss 44 tests
Autosomal recessive nonsyndromic hearing loss 421 test
Autosomal recessive nonsyndromic hearing loss 441 test
Autosomal recessive nonsyndromic hearing loss 481 test
Autosomal recessive nonsyndromic hearing loss 491 test
Autosomal recessive nonsyndromic hearing loss 531 test
Autosomal recessive nonsyndromic hearing loss 591 test
Autosomal recessive nonsyndromic hearing loss 61 test
Autosomal recessive nonsyndromic hearing loss 611 test
Autosomal recessive nonsyndromic hearing loss 631 test
Autosomal recessive nonsyndromic hearing loss 661 test
Autosomal recessive nonsyndromic hearing loss 671 test
Autosomal recessive nonsyndromic hearing loss 681 test
Autosomal recessive nonsyndromic hearing loss 71 test
Autosomal recessive nonsyndromic hearing loss 701 test
Autosomal recessive nonsyndromic hearing loss 741 test
Autosomal recessive nonsyndromic hearing loss 761 test
Autosomal recessive nonsyndromic hearing loss 771 test
Autosomal recessive nonsyndromic hearing loss 791 test
Autosomal recessive nonsyndromic hearing loss 81 test
Autosomal recessive nonsyndromic hearing loss 84A1 test
Autosomal recessive nonsyndromic hearing loss 84B1 test
Autosomal recessive nonsyndromic hearing loss 861 test
Autosomal recessive nonsyndromic hearing loss 881 test
Autosomal recessive nonsyndromic hearing loss 891 test
Autosomal recessive nonsyndromic hearing loss 92 tests
Autosomal recessive nonsyndromic hearing loss 911 test
Autosomal recessive nonsyndromic hearing loss 931 test
Autosomal recessive nonsyndromic hearing loss 972 tests
Autosomal recessive nonsyndromic hearing loss 981 test
Autosomal recessive omodysplasia2 tests
Autosomal recessive optic atrophy, OPA7 type1 test
Autosomal recessive osteopetrosis 12 tests
Autosomal recessive osteopetrosis 22 tests
Autosomal recessive osteopetrosis 42 tests
Autosomal recessive osteopetrosis 52 tests
Autosomal recessive osteopetrosis 62 tests
Autosomal recessive osteopetrosis 72 tests
Autosomal recessive osteopetrosis 82 tests
Autosomal recessive Parkinson disease 142 tests
Autosomal recessive polycystic kidney disease5 tests
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity2 tests
Autosomal recessive proximal renal tubular acidosis1 test
Autosomal recessive Robinow syndrome4 tests
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency2 tests
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency4 tests
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency2 tests
Autosomal recessive spastic paraplegia type 761 test
Autosomal recessive spastic paraplegia type 781 test
Autosomal recessive spinocerebellar ataxia 101 test
Autosomal recessive spinocerebellar ataxia 112 tests
Autosomal recessive spinocerebellar ataxia 124 tests
Autosomal recessive spinocerebellar ataxia 131 test
Autosomal recessive spinocerebellar ataxia 141 test
Autosomal recessive spinocerebellar ataxia 152 tests
Autosomal recessive spinocerebellar ataxia 161 test
Autosomal recessive spinocerebellar ataxia 171 test
Autosomal recessive spinocerebellar ataxia 181 test
Autosomal recessive spinocerebellar ataxia 21 test
Autosomal recessive spinocerebellar ataxia 202 tests
Autosomal recessive spinocerebellar ataxia 71 test
Autosomal recessive spondylometaphyseal dysplasia, Megarbane type2 tests
Autosomal systemic lupus erythematosus type 161 test
Avascular necrosis of femoral head, primary, 12 tests
Avascular necrosis of femoral head, primary, 21 test
Avellino corneal dystrophy1 test
Axenfeld-Rieger syndrome type 14 tests
Axenfeld-Rieger syndrome type 34 tests
Ayme-Gripp syndrome2 tests
Azorean disease2 tests
B4GALT1-congenital disorder of glycosylation2 tests
Bacteremia, susceptibility to, 11 test
Bacteremia, susceptibility to, 21 test
Bailey-Bloch congenital myopathy1 test
Baller-Gerold syndrome2 tests
Bamforth-Lazarus syndrome4 tests
Band heterotopia of brain2 tests
BAP1-related tumor predisposition syndrome2 tests
Baraitser-Winter syndrome 12 tests
Baraitser-winter syndrome 22 tests
Barber-Say syndrome2 tests
Bardet-Biedl syndrome 18 tests
Bardet-Biedl syndrome 102 tests
Bardet-Biedl syndrome 112 tests
Bardet-Biedl syndrome 122 tests
Bardet-Biedl syndrome 132 tests
Bardet-Biedl syndrome 146 tests
Bardet-Biedl syndrome 154 tests
Bardet-Biedl syndrome 162 tests
Bardet-Biedl syndrome 172 tests
Bardet-Biedl syndrome 192 tests
Bardet-Biedl syndrome 22 tests
Bardet-Biedl syndrome 222 tests
Bardet-Biedl syndrome 32 tests
Bardet-Biedl syndrome 42 tests
Bardet-Biedl syndrome 52 tests
Bardet-Biedl syndrome 72 tests
Bardet-Biedl syndrome 82 tests
Bardet-Biedl syndrome 92 tests
Barrett esophagus3 tests
Bartsocas-Papas syndrome 12 tests
Bartter disease type 12 tests
Bartter disease type 22 tests
Bartter disease type 36 tests
Bartter disease type 4A3 tests
Bartter disease type 4B4 tests
Bartter disease type 52 tests
Basal cell carcinoma, susceptibility to, 14 tests
Basal cell carcinoma, susceptibility to, 73 tests
Basal ganglia calcification, idiopathic, 42 tests
Basal ganglia calcification, idiopathic, 52 tests
Basal ganglia calcification, idiopathic, 62 tests
Basal laminar drusen2 tests
Basan syndrome2 tests
Beare-Stevenson cutis gyrata syndrome2 tests
Becker muscular dystrophy6 tests
Beckwith-Wiedemann syndrome14 tests
Benign familial hematuria2 tests
Benign hereditary chorea2 tests
Benign recurrent intrahepatic cholestasis type 11 test
Benign recurrent intrahepatic cholestasis type 21 test
Bent bone dysplasia syndrome 12 tests
BENTA disease1 test
Bernard Soulier syndrome4 tests
Bernard-Soulier syndrome, type A2, autosomal dominant1 test
beta Thalassemia8 tests
Beta-D-mannosidosis2 tests
Beta-thalassemia-X-linked thrombocytopenia syndrome1 test
Bethlem myopathy 1A4 tests
Bethlem myopathy 22 tests
Bietti crystalline corneoretinal dystrophy1 test
Bifunctional peroxisomal enzyme deficiency2 tests
Bilateral frontoparietal polymicrogyria2 tests
Bilateral microtia-deafness-cleft palate syndrome2 tests
Bilateral parasagittal parieto-occipital polymicrogyria1 test
Bile acid malabsorption, primary, 11 test
Biotin-responsive basal ganglia disease2 tests
Biotinidase deficiency2 tests
Birbeck granule deficiency1 test
Birk-Barel syndrome2 tests
Birt-Hogg-Dube syndrome3 tests
Blau syndrome1 test
Bleeding disorder, platelet-type, 13, susceptibility to1 test
Blepharophimosis - intellectual disability syndrome, MKB type1 test
Blepharophimosis - intellectual disability syndrome, SBBYS type2 tests
Blepharophimosis, ptosis, and epicanthus inversus syndrome4 tests
Blepharospasm1 test
Blood group, I system1 test
BLOOD GROUP--LUTHERAN INHIBITOR1 test
Bloom syndrome2 tests
Blue color blindness1 test
BNAR syndrome2 tests
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 101 test
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 111 test
Body mass index quantitative trait locus 121 test
Body mass index quantitative trait locus 141 test
Body mass index quantitative trait locus 181 test
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 41 test
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency1 test
Bohring-Opitz syndrome2 tests
Bombay phenotype1 test
Bone fragility with contractures, arterial rupture, and deafness2 tests
Bone marrow failure syndrome 32 tests
Bone mineral density quantitative trait locus 14 tests
Bone mineral density quantitative trait locus 181 test
Bone osteosarcoma2 tests
Boomerang dysplasia4 tests
Borjeson-Forssman-Lehmann syndrome2 tests
Bosch-Boonstra-Schaaf optic atrophy syndrome2 tests
Bothnia retinal dystrophy1 test
Bowen-Conradi syndrome2 tests
Brachydactyly type A11 test
Brachydactyly type A1C1 test
Brachydactyly type A1D1 test
Brachydactyly type B12 tests
Brachydactyly type B21 test
Brachydactyly type C1 test
Brachydactyly type D2 tests
Brachydactyly type E12 tests
Brachydactyly type E22 tests
Brachydactyly-arterial hypertension syndrome1 test
Brachydactyly-elbow wrist dysplasia syndrome1 test
Brachydactyly-syndactyly syndrome5 tests
Brachyolmia-amelogenesis imperfecta syndrome1 test
Brachyrachia (short spine dysplasia)1 test
Bradyopsia2 tests
Brain small vessel disease 1 with or without ocular anomalies2 tests
Brain-lung-thyroid syndrome4 tests
Branched-chain keto acid dehydrogenase kinase deficiency1 test
Branchiooculofacial syndrome2 tests
Branchiootic syndrome 18 tests
Branchiootic syndrome 32 tests
Branchiootorenal syndrome 14 tests
Branchiootorenal syndrome 22 tests
Breast-ovarian cancer, familial, susceptibility to, 12 tests
Breast-ovarian cancer, familial, susceptibility to, 22 tests
Breast-ovarian cancer, familial, susceptibility to, 31 test
Breast-ovarian cancer, familial, susceptibility to, 41 test
Breasts and/or nipples, aplasia or hypoplasia of, 21 test
Brittle cornea syndrome 11 test
Brittle cornea syndrome 21 test
Brody myopathy2 tests
Bronchiectasis with or without elevated sweat chloride 14 tests
Bronchiectasis with or without elevated sweat chloride 21 test
Brooke-Spiegler syndrome2 tests
Brown-Vialetto-van Laere syndrome 12 tests
Brown-Vialetto-van Laere syndrome 22 tests
Bruck syndrome 12 tests
Bruck syndrome 22 tests
Brugada syndrome 12 tests
Brugada syndrome 21 test
Brugada syndrome 31 test
Brugada syndrome 41 test
Brugada syndrome 52 tests
Brugada syndrome 61 test
Brugada syndrome 72 tests
Brugada syndrome 81 test
Brugada syndrome 91 test
Brunner syndrome3 tests
Budd-Chiari syndrome4 tests
Burkitt lymphoma1 test
Buruli ulcer, susceptibility to1 test
C syndrome2 tests
C1 inhibitor deficiency4 tests
C1Q deficiency6 tests
Café-au-lait macules with pulmonary stenosis4 tests
Calcium oxalate urolithiasis1 test
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome2 tests
Camptodactyly-tall stature-scoliosis-hearing loss syndrome4 tests
Camptomelic dysplasia12 tests
Camptosynpolydactyly, complex2 tests
Candidiasis, familial, 62 tests
Candidiasis, familial, 82 tests
Candidiasis, familial, 92 tests
Capillary infantile hemangioma4 tests
Capillary malformation1 test
Capillary malformation-arteriovenous malformation 12 tests
Carcinoid tumor of intestine2 tests
Carcinoma of pancreas3 tests
Cardiac anomalies - developmental delay - facial dysmorphism syndrome2 tests
Cardiac arrhythmia, ankyrin-B-related2 tests
Cardiac valvular dysplasia, X-linked2 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 12 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 22 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 32 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 42 tests
Cardiofaciocutaneous syndrome 15 tests
Cardiofaciocutaneous syndrome 24 tests
Cardiofaciocutaneous syndrome 32 tests
Cardiofaciocutaneous syndrome 42 tests
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis4 tests
Cardiomyopathy, familial restrictive, 11 test
Cardiomyopathy, familial restrictive, 32 tests
Cardiomyopathy-hypotonia-lactic acidosis syndrome2 tests
Carney complex - trismus - pseudocamptodactyly syndrome2 tests
Carney complex, type 12 tests
Carney-Stratakis syndrome2 tests
Carnitine acylcarnitine translocase deficiency2 tests
Carnitine palmitoyl transferase 1A deficiency2 tests
Carnitine palmitoyl transferase II deficiency, myopathic form2 tests
Carnitine palmitoyl transferase II deficiency, neonatal form4 tests
Carnitine palmitoyl transferase II deficiency, severe infantile form2 tests
CAROTID INTIMAL MEDIAL THICKNESS 12 tests
Carpal tunnel syndrome1 test
Cataract 1 multiple types1 test
Cataract 10 multiple types1 test
Cataract 11 multiple types1 test
Cataract 12 multiple types1 test
Cataract 13 with adult I phenotype1 test
Cataract 14 multiple types1 test
Cataract 15 multiple types1 test
Cataract 16 multiple types1 test
Cataract 17 multiple types1 test
Cataract 181 test
Cataract 19 multiple types1 test
Cataract 2, multiple types1 test
Cataract 20 multiple types1 test
Cataract 21 multiple types1 test
Cataract 22 multiple types1 test
Cataract 231 test
Cataract 3 multiple types1 test
Cataract 301 test
Cataract 31 multiple types1 test
Cataract 331 test
Cataract 34 multiple types1 test
Cataract 361 test
Cataract 381 test
Cataract 39 multiple types1 test
Cataract 4 multiple types1 test
Cataract 401 test
Cataract 412 tests
Cataract 421 test
Cataract 431 test
Cataract 441 test
Cataract 451 test
Cataract 46 juvenile-onset1 test
Cataract 5 multiple types1 test
Cataract 6 multiple types1 test
Cataract 9 multiple types1 test
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome1 test
Catecholaminergic polymorphic ventricular tachycardia 11 test
Catecholaminergic polymorphic ventricular tachycardia 21 test
Catecholaminergic polymorphic ventricular tachycardia 31 test
Catecholaminergic polymorphic ventricular tachycardia 41 test
Catecholaminergic polymorphic ventricular tachycardia 51 test
Catel-Manzke syndrome2 tests
Caudal duplication2 tests
Cayman type cerebellar ataxia1 test
CBL-related disorder1 test
CCDC115-CDG2 tests
CEDNIK syndrome2 tests
Celiac disease, susceptibility to, 31 test
Celiac disease, susceptibility to, 41 test
Cenani-Lenz syndactyly syndrome2 tests
Central core myopathy8 tests
Central precocious puberty 11 test
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 14 tests
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 22 tests
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 34 tests
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 42 tests
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome4 tests
Cerebellar ataxia-hypogonadism syndrome1 test
Cerebellar atrophy, visual impairment, and psychomotor retardation;2 tests
Cerebellar dysfunction with variable cognitive and behavioral abnormalities2 tests
Cerebellar-facial-dental syndrome2 tests
Cerebral amyloid angiopathy, APP-related2 tests
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 12 tests
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 21 test
Cerebral arteriovenous malformation2 tests
Cerebral cavernous malformation3 tests
Cerebral cavernous malformation 21 test
Cerebral cavernous malformation 31 test
Cerebral folate transport deficiency2 tests
Cerebral palsy, spastic quadriplegic, 22 tests
Cerebral palsy, spastic quadriplegic, 32 tests
Cerebro-costo-mandibular syndrome2 tests
Cerebrooculofacioskeletal syndrome 12 tests
Cerebrooculofacioskeletal syndrome 22 tests
Cerebrooculofacioskeletal syndrome 32 tests
Cerebrooculofacioskeletal syndrome 42 tests
Cerebroretinal microangiopathy with calcifications and cysts 12 tests
Cerebroretinal microangiopathy with calcifications and cysts 22 tests
Cernunnos-XLF deficiency2 tests
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)2 tests
Ceroid lipofuscinosis, neuronal, 6A1 test
Cervical cancer1 test
CFHR5 deficiency2 tests
Channelopathy-associated congenital insensitivity to pain, autosomal recessive2 tests
Char syndrome2 tests
Charcot-Marie-Tooth disease axonal type 2C1 test
Charcot-Marie-Tooth disease axonal type 2CC1 test
Charcot-Marie-Tooth disease axonal type 2F2 tests
Charcot-Marie-Tooth disease axonal type 2K3 tests
Charcot-Marie-Tooth disease axonal type 2L1 test
Charcot-Marie-Tooth disease axonal type 2N1 test
Charcot-Marie-Tooth disease axonal type 2O1 test
Charcot-Marie-Tooth disease axonal type 2P1 test
Charcot-Marie-Tooth disease axonal type 2Q1 test
Charcot-Marie-Tooth disease axonal type 2S2 tests
Charcot-Marie-Tooth disease axonal type 2T1 test
Charcot-Marie-Tooth disease axonal type 2U1 test
Charcot-Marie-Tooth disease axonal type 2V1 test
Charcot-Marie-Tooth disease axonal type 2X2 tests
Charcot-Marie-Tooth disease axonal type 2Z1 test
Charcot-Marie-Tooth disease dominant intermediate B2 tests
Charcot-Marie-Tooth disease dominant intermediate C1 test
Charcot-Marie-Tooth disease dominant intermediate D2 tests
Charcot-Marie-Tooth disease dominant intermediate E1 test
Charcot-Marie-Tooth disease dominant intermediate F1 test
Charcot-Marie-Tooth disease recessive intermediate A2 tests
Charcot-Marie-Tooth disease recessive intermediate B1 test
Charcot-Marie-Tooth disease recessive intermediate C1 test
Charcot-Marie-Tooth disease recessive intermediate D1 test
Charcot-Marie-Tooth disease type 1B2 tests
Charcot-Marie-Tooth disease type 1C1 test
Charcot-Marie-Tooth disease type 1D2 tests
Charcot-Marie-Tooth disease type 1E2 tests
Charcot-Marie-Tooth disease type 1F1 test
Charcot-Marie-Tooth disease type 2A11 test
Charcot-Marie-Tooth disease type 2A22 tests
Charcot-Marie-Tooth disease type 2B2 tests
Charcot-Marie-Tooth disease type 2B12 tests
Charcot-Marie-Tooth disease type 2B21 test
Charcot-Marie-Tooth disease type 2E1 test
Charcot-Marie-Tooth disease type 2I2 tests
Charcot-Marie-Tooth disease type 2J2 tests
Charcot-Marie-Tooth disease type 2R1 test
Charcot-Marie-Tooth disease type 2Y1 test
Charcot-Marie-Tooth disease type 4A2 tests
Charcot-Marie-Tooth disease type 4B12 tests
Charcot-Marie-Tooth disease type 4B22 tests
Charcot-Marie-Tooth disease type 4B31 test
Charcot-Marie-Tooth disease type 4C2 tests
Charcot-Marie-Tooth disease type 4D1 test
Charcot-Marie-Tooth disease type 4E8 tests
Charcot-Marie-Tooth disease type 4F2 tests
Charcot-Marie-Tooth disease type 4G1 test
Charcot-Marie-Tooth disease type 4H1 test
Charcot-Marie-Tooth disease type 4J1 test
Charcot-Marie-Tooth disease type 4K1 test
Charcot-Marie-Tooth disease X-linked dominant 12 tests
Charcot-Marie-Tooth disease X-linked dominant 61 test
Charcot-Marie-Tooth disease X-linked recessive 51 test
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;2 tests
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive2 tests
Charcot-Marie-Tooth disease, type IA2 tests
CHARGE syndrome6 tests
Charlevoix-Saguenay spastic ataxia1 test
Chilblain lupus 12 tests
Chilblain lupus 22 tests
Child syndrome3 tests
Childhood apraxia of speech1 test
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency2 tests
Childhood hypophosphatasia2 tests
Childhood onset GLUT1 deficiency syndrome 24 tests
CHIME syndrome3 tests
Chitayat syndrome2 tests
Chitotriosidase deficiency1 test
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome2 tests
Cholestanol storage disease2 tests
Cholestasis, intrahepatic, of pregnancy, 11 test
Cholestasis, intrahepatic, of pregnancy, 32 tests
Cholestasis, progressive familial intrahepatic, 42 tests
Cholestasis, progressive familial intrahepatic, 52 tests
Chondrocalcinosis 22 tests
Chondrodysplasia Blomstrand type2 tests
Chondrodysplasia punctata 2 X-linked dominant2 tests
Chondrodysplasia with joint dislocations, gPAPP type2 tests
Chondrosarcoma2 tests
Chorea-acanthocytosis1 test
Choroid plexus papilloma6 tests
Choroidal dystrophy, central areolar 23 tests
Choroideremia2 tests
Christianson syndrome2 tests
Chromosome 10q23 deletion syndrome2 tests
Chromosome 13q14 deletion syndrome2 tests
Chromosome 14q11-q22 deletion syndrome1 test
Chromosome 15q11.2 deletion syndrome2 tests
Chromosome 15q13.3 microdeletion syndrome2 tests
Chromosome 15q25 deletion syndrome2 tests
Chromosome 15q26-qter deletion syndrome2 tests
Chromosome 16p11.2 duplication syndrome3 tests
Chromosome 16p12.2-p11.2 deletion syndrome2 tests
Chromosome 16p13.3 duplication syndrome2 tests
Chromosome 16q22 deletion syndrome2 tests
Chromosome 17p13.1 deletion syndrome2 tests
Chromosome 17p13.3 duplication syndrome2 tests
Chromosome 17P13.3, telomeric, duplication syndrome3 tests
Chromosome 17q11.2 deletion syndrome, 1.4Mb2 tests
Chromosome 17q12 deletion syndrome2 tests
Chromosome 17q12 duplication syndrome2 tests
Chromosome 17q21.31 duplication syndrome2 tests
Chromosome 17q23.1-q23.2 deletion syndrome2 tests
Chromosome 19p13.13 deletion syndrome3 tests
Chromosome 19q13.11 deletion syndrome, distal2 tests
Chromosome 1p32-p31 deletion syndrome2 tests
Chromosome 1p36 deletion syndrome2 tests
Chromosome 1q21.1 deletion syndrome2 tests
Chromosome 1q21.1 duplication syndrome2 tests
Chromosome 1q41-q42 deletion syndrome2 tests
Chromosome 22q11.2 deletion syndrome, distal2 tests
Chromosome 22q11.2 microduplication syndrome2 tests
Chromosome 22q13 duplication syndrome2 tests
Chromosome 2p12-p11.2 deletion syndrome2 tests
Chromosome 2p16.1-p15 deletion syndrome2 tests
Chromosome 2p16.3 deletion syndrome3 tests
Chromosome 2q31.1 duplication syndrome2 tests
Chromosome 2q31.2 deletion syndrome2 tests
Chromosome 2q32-q33 deletion syndrome2 tests
Chromosome 2q37 deletion syndrome2 tests
Chromosome 3q13.31 deletion syndrome2 tests
Chromosome 3q29 microdeletion syndrome2 tests
Chromosome 3q29 microduplication syndrome2 tests
Chromosome 4q21 deletion syndrome2 tests
Chromosome 4Q32.1-q32.2 triplication syndrome2 tests
Chromosome 5p13 duplication syndrome2 tests
Chromosome 5q12 deletion syndrome2 tests
Chromosome 6pter-p24 deletion syndrome2 tests
Chromosome 6q11-q14 deletion syndrome2 tests
Chromosome 6q24-q25 deletion syndrome2 tests
Chromosome 8q21.11 deletion syndrome2 tests
Chromosome 9p deletion syndrome2 tests
Chromosome Xp11.22 duplication syndrome3 tests
Chromosome Xp11.23-p11.22 duplication syndrome2 tests
Chromosome Xp21 deletion syndrome2 tests
Chromosome Xq28 duplication syndrome2 tests
Chronic infantile neurological, cutaneous and articular syndrome2 tests
Chronic obstructive pulmonary disease6 tests
Chudley-McCullough syndrome2 tests
Chuvash polycythemia2 tests
Chylomicron retention disease1 test
Chédiak-Higashi syndrome2 tests
CIDEC-related familial partial lipodystrophy1 test
Ciliary dyskinesia, primary, 36, X-linked1 test
Citrullinemia type I2 tests
Citrullinemia type II2 tests
CK syndrome2 tests
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency8 tests
Classic dopamine transporter deficiency syndrome1 test
Classic Hodgkin lymphoma1 test
Classic homocystinuria4 tests
Cleft lip/palate-ectodermal dysplasia syndrome4 tests
Cleft palate with or without ankyloglossia, X-linked2 tests
Cleidocranial dysostosis4 tests
CLOVES syndrome3 tests
Clubfoot2 tests
COACH syndrome 16 tests
Cobalamin C disease2 tests
Cobblestone lissencephaly without muscular or ocular involvement2 tests
Cockayne syndrome type 12 tests
Cockayne syndrome type 22 tests
Cocoon syndrome2 tests
CODAS syndrome2 tests
Coenzyme Q10 deficiency, primary, 12 tests
Coenzyme Q10 deficiency, primary, 32 tests
Coffin-Lowry syndrome4 tests
Coffin-Siris syndrome 14 tests
Coffin-Siris syndrome 52 tests
COG1 congenital disorder of glycosylation2 tests
COG4-congenital disorder of glycosylation2 tests
COG5-congenital disorder of glycosylation2 tests
COG6-congenital disorder of glycosylation2 tests
COG7 congenital disorder of glycosylation2 tests
COG8-congenital disorder of glycosylation2 tests
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome2 tests
Cognitive impairment with or without cerebellar ataxia2 tests
Cohen syndrome4 tests
COLCHICINE RESISTANCE1 test
Cold-induced sweating syndrome 12 tests
Cold-induced sweating syndrome 22 tests
Cole-Carpenter syndrome 12 tests
Cole-Carpenter syndrome 22 tests
Coloboma of optic nerve4 tests
Coloboma, ocular, autosomal recessive1 test
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness4 tests
Colobomatous microphthalmia-rhizomelic dysplasia syndrome2 tests
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome1 test
Colorectal cancer29 tests
Colorectal cancer, hereditary nonpolyposis, type 21 test
Colorectal cancer, hereditary nonpolyposis, type 61 test
Colorectal cancer, hereditary nonpolyposis, type 74 tests
Colorectal cancer, susceptibility to, 11 test
Colorectal cancer, susceptibility to, 102 tests
Colorectal cancer, susceptibility to, 121 test
Colorectal cancer, susceptibility to, 31 test
Combined deficiency of sialidase AND beta galactosidase2 tests
Combined immunodeficiency due to CD3gamma deficiency2 tests
Combined immunodeficiency due to DOCK8 deficiency2 tests
Combined immunodeficiency due to LRBA deficiency2 tests
Combined immunodeficiency due to MALT1 deficiency2 tests
Combined immunodeficiency due to moesin deficiency2 tests
Combined immunodeficiency due to ORAI1 deficiency2 tests
Combined immunodeficiency due to OX40 deficiency2 tests
Combined immunodeficiency due to partial RAG1 deficiency1 test
Combined immunodeficiency due to STIM1 deficiency2 tests
Combined immunodeficiency due to STK4 deficiency2 tests
Combined immunodeficiency due to ZAP70 deficiency2 tests
Combined immunodeficiency with skin granulomas4 tests
Combined immunodeficiency, X-linked2 tests
Combined malonic and methylmalonic acidemia2 tests
Combined oxidative phosphorylation defect type 112 tests
Combined oxidative phosphorylation defect type 132 tests
Combined oxidative phosphorylation defect type 142 tests
Combined oxidative phosphorylation defect type 152 tests
Combined oxidative phosphorylation defect type 172 tests
Combined oxidative phosphorylation defect type 22 tests
Combined oxidative phosphorylation defect type 202 tests
Combined oxidative phosphorylation defect type 212 tests
Combined oxidative phosphorylation defect type 232 tests
Combined oxidative phosphorylation defect type 242 tests
Combined oxidative phosphorylation defect type 252 tests
Combined oxidative phosphorylation defect type 262 tests
Combined oxidative phosphorylation defect type 272 tests
Combined oxidative phosphorylation defect type 302 tests
Combined oxidative phosphorylation defect type 42 tests
Combined oxidative phosphorylation defect type 72 tests
Combined oxidative phosphorylation defect type 82 tests
Combined oxidative phosphorylation defect type 92 tests
Combined oxidative phosphorylation deficiency 192 tests
Combined oxidative phosphorylation deficiency 222 tests
Combined oxidative phosphorylation deficiency 282 tests
Combined oxidative phosphorylation deficiency 292 tests
Combined PSAP deficiency2 tests
Complement component 2 deficiency2 tests
Complement component 3 deficiency2 tests
Complement component 4a deficiency2 tests
Complement component 4b deficiency2 tests
Complement component 5 deficiency2 tests
Complement component 6 deficiency4 tests
Complement component 7 deficiency2 tests
Complement component 9 deficiency2 tests
Complement component C1s deficiency2 tests
Complement factor b deficiency2 tests
Complex cortical dysplasia with other brain malformations 12 tests
Complex cortical dysplasia with other brain malformations 22 tests
Complex cortical dysplasia with other brain malformations 32 tests
Complex cortical dysplasia with other brain malformations 52 tests
Complex cortical dysplasia with other brain malformations 64 tests
Complex cortical dysplasia with other brain malformations 72 tests
Complex lethal osteochondrodysplasia2 tests
Compton-North congenital myopathy2 tests
Conduction disorder of the heart1 test
Cone dystrophy 32 tests
Cone dystrophy 41 test
Cone dystrophy with supernormal rod response1 test
Cone monochromatism2 tests
Cone-rod dystrophy 101 test
Cone-rod dystrophy 111 test
Cone-rod dystrophy 121 test
Cone-rod dystrophy 132 tests
Cone-rod dystrophy 152 tests
Cone-rod dystrophy 162 tests
Cone-rod dystrophy 181 test
Cone-rod dystrophy 191 test
Cone-rod dystrophy 22 tests
Cone-rod dystrophy 201 test
Cone-rod dystrophy 211 test
Cone-rod dystrophy 32 tests
Cone-rod dystrophy 51 test
Cone-rod dystrophy 62 tests
Cone-rod dystrophy 71 test
Cone-rod dystrophy 91 test
Cone-rod dystrophy and hearing loss 11 test
Cone-rod synaptic disorder, congenital nonprogressive1 test
Congenital absence of salivary gland2 tests
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency2 tests
Congenital adrenal hypoplasia, X-linked2 tests
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency2 tests
Congenital afibrinogenemia10 tests
Congenital amegakaryocytic thrombocytopenia2 tests
Congenital anomalies of kidney and urinary tract 11 test
Congenital anomalies of kidney and urinary tract 22 tests
Congenital bilateral aplasia of vas deferens from CFTR mutation2 tests
Congenital bile acid synthesis defect 12 tests
Congenital bile acid synthesis defect 22 tests
Congenital bile acid synthesis defect 32 tests
Congenital bile acid synthesis defect 42 tests
Congenital bile acid synthesis defect 52 tests
Congenital bile acid synthesis defect 62 tests
Congenital brain dysgenesis due to glutamine synthetase deficiency2 tests
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome2 tests
Congenital cataracts-facial dysmorphism-neuropathy syndrome2 tests
Congenital central hypoventilation24 tests
Congenital contractural arachnodactyly2 tests
Congenital contractures of the limbs and face, hypotonia, and developmental delay2 tests
Congenital defect of folate absorption1 test
Congenital diarrhea 5 with tufting enteropathy2 tests
Congenital diarrhea 62 tests
Congenital diarrhea 7 with exudative enteropathy2 tests
Congenital disorder of deglycosylation2 tests
Congenital disorder of glycosylation type 1E2 tests
Congenital disorder of glycosylation type Ir2 tests
Congenital disorder of glycosylation, type IAA2 tests
Congenital dyserythropoietic anemia type 42 tests
Congenital dyserythropoietic anemia type type 1B2 tests
Congenital dyserythropoietic anemia, type I2 tests
Congenital dyserythropoietic anemia, type II3 tests
Congenital fibrosis of extraocular muscles type 12 tests
Congenital generalized lipodystrophy type 12 tests
Congenital generalized lipodystrophy type 22 tests
Congenital generalized lipodystrophy type 32 tests
Congenital generalized lipodystrophy type 42 tests
Congenital glucose-galactose malabsorption2 tests
Congenital heart defects and ectodermal dysplasia2 tests
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder2 tests
Congenital heart defects, multiple types, 22 tests
Congenital heart defects, multiple types, 42 tests
Congenital heart defects, multiple types, 62 tests
Congenital hereditary endothelial dystrophy of cornea1 test
Congenital hyperammonemia, type I3 tests
Congenital hypotrichosis with juvenile macular dystrophy1 test
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome2 tests
Congenital insensitivity to pain-hypohidrosis syndrome1 test
Congenital isolated adrenocorticotropic hormone deficiency2 tests
Congenital lactase deficiency2 tests
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type2 tests
Congenital lipoid adrenal hyperplasia due to STAR deficency2 tests
Congenital malabsorptive diarrhea 42 tests
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome2 tests
Congenital microvillous atrophy6 tests
Congenital multicore myopathy with external ophthalmoplegia4 tests
Congenital muscular dystrophy due to integrin alpha-7 deficiency2 tests
Congenital muscular dystrophy with intellectual disability and severe epilepsy2 tests
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome2 tests
Congenital muscular hypertrophy-cerebral syndrome2 tests
Congenital myasthenic syndrome 102 tests
Congenital myasthenic syndrome 112 tests
Congenital myasthenic syndrome 122 tests
Congenital myasthenic syndrome 132 tests
Congenital myasthenic syndrome 142 tests
Congenital myasthenic syndrome 152 tests
Congenital myasthenic syndrome 164 tests
Congenital myasthenic syndrome 172 tests
Congenital myasthenic syndrome 182 tests
Congenital myasthenic syndrome 192 tests
Congenital myasthenic syndrome 202 tests
Congenital myasthenic syndrome 212 tests
Congenital myasthenic syndrome 2A2 tests
Congenital myasthenic syndrome 2C2 tests
Congenital myasthenic syndrome 3A2 tests
Congenital myasthenic syndrome 3B2 tests
Congenital myasthenic syndrome 3C2 tests
Congenital myasthenic syndrome 4A2 tests
Congenital myasthenic syndrome 4B2 tests
Congenital myasthenic syndrome 4C2 tests
Congenital myasthenic syndrome 52 tests
Congenital myasthenic syndrome 72 tests
Congenital myasthenic syndrome 82 tests
Congenital myasthenic syndrome 91 test
Congenital myopathy 234 tests
Congenital myopathy 4B, autosomal recessive4 tests
Congenital myopathy with fiber type disproportion6 tests
Congenital myopathy with internal nuclei and atypical cores2 tests
Congenital myotonia, autosomal dominant form8 tests
Congenital myotonia, autosomal recessive form6 tests
Congenital neutropenia-myelofibrosis-nephromegaly syndrome2 tests
Congenital nongoitrous hypothyroidism 61 test
Congenital plasminogen activator inhibitor type 1 deficiency2 tests
Congenital primary aphakia1 test
Congenital prothrombin deficiency2 tests
Congenital reticular ichthyosiform erythroderma1 test
Congenital secretory diarrhea, chloride type4 tests
Congenital secretory sodium diarrhea 32 tests
Congenital secretory sodium diarrhea 82 tests
Congenital sensory neuropathy with selective loss of small myelinated fibers1 test
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome2 tests
Congenital stationary night blindness 1A1 test
Congenital stationary night blindness 1B1 test
Congenital stationary night blindness 1C1 test
Congenital stationary night blindness 1D1 test
Congenital stationary night blindness 1E1 test
Congenital stationary night blindness 1F1 test
Congenital stationary night blindness 1G1 test
Congenital stationary night blindness 1H1 test
Congenital stationary night blindness 2A1 test
Congenital stationary night blindness autosomal dominant 12 tests
Congenital stationary night blindness autosomal dominant 21 test
Congenital stationary night blindness autosomal dominant 31 test
Congenital vertical talus2 tests
Conotruncal heart malformations12 tests
Constitutional megaloblastic anemia with severe neurologic disease2 tests
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A2 tests
Cornea plana 21 test
Corneal dystrophy, Fuchs endothelial, 11 test
Corneal dystrophy, Fuchs endothelial, 31 test
Corneal dystrophy, Fuchs endothelial, 41 test
Corneal dystrophy, Fuchs endothelial, 61 test
Corneal dystrophy, Fuchs endothelial, 81 test
Corneal dystrophy, lattice type 3A1 test
Corneal dystrophy, Meesmann, 12 tests
Corneal dystrophy-perceptive deafness syndrome1 test
Cornelia de Lange syndrome 14 tests
Cornelia de Lange syndrome 32 tests
Cornelia de Lange syndrome 42 tests
Cornelia de Lange syndrome 52 tests
Coronary artery disease, autosomal dominant 21 test
Coronary artery disease, autosomal dominant, 11 test
Coronary heart disease, susceptibility to, 12 tests
Coronary heart disease, susceptibility to, 51 test
Coronary heart disease, susceptibility to, 61 test
Coronary heart disease, susceptibility to, 71 test
Corpus callosum agenesis-abnormal genitalia syndrome6 tests
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome2 tests
Cortical dysplasia-focal epilepsy syndrome8 tests
Corticosteroid-binding globulin deficiency1 test
Corticosterone 18-monooxygenase deficiency3 tests
Corticosterone methyloxidase type 2 deficiency1 test
Cortisone reductase deficiency 11 test
Cortisone reductase deficiency 21 test
Costello syndrome8 tests
Cowden syndrome 16 tests
Cowden syndrome 41 test
Cowden syndrome 51 test
Cowden syndrome 61 test
Cowden syndrome 71 test
Coxopodopatellar syndrome2 tests
Craniodiaphyseal dysplasia, autosomal dominant2 tests
Cranioectodermal dysplasia 12 tests
Cranioectodermal dysplasia 22 tests
Cranioectodermal dysplasia 32 tests
Cranioectodermal dysplasia 42 tests
Craniofacial anomalies and anterior segment dysgenesis syndrome2 tests
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 12 tests
Craniofacial dysplasia - osteopenia syndrome2 tests
Craniofacial-deafness-hand syndrome4 tests
Craniofrontonasal syndrome2 tests
Craniolenticulosutural dysplasia2 tests
Craniometaphyseal dysplasia, autosomal dominant1 test
Craniometaphyseal dysplasia, autosomal recessive1 test
Craniosynostosis 26 tests
Craniosynostosis 42 tests
Craniosynostosis 5, susceptibility to4 tests
Craniosynostosis 64 tests
Craniosynostosis and dental anomalies2 tests
Creatine transporter deficiency4 tests
Crigler-Najjar syndrome type 12 tests
Crigler-Najjar syndrome, type II2 tests
Crouzon syndrome2 tests
Crouzon syndrome-acanthosis nigricans syndrome4 tests
Cryohydrocytosis1 test
Cryptorchidism1 test
Cryptosporidiosis-chronic cholangitis-liver disease syndrome2 tests
Currarino triad2 tests
Curry-Hall syndrome8 tests
Curry-Jones syndrome2 tests
Cushing syndrome2 tests
Cutaneous porphyria4 tests
Cutis laxa with osteodystrophy3 tests
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies2 tests
Cutis laxa, autosomal dominant 12 tests
Cutis laxa, autosomal dominant 22 tests
Cutis laxa, autosomal dominant 32 tests
Cutis laxa, autosomal recessive, type 1A2 tests
Cutis laxa, autosomal recessive, type 1B2 tests
Cutis laxa, X-linked4 tests
Cyanosis, transient neonatal1 test
Cyclical neutropenia2 tests
Cystathioninuria2 tests
Cystic fibrosis14 tests
Cystic leukoencephalopathy without megalencephaly2 tests
Cystinuria8 tests
D-2-hydroxyglutaric aciduria 14 tests
D-2-hydroxyglutaric aciduria 22 tests
D-Glyceric aciduria2 tests
Dalmatian hypouricemia1 test
Dandy-Walker syndrome2 tests
Danon disease2 tests
DDX41-related hematologic malignancy predisposition syndrome1 test
DE SANCTIS-CACCHIONE SYNDROME2 tests
Deafness dystonia syndrome2 tests
Deafness with labyrinthine aplasia, microtia, and microdontia1 test
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 11 test
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome2 tests
Deafness-infertility syndrome1 test
Deafness-lymphedema-leukemia syndrome6 tests
Deficiency of 2-methylbutyryl-CoA dehydrogenase2 tests
Deficiency of 3-hydroxyacyl-CoA dehydrogenase2 tests
Deficiency of acetyl-CoA acetyltransferase2 tests
Deficiency of alpha-mannosidase2 tests
Deficiency of aromatic-L-amino-acid decarboxylase2 tests
Deficiency of beta-ureidopropionase2 tests
Deficiency of bisphosphoglycerate mutase1 test
Deficiency of butyryl-CoA dehydrogenase2 tests
Deficiency of cytochrome-b5 reductase4 tests
Deficiency of ferroxidase4 tests
Deficiency of galactokinase2 tests
Deficiency of guanidinoacetate methyltransferase2 tests
Deficiency of hyaluronoglucosaminidase2 tests
Deficiency of hydroxymethylglutaryl-CoA lyase2 tests
Deficiency of iodide peroxidase2 tests
Deficiency of isobutyryl-CoA dehydrogenase2 tests
Deficiency of malonyl-CoA decarboxylase4 tests
Deficiency of phosphoserine phosphatase2 tests
Deficiency of ribose-5-phosphate isomerase2 tests
Deficiency of steroid 11-beta-monooxygenase2 tests
Deficiency of steroid 17-alpha-monooxygenase10 tests
Deficiency of transaldolase2 tests
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase4 tests
Dehydrated hereditary stomatocytosis 22 tests
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema2 tests
Dejerine-Sottas disease16 tests
Deletion of long arm of chromosome 182 tests
Deletion of short arm of chromosome 182 tests
Dengue virus, susceptibility to2 tests
Dent disease type 12 tests
Dent disease type 22 tests
Dentatorubral-pallidoluysian atrophy2 tests
Denticles1 test
Dentin dysplasia type I1 test
Dentinogenesis imperfecta type 21 test
Dentinogenesis imperfecta type 31 test
Dermatitis, atopic, 21 test
Dermatofibrosarcoma protuberans2 tests
Dermatofibrosis lenticularis disseminata4 tests
Dermatopathia pigmentosa reticularis2 tests
DeSanto-Shinawi syndrome due to WAC point mutation2 tests
Desbuquois dysplasia 12 tests
Desbuquois dysplasia 22 tests
Desmin-related myofibrillar myopathy2 tests
Desmoid disease, hereditary2 tests
Desmosterolosis1 test
Deuteranomaly1 test
Developmental and epileptic encephalopathy 942 tests
Developmental and epileptic encephalopathy, 14 tests
Developmental and epileptic encephalopathy, 112 tests
Developmental and epileptic encephalopathy, 122 tests
Developmental and epileptic encephalopathy, 132 tests
Developmental and epileptic encephalopathy, 142 tests
Developmental and epileptic encephalopathy, 152 tests
Developmental and epileptic encephalopathy, 162 tests
Developmental and epileptic encephalopathy, 172 tests
Developmental and epileptic encephalopathy, 182 tests
Developmental and epileptic encephalopathy, 192 tests
Developmental and epileptic encephalopathy, 24 tests
Developmental and epileptic encephalopathy, 212 tests
Developmental and epileptic encephalopathy, 232 tests
Developmental and epileptic encephalopathy, 242 tests
Developmental and epileptic encephalopathy, 252 tests
Developmental and epileptic encephalopathy, 262 tests
Developmental and epileptic encephalopathy, 274 tests
Developmental and epileptic encephalopathy, 284 tests
Developmental and epileptic encephalopathy, 292 tests
Developmental and epileptic encephalopathy, 302 tests
Developmental and epileptic encephalopathy, 31A2 tests
Developmental and epileptic encephalopathy, 322 tests
Developmental and epileptic encephalopathy, 332 tests
Developmental and epileptic encephalopathy, 342 tests
Developmental and epileptic encephalopathy, 352 tests
Developmental and epileptic encephalopathy, 364 tests
Developmental and epileptic encephalopathy, 372 tests
Developmental and epileptic encephalopathy, 382 tests
Developmental and epileptic encephalopathy, 392 tests
Developmental and epileptic encephalopathy, 44 tests
Developmental and epileptic encephalopathy, 402 tests
Developmental and epileptic encephalopathy, 412 tests
Developmental and epileptic encephalopathy, 424 tests
Developmental and epileptic encephalopathy, 431 test
Developmental and epileptic encephalopathy, 442 tests
Developmental and epileptic encephalopathy, 452 tests
Developmental and epileptic encephalopathy, 462 tests
Developmental and epileptic encephalopathy, 472 tests
Developmental and epileptic encephalopathy, 482 tests
Developmental and epileptic encephalopathy, 492 tests
Developmental and epileptic encephalopathy, 52 tests
Developmental and epileptic encephalopathy, 502 tests
Developmental and epileptic encephalopathy, 512 tests
Developmental and epileptic encephalopathy, 522 tests
Developmental and epileptic encephalopathy, 532 tests
Developmental and epileptic encephalopathy, 542 tests
Developmental and epileptic encephalopathy, 74 tests
Developmental and epileptic encephalopathy, 94 tests
Developmental delay with autism spectrum disorder and gait instability2 tests
Developmental delay with short stature, dysmorphic facial features, and sparse hair2 tests
Developmental malformations-deafness-dystonia syndrome1 test
Diabetes insipidus, nephrogenic, autosomal1 test
Diabetes insipidus, nephrogenic, X-linked1 test
Diabetes mellitus type 18 tests
Diabetes mellitus, ketosis-prone1 test
Diabetes mellitus, noninsulin-dependent, 11 test
Diabetes mellitus, noninsulin-dependent, 51 test
Diabetes mellitus, transient neonatal, 12 tests
Diabetes mellitus, transient neonatal, 22 tests
Diabetes mellitus, transient neonatal, 31 test
Diamond-Blackfan anemia 14 tests
Diamond-Blackfan anemia 104 tests
Diamond-Blackfan anemia 112 tests
Diamond-Blackfan anemia 122 tests
Diamond-Blackfan anemia 132 tests
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis2 tests
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis2 tests
Diamond-Blackfan anemia 32 tests
Diamond-Blackfan anemia 44 tests
Diamond-Blackfan anemia 54 tests
Diamond-Blackfan anemia 64 tests
Diamond-Blackfan anemia 74 tests
Diamond-Blackfan anemia 82 tests
Diamond-Blackfan anemia 92 tests
Diaphanospondylodysostosis2 tests
Diaphragmatic hernia 31 test
Diaphyseal dysplasia2 tests
Diaphyseal medullary stenosis-bone malignancy syndrome1 test
Dias-Logan syndrome2 tests
Diastrophic dysplasia2 tests
Dicarboxylic aminoaciduria2 tests
DICER1-related tumor predisposition1 test
Diffuse nonepidermolytic palmoplantar keratoderma1 test
DiGeorge syndrome3 tests
Dihydropteridine reductase deficiency2 tests
Dihydropyrimidinase deficiency2 tests
Dihydropyrimidine dehydrogenase deficiency7 tests
Dilated cardiomyopathy 1A2 tests
Dilated cardiomyopathy 1AA2 tests
Dilated cardiomyopathy 1BB1 test
Dilated cardiomyopathy 1C3 tests
Dilated cardiomyopathy 1CC1 test
Dilated cardiomyopathy 1D4 tests
Dilated cardiomyopathy 1DD1 test
Dilated cardiomyopathy 1E2 tests
Dilated cardiomyopathy 1EE1 test
Dilated cardiomyopathy 1FF1 test
Dilated cardiomyopathy 1G1 test
Dilated cardiomyopathy 1GG1 test
Dilated cardiomyopathy 1HH2 tests
Dilated cardiomyopathy 1I1 test
Dilated cardiomyopathy 1II1 test
Dilated cardiomyopathy 1J1 test
Dilated cardiomyopathy 1JJ1 test
Dilated cardiomyopathy 1KK3 tests
Dilated cardiomyopathy 1L2 tests
Dilated cardiomyopathy 1M1 test
Dilated cardiomyopathy 1NN1 test
Dilated cardiomyopathy 1O1 test
Dilated cardiomyopathy 1P1 test
Dilated cardiomyopathy 1R2 tests
Dilated cardiomyopathy 1S4 tests
Dilated cardiomyopathy 1U2 tests
Dilated cardiomyopathy 1V1 test
Dilated cardiomyopathy 1W1 test
Dilated cardiomyopathy 1X2 tests
Dilated cardiomyopathy 1Y2 tests
Dilated cardiomyopathy 1Z1 test
Dilated cardiomyopathy 2A1 test
Dilated cardiomyopathy 2B1 test
Dilated cardiomyopathy 3B2 tests
Dimethylglycine dehydrogenase deficiency2 tests
Disorder due cytochrome p450 CYP2D6 variant5 tests
Distal 10q deletion syndrome2 tests
Distal 16p11.2 microdeletion syndrome1 test
Distal 7q11.23 microdeletion syndrome2 tests
Distal arthrogryposis type 2B18 tests
Distal arthrogryposis type 5D2 tests
Distal myopathy with anterior tibial onset4 tests
Distal myopathy with posterior leg and anterior hand involvement2 tests
Distal myopathy, Tateyama type4 tests
Distichiasis-lymphedema syndrome4 tests
Dizygotic twins2 tests
DK1-congenital disorder of glycosylation2 tests
DNA ligase IV deficiency2 tests
DOCK2 deficiency2 tests
Dominant beta-thalassemia4 tests
Dominant dystrophic epidermolysis bullosa with absence of skin4 tests
Donnai-Barrow syndrome2 tests
DOORS syndrome2 tests
Dopa-responsive dystonia due to sepiapterin reductase deficiency1 test
Dowling-Degos disease 16 tests
Dowling-Degos disease 22 tests
Dowling-Degos disease 42 tests
Down syndrome1 test
Doyne honeycomb retinal dystrophy1 test
DPAGT1-congenital disorder of glycosylation2 tests
DPM3-congenital disorder of glycosylation2 tests
Drash syndrome4 tests
DRUG METABOLISM, POOR, CYP2C19-RELATED9 tests
Duane retraction syndrome 21 test
Duane retraction syndrome 3 with or without deafness1 test
Duane-radial ray syndrome4 tests
Dubin-Johnson syndrome2 tests
Duchenne muscular dystrophy4 tests
Dyggve-Melchior-Clausen syndrome2 tests
DYRK1A-related intellectual disability syndrome2 tests
Dyschromatosis universalis hereditaria 31 test
Dyskeratosis congenita, autosomal dominant 12 tests
Dyskeratosis congenita, autosomal dominant 28 tests
Dyskeratosis congenita, autosomal dominant 32 tests
Dyskeratosis congenita, autosomal dominant 62 tests
Dyskeratosis congenita, autosomal recessive 12 tests
Dyskeratosis congenita, autosomal recessive 22 tests
Dyskeratosis congenita, autosomal recessive 32 tests
Dyskeratosis congenita, autosomal recessive 54 tests
Dyskeratosis congenita, autosomal recessive 62 tests
Dyskeratosis congenita, X-linked4 tests
Dyskinesia with orofacial involvement, autosomal dominant1 test
Dyslexia, susceptibility to, 11 test
Dyslexia, susceptibility to, 21 test
Dystonia 122 tests
Dystonia 162 tests
Dystonia 231 test
Dystonia 241 test
Dystonia 251 test
Dystonia 271 test
Dystonia 28, childhood-onset1 test
Dystonia 52 tests
Dystonia 92 tests
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities1 test
Early myoclonic encephalopathy2 tests
Early-onset generalized limb-onset dystonia4 tests
Early-onset Lafora body disease2 tests
Early-onset myopathy with fatal cardiomyopathy2 tests
Early-onset Parkinson disease 201 test
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome2 tests
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome2 tests
EAST syndrome1 test
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant2 tests
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive2 tests
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant3 tests
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive1 test
Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type2 tests
Ectodermal dysplasia 13, hair/tooth type2 tests
Ectodermal dysplasia 4, hair/nail type2 tests
Ectodermal dysplasia 7, hair/nail type2 tests
Ectodermal dysplasia 9, hair/nail type2 tests
Ectodermal dysplasia and immunodeficiency 12 tests
Ectodermal dysplasia and immunodeficiency 22 tests
Ectodermal dysplasia-syndactyly syndrome 12 tests
Ectopia lentis 1, isolated, autosomal dominant2 tests
Ectopia lentis et pupillae1 test
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 32 tests
Eculizumab, poor response to1 test
EDICT syndrome2 tests
EEM syndrome2 tests
Efavirenz response5 tests
Ehlers-Danlos syndrome due to tenascin-X deficiency2 tests
Ehlers-Danlos syndrome progeroid type1 test
Ehlers-Danlos syndrome, arthrochalasia type4 tests
Ehlers-Danlos syndrome, cardiac valvular type2 tests
Ehlers-Danlos syndrome, classic type5 tests
Ehlers-Danlos syndrome, dermatosparaxis type1 test
Ehlers-Danlos syndrome, kyphoscoliotic type 11 test
Ehlers-Danlos syndrome, kyphoscoliotic type, 21 test
Ehlers-Danlos syndrome, musculocontractural type1 test
Ehlers-Danlos syndrome, musculocontractural type 21 test
Ehlers-Danlos syndrome, periodontal type 11 test
Ehlers-Danlos syndrome, periodontal type 21 test
Ehlers-Danlos syndrome, spondylocheirodysplastic type2 tests
Ehlers-Danlos syndrome, spondylodysplastic type, 21 test
Ehlers-Danlos syndrome, type 42 tests
Eichsfeld type congenital muscular dystrophy2 tests
Eiken syndrome1 test
Elevated circulating creatine kinase concentration2 tests
Elliptocytosis 11 test
Elliptocytosis 21 test
Ellis-van Creveld syndrome8 tests
Emery-Dreifuss muscular dystrophy 2, autosomal dominant2 tests
Emery-Dreifuss muscular dystrophy 3, autosomal recessive2 tests
Emery-Dreifuss muscular dystrophy 4, autosomal dominant1 test
Emery-Dreifuss muscular dystrophy 5, autosomal dominant1 test
Emery-Dreifuss muscular dystrophy 7, autosomal dominant1 test
Encephalocraniocutaneous lipomatosis2 tests
Encephalopathy due to defective mitochondrial and peroxisomal fission 22 tests
Encephalopathy due to GLUT1 deficiency4 tests
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 72 tests
Encephalopathy, acute, infection-induced, susceptibility to, 42 tests
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 12 tests
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 12 tests
Encephalopathy, progressive, with amyotrophy and optic atrophy2 tests
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome2 tests
Endocrine-cerebro-osteodysplasia syndrome2 tests
Endometrial carcinoma6 tests
Enhanced S-cone syndrome1 test
Enterokinase deficiency2 tests
Eosinophil peroxidase deficiency1 test
Epidermal nevus3 tests
Epidermodysplasia verruciformis, susceptibility to, 14 tests
Epidermolysis bullosa pruriginosa4 tests
Epidermolysis bullosa simplex 1A, generalized severe8 tests
Epidermolysis bullosa simplex 1C, localized12 tests
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive10 tests
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency2 tests
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive3 tests
Epidermolysis bullosa simplex 5B, with muscular dystrophy2 tests
Epidermolysis bullosa simplex 5C, with pyloric atresia2 tests
Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss2 tests
Epidermolysis bullosa simplex 7, with nephropathy and deafness2 tests
Epidermolysis bullosa simplex due to plakophilin deficiency1 test
Epidermolysis bullosa simplex with migratory circinate erythema4 tests
Epidermolysis bullosa simplex with mottled pigmentation2 tests
Epidermolysis bullosa simplex with nail dystrophy2 tests
Epidermolysis bullosa simplex, Koebner type8 tests
Epidermolysis bullosa simplex, Ogna type2 tests
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome2 tests
Epidermolytic ichthyosis4 tests
Epilepsy with myoclonic atonic seizures1 test
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 21 test
Epilepsy, childhood absence, susceptibility to, 52 tests
Epilepsy, childhood absence, susceptibility to, 61 test
Epilepsy, early-onset, vitamin B6-dependent1 test
Epilepsy, familial adult myoclonic, 21 test
Epilepsy, familial adult myoclonic, 51 test
Epilepsy, familial focal, with variable foci 11 test
Epilepsy, familial focal, with variable foci 21 test
Epilepsy, familial focal, with variable foci 31 test
Epilepsy, familial temporal lobe, 12 tests
Epilepsy, idiopathic generalized, susceptibility to, 103 tests
Epilepsy, idiopathic generalized, susceptibility to, 113 tests
Epilepsy, idiopathic generalized, susceptibility to, 122 tests
Epilepsy, idiopathic generalized, susceptibility to, 132 tests
Epilepsy, idiopathic generalized, susceptibility to, 141 test
Epilepsy, idiopathic generalized, susceptibility to, 82 tests
Epilepsy, idiopathic generalized, susceptibility to, 91 test
Epilepsy, progressive myoclonic, 1B2 tests
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders2 tests
Episodic ataxia type 12 tests
Episodic ataxia type 22 tests
Episodic ataxia type 51 test
Episodic ataxia type 61 test
Episodic kinesigenic dyskinesia 11 test
Episodic pain syndrome, familial, 21 test
Epithelial basement membrane dystrophy1 test
Epithelial recurrent erosion dystrophy1 test
Epsilon-trimethyllysine hydroxylase deficiency2 tests
Erythrocyte AMP deaminase deficiency1 test
Erythrocytosis, familial, 31 test
Erythrocytosis, familial, 41 test
Erythrokeratodermia variabilis et progressiva 16 tests
Essential fructosuria1 test
Essential hypertension10 tests
Essential pentosuria1 test
Estrogen resistance syndrome1 test
Ethylmalonic encephalopathy3 tests
Euthyroid goiter1 test
Ewing sarcoma2 tests
Exercise intolerance, riboflavin-responsive1 test
Exercise-induced hyperinsulinism2 tests
Exostoses, multiple, type 22 tests
Extraskeletal myxoid chondrosarcoma2 tests
Exudative vitreoretinopathy 12 tests
Exudative vitreoretinopathy 2, X-linked1 test
Exudative vitreoretinopathy 42 tests
Exudative vitreoretinopathy 51 test
Exudative vitreoretinopathy 61 test
Fabry disease5 tests
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome2 tests
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome1 test
Facial paresis, hereditary congenital, 31 test
Facioscapulohumeral muscular dystrophy 21 test
Factor 5 and Factor VIII, combined deficiency of, 21 test
Factor H deficiency4 tests
Factor V and factor VIII, combined deficiency of, type 12 tests
Factor V deficiency2 tests
Factor VII deficiency1 test
Factor VIII deficiency1 test
Factor X deficiency2 tests
Factor XII deficiency disease2 tests
Factor XIII, A subunit, deficiency of1 test
Factor XIII, b subunit, deficiency of1 test
FADD-related immunodeficiency2 tests
Familial acute necrotizing encephalopathy2 tests
Familial adenomatous polyposis 17 tests
Familial adenomatous polyposis 22 tests
Familial adenomatous polyposis 31 test
Familial adenomatous polyposis 41 test
Familial amyloid nephropathy with urticaria AND deafness2 tests
Familial apolipoprotein C-II deficiency1 test
Familial atrial myxoma1 test
Familial benign flecked retina1 test
Familial benign pemphigus1 test
Familial cancer of breast37 tests
Familial cavitary optic disk anomaly1 test
Familial chronic mucocutaneous candidiasis2 tests
Familial clubfoot due to 17q23.1q23.2 microduplication2 tests
Familial cold autoinflammatory syndrome 11 test
Familial cold autoinflammatory syndrome 21 test
Familial cold autoinflammatory syndrome 31 test
Familial cold autoinflammatory syndrome 41 test
Familial congenital nasolacrimal duct obstruction1 test
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome2 tests
Familial cylindromatosis2 tests
Familial digital arthropathy-brachydactyly1 test
Familial dysautonomia1 test
Familial dysfibrinogenemia10 tests
Familial encephalopathy with neuroserpin inclusion bodies2 tests
Familial episodic pain syndrome with predominantly lower limb involvement1 test
Familial episodic pain syndrome with predominantly upper body involvement1 test
Familial expansile osteolysis1 test
Familial gestational hyperthyroidism2 tests
Familial hemophagocytic lymphohistiocytosis 24 tests
Familial hemophagocytic lymphohistiocytosis 34 tests
Familial hemophagocytic lymphohistiocytosis 44 tests
Familial hemophagocytic lymphohistiocytosis 52 tests
Familial hyperaldosteronism type III1 test
Familial hyperprolactinemia1 test
Familial hyperthyroidism due to mutations in TSH receptor2 tests
Familial hypobetalipoproteinemia 11 test
Familial hypobetalipoproteinemia 21 test
Familial hypocalciuric hypercalcemia 14 tests
Familial hypocalciuric hypercalcemia 21 test
Familial hypocalciuric hypercalcemia 31 test
Familial hypokalemia-hypomagnesemia4 tests
Familial hypoparathyroidism3 tests
Familial infantile myasthenia2 tests
Familial infantile myoclonic epilepsy1 test
Familial isolated congenital asplenia2 tests
Familial isolated deficiency of vitamin E1 test
Familial juvenile hyperuricemic nephropathy type 15 tests
Familial juvenile hyperuricemic nephropathy type 21 test
Familial Mediterranean fever2 tests
Familial Mediterranean fever, autosomal dominant2 tests
Familial medullary thyroid carcinoma3 tests
Familial meningioma7 tests
Familial multiple trichoepitheliomata1 test
Familial partial lipodystrophy, Dunnigan type2 tests
Familial porphyria cutanea tarda12 tests
Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome1 test
Familial pseudohyperkalemia1 test
Familial pulmonary capillary hemangiomatosis1 test
Familial renal glucosuria1 test
Familial retinal arterial macroaneurysm1 test
Familial scaphocephaly syndrome, McGillivray type2 tests
Familial spontaneous pneumothorax2 tests
Familial steroid-resistant nephrotic syndrome with sensorineural deafness2 tests
Familial temporal lobe epilepsy 51 test
Familial temporal lobe epilepsy 71 test
Familial temporal lobe epilepsy 81 test
Familial type 3 hyperlipoproteinemia2 tests
Familial type 5 hyperlipoproteinemia1 test
Familial ventricular tachycardia2 tests
Familial visceral amyloidosis, Ostertag type4 tests
Familial X-linked hypophosphatemic vitamin D refractory rickets2 tests
Fanconi anemia complementation group A4 tests
Fanconi anemia complementation group B4 tests
Fanconi anemia complementation group C2 tests
Fanconi anemia complementation group D12 tests
Fanconi anemia complementation group D24 tests
Fanconi anemia complementation group E2 tests
Fanconi anemia complementation group F2 tests
Fanconi anemia complementation group G2 tests
Fanconi anemia complementation group I2 tests
Fanconi anemia complementation group J4 tests
Fanconi anemia complementation group L2 tests
Fanconi anemia complementation group N4 tests
Fanconi anemia complementation group O2 tests
Fanconi anemia complementation group P2 tests
Fanconi anemia complementation group Q2 tests
Fanconi anemia complementation group R2 tests
Fanconi anemia complementation group T2 tests
Fanconi anemia complementation group U2 tests
Fanconi anemia complementation group V2 tests
Fanconi renotubular syndrome 22 tests
Fanconi renotubular syndrome 32 tests
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young4 tests
Fanconi-Bickel syndrome2 tests
Farber lipogranulomatosis2 tests
FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 51 test
Fatal familial insomnia1 test
Fatal infantile hypertonic myofibrillar myopathy2 tests
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 32 tests
Fatty acyl-CoA reductase 1 deficiency2 tests
Febrile seizures, familial, 111 test
Febrile seizures, familial, 41 test
Feingold syndrome type 22 tests
Female infertility due to zona pellucida defect1 test
Fetal akinesia deformation sequence 16 tests
Fetal akinesia-cerebral and retinal hemorrhage syndrome2 tests
Fetal hemoglobin quantitative trait locus 120 tests
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 62 tests
FG syndrome 12 tests
FG syndrome 24 tests
FG syndrome 48 tests
Fibrochondrogenesis 14 tests
Fibrochondrogenesis 22 tests
Fibromatosis, gingival, 11 test
Fibrosis of extraocular muscles, congenital, 21 test
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement1 test
Fibrosis of extraocular muscles, congenital, 51 test
Fibrous dysplasia of jaw1 test
Filippi syndrome2 tests
Finnish congenital nephrotic syndrome2 tests
Finnish type amyloidosis1 test
Fish-eye disease2 tests
Fleck corneal dystrophy1 test
Floating-Harbor syndrome2 tests
Focal dermal hypoplasia2 tests
Focal facial dermal dysplasia type III2 tests
Focal facial dermal dysplasia type IV2 tests
Focal segmental glomerulosclerosis 11 test
Focal segmental glomerulosclerosis 21 test
Focal segmental glomerulosclerosis 3, susceptibility to1 test
Focal segmental glomerulosclerosis 4, susceptibility to2 tests
Focal segmental glomerulosclerosis 51 test
Focal segmental glomerulosclerosis 61 test
Focal segmental glomerulosclerosis 71 test
Focal segmental glomerulosclerosis 81 test
Focal segmental glomerulosclerosis 91 test
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome1 test
Foveal hypoplasia 12 tests
Fowler syndrome2 tests
Fragile X syndrome4 tests
Fragile X-associated tremor/ataxia syndrome2 tests
Frank-Ter Haar syndrome2 tests
Fraser syndrome 16 tests
Frasier syndrome4 tests
FRAXE2 tests
Freeman-Sheldon syndrome2 tests
Frias syndrome2 tests
Friedreich ataxia 14 tests
Frontometaphyseal dysplasia 13 tests
Frontometaphyseal dysplasia 22 tests
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome2 tests
Frontonasal dysplasia with alopecia and genital anomaly4 tests
Frontorhiny2 tests
Frontotemporal dementia4 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 11 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 21 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 32 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 41 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 61 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 71 test
Fructose-biphosphatase deficiency4 tests
Fucosidosis2 tests
Fucosyltransferase 6 deficiency2 tests
Fuhrmann syndrome2 tests
Fumarase deficiency4 tests
Galactosylceramide beta-galactosidase deficiency4 tests
Gallbladder disease 41 test
Galloway-Mowat syndrome 12 tests
Gamma-aminobutyric acid transaminase deficiency2 tests
Gamma-glutamylcysteine synthetase deficiency2 tests
GAPO syndrome2 tests
Gastric lymphoma1 test
Gastrointestinal stromal tumor6 tests
Gaucher disease due to saposin C deficiency2 tests
Gaucher disease perinatal lethal4 tests
Gaucher disease type I4 tests
Gaucher disease type II4 tests
Gaucher disease type III4 tests
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome4 tests
Gaze palsy, familial horizontal, with progressive scoliosis 11 test
Gelatinous droplike corneal dystrophy1 test
Geleophysic dysplasia 12 tests
Geleophysic dysplasia 24 tests
Generalized dominant dystrophic epidermolysis bullosa8 tests
Generalized epilepsy with febrile seizures plus, type 11 test
Generalized epilepsy with febrile seizures plus, type 24 tests
Generalized epilepsy with febrile seizures plus, type 72 tests
Generalized epilepsy with febrile seizures plus, type 91 test
Generalized epilepsy-paroxysmal dyskinesia syndrome2 tests
Generalized juvenile polyposis/juvenile polyposis coli6 tests
Generalized pustular psoriasis1 test
Genitopatellar syndrome2 tests
Geroderma osteodysplastica2 tests
Gerstmann-Straussler-Scheinker syndrome3 tests
Ghosal hematodiaphyseal dysplasia2 tests
Giant axonal neuropathy 11 test
Giant axonal neuropathy 21 test
Gilbert syndrome1 test
Gillespie syndrome2 tests
Gillessen-Kaesbach-Nishimura syndrome1 test
Glanzmann thrombasthenia5 tests
Glaucoma 1, open angle, A1 test
Glaucoma 1, open angle, F1 test
Glaucoma 1, open angle, G1 test
Glaucoma 1, open angle, O1 test
Glaucoma 3, primary congenital, D1 test
Glaucoma 3, primary congenital, E1 test
Glaucoma 3A2 tests
Glaucoma, normal tension, susceptibility to3 tests
Glioma susceptibility 14 tests
Glioma susceptibility 22 tests
Glioma susceptibility 32 tests
Globozoospermia1 test
Glomerulopathy with fibronectin deposits 21 test
Glomuvenous malformation1 test
Glucocorticoid deficiency 11 test
Glucocorticoid deficiency 21 test
Glucocorticoid deficiency 41 test
Glucocorticoid deficiency with achalasia2 tests
Glucocorticoid resistance1 test
Glucocorticoid therapy, response to1 test
Glucocorticoid-remediable aldosteronism1 test
Glucose-6-phosphate transport defect2 tests
Glutamate formiminotransferase deficiency2 tests
Glutamate pyruvate transaminase 2 deficiency2 tests
Glutaric aciduria, type 12 tests
Glutaryl-CoA oxidase deficiency2 tests
Glutathione synthetase deficiency without 5-oxoprolinuria1 test
Gluthathione peroxidase deficiency2 tests
GLYCEROL QUANTITATIVE TRAIT LOCUS1 test
Glycine encephalopathy8 tests
Glycine N-methyltransferase deficiency2 tests
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA2 tests
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency1 test
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency2 tests
Glycogen storage disease due to muscle and heart glycogen synthase deficiency2 tests
Glycogen storage disease due to muscle beta-enolase deficiency2 tests
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency2 tests
Glycogen storage disease IXa14 tests
Glycogen storage disease IXb2 tests
Glycogen storage disease IXc4 tests
Glycogen storage disease IXd2 tests
Glycogen storage disease type III4 tests
Glycogen storage disease type X2 tests
Glycogen storage disease XV2 tests
Glycogen storage disease, type II4 tests
Glycogen storage disease, type IV2 tests
Glycogen storage disease, type V3 tests
Glycogen storage disease, type VI2 tests
Glycogen storage disease, type VII2 tests
Glycogen storage disorder due to hepatic glycogen synthase deficiency2 tests
GM1 gangliosidosis type 22 tests
GM1 gangliosidosis type 32 tests
GM3 synthase deficiency1 test
Gnathodiaphyseal dysplasia4 tests
GNPTG-mucolipidosis2 tests
Goldberg-Shprintzen syndrome2 tests
Gonadotropin-independent familial sexual precocity2 tests
Gordon syndrome2 tests
Gorlin syndrome8 tests
GRACILE syndrome2 tests
Graft-versus-host disease, susceptibility to1 test
Grange syndrome2 tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative3 tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 12 tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 22 tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 32 tests
Granulomatous disease, chronic, X-linked3 tests
Gray platelet syndrome2 tests
Grebe syndrome2 tests
Greenberg dysplasia2 tests
Greig cephalopolysyndactyly syndrome4 tests
Griscelli syndrome type 12 tests
Griscelli syndrome type 22 tests
Griscelli syndrome type 32 tests
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions3 tests
Groenouw corneal dystrophy type I1 test
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome2 tests
Growth delay due to insulin-like growth factor I resistance1 test
Growth delay due to insulin-like growth factor type 1 deficiency2 tests
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive1 test
GTP cyclohydrolase I deficiency4 tests
Guillain-Barre syndrome, familial4 tests
Guttmacher syndrome3 tests
H syndrome2 tests
Haim-Munk syndrome2 tests
Hajdu-Cheney syndrome2 tests
Hamartoma of hypothalamus2 tests
Hand-foot-genital syndrome1 test
Hartsfield-Bixler-Demyer syndrome4 tests
Hashimoto thyroiditis1 test
Hawkinsinuria2 tests
Hb SS disease4 tests
Hearing loss, X-linked 11 test
Hearing loss, X-linked 61 test
Heart defect - tongue hamartoma - polysyndactyly syndrome2 tests
Heart-hand syndrome, Slovenian type4 tests
Hecht syndrome2 tests
Heimler syndrome 11 test
Heimler syndrome 21 test
Heinz body anemia14 tests
Helicobacter pylori infection, susceptibility to2 tests
Helicoid peripapillary chorioretinal degeneration1 test
Heme oxygenase 1 deficiency2 tests
Hemochromatosis type 13 tests
Hemochromatosis type 2A2 tests
Hemochromatosis type 2B2 tests
Hemochromatosis type 32 tests
Hemochromatosis type 42 tests
Hemochromatosis type 51 test
Hemoglobin H disease4 tests
Hemolytic anemia due to adenylate kinase deficiency2 tests
Hemolytic anemia due to glucophosphate isomerase deficiency2 tests
Hemolytic anemia due to hexokinase deficiency3 tests
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency2 tests
Hemolytic uremic syndrome, atypical, susceptibility to, 110 tests
Hemorrhage, intracerebral, susceptibility to4 tests
Hennekam lymphangiectasia-lymphedema syndrome 12 tests
Hennekam lymphangiectasia-lymphedema syndrome 23 tests
Heparin cofactor II deficiency1 test
Hepatic adenomas, familial1 test
Hepatic methionine adenosyltransferase deficiency4 tests
Hepatic veno-occlusive disease-immunodeficiency syndrome1 test
Hepatitis B virus, susceptibility to3 tests
Hepatitis C virus, susceptibility to7 tests
Hepatocellular carcinoma8 tests
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 12 tests
Hereditary acrodermatitis enteropathica2 tests
Hereditary angioedema type 12 tests
Hereditary angioedema type 32 tests
Hereditary antithrombin deficiency2 tests
Hereditary arterial and articular multiple calcification syndrome1 test
Hereditary cerebral amyloid angiopathy, Icelandic type1 test
Hereditary coproporphyria8 tests
Hereditary cryohydrocytosis with reduced stomatin2 tests
Hereditary diffuse gastric adenocarcinoma5 tests
Hereditary diffuse leukoencephalopathy with spheroids2 tests
Hereditary factor IX deficiency disease4 tests
Hereditary factor VIII deficiency disease4 tests
Hereditary factor XI deficiency disease2 tests
Hereditary fructosuria4 tests
Hereditary hypercarotenemia and vitamin A deficiency2 tests
Hereditary hyperferritinemia with congenital cataracts2 tests
Hereditary hypotrichosis with recurrent skin vesicles1 test
Hereditary insensitivity to pain with anhidrosis2 tests
Hereditary intrinsic factor deficiency1 test
Hereditary leiomyomatosis and renal cell cancer2 tests
Hereditary liability to pressure palsies2 tests
Hereditary lymphedema type I2 tests
Hereditary motor and sensory neuropathy with optic atrophy2 tests
Hereditary motor and sensory neuropathy, Okinawa type1 test
Hereditary myopathy with lactic acidosis due to ISCU deficiency2 tests
Hereditary pancreatitis8 tests
Hereditary sclerosing poikiloderma with tendon and pulmonary involvement1 test
Hereditary sensory and autonomic neuropathy type 12 tests
Hereditary sensory and autonomic neuropathy type 61 test
Hereditary sensory and autonomic neuropathy type 71 test
Hereditary sensory and autonomic neuropathy with spastic paraplegia1 test
Hereditary sensory neuropathy-deafness-dementia syndrome1 test
Hereditary spastic paraplegia 101 test
Hereditary spastic paraplegia 112 tests
Hereditary spastic paraplegia 121 test
Hereditary spastic paraplegia 131 test
Hereditary spastic paraplegia 152 tests
Hereditary spastic paraplegia 171 test
Hereditary spastic paraplegia 181 test
Hereditary spastic paraplegia 21 test
Hereditary spastic paraplegia 261 test
Hereditary spastic paraplegia 281 test
Hereditary spastic paraplegia 301 test
Hereditary spastic paraplegia 312 tests
Hereditary spastic paraplegia 332 tests
Hereditary spastic paraplegia 351 test
Hereditary spastic paraplegia 391 test
Hereditary spastic paraplegia 3A1 test
Hereditary spastic paraplegia 42 tests
Hereditary spastic paraplegia 421 test
Hereditary spastic paraplegia 431 test
Hereditary spastic paraplegia 441 test
Hereditary spastic paraplegia 451 test
Hereditary spastic paraplegia 461 test
Hereditary spastic paraplegia 471 test
Hereditary spastic paraplegia 481 test
Hereditary spastic paraplegia 491 test
Hereditary spastic paraplegia 501 test
Hereditary spastic paraplegia 511 test
Hereditary spastic paraplegia 521 test
Hereditary spastic paraplegia 531 test
Hereditary spastic paraplegia 541 test
Hereditary spastic paraplegia 551 test
Hereditary spastic paraplegia 561 test
Hereditary spastic paraplegia 571 test
Hereditary spastic paraplegia 5A1 test
Hereditary spastic paraplegia 62 tests
Hereditary spastic paraplegia 611 test
Hereditary spastic paraplegia 621 test
Hereditary spastic paraplegia 631 test
Hereditary spastic paraplegia 641 test
Hereditary spastic paraplegia 72 tests
Hereditary spastic paraplegia 721 test
Hereditary spastic paraplegia 731 test
Hereditary spastic paraplegia 741 test
Hereditary spastic paraplegia 751 test
Hereditary spastic paraplegia 771 test
Hereditary spastic paraplegia 81 test
Hereditary spastic paraplegia 9A1 test
Hereditary spherocytosis type 11 test
Hereditary spherocytosis type 24 tests
Hereditary spherocytosis type 31 test
Hereditary spherocytosis type 41 test
Hereditary spherocytosis type 51 test
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX12 tests
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency2 tests
Hereditary xanthinuria type 12 tests
Hermansky-Pudlak syndrome 12 tests
Hermansky-Pudlak syndrome 102 tests
Hermansky-Pudlak syndrome 22 tests
Hermansky-Pudlak syndrome 32 tests
Hermansky-Pudlak syndrome 42 tests
Hermansky-Pudlak syndrome 52 tests
Hermansky-Pudlak syndrome 62 tests
Hermansky-Pudlak syndrome 72 tests
Hermansky-Pudlak syndrome 82 tests
Hermansky-Pudlak syndrome 92 tests
Herpes simplex encephalitis, susceptibility to, 12 tests
Herpes simplex encephalitis, susceptibility to, 32 tests
Herpes simplex encephalitis, susceptibility to, 42 tests
Heterotaxy, visceral, 1, X-linked8 tests
Heterotaxy, visceral, 2, autosomal2 tests
Heterotaxy, visceral, 4, autosomal4 tests
Heterotaxy, visceral, 5, autosomal4 tests
Heterotaxy, visceral, 6, autosomal2 tests
Heterotaxy, visceral, 7, autosomal2 tests
Heterotaxy, visceral, 8, autosomal2 tests
Heterotopia, periventricular, X-linked dominant6 tests
Hidrotic ectodermal dysplasia syndrome3 tests
High density lipoprotein cholesterol level quantitative trait locus 121 test
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 61 test
High molecular weight kininogen deficiency2 tests
High myopia-sensorineural deafness syndrome1 test
Hip dysplasia, Beukes type1 test
Hirschsprung disease, cardiac defects, and autonomic dysfunction2 tests
Hirschsprung disease, susceptibility to, 14 tests
Hirschsprung disease, susceptibility to, 24 tests
Hirschsprung disease, susceptibility to, 34 tests
Hirschsprung disease, susceptibility to, 44 tests
Histidinemia1 test
Histiocytic medullary reticulosis10 tests
HNSHA due to aldolase A deficiency2 tests
Hogue-Janssens syndrome 12 tests
Holocarboxylase synthetase deficiency2 tests
Holoprosencephaly 112 tests
Holoprosencephaly 24 tests
Holoprosencephaly 34 tests
Holoprosencephaly 42 tests
Holoprosencephaly 54 tests
Holoprosencephaly 74 tests
Holoprosencephaly 91 test
Holt-Oram syndrome2 tests
Homocystinuria due to methylene tetrahydrofolate reductase deficiency6 tests
Homozygous 11P15-p14 deletion syndrome2 tests
Houge-Janssens syndrome 22 tests
HSD10 mitochondrial disease4 tests
Human HOXA1 syndromes4 tests
Huntington disease1 test
Huntington disease-like 11 test
Huntington disease-like 21 test
Huppke-Brendel syndrome2 tests
Hurler syndrome4 tests
Hurthle cell carcinoma of thyroid1 test
Hutchinson-Gilford syndrome4 tests
Hyaline fibromatosis syndrome1 test
Hydatidiform mole, recurrent, 11 test
Hydatidiform mole, recurrent, 21 test
Hydrocephalus, nonsyndromic, autosomal recessive 12 tests
Hydrocephalus, nonsyndromic, autosomal recessive 22 tests
Hydrolethalus syndrome 12 tests
Hydrolethalus syndrome 22 tests
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome2 tests
Hydroxyacyl glutathione hydrolase deficiency1 test
Hydroxykynureninuria2 tests
Hyper-IgE recurrent infection syndrome 1, autosomal dominant2 tests
Hyper-IgM syndrome type 12 tests
Hyper-IgM syndrome type 22 tests
Hyper-IgM syndrome type 32 tests
Hyper-IgM syndrome type 52 tests
Hyperaldosteronism, familial, type IV1 test
Hyperalphalipoproteinemia 13 tests
Hyperammonemia, type III2 tests
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency2 tests
Hyperbiliverdinemia2 tests
Hypercalcemia, infantile, 12 tests
Hypercalcemia, infantile, 22 tests
Hypercholanemia, familial 13 tests
Hypercholesterolemia, autosomal dominant, 32 tests
Hypercholesterolemia, autosomal dominant, type B1 test
Hypercholesterolemia, familial, 112 tests
Hypercholesterolemia, familial, 41 test
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency2 tests
Hyperglycinuria6 tests
Hyperimmunoglobulin D with periodic fever2 tests
Hyperinsulinemic hypoglycemia, familial, 14 tests
Hyperinsulinemic hypoglycemia, familial, 22 tests
Hyperinsulinemic hypoglycemia, familial, 42 tests
Hyperinsulinism due to glucokinase deficiency4 tests
Hyperinsulinism due to INSR deficiency2 tests
Hyperinsulinism-hyperammonemia syndrome2 tests
Hyperlipidemia due to hepatic triglyceride lipase deficiency1 test
Hyperlipidemia, combined, 11 test
Hyperlipidemia, familial combined, LPL related2 tests
Hyperlipoproteinemia, type 1D1 test
Hyperlipoproteinemia, type I3 tests
Hyperlysinemia2 tests
Hypermanganesemia with dystonia 21 test
Hypermanganesemia with dystonia, polycythemia, and cirrhosis1 test
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase2 tests
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome2 tests
Hyperparathyroidism 12 tests
Hyperparathyroidism 2 with jaw tumors4 tests
Hyperparathyroidism 41 test
Hyperphenylalaninemia due to DNAJC12 deficiency2 tests
Hyperphosphatasemia tarda2 tests
Hyperphosphatasemia with bone disease1 test
Hyperphosphatasia with intellectual disability syndrome 12 tests
Hyperphosphatasia with intellectual disability syndrome 22 tests
Hyperphosphatasia with intellectual disability syndrome 32 tests
Hyperphosphatasia with intellectual disability syndrome 42 tests
Hyperphosphatasia with intellectual disability syndrome 52 tests
Hyperphosphatasia with intellectual disability syndrome 62 tests
Hyperpigmentation with or without hypopigmentation, familial progressive1 test
Hyperproinsulinemia1 test
Hyperprolinemia type 22 tests
HYPERTENSION, DIASTOLIC, RESISTANCE TO1 test
Hyperthyroxinemia, dystransthyretinemic1 test
Hyperthyroxinemia, familial dysalbuminemic1 test
Hypertrichotic osteochondrodysplasia Cantu type2 tests
Hypertriglyceridemia 12 tests
Hypertrophic cardiomyopathy 15 tests
Hypertrophic cardiomyopathy 101 test
Hypertrophic cardiomyopathy 111 test
Hypertrophic cardiomyopathy 121 test
Hypertrophic cardiomyopathy 131 test
Hypertrophic cardiomyopathy 141 test
Hypertrophic cardiomyopathy 151 test
Hypertrophic cardiomyopathy 161 test
Hypertrophic cardiomyopathy 171 test
Hypertrophic cardiomyopathy 181 test
Hypertrophic cardiomyopathy 22 tests
Hypertrophic cardiomyopathy 201 test
Hypertrophic cardiomyopathy 251 test
Hypertrophic cardiomyopathy 262 tests
Hypertrophic cardiomyopathy 31 test
Hypertrophic cardiomyopathy 42 tests
Hypertrophic cardiomyopathy 61 test
Hypertrophic cardiomyopathy 71 test
Hypertrophic cardiomyopathy 81 test
Hypertrophic cardiomyopathy 91 test
Hypertrophic osteoarthropathy, primary, autosomal recessive, 13 tests
Hypertrophic osteoarthropathy, primary, autosomal recessive, 21 test
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome2 tests
Hyperuricemic nephropathy, familial juvenile type 41 test
Hypoalphalipoproteinemia, primary, 14 tests
Hypogonadotropic hypogonadism 1 with or without anosmia1 test
Hypogonadotropic hypogonadism 10 with or without anosmia1 test
Hypogonadotropic hypogonadism 11 with or without anosmia1 test
Hypogonadotropic hypogonadism 12 with or without anosmia2 tests
Hypogonadotropic hypogonadism 13 with or without anosmia1 test
Hypogonadotropic hypogonadism 14 with or without anosmia1 test
Hypogonadotropic hypogonadism 15 with or without anosmia1 test
Hypogonadotropic hypogonadism 16 with or without anosmia1 test
Hypogonadotropic hypogonadism 17 with or without anosmia1 test
Hypogonadotropic hypogonadism 18 with or without anosmia1 test
Hypogonadotropic hypogonadism 19 with or without anosmia1 test
Hypogonadotropic hypogonadism 2 with or without anosmia2 tests
Hypogonadotropic hypogonadism 20 with or without anosmia1 test
Hypogonadotropic hypogonadism 21 with or without anosmia1 test
Hypogonadotropic hypogonadism 22 with or without anosmia1 test
Hypogonadotropic hypogonadism 24 without anosmia1 test
Hypogonadotropic hypogonadism 3 with or without anosmia1 test
Hypogonadotropic hypogonadism 4 with or without anosmia1 test
Hypogonadotropic hypogonadism 5 with or without anosmia2 tests
Hypogonadotropic hypogonadism 6 with or without anosmia1 test
Hypogonadotropic hypogonadism 7 with or without anosmia2 tests
Hypogonadotropic hypogonadism 8 with or without anosmia1 test
Hypogonadotropic hypogonadism 9 with or without anosmia1 test
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome2 tests
Hypohidrotic X-linked ectodermal dysplasia4 tests
Hypoinsulinemic hypoglycemia and body hemihypertrophy1 test
Hypokalemic periodic paralysis, type 12 tests
Hypokalemic periodic paralysis, type 22 tests
Hypomagnesemia, seizures, and intellectual disability 12 tests
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism1 test
Hypomyelinating leukodystrophy 102 tests
Hypomyelinating leukodystrophy 112 tests
Hypomyelinating leukodystrophy 122 tests
Hypomyelinating leukodystrophy 132 tests
Hypomyelinating leukodystrophy 22 tests
Hypomyelinating leukodystrophy 32 tests
Hypomyelinating leukodystrophy 42 tests
Hypomyelinating leukodystrophy 62 tests
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism2 tests
Hypomyelinating leukodystrophy 92 tests
Hypomyelination with brain stem and spinal cord involvement and leg spasticity2 tests
Hypoparathyroidism, deafness, renal disease syndrome4 tests
Hypoparathyroidism-retardation-dysmorphism syndrome2 tests
Hypophosphatemic nephrolithiasis/osteoporosis 11 test
Hypophosphatemic nephrolithiasis/osteoporosis 21 test
Hypophosphatemic rickets, autosomal recessive, 11 test
Hypophosphatemic rickets, autosomal recessive, 21 test
Hypophosphatemic rickets, X-linked recessive1 test
Hypopigmentation-punctate palmoplantar keratoderma syndrome1 test
Hypoplastic enamel-onycholysis-hypohidrosis syndrome2 tests
Hypoplastic left heart syndrome 12 tests
Hypoplastic left heart syndrome 24 tests
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome2 tests
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration4 tests
Hypoproteinemia, hypercatabolic2 tests
Hypospadias 1, X-linked4 tests
Hypospadias 2, X-linked2 tests
Hypothalamic hypothyroidism1 test
Hypothyroidism due to TSH receptor mutations2 tests
Hypothyroidism, congenital, nongoitrous, 22 tests
Hypothyroidism, congenital, nongoitrous, 52 tests
Hypotonia with lactic acidemia and hyperammonemia2 tests
Hypotonia, ataxia, and delayed development syndrome2 tests
Hypotonia, infantile, with psychomotor retardation and characteristic facies 12 tests
Hypotonia, infantile, with psychomotor retardation and characteristic facies 22 tests
Hypotonia, infantile, with psychomotor retardation and characteristic facies 32 tests
Hypotonia-cystinuria syndrome2 tests
Hypotonia-failure to thrive-microcephaly syndrome2 tests
Hypotrichosis 11 test
Hypotrichosis 111 test
Hypotrichosis 121 test
Hypotrichosis 131 test
Hypotrichosis 21 test
Hypotrichosis 31 test
Hypotrichosis 41 test
Hypotrichosis 61 test
Hypotrichosis 72 tests
Hypotrichosis 82 tests
Hypotrichosis-lymphedema-telangiectasia syndrome1 test
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome2 tests
Hypouricemia, renal, 22 tests
Ichthyosis bullosa of Siemens1 test
Ichthyosis hystrix of Curth-Macklin1 test
Ichthyosis prematurity syndrome1 test
Ichthyosis vulgaris2 tests
Ichthyosis, congenital, autosomal recessive 122 tests
Ichthyosis, hystrix-like, with hearing loss1 test
Idiopathic basal ganglia calcification 12 tests
Idiopathic CD4 lymphocytopenia3 tests
Idiopathic hypereosinophilic syndrome1 test
IFAP syndrome 1, with or without BRESHECK syndrome1 test
IgA nephropathy, susceptibility to, 31 test
IgE responsiveness, atopic8 tests
IL21-related infantile inflammatory bowel disease2 tests
IMAGe syndrome4 tests
Imerslund-Grasbeck syndrome4 tests
Iminoglycinuria6 tests
Immunodeficiency 1044 tests
Immunodeficiency 142 tests
Immunodeficiency 182 tests
Immunodeficiency 192 tests
Immunodeficiency 232 tests
Immunodeficiency 252 tests
Immunodeficiency 27A2 tests
Immunodeficiency 282 tests
Immunodeficiency 31B2 tests
Immunodeficiency 3310 tests
Immunodeficiency 352 tests
Immunodeficiency 362 tests
Immunodeficiency 373 tests
Immunodeficiency 392 tests
Immunodeficiency 452 tests
Immunodeficiency 472 tests
Immunodeficiency 492 tests
Immunodeficiency 512 tests
Immunodeficiency 672 tests
Immunodeficiency 83, susceptibility to viral infections2 tests
Immunodeficiency due to CD25 deficiency2 tests
Immunodeficiency due to ficolin3 deficiency2 tests
Immunodeficiency due to MASP-2 deficiency2 tests
Immunodeficiency, common variable, 12 tests
Immunodeficiency, common variable, 102 tests
Immunodeficiency, common variable, 122 tests
Immunodeficiency, common variable, 22 tests
Immunodeficiency, common variable, 32 tests
Immunodeficiency, common variable, 42 tests
Immunodeficiency, common variable, 52 tests
Immunodeficiency, common variable, 62 tests
Immunodeficiency, common variable, 72 tests
Immunodeficiency-centromeric instability-facial anomalies syndrome 14 tests
Immunodeficiency-centromeric instability-facial anomalies syndrome 22 tests
Immunodeficiency-centromeric instability-facial anomalies syndrome 32 tests
Immunodeficiency-centromeric instability-facial anomalies syndrome 42 tests
Immunoglobulin A deficiency 22 tests
Immunoglobulin-mediated membranoproliferative glomerulonephritis4 tests
Inborn glycerol kinase deficiency3 tests
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 21 test
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 31 test
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 11 test
Incontinentia pigmenti syndrome2 tests
Increased analgesia from kappa-opioid receptor agonist, female-specific1 test
Infantile bilateral striatal necrosis2 tests
Infantile cerebellar-retinal degeneration2 tests
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly2 tests
Infantile convulsions and choreoathetosis1 test
Infantile cortical hyperostosis2 tests
Infantile GM1 gangliosidosis2 tests
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency2 tests
Infantile hypophosphatasia2 tests
Infantile liver failure syndrome 12 tests
Infantile liver failure syndrome 22 tests
Infantile nephronophthisis2 tests
Infantile neuroaxonal dystrophy4 tests
Infantile onset spinocerebellar ataxia4 tests
Infantile-onset ascending hereditary spastic paralysis1 test
Infantile-onset generalized dyskinesia with orofacial involvement1 test
Infantile-onset X-linked spinal muscular atrophy2 tests
Infertility associated with multi-tailed spermatozoa and excessive DNA1 test
Inflammatory bowel disease 12 tests
Inflammatory bowel disease 101 test
Inflammatory bowel disease 131 test
Inflammatory bowel disease 141 test
Inflammatory bowel disease 171 test
Inflammatory bowel disease 191 test
Inflammatory bowel disease 251 test
Inflammatory bowel disease 281 test
Inflammatory skin and bowel disease, neonatal, 11 test
Inflammatory skin and bowel disease, neonatal, 21 test
Influenza, severe, susceptibility to1 test
Inherited Creutzfeldt-Jakob disease4 tests
Inherited glutathione synthetase deficiency3 tests
Inherited susceptibility to asthma14 tests
Inosine triphosphatase deficiency1 test
Insulin-dependent diabetes mellitus secretory diarrhea syndrome2 tests
Insulin-resistant diabetes mellitus AND acanthosis nigricans1 test
Intellectual developmental disorder with autism and macrocephaly2 tests
Intellectual developmental disorder with dysmorphic facies and ptosis2 tests
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism2 tests
Intellectual developmental disorder, autosomal recessive 742 tests
Intellectual disability, anterior maxillary protrusion, and strabismus2 tests
Intellectual disability, autosomal dominant 12 tests
Intellectual disability, autosomal dominant 102 tests
Intellectual disability, autosomal dominant 112 tests
Intellectual disability, autosomal dominant 132 tests
Intellectual disability, autosomal dominant 144 tests
Intellectual disability, autosomal dominant 152 tests
Intellectual disability, autosomal dominant 162 tests
Intellectual disability, autosomal dominant 209 tests
Intellectual disability, autosomal dominant 222 tests
Intellectual disability, autosomal dominant 242 tests
Intellectual disability, autosomal dominant 292 tests
Intellectual disability, autosomal dominant 32 tests
Intellectual disability, autosomal dominant 302 tests
Intellectual disability, autosomal dominant 332 tests
Intellectual disability, autosomal dominant 342 tests
Intellectual disability, autosomal dominant 382 tests
Intellectual disability, autosomal dominant 392 tests
Intellectual disability, autosomal dominant 42 tests
Intellectual disability, autosomal dominant 402 tests
Intellectual disability, autosomal dominant 412 tests
Intellectual disability, autosomal dominant 422 tests
Intellectual disability, autosomal dominant 432 tests
Intellectual disability, autosomal dominant 52 tests
Intellectual disability, autosomal dominant 64 tests
Intellectual disability, autosomal dominant 82 tests
Intellectual disability, autosomal dominant 92 tests
Intellectual disability, autosomal recessive 12 tests
Intellectual disability, autosomal recessive 122 tests
Intellectual disability, autosomal recessive 132 tests
Intellectual disability, autosomal recessive 142 tests
Intellectual disability, autosomal recessive 182 tests
Intellectual disability, autosomal recessive 22 tests
Intellectual disability, autosomal recessive 272 tests
Intellectual disability, autosomal recessive 32 tests
Intellectual disability, autosomal recessive 342 tests
Intellectual disability, autosomal recessive 422 tests
Intellectual disability, autosomal recessive 432 tests
Intellectual disability, autosomal recessive 442 tests
Intellectual disability, autosomal recessive 452 tests
Intellectual disability, autosomal recessive 462 tests
Intellectual disability, autosomal recessive 472 tests
Intellectual disability, autosomal recessive 52 tests
Intellectual disability, autosomal recessive 502 tests
Intellectual disability, autosomal recessive 511 test
Intellectual disability, autosomal recessive 522 tests
Intellectual disability, autosomal recessive 532 tests
Intellectual disability, autosomal recessive 542 tests
Intellectual disability, autosomal recessive 562 tests
Intellectual disability, autosomal recessive 572 tests
Intellectual disability, autosomal recessive 582 tests
Intellectual disability, autosomal recessive 592 tests
Intellectual disability, autosomal recessive 62 tests
Intellectual disability, autosomal recessive 72 tests
Intellectual disability, FRA12A type2 tests
Intellectual disability, X-linked 12 tests
Intellectual disability, X-linked 1002 tests
Intellectual disability, X-linked 1012 tests
Intellectual disability, X-linked 1022 tests
Intellectual disability, X-linked 1032 tests
Intellectual disability, X-linked 1042 tests
Intellectual disability, X-linked 1052 tests
Intellectual disability, X-linked 196 tests
Intellectual disability, X-linked 212 tests
Intellectual disability, X-linked 302 tests
Intellectual disability, X-linked 412 tests
Intellectual disability, X-linked 462 tests
Intellectual disability, X-linked 493 tests
Intellectual disability, X-linked 582 tests
Intellectual disability, X-linked 612 tests
Intellectual disability, X-linked 632 tests
Intellectual disability, X-linked 722 tests
Intellectual disability, X-linked 92 tests
Intellectual disability, X-linked 902 tests
Intellectual disability, X-linked 912 tests
Intellectual disability, X-linked 932 tests
Intellectual disability, X-linked 962 tests
Intellectual disability, X-linked 972 tests
Intellectual disability, X-linked 992 tests
Intellectual disability, X-linked 99, syndromic, female-restricted2 tests
Intellectual disability, X-linked, syndromic 332 tests
Intellectual disability, X-linked, syndromic, Bain type2 tests
Intellectual disability, X-linked, with or without seizures, ARX-related4 tests
Intellectual disability, X-linked, with panhypopituitarism2 tests
Intellectual disability-epilepsy-extrapyramidal syndrome2 tests
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency2 tests
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome2 tests
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome2 tests
Intellectual disability-hypotonic facies syndrome, X-linked, 14 tests
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome2 tests
Intellectual disability-severe speech delay-mild dysmorphism syndrome2 tests
Intellectual disability-strabismus syndrome2 tests
Interleukin 6, serum level of, quantitative trait locus1 test
Interstitial lung disease 23 tests
Interstitial lung disease due to ABCA3 deficiency2 tests
Intervertebral disc disorder3 tests
Intestinal hypomagnesemia 11 test
Intestinal pseudo-obstruction2 tests
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked6 tests
Invasive pneumococcal disease, recurrent isolated3 tests
Iodotyrosine deiodination defect1 test
Iodotyrosyl coupling defect1 test
Irido-corneo-trabecular dysgenesis4 tests
Ischemic stroke6 tests
Isolated cleft palate2 tests
Isolated congenital digital clubbing1 test
Isolated focal non-epidermolytic palmoplantar keratoderma1 test
Isolated growth hormone deficiency type IB4 tests
Isolated hyperchlorhidrosis1 test
Isolated lutropin deficiency1 test
Isolated microphthalmia 21 test
Isolated microphthalmia 31 test
Isolated microphthalmia 41 test
Isolated microphthalmia 51 test
Isolated microphthalmia 61 test
Isolated microphthalmia 71 test
Isolated microphthalmia 81 test
Isolated optic nerve hypoplasia2 tests
Isolated thyroid-stimulating hormone deficiency1 test
Isovaleryl-CoA dehydrogenase deficiency2 tests
Jackson-Weiss syndrome6 tests
Jalili syndrome2 tests
Jawad syndrome3 tests
Jervell and Lange-Nielsen syndrome 11 test
Jervell and Lange-Nielsen syndrome 21 test
Johanson-Blizzard syndrome2 tests
Joubert syndrome 12 tests
Joubert syndrome 102 tests
Joubert syndrome 132 tests
Joubert syndrome 142 tests
Joubert syndrome 152 tests
Joubert syndrome 162 tests
Joubert syndrome 172 tests
Joubert syndrome 182 tests
Joubert syndrome 22 tests
Joubert syndrome 202 tests
Joubert syndrome 212 tests
Joubert syndrome 222 tests
Joubert syndrome 232 tests
Joubert syndrome 242 tests
Joubert syndrome 252 tests
Joubert syndrome 262 tests
Joubert syndrome 272 tests
Joubert syndrome 282 tests
Joubert syndrome 32 tests
Joubert syndrome 54 tests
Joubert syndrome 62 tests
Joubert syndrome 72 tests
Joubert syndrome 82 tests
Joubert syndrome 92 tests
Joubert syndrome with renal defect4 tests
Junctional epidermolysis bullosa gravis of Herlitz12 tests
Junctional epidermolysis bullosa with pyloric atresia3 tests
Junctional epidermolysis bullosa, non-Herlitz type18 tests
Juvenile cataract-microcornea-renal glucosuria syndrome1 test
Juvenile myelomonocytic leukemia6 tests
Juvenile myoclonic epilepsy2 tests
Juvenile nephropathic cystinosis4 tests
Juvenile onset Parkinson disease 19A2 tests
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome2 tests
Juvenile primary lateral sclerosis1 test
Juvenile retinoschisis1 test
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome1 test
Kabuki syndrome 14 tests
Kabuki syndrome 24 tests
Kahrizi syndrome2 tests
Kallikrein, decreased urinary activity of1 test
Kaposi sarcoma1 test
Kartagener syndrome2 tests
Karyomegalic interstitial nephritis1 test
KBG syndrome2 tests
Kennedy disease1 test
Keppen-Lubinsky syndrome2 tests
Keratoconus 11 test
Keratosis follicularis2 tests
Keratosis follicularis spinulosa decalvans, X-linked2 tests
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome1 test
Keratosis palmoplantaris striata 22 tests
Keratosis palmoplantaris striata 31 test
Ketoacidosis due to monocarboxylate transporter-1 deficiency2 tests
Keutel syndrome2 tests
Kindler syndrome1 test
Kleefstra syndrome 12 tests
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome2 tests
Klippel-Feil syndrome 1, autosomal dominant2 tests
Klippel-Feil syndrome 2, autosomal recessive2 tests
Klippel-Feil syndrome 3, autosomal dominant2 tests
Kniest dysplasia4 tests
Knobloch syndrome2 tests
KNOPS BLOOD GROUP SYSTEM3 tests
Knuckle pads, deafness AND leukonychia syndrome2 tests
Koolen-de Vries syndrome2 tests
Kostmann syndrome2 tests
Krabbe disease due to saposin A deficiency2 tests
Kufor-Rakeb syndrome1 test
Kugelberg-Welander disease8 tests
Kuru, susceptibility to1 test
L-2-hydroxyglutaric aciduria4 tests
L-ferritin deficiency1 test
Lafora disease8 tests
Lamb-Shaffer syndrome2 tests
LAMB2-related infantile-onset nephrotic syndrome2 tests
Landau-Kleffner syndrome4 tests
Langer mesomelic dysplasia syndrome4 tests
Langer-Giedion syndrome2 tests
Large congenital melanocytic nevus2 tests
Laron-type isolated somatotropin defect3 tests
Larsen syndrome4 tests
Larsen-like syndrome, B3GAT3 type2 tests
Laryngo-onycho-cutaneous syndrome4 tests
Late-onset retinal degeneration1 test
Lateral meningocele syndrome4 tests
Lathosterolosis2 tests
Lattice corneal dystrophy Type I1 test
Laurence-Moon syndrome2 tests
Laurin-Sandrow syndrome2 tests
LCAT deficiency2 tests
Leber congenital amaurosis 12 tests
Leber congenital amaurosis 102 tests
Leber congenital amaurosis 112 tests
Leber congenital amaurosis 121 test
Leber congenital amaurosis 132 tests
Leber congenital amaurosis 143 tests
Leber congenital amaurosis 151 test
Leber congenital amaurosis 161 test
Leber congenital amaurosis 171 test
Leber congenital amaurosis 22 tests
Leber congenital amaurosis 32 tests
Leber congenital amaurosis 46 tests
Leber congenital amaurosis 51 test
Leber congenital amaurosis 62 tests
Leber congenital amaurosis 72 tests
Leber congenital amaurosis 82 tests
Leber congenital amaurosis 91 test
Left ventricular noncompaction 11 test
Left ventricular noncompaction 104 tests
Left ventricular noncompaction 71 test
Left ventricular noncompaction 82 tests
Legg-Calve-Perthes disease2 tests
Legionnaire disease, susceptibility to1 test
Legius syndrome2 tests
Leigh syndrome36 tests
Lenz-Majewski hyperostosis syndrome2 tests
LEOPARD syndrome 12 tests
LEOPARD syndrome 22 tests
LEOPARD syndrome 32 tests
Leprechaunism syndrome2 tests
Leprosy, susceptibility to, 21 test
Leprosy, susceptibility to, 31 test
Leprosy, susceptibility to, 41 test
Leprosy, susceptibility to, 52 tests
Leri-Weill dyschondrosteosis2 tests
Lesch-Nyhan syndrome4 tests
Lethal acantholytic epidermolysis bullosa4 tests
Lethal arthrogryposis-anterior horn cell disease syndrome2 tests
Lethal congenital contracture syndrome 12 tests
Lethal congenital contracture syndrome 112 tests
Lethal congenital contracture syndrome 22 tests
Lethal congenital contracture syndrome 32 tests
Lethal congenital contracture syndrome 42 tests
Lethal congenital contracture syndrome 62 tests
Lethal congenital contracture syndrome 72 tests
Lethal congenital contracture syndrome 82 tests
Lethal congenital contracture syndrome 92 tests
Lethal congenital glycogen storage disease of heart2 tests
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome2 tests
Lethal Kniest-like syndrome2 tests
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome2 tests
Lethal multiple pterygium syndrome6 tests
Lethal occipital encephalocele-skeletal dysplasia syndrome2 tests
Lethal osteosclerotic bone dysplasia2 tests
Lethal polymalformative syndrome, Boissel type2 tests
Lethal tight skin contracture syndrome4 tests
Leucine-induced hypoglycemia2 tests
Leukemia, acute lymphoblastic, susceptibility to, 31 test
Leukocyte adhesion deficiency 12 tests
Leukocyte adhesion deficiency 32 tests
Leukocyte adhesion deficiency type II2 tests
Leukodystrophy and acquired microcephaly with or without dystonia;2 tests
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome2 tests
Leukoencephalopathy with mild cerebellar ataxia and white matter edema2 tests
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome2 tests
Leukoencephalopathy, progressive, with ovarian failure2 tests
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome2 tests
Leukonychia totalis1 test
Levy-Hollister syndrome10 tests
Lewy body dementia7 tests
Leydig cell agenesis2 tests
Li-Fraumeni syndrome 13 tests
Li-Fraumeni syndrome 24 tests
Lichtenstein-Knorr syndrome1 test
Liddle syndrome 14 tests
Limb-girdle muscular dystrophy due to POMK deficiency2 tests
Limb-mammary syndrome2 tests
Linear nevus sebaceous syndrome5 tests
Linear skin defects with multiple congenital anomalies 12 tests
Linear skin defects with multiple congenital anomalies 33 tests
Lipase deficiency, combined1 test
LIPE-related familial partial lipodystrophy1 test
Lipid proteinosis2 tests
Lipoic acid synthetase deficiency2 tests
Lipoprotein glomerulopathy1 test
Lipoyl transferase 1 deficiency2 tests
Lissencephaly 42 tests
Lissencephaly 6 with microcephaly2 tests
Lissencephaly 7 with cerebellar hypoplasia2 tests
Lissencephaly 82 tests
Lissencephaly due to LIS1 mutation4 tests
Lissencephaly due to TUBA1A mutation2 tests
Lissencephaly type 1 due to doublecortin gene mutation8 tests
Loeys-Dietz syndrome 14 tests
Loeys-Dietz syndrome 22 tests
Loeys-Dietz syndrome 42 tests
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency5 tests
Long QT syndrome 12 tests
Long QT syndrome 102 tests
Long QT syndrome 111 test
Long QT syndrome 121 test
Long QT syndrome 131 test
Long QT syndrome 141 test
Long QT syndrome 151 test
Long QT syndrome 25 tests
Long QT syndrome 32 tests
Long QT syndrome 51 test
Long QT syndrome 61 test
Long QT syndrome 92 tests
Loricrin keratoderma2 tests
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 61 test
Low phospholipid associated cholelithiasis2 tests
Lowe syndrome2 tests
Lower motor neuron syndrome with late-adult onset2 tests
Lucey-Driscoll syndrome1 test
Lung carcinoma18 tests
Lung disease, immunodeficiency, and chromosome breakage syndrome;2 tests
Luscan-Lumish syndrome2 tests
Lymphangiomyomatosis3 tests
Lymphatic malformation 32 tests
Lymphatic malformation 42 tests
Lymphatic malformation 62 tests
Lymphatic malformation 72 tests
Lymphedema-posterior choanal atresia syndrome2 tests
Lymphoproliferative syndrome 12 tests
Lymphoproliferative syndrome 22 tests
Lynch syndrome 11 test
Lynch syndrome 41 test
Lynch syndrome 51 test
Lynch syndrome 81 test
Lysinuric protein intolerance2 tests
Lysosomal acid lipase deficiency4 tests
LZTR1-related schwannomatosis2 tests
Macrocephaly, dysmorphic facies, and psychomotor retardation2 tests
Macrocephaly-autism syndrome4 tests
Macrocephaly-developmental delay syndrome2 tests
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome2 tests
Macrocephaly/megalencephaly syndrome, autosomal recessive2 tests
Macroglobulinemia, Waldenstrom, 11 test
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss2 tests
Macrothrombocytopenia, isolated, 1, autosomal dominant1 test
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome2 tests
Macular corneal dystrophy1 test
Macular degeneration, age-related, 32 tests
Macular degeneration, early-onset1 test
Macular degeneration, X-linked atrophic2 tests
Macular dystrophy with central cone involvement1 test
Majeed syndrome2 tests
Major affective disorder 71 test
Major depressive disorder5 tests
Malan overgrowth syndrome2 tests
Malaria, mild, susceptibility to1 test
Malaria, susceptibility to15 tests
Malignant hyperthermia, susceptibility to, 16 tests
Malignant hyperthermia, susceptibility to, 52 tests
Malignant tumor of esophagus6 tests
Malignant tumor of testis3 tests
Malignant tumor of urinary bladder4 tests
Mandibular hypoplasia-deafness-progeroid syndrome1 test
Mandibuloacral dysplasia with type A lipodystrophy2 tests
Mandibuloacral dysplasia with type B lipodystrophy4 tests
Mandibulofacial dysostosis with alopecia2 tests
Mandibulofacial dysostosis-microcephaly syndrome2 tests
Mannose-binding lectin deficiency2 tests
Maple syrup urine disease6 tests
Maple syrup urine disease, mild variant2 tests
Marden-Walker syndrome2 tests
Marfan syndrome2 tests
Marinesco-Sjögren syndrome2 tests
Marshall syndrome4 tests
Marshall-Smith syndrome2 tests
Martsolf syndrome2 tests
MASA syndrome4 tests
MASS syndrome2 tests
Mast syndrome1 test
Mastocytosis1 test
Maternal riboflavin deficiency2 tests
Matthew-Wood syndrome2 tests
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 131 test
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 32 tests
Maturity-onset diabetes of the young type 41 test
Maturity-onset diabetes of the young type 61 test
Maturity-onset diabetes of the young type 71 test
Maturity-onset diabetes of the young type 81 test
Maturity-onset diabetes of the young type 91 test
McCune-Albright syndrome1 test
McKusick-Kaufman syndrome2 tests
McLeod neuroacanthocytosis syndrome2 tests
Meacham syndrome4 tests
Meckel syndrome, type 12 tests
Meckel syndrome, type 102 tests
Meckel syndrome, type 112 tests
Meckel syndrome, type 22 tests
Meckel syndrome, type 32 tests
Meckel syndrome, type 44 tests
Meckel syndrome, type 52 tests
Meckel syndrome, type 62 tests
Meckel syndrome, type 82 tests
Meckel syndrome, type 92 tests
Meconium ileus2 tests
Medium-chain acyl-coenzyme A dehydrogenase deficiency4 tests
MEDNIK syndrome2 tests
Medulloblastoma5 tests
Meester-Loeys syndrome2 tests
Megaconial type congenital muscular dystrophy2 tests
Megalencephalic leukoencephalopathy with subcortical cysts 14 tests
Megalencephalic leukoencephalopathy with subcortical cysts 2A2 tests
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability2 tests
Megalencephaly-capillary malformation-polymicrogyria syndrome2 tests
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 12 tests
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 22 tests
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 32 tests
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness2 tests
MEGF10-related myopathy2 tests
MEGF8-related Carpenter syndrome2 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
MELANESIAN BLOND HAIR1 test
Melanoma and neural system tumor syndrome4 tests
Melanoma, cutaneous malignant, susceptibility to, 11 test
Melanoma, cutaneous malignant, susceptibility to, 22 tests
Melanoma, cutaneous malignant, susceptibility to, 32 tests
Melanoma, cutaneous malignant, susceptibility to, 51 test
Melanoma, cutaneous malignant, susceptibility to, 61 test
Melanoma, cutaneous malignant, susceptibility to, 82 tests
Melanoma, cutaneous malignant, susceptibility to, 92 tests
Melanoma-pancreatic cancer syndrome2 tests
Melioidosis, susceptibility to2 tests
Melnick-Needles syndrome4 tests
Melorheostosis2 tests
MEND syndrome2 tests
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency2 tests
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency2 tests
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency2 tests
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency3 tests
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency2 tests
Menkes kinky-hair syndrome4 tests
Menstrual cycle-dependent periodic fever1 test
Merosin deficient congenital muscular dystrophy4 tests
Mesoaxial synostotic syndactyly with phalangeal reduction1 test
Mesothelioma, malignant2 tests
Metabolic myopathy due to lactate transporter defect1 test
Metabolic syndrome X1 test
Metachondromatosis2 tests
Metachromatic leukodystrophy2 tests
Metaphyseal anadysplasia 22 tests
Metaphyseal chondrodysplasia, Jansen type2 tests
Metaphyseal chondrodysplasia, McKusick type2 tests
Metaphyseal chondrodysplasia, Schmid type3 tests
Metaphyseal chondrodysplasia, Spahr type2 tests
Metaphyseal dysplasia without hypotrichosis2 tests
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome4 tests
Metatropic dysplasia2 tests
Methemoglobinemia type 42 tests
Methylcobalamin deficiency type cblE2 tests
Methylcobalamin deficiency type cblG2 tests
Methylmalonate semialdehyde dehydrogenase deficiency2 tests
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency2 tests
Methylmalonic acidemia due to transcobalamin receptor defect2 tests
Methylmalonic acidemia with homocystinuria, type cblJ2 tests
Methylmalonic acidemia with homocystinuria, type cblX2 tests
Methylmalonic aciduria and homocystinuria type cblD6 tests
Methylmalonic aciduria and homocystinuria type cblF2 tests
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency3 tests
Methylmalonic aciduria, cblA type2 tests
Methylmalonic aciduria, cblB type2 tests
Mevalonic aciduria2 tests
MGAT2-congenital disorder of glycosylation2 tests
MHC class I deficiency8 tests
MHC class II deficiency8 tests
Microcephalic osteodysplastic primordial dwarfism type II2 tests
Microcephalic primordial dwarfism due to RTTN deficiency2 tests
Microcephalic primordial dwarfism due to ZNF335 deficiency2 tests
Microcephalic primordial dwarfism, Alazami type2 tests
Microcephaly 1, primary, autosomal recessive4 tests
Microcephaly 11, primary, autosomal recessive2 tests
Microcephaly 12, primary, autosomal recessive2 tests
Microcephaly 13, primary, autosomal recessive2 tests
Microcephaly 14, primary, autosomal recessive2 tests
Microcephaly 15, primary, autosomal recessive2 tests
Microcephaly 16, primary, autosomal recessive2 tests
Microcephaly 17, primary, autosomal recessive2 tests
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations2 tests
Microcephaly 3, primary, autosomal recessive4 tests
Microcephaly 4, primary, autosomal recessive2 tests
Microcephaly 5, primary, autosomal recessive4 tests
Microcephaly 6, primary, autosomal recessive4 tests
Microcephaly 7, primary, autosomal recessive4 tests
Microcephaly 8, primary, autosomal recessive2 tests
Microcephaly 9, primary, autosomal recessive2 tests
Microcephaly and chorioretinopathy 12 tests
Microcephaly and chorioretinopathy 22 tests
Microcephaly and chorioretinopathy 32 tests
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability2 tests
Microcephaly, epilepsy, and diabetes syndrome2 tests
Microcephaly, normal intelligence and immunodeficiency2 tests
Microcephaly, seizures, and developmental delay2 tests
Microcephaly, short stature, and impaired glucose metabolism 12 tests
Microcephaly, short stature, and impaired glucose metabolism 22 tests
Microcephaly-capillary malformation syndrome2 tests
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome2 tests
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome2 tests
Microcephaly-thin corpus callosum-intellectual disability syndrome2 tests
Microcornea-myopic chorioretinal atrophy1 test
Microcytic anemia1 test
Microcytic anemia with liver iron overload1 test
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome2 tests
Microphthalmia with brain and digit anomalies2 tests
Microphthalmia with limb anomalies2 tests
Microphthalmia, isolated, with coloboma 101 test
Microphthalmia, isolated, with coloboma 32 tests
Microphthalmia, isolated, with coloboma 54 tests
Microphthalmia, isolated, with coloboma 64 tests
Microphthalmia, isolated, with coloboma 71 test
Microphthalmia, isolated, with coloboma 91 test
Microphthalmia, syndromic 12 tests
Microphthalmia, syndromic 111 test
Microphthalmia, syndromic 121 test
Microspherophakia1 test
Microvascular complications of diabetes, susceptibility to, 11 test
Microvascular complications of diabetes, susceptibility to, 21 test
Microvascular complications of diabetes, susceptibility to, 41 test
Microvascular complications of diabetes, susceptibility to, 54 tests
Microvascular complications of diabetes, susceptibility to, 61 test
Microvascular complications of diabetes, susceptibility to, 72 tests
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2 tests
Migraine5 tests
Migraine, familial hemiplegic, 14 tests
Migraine, familial hemiplegic, 21 test
Migraine, familial hemiplegic, 32 tests
Migraine, with or without aura, susceptibility to, 131 test
Miller Dieker syndrome2 tests
Miller syndrome2 tests
MIRAGE syndrome2 tests
Mirror movements 11 test
Mirror movements 21 test
Mirror movements 31 test
Mismatch repair cancer syndrome 115 tests
Mitochondrial complex I deficiency, nuclear type 133 tests
Mitochondrial complex II deficiency, nuclear type 110 tests
Mitochondrial complex III deficiency nuclear type 12 tests
Mitochondrial complex III deficiency nuclear type 22 tests
Mitochondrial complex III deficiency nuclear type 32 tests
Mitochondrial complex III deficiency nuclear type 42 tests
Mitochondrial complex III deficiency nuclear type 52 tests
Mitochondrial complex III deficiency nuclear type 62 tests
Mitochondrial complex III deficiency nuclear type 72 tests
Mitochondrial complex III deficiency nuclear type 82 tests
Mitochondrial complex III deficiency nuclear type 92 tests
Mitochondrial complex IV deficiency, nuclear type 122 tests
Mitochondrial complex V (ATP synthase) deficiency nuclear type 32 tests
Mitochondrial complex V (ATP synthase) deficiency nuclear type 4B2 tests
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 14 tests
Mitochondrial DNA deletion syndrome with progressive myopathy2 tests
Mitochondrial DNA depletion syndrome 12 tests
Mitochondrial DNA depletion syndrome 112 tests
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant4 tests
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive4 tests
Mitochondrial DNA depletion syndrome 132 tests
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)2 tests
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)2 tests
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)4 tests
Mitochondrial DNA depletion syndrome 4b4 tests
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)4 tests
Mitochondrial DNA depletion syndrome 8a8 tests
Mitochondrial DNA depletion syndrome 94 tests
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria4 tests
Mitochondrial DNA depletion syndrome, myopathic form4 tests
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency2 tests
Mitochondrial myopathy-lactic acidosis-deafness syndrome2 tests
Mitochondrial pyruvate carrier deficiency2 tests
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency2 tests
Mitochondrial trifunctional protein deficiency3 tests
Mitral valve prolapse, myxomatous 21 test
Miyoshi muscular dystrophy 14 tests
Miyoshi muscular dystrophy 34 tests
MOGS-congenital disorder of glycosylation2 tests
Monilethrix3 tests
Monocytopenia with susceptibility to infections4 tests
MORM syndrome2 tests
Mosaic variegated aneuploidy syndrome 11 test
Mosaic variegated aneuploidy syndrome 21 test
Mowat-Wilson syndrome2 tests
Moyamoya disease 21 test
Moyamoya disease 51 test
Moyamoya disease with early-onset achalasia1 test
MPDU1-congenital disorder of glycosylation2 tests
MPI-congenital disorder of glycosylation2 tests
Mucolipidosis type II2 tests
Mucolipidosis type IV2 tests
Mucopolysaccharidosis type 62 tests
Mucopolysaccharidosis type 72 tests
Mucopolysaccharidosis, MPS-I-H/S2 tests
Mucopolysaccharidosis, MPS-I-S2 tests
Mucopolysaccharidosis, MPS-II4 tests
Mucopolysaccharidosis, MPS-III-A2 tests
Mucopolysaccharidosis, MPS-III-B2 tests
Mucopolysaccharidosis, MPS-III-C2 tests
Mucopolysaccharidosis, MPS-III-D2 tests
Mucopolysaccharidosis, MPS-IV-A2 tests
Mucopolysaccharidosis, MPS-IV-B2 tests
Muenke syndrome4 tests
Muir-Torré syndrome2 tests
Mulibrey nanism syndrome2 tests
Mullerian aplasia and hyperandrogenism2 tests
Multicentric carpo-tarsal osteolysis with or without nephropathy1 test
Multicentric osteolysis nodulosis arthropathy spectrum3 tests
Multiple acyl-CoA dehydrogenase deficiency6 tests
Multiple benign circumferential skin creases on limbs 12 tests
Multiple congenital anomalies-hypotonia-seizures syndrome 12 tests
Multiple congenital anomalies-hypotonia-seizures syndrome 22 tests
Multiple congenital anomalies-hypotonia-seizures syndrome 32 tests
Multiple congenital exostosis2 tests
Multiple endocrine neoplasia type 2A2 tests
Multiple endocrine neoplasia type 2B2 tests
Multiple endocrine neoplasia type 42 tests
Multiple endocrine neoplasia, type 18 tests
Multiple epiphyseal dysplasia type 42 tests
Multiple epiphyseal dysplasia, Al-Gazali type2 tests
Multiple epiphyseal dysplasia, Beighton type4 tests
Multiple fibroadenoma of the breast1 test
Multiple gastrointestinal atresias1 test
Multiple mitochondrial dysfunctions syndrome 12 tests
Multiple mitochondrial dysfunctions syndrome 22 tests
Multiple mitochondrial dysfunctions syndrome 32 tests
Multiple mitochondrial dysfunctions syndrome 42 tests
Multiple myeloma2 tests
Multiple sclerosis, susceptibility to3 tests
Multiple sclerosis, susceptibility to, 51 test
Multiple self-healing squamous epithelioma2 tests
Multiple sulfatase deficiency2 tests
Multiple synostoses syndrome 21 test
Multiple synostoses syndrome 31 test
Multiple system atrophy1 test
Multisystemic smooth muscle dysfunction syndrome1 test
Muscle AMP deaminase deficiency2 tests
Muscle eye brain disease4 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 102 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 112 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 122 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 44 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 72 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 82 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A18 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A132 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A143 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A54 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A62 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A92 tests
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 tests
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B142 tests
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B24 tests
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B34 tests
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B44 tests
Muscular dystrophy-dystroglycanopathy type B54 tests
Muscular dystrophy-dystroglycanopathy type B62 tests
Mutilating keratoderma1 test
Myasthenic syndrome, congenital, 1B, fast-channel2 tests
Myasthenic syndrome, congenital, 222 tests
Mycobacterium tuberculosis, susceptibility to13 tests
Myelodysplastic syndrome5 tests
Myelodysplastic syndrome associated with isolated del(5q)2 tests
Myeloid neoplasm associated with FGFR1 rearrangement2 tests
Myeloperoxidase deficiency2 tests
Myeloproliferative disorder, chronic, with eosinophilia1 test
MYH7-related skeletal myopathy4 tests
Myhre syndrome4 tests
Myocardial infarction, susceptibility to, 112 tests
Myoclonic dystonia 112 tests
Myoclonic dystonia 261 test
Myoclonus, familial, 11 test
Myoclonus, intractable, neonatal1 test
Myofibrillar myopathy 22 tests
Myofibrillar myopathy 38 tests
Myofibrillar myopathy 42 tests
Myofibrillar myopathy 52 tests
Myofibrillar myopathy 64 tests
Myofibrillar myopathy 72 tests
Myofibrillar myopathy 82 tests
Myofibromatosis, infantile, 11 test
Myofibromatosis, infantile, 22 tests
Myoglobinuria, acute recurrent, autosomal recessive1 test
Myopathy due to calsequestrin and SERCA1 protein overload2 tests
Myopathy with abnormal lipid metabolism1 test
Myopathy, centronuclear, 22 tests
Myopathy, centronuclear, 52 tests
Myopathy, distal, 52 tests
Myopathy, distal, with rimmed vacuoles1 test
Myopathy, lactic acidosis, and sideroblastic anemia 12 tests
Myopathy, lactic acidosis, and sideroblastic anemia 22 tests
Myopathy, myofibrillar, 9, with early respiratory failure2 tests
Myopathy, myosin storage, autosomal recessive4 tests
Myopathy, proximal, and ophthalmoplegia2 tests
Myopathy, reducing body, X-linked, childhood-onset3 tests
Myopathy, reducing body, X-linked, early-onset, severe2 tests
Myopathy, tubular aggregate, 12 tests
Myopathy, tubular aggregate, 22 tests
Myopia 21, autosomal dominant1 test
Myopia 22, autosomal dominant1 test
Myopia 23, autosomal recessive1 test
Myopia 24, autosomal dominant1 test
Myopia 25, autosomal dominant1 test
Myopia 61 test
Myopia, high, with cataract and vitreoretinal degeneration1 test
Myosclerosis2 tests
Myosin storage myopathy6 tests
Myostatin-related muscle hypertrophy2 tests
Myotonic dystrophy type 21 test
MYPN-related myopathy2 tests
Myxoid liposarcoma2 tests
N-acetylaspartate deficiency2 tests
Naegeli-Franceschetti-Jadassohn syndrome4 tests
Nager syndrome2 tests
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome2 tests
Nail-patella syndrome4 tests
Namaqualand hip dysplasia2 tests
Nance-Horan syndrome2 tests
Nanophthalmos 21 test
Nanophthalmos 41 test
Narcolepsy 11 test
Narcolepsy 71 test
Nasopharyngeal carcinoma5 tests
Naxos disease2 tests
NDE1-related microhydranencephaly1 test
NEK9-related lethal skeletal dysplasia2 tests
Nemaline myopathy 102 tests
Nemaline myopathy 22 tests
Nemaline myopathy 52 tests
Nemaline myopathy 62 tests
Nemaline myopathy 72 tests
Nemaline myopathy 82 tests
Nemaline myopathy 92 tests
Neonatal diabetes mellitus with congenital hypothyroidism2 tests
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome2 tests
Neonatal ichthyosis-sclerosing cholangitis syndrome2 tests
Neonatal intrahepatic cholestasis due to citrin deficiency2 tests
Neonatal severe primary hyperparathyroidism2 tests
Neonatal-onset encephalopathy with rigidity and seizures2 tests
Neoplasm of stomach8 tests
Nephrogenic syndrome of inappropriate antidiuresis1 test
Nephrolithiasis, uric acid, susceptibility to1 test
Nephronophthisis 14 tests
Nephronophthisis 112 tests
Nephronophthisis 122 tests
Nephronophthisis 132 tests
Nephronophthisis 144 tests
Nephronophthisis 152 tests
Nephronophthisis 162 tests
Nephronophthisis 182 tests
Nephronophthisis 192 tests
Nephronophthisis 202 tests
Nephronophthisis 32 tests
Nephronophthisis 44 tests
Nephronophthisis 71 test
Nephronophthisis 92 tests
Nephronophthisis-like nephropathy 12 tests
Nephropathic cystinosis8 tests
Nephrotic syndrome, type 102 tests
Nephrotic syndrome, type 112 tests
Nephrotic syndrome, type 122 tests
Nephrotic syndrome, type 132 tests
Nephrotic syndrome, type 22 tests
Nephrotic syndrome, type 32 tests
Nephrotic syndrome, type 44 tests
Nephrotic syndrome, type 62 tests
Nephrotic syndrome, type 82 tests
Nephrotic syndrome, type 92 tests
Nestor-Guillermo progeria syndrome2 tests
Netherton syndrome2 tests
Neu-Laxova syndrome 12 tests
Neu-Laxova syndrome 23 tests
Neural tube defect6 tests
Neural tube defects, folate-sensitive5 tests
Neuroblastoma2 tests
Neuroblastoma, susceptibility to, 26 tests
Neuroblastoma, susceptibility to, 31 test
Neurocirculatory asthenia1 test
Neurocutaneous melanocytosis1 test
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset2 tests
Neurodegeneration with brain iron accumulation 2B4 tests
Neurodegeneration with brain iron accumulation 42 tests
Neurodegeneration with brain iron accumulation 52 tests
Neurodegeneration with brain iron accumulation 62 tests
Neurodevelopmental disorder with hypotonia, seizures, and absent language2 tests
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities2 tests
Neuroferritinopathy2 tests
Neurofibromatosis, familial spinal6 tests
Neurofibromatosis, type 16 tests
Neurofibromatosis, type 24 tests
Neurofibromatosis-Noonan syndrome6 tests
Neurogenic scapuloperoneal syndrome, Kaeser type1 test
Neurohypophyseal diabetes insipidus1 test
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset2 tests
Neuronal ceroid lipofuscinosis 12 tests
Neuronal ceroid lipofuscinosis 102 tests
Neuronal ceroid lipofuscinosis 112 tests
Neuronal ceroid lipofuscinosis 132 tests
Neuronal ceroid lipofuscinosis 22 tests
Neuronal ceroid lipofuscinosis 32 tests
Neuronal ceroid lipofuscinosis 52 tests
Neuronal ceroid lipofuscinosis 72 tests
Neuronal ceroid lipofuscinosis 82 tests
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant2 tests
Neuronopathy, distal hereditary motor, autosomal recessive 42 tests
Neuronopathy, distal hereditary motor, autosomal recessive 52 tests
Neuronopathy, distal hereditary motor, type 2A1 test
Neuronopathy, distal hereditary motor, type 2B2 tests
Neuronopathy, distal hereditary motor, type 2C2 tests
Neuronopathy, distal hereditary motor, type 2D1 test
Neuronopathy, distal hereditary motor, type 5A1 test
Neuronopathy, distal hereditary motor, type 5B4 tests
Neuronopathy, distal hereditary motor, type 7A2 tests
Neuronopathy, distal hereditary motor, type 7B1 test
Neuropathy, hereditary motor and sensory, type 6B1 test
Neuropathy, hereditary sensory and autonomic, type 1C1 test
Neuropathy, hereditary sensory, type 1D1 test
Neuropathy, hereditary sensory, type 1F1 test
Neutral 1 amino acid transport defect2 tests
Neutral lipid storage myopathy2 tests
Neutropenia, severe congenital, 1, autosomal dominant2 tests
Neutropenia, severe congenital, 2, autosomal dominant2 tests
Neutrophil immunodeficiency syndrome2 tests
Newfoundland cone-rod dystrophy1 test
Nicolaides-Baraitser syndrome2 tests
Niemann-Pick disease, type A2 tests
Niemann-Pick disease, type B2 tests
Niemann-Pick disease, type C18 tests
Niemann-Pick disease, type C24 tests
Nijmegen breakage syndrome-like disorder2 tests
Non-acquired combined pituitary hormone deficiency with spine abnormalities2 tests
Non-Hodgkin lymphoma6 tests
Nonarteritic anterior ischemic optic neuropathy, susceptibility to1 test
Nonimmune chronic idiopathic neutropenia of adults2 tests
Nonpapillary renal cell carcinoma11 tests
Nonpersistence of intestinal lactase1 test
Nonsyndromic congenital nail disorder 82 tests
Noonan syndrome 12 tests
Noonan syndrome 104 tests
Noonan syndrome 34 tests
Noonan syndrome 42 tests
Noonan syndrome 52 tests
Noonan syndrome 64 tests
Noonan syndrome 72 tests
Noonan syndrome 82 tests
Noonan syndrome 92 tests
Noonan syndrome-like disorder with loose anagen hair 11 test
Norman-Roberts syndrome2 tests
Normophosphatemic familial tumoral calcinosis1 test
NPHP3-related Meckel-like syndrome2 tests
Nystagmus 1, congenital, X-linked4 tests
Nystagmus 6, congenital, X-linked2 tests
Obesity20 tests
OBESITY (BMIQ9), SUSCEPTIBILITY TO2 tests
Obesity due to CEP19 deficiency1 test
Obesity due to congenital leptin deficiency2 tests
Obesity due to leptin receptor gene deficiency2 tests
Obesity due to pro-opiomelanocortin deficiency2 tests
Obesity due to prohormone convertase I deficiency1 test
Obesity, hyperphagia, and developmental delay1 test
Obsessive-compulsive disorder4 tests
Occipital pachygyria and polymicrogyria2 tests
Occult macular dystrophy1 test
Ocular albinism with congenital sensorineural hearing loss8 tests
Ocular albinism, type I2 tests
Ocular cystinosis4 tests
Oculoauricular syndrome1 test
Oculocerebrofacial syndrome, Kaufman type2 tests
Oculocutaneous albinism type 1A2 tests
Oculocutaneous albinism type 1B2 tests
Oculocutaneous albinism type 31 test
Oculocutaneous albinism type 41 test
Oculocutaneous albinism type 71 test
Oculodentodigital dysplasia2 tests
Oculodentodigital dysplasia, autosomal recessive2 tests
Oculofaciocardiodental syndrome1 test
Oculomaxillofacial dysostosis2 tests
Oculootoradial syndrome4 tests
Oculopharyngeal muscular dystrophy2 tests
Oculotrichoanal syndrome2 tests
Odonto-onycho-dermal dysplasia1 test
Ogden syndrome1 test
Oguchi disease2 tests
Oguchi disease-22 tests
Okt4 epitope deficiency4 tests
Okur-Chung neurodevelopmental syndrome2 tests
Oligodontia-cancer predisposition syndrome1 test
Olmsted syndrome 12 tests
Olmsted syndrome, X-linked2 tests
Oocyte maturation defect 21 test
Opsismodysplasia2 tests
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures2 tests
Optic atrophy 111 test
Optic atrophy 31 test
Optic atrophy 91 test
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy2 tests
Ornithine aminotransferase deficiency2 tests
Ornithine carbamoyltransferase deficiency4 tests
Orofacial cleft 102 tests
Orofacial cleft 114 tests
Orofacial cleft 152 tests
Orofacial cleft 52 tests
Orofacial cleft 6, susceptibility to4 tests
Orofacial-digital syndrome IV2 tests
Orofaciodigital syndrome I2 tests
Orofaciodigital syndrome type 142 tests
Orofaciodigital syndrome type 62 tests
Orofaciodigital syndrome V2 tests
Orofaciodigital syndrome XV2 tests
Oroticaciduria2 tests
Orthostatic hypotension 13 tests
Osteoarthritis1 test
Osteoarthritis of distal interphalangeal joint1 test
Osteoarthritis susceptibility 31 test
Osteoarthritis, hip1 test
Osteochondritis dissecans1 test
Osteocraniostenosis2 tests
Osteodysplastic primordial dwarfism, type 12 tests
Osteofibrous dysplasia2 tests
Osteogenesis imperfecta type 102 tests
Osteogenesis imperfecta type 112 tests
Osteogenesis imperfecta type 122 tests
Osteogenesis imperfecta type 132 tests
Osteogenesis imperfecta type 142 tests
Osteogenesis imperfecta type 152 tests
Osteogenesis imperfecta type 162 tests
Osteogenesis imperfecta type 172 tests
Osteogenesis imperfecta type 52 tests
Osteogenesis imperfecta type 62 tests
Osteogenesis imperfecta type 72 tests
Osteogenesis imperfecta type 82 tests
Osteogenesis imperfecta type 92 tests
Osteogenesis imperfecta type I4 tests
Osteogenesis imperfecta type III8 tests
Osteogenesis imperfecta with normal sclerae, dominant form8 tests
Osteogenesis imperfecta, perinatal lethal8 tests
Osteoglophonic dysplasia4 tests
Osteopathia striata with cranial sclerosis2 tests
Osteopetrosis with renal tubular acidosis1 test
Osteoporosis with pseudoglioma4 tests
OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO1 test
Otodental syndrome2 tests
Otofaciocervical syndrome 14 tests
Otofaciocervical syndrome 22 tests
Otospondylomegaepiphyseal dysplasia, autosomal dominant1 test
Otospondylomegaepiphyseal dysplasia, autosomal recessive2 tests
Ovarian dysgenesis 11 test
Ovarian dysgenesis 22 tests
Ovarian dysgenesis 31 test
Ovarian hyperstimulation syndrome1 test
Ovarian neoplasm5 tests
Overhydrated hereditary stomatocytosis3 tests
Oxoglutaricaciduria2 tests
p phenotype1 test
Pachyonychia congenita 11 test
Pachyonychia congenita 21 test
Pachyonychia congenita 31 test
Pachyonychia congenita 41 test
Paget disease of bone 2, early-onset1 test
Paget disease of bone 31 test
Paget disease of bone 61 test
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome2 tests
Pallister-Hall syndrome4 tests
Palmoplantar keratoderma i, striate, focal, or diffuse1 test
Palmoplantar keratoderma, Bothnian type1 test
Palmoplantar keratoderma, epidermolytic2 tests
Palmoplantar keratoderma, Nagashima type1 test
Palmoplantar keratoderma, nonepidermolytic, focal 11 test
Palmoplantar keratoderma, nonepidermolytic, focal or diffuse1 test
Palmoplantar keratoderma, punctate type 1A1 test
Palmoplantar keratoderma-deafness syndrome1 test
Palmoplantar keratoderma-esophageal carcinoma syndrome1 test
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome2 tests
Pancreatic agenesis 12 tests
Pancreatic agenesis 22 tests
Pancreatic cancer, susceptibility to, 11 test
Pancreatic cancer, susceptibility to, 22 tests
Pancreatic cancer, susceptibility to, 32 tests
Pancreatic cancer, susceptibility to, 42 tests
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome2 tests
Pancreatic insufficiency-anemia-hyperostosis syndrome2 tests
Pancreatic triacylglycerol lipase deficiency1 test
Pancytopenia due to IKZF1 mutations2 tests
Pancytopenia-developmental delay syndrome2 tests
Panhypopituitarism, X-linked1 test
Panic disorder 11 test
Papillary renal cell carcinoma type 12 tests
Papillon-Lefèvre syndrome1 test
Paragangliomas 12 tests
Paramyotonia congenita of Von Eulenburg4 tests
Parastremmatic dwarfism2 tests
Parathyroid carcinoma2 tests
Parietal foramina 12 tests
Parietal foramina 22 tests
Parietal foramina with cleidocranial dysplasia2 tests
Parkinson disease 11, autosomal dominant, susceptibility to1 test
Parkinson disease 13, autosomal dominant, susceptibility to1 test
Parkinson disease 171 test
Parkinson disease 18, autosomal dominant, susceptibility to1 test
Parkinson disease 22, autosomal dominant1 test
Parkinson disease 5, autosomal dominant, susceptibility to2 tests
Parkinson disease, late-onset7 tests
Parkinsonian-pyramidal syndrome1 test
Paroxysmal extreme pain disorder1 test
Paroxysmal nocturnal hemoglobinuria 11 test
Paroxysmal nocturnal hemoglobinuria 21 test
Paroxysmal nonkinesigenic dyskinesia 13 tests
Partial androgen insensitivity syndrome4 tests
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency2 tests
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome2 tests
Partington syndrome4 tests
Patent ductus arteriosus 21 test
Patent ductus arteriosus 31 test
Patterned macular dystrophy 12 tests
Patterned macular dystrophy 21 test
Patterned macular dystrophy 31 test
PCWH syndrome2 tests
Peeling skin syndrome 11 test
Peeling skin syndrome 41 test
Peeling skin syndrome 51 test
Peeling skin syndrome type A1 test
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome1 test
Pelger-Huët anomaly2 tests
Pelizaeus-Merzbacher disease4 tests
Pelviscapular dysplasia2 tests
Pendred syndrome2 tests
PERCHING syndrome2 tests
Periodic fever-infantile enterocolitis-autoinflammatory syndrome1 test
Periodontitis, aggressive 11 test
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome1 test
Periventricular heterotopia with microcephaly, autosomal recessive2 tests
Periventricular nodular heterotopia 62 tests
Periventricular nodular heterotopia 72 tests
Perlman syndrome2 tests
Permanent neonatal diabetes mellitus6 tests
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome2 tests
Peroxisome biogenesis disorder 10A (Zellweger)2 tests
Peroxisome biogenesis disorder 10B2 tests
Peroxisome biogenesis disorder 11A (Zellweger)2 tests
Peroxisome biogenesis disorder 11B2 tests
Peroxisome biogenesis disorder 12A (Zellweger)2 tests
Peroxisome biogenesis disorder 13A (Zellweger)2 tests
Peroxisome biogenesis disorder 14B2 tests
Peroxisome biogenesis disorder 1A (Zellweger)2 tests
Peroxisome biogenesis disorder 1B2 tests
Peroxisome biogenesis disorder 2A (Zellweger)2 tests
Peroxisome biogenesis disorder 2B2 tests
Peroxisome biogenesis disorder 3A (Zellweger)2 tests
Peroxisome biogenesis disorder 4A (Zellweger)2 tests
Peroxisome biogenesis disorder 4B2 tests
Peroxisome biogenesis disorder 5A (Zellweger)2 tests
Peroxisome biogenesis disorder 5B2 tests
Peroxisome biogenesis disorder 6A (Zellweger)2 tests
Peroxisome biogenesis disorder 6B2 tests
Peroxisome biogenesis disorder 7A (Zellweger)2 tests
Peroxisome biogenesis disorder 7B2 tests
Peroxisome biogenesis disorder 8A (Zellweger)2 tests
Peroxisome biogenesis disorder 8B2 tests
Peroxisome biogenesis disorder 9B2 tests
Peroxisome biogenesis disorder type 3B2 tests
Perrault syndrome 12 tests
Perrault syndrome 22 tests
Perrault syndrome 32 tests
Perrault syndrome 42 tests
Perrault syndrome 54 tests
Perry syndrome2 tests
Persistent hyperplastic primary vitreous, autosomal recessive1 test
Persistent Mullerian duct syndrome2 tests
Peters plus syndrome2 tests
Pettigrew syndrome3 tests
Peutz-Jeghers syndrome3 tests
Pfeiffer syndrome8 tests
PGM1-congenital disorder of glycosylation2 tests
PHARC syndrome2 tests
Phelan-McDermid syndrome2 tests
Phenylketonuria6 tests
Pheochromocytoma10 tests
PHGDH deficiency2 tests
Phosphate transport defect2 tests
Phosphoenolpyruvate carboxykinase deficiency, cytosolic2 tests
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial3 tests
Phosphohydroxylysinuria1 test
Phosphoribosylpyrophosphate synthetase superactivity2 tests
Phytanic acid storage disease3 tests
Pick disease4 tests
Piebaldism4 tests
Pierpont syndrome2 tests
Pierson syndrome2 tests
Pigmentary pallidal degeneration4 tests
Pigmentary retinal dystrophy7 tests
Pigmented nodular adrenocortical disease, primary, 11 test
Pigmented nodular adrenocortical disease, primary, 21 test
Pigmented nodular adrenocortical disease, primary, 31 test
Pigmented nodular adrenocortical disease, primary, 41 test
Pigmented paravenous retinochoroidal atrophy2 tests
Pili torti-deafness syndrome2 tests
Pilomatrixoma2 tests
Pitt-Hopkins syndrome2 tests
Pitt-Hopkins-like syndrome 24 tests
Pituitary dependent hypercortisolism2 tests
Pituitary hormone deficiency, combined, 12 tests
Pituitary hormone deficiency, combined, 22 tests
Pituitary hormone deficiency, combined, 61 test
Pityriasis rubra pilaris1 test
Plasma fibronectin deficiency1 test
Plasma triglyceride level quantitative trait locus1 test
Plasminogen deficiency, type I2 tests
Platelet-activating factor acetylhydrolase deficiency1 test
Platelet-type bleeding disorder 102 tests
Platelet-type bleeding disorder 111 test
Platelet-type bleeding disorder 151 test
Platelet-type bleeding disorder 162 tests
Platelet-type bleeding disorder 171 test
Platelet-type bleeding disorder 181 test
Platelet-type bleeding disorder 191 test
Platelet-type bleeding disorder 201 test
Platelet-type bleeding disorder 82 tests
Platelet-type bleeding disorder 92 tests
Platyspondylic dysplasia, Torrance type4 tests
Pleomorphic adenoma of salivary gland1 test
PLIN1-related familial partial lipodystrophy1 test
PMM2-congenital disorder of glycosylation2 tests
Poikiloderma with neutropenia1 test
Polyagglutinable erythrocyte syndrome1 test
Polycystic kidney disease 24 tests
Polycystic kidney disease 3 with or without polycystic liver disease2 tests
Polycystic kidney disease, adult type4 tests
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 13 tests
Polycystic liver disease 12 tests
Polycystic liver disease 22 tests
Polydactyly of a triphalangeal thumb3 tests
Polydactyly, postaxial, type A12 tests
Polyendocrine-polyneuropathy syndrome1 test
Polyglandular autoimmune syndrome, type 12 tests
Polyglucosan body myopathy type 12 tests
Polyglucosan body myopathy type 22 tests
Polyhydramnios, megalencephaly, and symptomatic epilepsy1 test
Polymicrogyria with optic nerve hypoplasia2 tests
Polymicrogyria, bilateral perisylvian, autosomal recessive2 tests
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis2 tests
Polyposis syndrome, hereditary mixed, 12 tests
Polyposis syndrome, hereditary mixed, 22 tests
Polysubstance abuse, susceptibility to2 tests
Polysyndactyly 42 tests
Pontocerebellar hypoplasia type 102 tests
Pontocerebellar hypoplasia type 1A2 tests
Pontocerebellar hypoplasia type 1B2 tests
Pontocerebellar hypoplasia type 2A2 tests
Pontocerebellar hypoplasia type 2B2 tests
Pontocerebellar hypoplasia type 2C2 tests
Pontocerebellar hypoplasia type 2D2 tests
Pontocerebellar hypoplasia type 2E2 tests
Pontocerebellar hypoplasia type 32 tests
Pontocerebellar hypoplasia type 42 tests
Pontocerebellar hypoplasia type 52 tests
Pontocerebellar hypoplasia type 62 tests
Pontocerebellar hypoplasia type 82 tests
Pontocerebellar hypoplasia type 92 tests
Pontocerebellar hypoplasia, type 1C2 tests
Pontocerebellar hypoplasia, type 2F2 tests
Popliteal pterygium syndrome4 tests
Porencephaly 22 tests
Porencephaly-microcephaly-bilateral congenital cataract syndrome2 tests
Porokeratosis 3, disseminated superficial actinic type1 test
Porokeratosis 7, multiple types1 test
Porokeratosis 8, disseminated superficial actinic type1 test
Porokeratosis 9, multiple types1 test
Porokeratosis of Mibelli1 test
Porphobilinogen synthase deficiency6 tests
Portal hypertension, noncirrhotic4 tests
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome3 tests
Posterior column ataxia-retinitis pigmentosa syndrome1 test
Posterior polymorphous corneal dystrophy 11 test
Posterior polymorphous corneal dystrophy 21 test
Posterior polymorphous corneal dystrophy 31 test
Postmenopausal osteoporosis9 tests
Potassium-aggravated myotonia2 tests
PPARG-related familial partial lipodystrophy4 tests
Prader-Willi syndrome8 tests
Precocious puberty, central, 22 tests
Predisposition to invasive fungal disease due to CARD9 deficiency2 tests
Preeclampsia/eclampsia 41 test
Preeclampsia/eclampsia 51 test
Pregnancy loss, recurrent, susceptibility to, 12 tests
Pregnancy loss, recurrent, susceptibility to, 21 test
Pregnancy loss, recurrent, susceptibility to, 31 test
Preimplantation embryonic lethality 21 test
Prekallikrein deficiency1 test
Premature chromatid separation trait1 test
Premature ovarian failure 12 tests
Premature ovarian failure 101 test
Premature ovarian failure 111 test
Premature ovarian failure 121 test
Premature ovarian failure 2A1 test
Premature ovarian failure 2B1 test
Premature ovarian failure 32 tests
Premature ovarian failure 51 test
Premature ovarian failure 61 test
Premature ovarian failure 74 tests
Premature ovarian failure 81 test
Premature ovarian failure 91 test
Preterm premature rupture of membranes1 test
Pretibial dystrophic epidermolysis bullosa4 tests
Primary CD59 deficiency2 tests
Primary ciliary dyskinesia 101 test
Primary ciliary dyskinesia 111 test
Primary ciliary dyskinesia 121 test
Primary ciliary dyskinesia 131 test
Primary ciliary dyskinesia 141 test
Primary ciliary dyskinesia 151 test
Primary ciliary dyskinesia 161 test
Primary ciliary dyskinesia 171 test
Primary ciliary dyskinesia 181 test
Primary ciliary dyskinesia 191 test
Primary ciliary dyskinesia 21 test
Primary ciliary dyskinesia 201 test
Primary ciliary dyskinesia 211 test
Primary ciliary dyskinesia 221 test
Primary ciliary dyskinesia 231 test
Primary ciliary dyskinesia 241 test
Primary ciliary dyskinesia 251 test
Primary ciliary dyskinesia 261 test
Primary ciliary dyskinesia 271 test
Primary ciliary dyskinesia 281 test
Primary ciliary dyskinesia 291 test
Primary ciliary dyskinesia 32 tests
Primary ciliary dyskinesia 301 test
Primary ciliary dyskinesia 321 test
Primary ciliary dyskinesia 331 test
Primary ciliary dyskinesia 341 test
Primary ciliary dyskinesia 351 test
Primary ciliary dyskinesia 51 test
Primary ciliary dyskinesia 61 test
Primary ciliary dyskinesia 71 test
Primary ciliary dyskinesia 91 test
Primary coenzyme Q10 deficiency 82 tests
Primary erythromelalgia3 tests
Primary failure of tooth eruption1 test
Primary familial polycythemia due to EPO receptor mutation3 tests
Primary hyperoxaluria type 32 tests
Primary hyperoxaluria, type I4 tests
Primary hyperoxaluria, type II4 tests
Primary hypomagnesemia1 test
Primary immunodeficiency syndrome due to p14 deficiency2 tests
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency2 tests
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection2 tests
Primary intraosseous venous malformation1 test
Primary myelofibrosis4 tests
Primary open angle glaucoma1 test
Primrose syndrome2 tests
Progeroid and marfanoid aspect-lipodystrophy syndrome2 tests
Progeroid features-hepatocellular carcinoma predisposition syndrome2 tests
Progesterone resistance1 test
Progressive bulbar palsy of childhood2 tests
Progressive demyelinating neuropathy with bilateral striatal necrosis1 test
Progressive encephalopathy with leukodystrophy due to DECR deficiency2 tests
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome2 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 12 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 24 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 34 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 44 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 54 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 12 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 22 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 34 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 44 tests
Progressive familial heart block type IB1 test
Progressive familial heart block, type 1A4 tests
Progressive familial intrahepatic cholestasis type 12 tests
Progressive familial intrahepatic cholestasis type 22 tests
Progressive familial intrahepatic cholestasis type 34 tests
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome2 tests
Progressive myoclonic epilepsy type 32 tests
Progressive myoclonic epilepsy type 62 tests
Progressive myoclonic epilepsy type 72 tests
Progressive myoclonic epilepsy type 82 tests
Progressive myoclonic epilepsy type 92 tests
Progressive myositis ossificans2 tests
Progressive osseous heteroplasia2 tests
Progressive pseudorheumatoid dysplasia4 tests
Progressive retinal dystrophy due to retinol transport defect2 tests
Progressive scapulohumeroperoneal distal myopathy2 tests
Progressive sclerosing poliodystrophy4 tests
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome2 tests
Progressive supranuclear ophthalmoplegia2 tests
Progressive supranuclear palsy-parkinsonism syndrome2 tests
Prolactin-producing pituitary gland adenoma2 tests
Prolidase deficiency2 tests
Proliferative vitreoretinopathy1 test
Proline dehydrogenase deficiency1 test
Properdin deficiency, X-linked1 test
Propionic acidemia6 tests
Prostate cancer16 tests
Prostate cancer, hereditary, 11 test
Prostate cancer, hereditary, 131 test
Prostate cancer, hereditary, 21 test
Prostate cancer/brain cancer susceptibility1 test
Protan defect1 test
Proteasome-associated autoinflammatory syndrome 11 test
Protein Z deficiency1 test
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis1 test
Proteus syndrome1 test
Protoporphyria, erythropoietic, 14 tests
Proximal 16p11.2 microdeletion syndrome3 tests
Proximal myopathy with extrapyramidal signs2 tests
Proximal symphalangism 1A1 test
Prune belly syndrome2 tests
PSAT deficiency1 test
Pseudo von Willebrand disease1 test
Pseudo-Hurler polydystrophy1 test
Pseudo-TORCH syndrome 12 tests
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome2 tests
Pseudoexfoliation glaucoma1 test
Pseudofolliculitis barbae1 test
Pseudohyperaldosteronism type 21 test
Pseudohypoaldosteronism type 2B1 test
Pseudohypoaldosteronism type 2C1 test
Pseudohypoaldosteronism type 2D1 test
Pseudohypoaldosteronism type 2E1 test
Pseudohypoaldosteronism, type IB1, autosomal recessive3 tests
Pseudohypoparathyroidism2 tests
Pseudohypoparathyroidism type 1B4 tests
Pseudohypoparathyroidism type 1C2 tests
Pseudopseudohypoparathyroidism2 tests
Pseudoxanthoma elasticum, forme fruste2 tests
Psoriasis 1, susceptibility to1 test
Psoriasis 13, susceptibility to1 test
Psoriasis 15, pustular, susceptibility to1 test
Psoriasis 21 test
Psoriasis 7, susceptibility to1 test
Psoriatic arthritis, susceptibility to2 tests
Psychomotor retardation, epilepsy, and craniofacial dysmorphism2 tests
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency2 tests
Ptosis, hereditary congenital, 11 test
PULMONARY ALVEOLAR MICROLITHIASIS1 test
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 12 tests
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 27 tests
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 31 test
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 41 test
Pulmonary hypertension, neonatal, susceptibility to2 tests
Pulmonary hypertension, primary, 18 tests
Pulmonary hypertension, primary, 22 tests
Pulmonary hypertension, primary, 32 tests
Pulmonary hypertension, primary, 42 tests
Pulmonary venoocclusive disease 12 tests
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome2 tests
Purine-nucleoside phosphorylase deficiency2 tests
PYCR1-related de Barsy syndrome2 tests
Pyknodysostosis2 tests
Pyle metaphyseal dysplasia1 test
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome2 tests
Pyogenic bacterial infections due to MyD88 deficiency2 tests
Pyridoxal phosphate-responsive seizures2 tests
Pyridoxine-dependent epilepsy1 test
Pyropoikilocytosis, hereditary1 test
Pyruvate carboxylase deficiency2 tests
Pyruvate dehydrogenase E1-alpha deficiency2 tests
Pyruvate dehydrogenase E1-beta deficiency2 tests
Pyruvate dehydrogenase E2 deficiency2 tests
Pyruvate dehydrogenase E3 deficiency2 tests
Pyruvate dehydrogenase E3-binding protein deficiency2 tests
Pyruvate dehydrogenase phosphatase deficiency2 tests
Pyruvate kinase deficiency of red cells4 tests
Pyruvate kinase hyperactivity2 tests
Quebec platelet disorder1 test
Question mark ears, isolated1 test
RAB23-related Carpenter syndrome2 tests
Rabson-Mendenhall syndrome1 test
Radial aplasia-thrombocytopenia syndrome1 test
Radioulnar synostosis with amegakaryocytic thrombocytopenia 12 tests
Radioulnar synostosis with amegakaryocytic thrombocytopenia 22 tests
Rafiq syndrome2 tests
Rapadilino syndrome2 tests
Rapp-Hodgkin syndrome4 tests
RCBTB1-related retinopathy2 tests
Recessive dystrophic epidermolysis bullosa10 tests
RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 11 test
Recurrent infections associated with rare immunoglobulin isotypes deficiency2 tests
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome2 tests
Recurrent Neisseria infections due to factor D deficiency2 tests
Reis-Bucklers' corneal dystrophy1 test
Renal carnitine transport defect4 tests
Renal cell carcinoma, Xp11-associated1 test
Renal coloboma syndrome2 tests
Renal cysts and diabetes syndrome2 tests
Renal dysplasia, cystic, susceptibility to2 tests
Renal hypodysplasia/aplasia 12 tests
Renal hypodysplasia/aplasia 22 tests
Renal hypomagnesemia 21 test
Renal hypomagnesemia 41 test
Renal hypomagnesemia 5 with ocular involvement1 test
Renal hypomagnesemia 61 test
Renal tubular acidosis with progressive nerve deafness1 test
Renal tubular dysgenesis9 tests
Renal-hepatic-pancreatic dysplasia 12 tests
Renal-hepatic-pancreatic dysplasia 22 tests
Renpenning syndrome2 tests
Resting heart rate2 tests
Reticular dysgenesis1 test
Reticulate acropigmentation of Kitamura1 test
Retinal arterial tortuosity1 test
Retinal cone dystrophy 3A2 tests
Retinal cone dystrophy 41 test
Retinal dystrophy and obesity1 test
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies2 tests
Retinal macular dystrophy type 21 test
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations4 tests
Retinitis pigmentosa 12 tests
Retinitis pigmentosa 102 tests
Retinitis pigmentosa 112 tests
Retinitis pigmentosa 122 tests
Retinitis pigmentosa 131 test
Retinitis pigmentosa 141 test
Retinitis pigmentosa 171 test
Retinitis pigmentosa 181 test
Retinitis pigmentosa 192 tests
Retinitis pigmentosa 22 tests
Retinitis pigmentosa 202 tests
Retinitis pigmentosa 231 test
Retinitis pigmentosa 252 tests
Retinitis pigmentosa 261 test
Retinitis pigmentosa 273 tests
Retinitis pigmentosa 281 test
Retinitis pigmentosa 32 tests
Retinitis pigmentosa 301 test
Retinitis pigmentosa 311 test
Retinitis pigmentosa 331 test
Retinitis pigmentosa 351 test
Retinitis pigmentosa 361 test
Retinitis pigmentosa 371 test
Retinitis pigmentosa 381 test
Retinitis pigmentosa 392 tests
Retinitis pigmentosa 42 tests
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 461 test
Retinitis pigmentosa 471 test
Retinitis pigmentosa 481 test
Retinitis pigmentosa 491 test
Retinitis pigmentosa 504 tests
Retinitis pigmentosa 511 test
Retinitis pigmentosa 541 test
Retinitis pigmentosa 551 test
Retinitis pigmentosa 561 test
Retinitis pigmentosa 571 test
Retinitis pigmentosa 581 test
Retinitis pigmentosa 591 test
Retinitis pigmentosa 601 test
Retinitis pigmentosa 611 test
Retinitis pigmentosa 621 test
Retinitis pigmentosa 661 test
Retinitis pigmentosa 671 test
Retinitis pigmentosa 681 test
Retinitis pigmentosa 691 test
Retinitis pigmentosa 75 tests
Retinitis pigmentosa 701 test
Retinitis pigmentosa 711 test
Retinitis pigmentosa 721 test
Retinitis pigmentosa 731 test
Retinitis pigmentosa 741 test
Retinitis pigmentosa 751 test
Retinitis pigmentosa 762 tests
Retinitis pigmentosa 771 test
Retinitis pigmentosa 91 test
Retinitis pigmentosa and erythrocytic microcytosis2 tests
Retinitis pigmentosa with or without situs inversus1 test
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness2 tests
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome1 test
Retinoblastoma2 tests
Rett syndrome12 tests
Rett syndrome, congenital variant2 tests
Revesz syndrome2 tests
Reynolds syndrome2 tests
RFT1-congenital disorder of glycosylation2 tests
Rh-null, regulator type1 test
Rhabdoid tumor predisposition syndrome 12 tests
Rhabdoid tumor predisposition syndrome 21 test
Rhabdomyosarcoma, embryonal, 21 test
Rheumatoid arthritis8 tests
Rhizomelic chondrodysplasia punctata type 12 tests
Rhizomelic chondrodysplasia punctata type 22 tests
Rhizomelic chondrodysplasia punctata type 32 tests
Rhizomelic chondrodysplasia punctata type 52 tests
Richieri Costa-Pereira syndrome2 tests
RIDDLE syndrome2 tests
Rienhoff syndrome2 tests
Right atrial isomerism2 tests
RIN2 syndrome2 tests
Ring dermoid of cornea2 tests
Rippling muscle disease 22 tests
Ritscher-Schinzel syndrome 12 tests
Ritscher-Schinzel syndrome 22 tests
Robinow-Sorauf syndrome5 tests
Roifman syndrome2 tests
Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked2 tests
Rothmund-Thomson syndrome type 22 tests
Rothmund-Thomson syndrome, type 32 tests
Rotor syndrome4 tests
Roussy-Lévy syndrome8 tests
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion2 tests
Rubinstein-Taybi syndrome due to CREBBP mutations4 tests
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency4 tests
Saccharopinuria1 test
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome2 tests
Sacral defect with anterior meningocele3 tests
Saethre-Chotzen syndrome10 tests
Saldino-Mainzer syndrome2 tests
Salla disease3 tests
Sandhoff disease2 tests
Sarcoidosis, susceptibility to, 21 test
Sarcosine dehydrogenase deficiency1 test
Sarcotubular myopathy1 test
Scalp-ear-nipple syndrome1 test
Scapuloperoneal spinal muscular atrophy1 test
Schaaf-Yang syndrome4 tests
SchC6pf-Schulz-Passarge syndrome2 tests
Schimke immuno-osseous dysplasia2 tests
Schinzel phocomelia syndrome2 tests
Schinzel-Giedion syndrome2 tests
Schizencephaly10 tests
Schizophrenia13 tests
Schizophrenia 151 test
Schizophrenia 181 test
Schizophrenia 41 test
Schizophrenia 61 test
Schizophrenia 91 test
Schneckenbecken dysplasia2 tests
Schnyder crystalline corneal dystrophy1 test
Schuurs-Hoeijmakers syndrome2 tests
Schwartz-Jampel syndrome2 tests
Sclerosteosis 11 test
Sclerosteosis 21 test
SCOTT SYNDROME2 tests
Sea-blue histiocyte syndrome1 test
Seborrhea-like dermatitis with psoriasiform elements1 test
Seborrheic keratosis1 test
Seckel syndrome 14 tests
Seckel syndrome 102 tests
Seckel syndrome 22 tests
Seckel syndrome 44 tests
Seckel syndrome 52 tests
Seckel syndrome 62 tests
Seckel syndrome 72 tests
Seckel syndrome 82 tests
Seckel syndrome 92 tests
Seizures, benign familial infantile, 21 test
Seizures, benign familial infantile, 31 test
Seizures, benign familial infantile, 51 test
Seizures, benign familial neonatal, 14 tests
Seizures, benign familial neonatal, 22 tests
Seizures-scoliosis-macrocephaly syndrome4 tests
Selective pituitary resistance to thyroid hormone1 test
Sengers syndrome2 tests
Senior-Loken syndrome 14 tests
Senior-Loken syndrome 41 test
Senior-Loken syndrome 52 tests
Senior-Loken syndrome 64 tests
Senior-Loken syndrome 72 tests
Senior-Loken syndrome 82 tests
Senior-Loken syndrome 92 tests
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis4 tests
Septo-optic dysplasia sequence8 tests
SERKAL syndrome6 tests
Sessile serrated polyposis cancer syndrome1 test
Severe combined immunodeficiency due to CARD11 deficiency2 tests
Severe combined immunodeficiency due to CORO1A deficiency2 tests
Severe combined immunodeficiency due to CTPS1 deficiency2 tests
Severe combined immunodeficiency due to DCLRE1C deficiency2 tests
Severe combined immunodeficiency due to DNA-PKcs deficiency2 tests
Severe combined immunodeficiency due to IKK2 deficiency2 tests
Severe combined immunodeficiency due to LCK deficiency2 tests
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency4 tests
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive4 tests
Severe congenital hypochromic anemia with ringed sideroblasts1 test
Severe dermatitis-multiple allergies-metabolic wasting syndrome1 test
Severe early-childhood-onset retinal dystrophy7 tests
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency1 test
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome2 tests
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome2 tests
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome2 tests
Severe intellectual disability-progressive spastic diplegia syndrome2 tests
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome2 tests
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome2 tests
Severe myoclonic epilepsy in infancy6 tests
Severe neonatal-onset encephalopathy with microcephaly4 tests
Severe neurodegenerative syndrome with lipodystrophy2 tests
Severe X-linked mitochondrial encephalomyopathy2 tests
Severe X-linked myotubular myopathy4 tests
Shashi-Pena syndrome3 tests
Short QT syndrome type 12 tests
Short QT syndrome type 21 test
Short QT syndrome type 32 tests
Short stature due to growth hormone qualitative anomaly2 tests
Short stature due to growth hormone secretagogue receptor deficiency1 test
Short stature due to partial GHR deficiency1 test
Short stature due to primary acid-labile subunit deficiency1 test
Short stature with nonspecific skeletal abnormalities2 tests
Short stature, microcephaly, and endocrine dysfunction2 tests
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome2 tests
Short stature-brachydactyly-obesity-global developmental delay syndrome2 tests
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome1 test
Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome1 test
Short stature-pituitary and cerebellar defects-small sella turcica syndrome2 tests
SHORT syndrome2 tests
Short-rib thoracic dysplasia 10 with or without polydactyly2 tests
Short-rib thoracic dysplasia 11 with or without polydactyly2 tests
Short-rib thoracic dysplasia 13 with or without polydactyly2 tests
Short-rib thoracic dysplasia 14 with polydactyly2 tests
Short-rib thoracic dysplasia 15 with polydactyly2 tests
Short-rib thoracic dysplasia 16 with or without polydactyly2 tests
Short-rib thoracic dysplasia 6 with or without polydactyly2 tests
Short-rib thoracic dysplasia 7 with or without polydactyly2 tests
Short-rib thoracic dysplasia 8 with or without polydactyly2 tests
SHOX-related short stature2 tests
Shprintzen-Goldberg syndrome2 tests
Shwachman-Diamond syndrome 12 tests
Sialic acid storage disease, severe infantile type1 test
Sialidosis type 25 tests
Sialuria2 tests
Sick sinus syndrome 12 tests
Sick sinus syndrome 2, autosomal dominant1 test
Sick sinus syndrome 3, susceptibility to1 test
Sideroblastic anemia 22 tests
Sideroblastic anemia 32 tests
Sifrim-Hitz-Weiss syndrome2 tests
Silver-Russell syndrome 16 tests
Silver-Russell syndrome 34 tests
Simpson-Golabi-Behmel syndrome type 14 tests
Simpson-Golabi-Behmel syndrome type 22 tests
SIN3A-related intellectual disability syndrome due to a point mutation2 tests
Singleton-Merten syndrome 12 tests
Singleton-Merten syndrome 22 tests
Sinoatrial node dysfunction and deafness1 test
Sjögren-Larsson syndrome2 tests
Skeletal defects, genital hypoplasia, and intellectual disability3 tests
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome1 test
Skin creases, congenital symmetric circumferential, 23 tests
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES4 tests
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN6 tests
SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR3 tests
SKIN/HAIR/EYE PIGMENTATION 6, BLOND/BROWN HAIR2 tests
SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN1 test
SKIN/HAIR/EYE PIGMENTATION 9, DARK/LIGHT HAIR2 tests
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 101 test
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 23 tests
Skin/hair/eye pigmentation, variation in, 42 tests
Skin/hair/eye pigmentation, variation in, 81 test
SLC35A1-congenital disorder of glycosylation2 tests
SLC35A2-congenital disorder of glycosylation2 tests
SLC39A8-CDG2 tests
Slow acetylator due to N-acetyltransferase enzyme variant1 test
Slow-Channel Congenital Myasthenia Syndrome2 tests
Small cell lung carcinoma1 test
SMARCB1-related schwannomatosis3 tests
Smith-Lemli-Opitz syndrome4 tests
Smith-Magenis syndrome2 tests
Smith-McCort dysplasia 12 tests
Smith-McCort dysplasia 22 tests
SMOKING AS A QUANTITATIVE TRAIT LOCUS 33 tests
Sneddon syndrome2 tests
Snowflake vitreoretinal degeneration1 test
Solitary median maxillary central incisor syndrome4 tests
Soluble interleukin-6 receptor, serum level of, quantitative trait locus1 test
Somatotroph adenoma2 tests
Sorsby fundus dystrophy1 test
Sotos syndrome4 tests
Southeast Asian ovalocytosis1 test
Spastic ataxia 11 test
Spastic ataxia 21 test
Spastic ataxia 31 test
Spastic ataxia 41 test
Spastic ataxia 51 test
Spastic paraplegia, intellectual disability, nystagmus, and obesity1 test
Spastic paraplegia, optic atropy, and neuropathy1 test
Spastic paraplegia-severe developmental delay-epilepsy syndrome2 tests
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome2 tests
Spasticity-ataxia-gait anomalies syndrome1 test
Specific granule deficiency 11 test
Specific language impairment 51 test
Spermatogenic failure 101 test
Spermatogenic failure 111 test
Spermatogenic failure 121 test
Spermatogenic failure 131 test
Spermatogenic failure 141 test
Spermatogenic failure 151 test
Spermatogenic failure 162 tests
Spermatogenic failure 171 test
Spermatogenic failure 31 test
Spermatogenic failure 42 tests
Spermatogenic failure 71 test
Spermatogenic failure 82 tests
Spermatogenic failure 91 test
Spermatogenic failure, X-linked, 21 test
Spermatogenic failure, Y-linked, 21 test
Sphingolipid activator protein 1 deficiency2 tests
Spinal muscular atrophy with congenital bone fractures 12 tests
Spinal muscular atrophy with congenital bone fractures 22 tests
Spinal muscular atrophy, type II4 tests
Spinal muscular atrophy, type IV4 tests
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome2 tests
Spinocerebellar ataxia 431 test
Spinocerebellar ataxia 71 test
Spinocerebellar ataxia type 11 test
Spinocerebellar ataxia type 101 test
Spinocerebellar ataxia type 111 test
Spinocerebellar ataxia type 121 test
Spinocerebellar ataxia type 131 test
Spinocerebellar ataxia type 141 test
Spinocerebellar ataxia type 15/161 test
Spinocerebellar ataxia type 171 test
Spinocerebellar ataxia type 19/221 test
Spinocerebellar ataxia type 22 tests
Spinocerebellar ataxia type 201 test
Spinocerebellar ataxia type 211 test
Spinocerebellar ataxia type 232 tests
Spinocerebellar ataxia type 261 test
Spinocerebellar ataxia type 271 test
Spinocerebellar ataxia type 281 test
Spinocerebellar ataxia type 291 test
Spinocerebellar ataxia type 341 test
Spinocerebellar ataxia type 351 test
Spinocerebellar ataxia type 361 test
Spinocerebellar ataxia type 381 test
Spinocerebellar ataxia type 401 test
Spinocerebellar ataxia type 411 test
Spinocerebellar ataxia type 421 test
Spinocerebellar ataxia type 51 test
Spinocerebellar ataxia type 62 tests
Spinocerebellar ataxia type 81 test
Spinocerebellar ataxia, autosomal recessive 221 test
Spinocerebellar ataxia, autosomal recessive 232 tests
Spinocerebellar ataxia, autosomal recessive 241 test
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 11 test
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 22 tests
Split hand-foot malformation 1 with sensorineural hearing loss2 tests
Split hand-foot malformation 32 tests
Split hand-foot malformation 42 tests
Split hand-foot malformation 62 tests
Split-foot malformation-mesoaxial polydactyly syndrome2 tests
Spondylo-megaepiphyseal-metaphyseal dysplasia2 tests
Spondylo-ocular syndrome2 tests
Spondylocarpotarsal synostosis syndrome4 tests
Spondylocostal dysostosis 1, autosomal recessive2 tests
Spondylocostal dysostosis 2, autosomal recessive2 tests
Spondylocostal dysostosis 3, autosomal recessive2 tests
Spondylocostal dysostosis 4, autosomal recessive2 tests
Spondylocostal dysostosis 52 tests
Spondylocostal dysostosis 6, autosomal recessive2 tests
Spondyloenchondrodysplasia with immune dysregulation2 tests
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures2 tests
Spondyloepimetaphyseal dysplasia with multiple dislocations2 tests
Spondyloepimetaphyseal dysplasia, aggrecan type2 tests
Spondyloepimetaphyseal dysplasia, Genevieve type2 tests
Spondyloepimetaphyseal dysplasia, Maroteaux type2 tests
Spondyloepimetaphyseal dysplasia, matrilin-3 type2 tests
Spondyloepimetaphyseal dysplasia, Missouri type4 tests
Spondyloepimetaphyseal dysplasia, PAPSS2 type1 test
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome2 tests
Spondyloepiphyseal dysplasia congenita6 tests
Spondyloepiphyseal dysplasia tarda2 tests
Spondyloepiphyseal dysplasia with congenital joint dislocations2 tests
Spondyloepiphyseal dysplasia with metatarsal shortening4 tests
Spondyloepiphyseal dysplasia, Kimberley type2 tests
Spondyloepiphyseal dysplasia, Stanescu type4 tests
Spondylometaphyseal dysplasia4 tests
Spondylometaphyseal dysplasia, Sedaghatian type2 tests
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome2 tests
Spondyloperipheral dysplasia4 tests
Spongiform encephalopathy with neuropsychiatric features2 tests
Spongy degeneration of central nervous system4 tests
Squamous cell carcinoma of the head and neck3 tests
SRD5A3-congenital disorder of glycosylation2 tests
SSR4-congenital disorder of glycosylation2 tests
Stapes ankylosis with broad thumbs and toes1 test
Stargardt disease 31 test
Stargardt disease 41 test
STAT3-related early-onset multisystem autoimmune disease1 test
Steatocystoma multiplex1 test
Steel syndrome2 tests
Steinert myotonic dystrophy syndrome1 test
Sterile multifocal osteomyelitis with periostitis and pustulosis2 tests
Sterol carrier protein 2 deficiency1 test
Stickler syndrome type 14 tests
Stickler syndrome type 24 tests
Stickler syndrome, type 42 tests
Stickler syndrome, type 52 tests
Stickler syndrome, type I, nonsyndromic ocular4 tests
Stiff skin syndrome4 tests
STING-associated vasculopathy with onset in infancy1 test
Stormorken syndrome2 tests
Striatal degeneration, autosomal dominant 22 tests
Striatonigral degeneration, childhood-onset3 tests
Stroke, susceptibility to, 11 test
Stromme syndrome2 tests
STT3A-congenital disorder of glycosylation2 tests
STT3B-congenital disorder of glycosylation2 tests
Sturge-Weber syndrome1 test
Stuttering, familial persistent, 11 test
Stuve-Wiedemann syndrome2 tests
Succinate-semialdehyde dehydrogenase deficiency2 tests
Succinyl-CoA acetoacetate transferase deficiency2 tests
Sucrase-isomaltase deficiency2 tests
SUDDEN INFANT DEATH SYNDROME4 tests
Sudden infant death-dysgenesis of the testes syndrome2 tests
Sulfite oxidase deficiency2 tests
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A2 tests
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B2 tests
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C2 tests
Supravalvar aortic stenosis1 test
Surfactant metabolism dysfunction, pulmonary, 12 tests
Surfactant metabolism dysfunction, pulmonary, 22 tests
Surfactant metabolism dysfunction, pulmonary, 42 tests
Surfactant metabolism dysfunction, pulmonary, 52 tests
Susceptibility to angioedema induced by ACE inhibitors1 test
Susceptibility to bulimia nervosa1 test
Susceptibility to HIV infection17 tests
Susceptibility to mononeuropathy of the median nerve, mild2 tests
Susceptibility to respiratory infections associated with CD8alpha chain mutation2 tests
Susceptibility to severe cutaneous adverse reaction7 tests
Symmetrical dyschromatosis of extremities1 test
Symphalangism, proximal, 1B1 test
Symphalangism-brachydactyly syndrome1 test
Syndactyly type 12 tests
Syndactyly type 41 test
Syndactyly type 52 tests
Syndactyly-telecanthus-anogenital and renal malformations syndrome2 tests
Syndromic microphthalmia type 52 tests
Syndromic multisystem autoimmune disease due to ITCH deficiency1 test
Syndromic X-linked intellectual disability 142 tests
Syndromic X-linked intellectual disability 342 tests
Syndromic X-linked intellectual disability 942 tests
Syndromic X-linked intellectual disability Claes-Jensen type2 tests
Syndromic X-linked intellectual disability Hedera type2 tests
Syndromic X-linked intellectual disability Lubs type5 tests
Syndromic X-linked intellectual disability Najm type4 tests
Syndromic X-linked intellectual disability Nascimento type2 tests
Syndromic X-linked intellectual disability Raymond type2 tests
Syndromic X-linked intellectual disability Siderius type2 tests
Syndromic X-linked intellectual disability Snyder type2 tests
Synovial sarcoma2 tests
Synpolydactyly type 12 tests
Synpolydactyly type 21 test
Systemic lupus erythematosus7 tests
Systemic lupus erythematosus, susceptibility to, 12 tests
Systemic lupus erythematosus, susceptibility to, 101 test
Systemic lupus erythematosus, susceptibility to, 21 test
Systemic lupus erythematosus, susceptibility to, 61 test
Systemic lupus erythematosus, susceptibility to, 91 test
Systemic-onset juvenile idiopathic arthritis2 tests
T-B+ severe combined immunodeficiency due to JAK3 deficiency2 tests
T-cell immunodeficiency, congenital alopecia, and nail dystrophy2 tests
Tall stature-scoliosis-macrodactyly of the great toes syndrome2 tests
Tangier disease1 test
TARP syndrome2 tests
Tarsal-carpal coalition syndrome1 test
Tatton-Brown-Rahman overgrowth syndrome2 tests
Tay-Sachs disease10 tests
Tay-Sachs disease, variant AB2 tests
TCF12-related craniosynostosis2 tests
TCR-alpha-beta-positive T-cell deficiency2 tests
Telangiectasia, hereditary hemorrhagic, type 12 tests
Telangiectasia, hereditary hemorrhagic, type 22 tests
Telangiectasia, hereditary hemorrhagic, type 51 test
TELO2-related intellectual disability-neurodevelopmental disorder3 tests
Temple-Baraitser syndrome2 tests
Temtamy preaxial brachydactyly syndrome1 test
Temtamy syndrome2 tests
Tenorio syndrome3 tests
Terminal osseous dysplasia-pigmentary defects syndrome2 tests
Testicular anomalies with or without congenital heart disease2 tests
Testosterone 17-beta-dehydrogenase deficiency2 tests
Tetraamelia syndrome 12 tests
Tetralogy of Fallot20 tests
TFRC-related combined immunodeficiency2 tests
Thanatophoric dysplasia type 12 tests
Thanatophoric dysplasia, type 22 tests
Thiel-Behnke corneal dystrophy1 test
Thiopurine S-methyltransferase deficiency2 tests
Thiopurines, poor metabolism of, 21 test
THIOUREA TASTING1 test
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome2 tests
Thrombocythemia 13 tests
Thrombocythemia 21 test
Thrombocythemia 31 test
Thrombocytopenia 12 tests
Thrombocytopenia 21 test
Thrombocytopenia 41 test
Thrombocytopenia 51 test
Thrombocytopenia 61 test
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia1 test
Thrombomodulin-related bleeding disorder1 test
Thrombophilia due to activated protein C resistance4 tests
Thrombophilia due to protein C deficiency, autosomal dominant2 tests
Thrombophilia due to protein C deficiency, autosomal recessive2 tests
Thrombophilia due to protein S deficiency, autosomal dominant2 tests
Thrombophilia due to protein S deficiency, autosomal recessive2 tests
Thrombophilia due to thrombin defect5 tests
Thrombophilia, familial, due to decreased release of tissue plasminogen activator2 tests
Thrombophilia, X-linked, due to factor 9 defect4 tests
Thromboxane synthetase deficiency1 test
Thyroglobulin synthesis defect1 test
Thyroid cancer, nonmedullary, 12 tests
Thyroid cancer, nonmedullary, 24 tests
Thyroid cancer, nonmedullary, 42 tests
Thyroid cancer, nonmedullary, 51 test
Thyroid dyshormonogenesis 11 test
Thyroid dyshormonogenesis 61 test
Thyroid hormone metabolism, abnormal 11 test
Thyroid hormone resistance, generalized, autosomal dominant1 test
Thyroid hormone resistance, generalized, autosomal recessive1 test
Thyrotoxic periodic paralysis, susceptibility to, 12 tests
Thyrotoxic periodic paralysis, susceptibility to, 21 test
Tibia, hypoplasia or aplasia of, with polydactyly2 tests
Tibial muscular dystrophy2 tests
Tietz syndrome2 tests
Timothy syndrome1 test
TMEM165-congenital disorder of glycosylation2 tests
TMEM199-CDG2 tests
TNF receptor-associated periodic fever syndrome (TRAPS)1 test
Tobacco addiction, susceptibility to7 tests
Tooth agenesis, selective, 11 test
Tooth agenesis, selective, 31 test
Tooth agenesis, selective, 41 test
Tooth agenesis, selective, 71 test
Tooth agenesis, selective, 81 test
Tooth agenesis, selective, 91 test
Tooth agenesis, selective, X-linked, 12 tests
Torsion dystonia 21 test
Torsion dystonia 41 test
Torsion dystonia 62 tests
Townes-Brocks syndrome 18 tests
Transcobalamin II deficiency2 tests
TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 22 tests
Transient infantile hypertriglyceridemia and hepatosteatosis1 test
Transketolase deficiency3 tests
Transposition of the great arteries, dextro-looped2 tests
Treacher Collins syndrome 14 tests
Treacher Collins syndrome 22 tests
Treacher Collins syndrome 32 tests
Tremor, hereditary essential, 11 test
Tremor, hereditary essential, 41 test
Tremor, hereditary essential, 52 tests
Tricho-dento-osseous syndrome2 tests
Trichohepatoenteric syndrome 11 test
Trichohepatoenteric syndrome 21 test
Trichomegaly1 test
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome2 tests
Trichorhinophalangeal dysplasia type I4 tests
Trichorhinophalangeal syndrome, type III4 tests
Trichothiodystrophy 1, photosensitive1 test
Trichothiodystrophy 2, photosensitive1 test
Trichothiodystrophy 3, photosensitive1 test
Trichothiodystrophy 4, nonphotosensitive1 test
Trichothiodystrophy 5, nonphotosensitive1 test
Trichothiodystrophy 6, nonphotosensitive1 test
Trichotillomania1 test
Triglyceride storage disease with ichthyosis2 tests
Trigonocephaly 14 tests
Trigonocephaly 22 tests
Triosephosphate isomerase deficiency2 tests
Tropical pancreatitis4 tests
Troyer syndrome1 test
Trypsinogen deficiency2 tests
Tuberous sclerosis 14 tests
Tuberous sclerosis 25 tests
Tubulointerstitial kidney disease, autosomal dominant, 22 tests
Tumor predisposition syndrome 32 tests
Tumoral calcinosis, hyperphosphatemic, familial, 15 tests
TWIST1-related craniosynostosis4 tests
Type 1 diabetes mellitus 101 test
Type 1 diabetes mellitus 121 test
Type 1 diabetes mellitus 21 test
Type 1 diabetes mellitus 202 tests
Type 1 diabetes mellitus 51 test
Type 2 diabetes mellitus37 tests
Type A2 brachydactyly3 tests
Type I complement component 8 deficiency2 tests
Type II complement component 8 deficiency2 tests
Tyrosinase-positive oculocutaneous albinism3 tests
Tyrosinemia type I2 tests
Tyrosinemia type II2 tests
Tyrosinemia type III2 tests
UDPglucose-4-epimerase deficiency2 tests
Ullrich congenital muscular dystrophy 1A4 tests
Ullrich congenital muscular dystrophy 23 tests
Ulnar-mammary syndrome2 tests
Unverricht-Lundborg syndrome2 tests
Upshaw-Schulman syndrome1 test
URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 11 test
Uric acid concentration, serum, quantitative trait locus 42 tests
Urocanate hydratase deficiency2 tests
Urofacial syndrome 22 tests
Urofacial syndrome type 12 tests
Usher syndrome type 11 test
Usher syndrome type 1C1 test
Usher syndrome type 1D4 tests
Usher syndrome type 1F2 tests
Usher syndrome type 1G1 test
Usher syndrome type 1J1 test
Usher syndrome type 2A3 tests
Usher syndrome type 2C3 tests
Usher syndrome type 2D1 test
Usher syndrome type 31 test
Usher syndrome type 3B1 test
Uterine leiomyoma1 test
UV-sensitive syndrome 11 test
UV-sensitive syndrome 21 test
UV-sensitive syndrome 31 test
Uveal coloboma-cleft lip and palate-intellectual disability3 tests
VACTERL association, X-linked, with or without hydrocephalus4 tests
VACTERL with hydrocephalus6 tests
Van Buchem disease type 22 tests
Van den Ende-Gupta syndrome2 tests
Van der Woude syndrome 14 tests
Van der Woude syndrome 22 tests
Van Maldergem syndrome 12 tests
Van Maldergem syndrome 21 test
Vanishing white matter disease12 tests
Variegate porphyria8 tests
Vas deferens, congenital bilateral aplasia of, X-linked1 test
Vasculitis due to ADA2 deficiency1 test
Velocardiofacial syndrome4 tests
Ventricular fibrillation, paroxysmal familial, 21 test
Ventricular septal defect 14 tests
Ventricular septal defect 22 tests
Ventricular septal defect 34 tests
Ventriculomegaly-cystic kidney disease2 tests
Very long chain acyl-CoA dehydrogenase deficiency4 tests
Vesicoureteral reflux 21 test
Vesicoureteral reflux 31 test
Vesicoureteral reflux 82 tests
Vici syndrome2 tests
Visceral myopathy 11 test
VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 13 tests
Vitamin D hydroxylation-deficient rickets, type 1B1 test
Vitamin D-dependent rickets type II with alopecia1 test
Vitamin D-dependent rickets, type 12 tests
Vitamin K-dependent clotting factors, combined deficiency of, type 11 test
Vitamin K-dependent clotting factors, combined deficiency of, type 21 test
Vitelliform macular dystrophy 22 tests
Vitelliform macular dystrophy 41 test
Vitelliform macular dystrophy 51 test
Vitiligo-associated multiple autoimmune disease susceptibility 11 test
Von Hippel-Lindau syndrome3 tests
von Willebrand disease type 12 tests
von Willebrand disease type 22 tests
von Willebrand disease type 32 tests
Waardenburg syndrome type 14 tests
Waardenburg syndrome type 2A4 tests
Waardenburg syndrome type 2D4 tests
Waardenburg syndrome type 2E2 tests
Waardenburg syndrome type 34 tests
Waardenburg syndrome type 4A4 tests
Waardenburg syndrome type 4B4 tests
Waardenburg syndrome type 4C2 tests
Wagner syndrome2 tests
Warburg micro syndrome 12 tests
Warburg micro syndrome 22 tests
Warburg micro syndrome 32 tests
Warburg micro syndrome 42 tests
Warfarin response11 tests
Warsaw breakage syndrome2 tests
Warts, hypogammaglobulinemia, infections, and myelokathexis6 tests
Weaver syndrome2 tests
Webb-Dattani syndrome2 tests
Weill-Marchesani 4 syndrome, recessive2 tests
Weill-Marchesani syndrome 12 tests
Weill-Marchesani syndrome 2, dominant4 tests
Weill-Marchesani syndrome 32 tests
Welander distal myopathy2 tests
Werdnig-Hoffmann disease4 tests
Werner syndrome2 tests
West Nile virus, susceptibility to2 tests
White sponge nevus 11 test
White sponge nevus 21 test
Wieacker-Wolff syndrome2 tests
Wiedemann-Steiner syndrome4 tests
Williams syndrome4 tests
Wilms tumor 13 tests
Wilms tumor 22 tests
Wilms tumor 51 test
Wilms tumor 62 tests
Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome2 tests
Wilson disease2 tests
Wilson-Turner syndrome1 test
Wiskott-Aldrich syndrome2 tests
Wiskott-Aldrich syndrome 22 tests
Wolcott-Rallison dysplasia2 tests
Wolff-Parkinson-White pattern1 test
Wolfram syndrome 12 tests
Wolfram syndrome 21 test
Wolfram-like syndrome2 tests
Woodhouse-Sakati syndrome2 tests
Woolly hair-skin fragility syndrome4 tests
Wooly hair-palmoplantar keratoderma syndrome1 test
Worth disease6 tests
Wrinkly skin syndrome1 test
X inactivation, familial skewed, 11 test
X-linked acrogigantism due to Xq26 microduplication2 tests
X-linked agammaglobulinemia2 tests
X-linked agammaglobulinemia with growth hormone deficiency6 tests
X-linked Alport syndrome4 tests
X-linked central congenital hypothyroidism with late-onset testicular enlargement1 test
X-linked chondrodysplasia punctata 12 tests
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome1 test
X-linked complicated corpus callosum dysgenesis2 tests
X-linked cone-rod dystrophy 12 tests
X-linked cone-rod dystrophy 31 test
X-linked distal spinal muscular atrophy type 34 tests
X-linked dominant chondrodysplasia, Chassaing-Lacombe type2 tests
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia2 tests
X-linked dystonia-parkinsonism1 test
X-linked Emery-Dreifuss muscular dystrophy1 test
X-linked erythropoietic protoporphyria2 tests
X-linked hydrocephalus syndrome6 tests
X-linked ichthyosis with steryl-sulfatase deficiency4 tests
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia2 tests
X-linked intellectual disability Cabezas type2 tests
X-linked intellectual disability with marfanoid habitus3 tests
X-linked intellectual disability, Cantagrel type2 tests
X-linked intellectual disability, Stocco dos Santos type2 tests
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome2 tests
X-linked intellectual disability-cerebellar hypoplasia syndrome2 tests
X-linked intellectual disability-psychosis-macroorchidism syndrome4 tests
X-linked intellectual disability-retinitis pigmentosa syndrome2 tests
X-linked intellectual disability-short stature-overweight syndrome2 tests
X-linked lissencephaly with abnormal genitalia8 tests
X-linked lymphoproliferative disease due to SH2D1A deficiency2 tests
X-linked lymphoproliferative disease due to XIAP deficiency2 tests
X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency2 tests
X-linked mixed hearing loss with perilymphatic gusher1 test
X-linked myopathy with excessive autophagy2 tests
X-linked myopathy with postural muscle atrophy3 tests
X-linked Opitz G/BBB syndrome4 tests
X-linked parkinsonism-spasticity syndrome1 test
X-linked progressive cerebellar ataxia1 test
X-linked recessive nephrolithiasis with renal failure1 test
X-linked reticulate pigmentary disorder1 test
X-linked scapuloperoneal muscular dystrophy1 test
X-linked severe combined immunodeficiency2 tests
X-linked severe congenital neutropenia2 tests
X-linked sideroblastic anemia 12 tests
X-linked sideroblastic anemia with ataxia2 tests
X-linked spondyloepimetaphyseal dysplasia2 tests
Xanthinuria type II2 tests
Xeroderma pigmentosum group A2 tests
Xeroderma pigmentosum group B2 tests
Xeroderma pigmentosum variant type2 tests
Xeroderma pigmentosum, group C2 tests
Xeroderma pigmentosum, group D2 tests
Xeroderma pigmentosum, group E2 tests
Xeroderma pigmentosum, group F4 tests
Xeroderma pigmentosum, group G4 tests
XFE progeroid syndrome2 tests
Xq27.3q28 duplication syndrome2 tests
Yao syndrome2 tests
Yunis-Varon syndrome2 tests
Zimmermann-Laband syndrome 12 tests
Zimmermann-Laband syndrome 22 tests
Zinc deficiency, transient neonatal1 test
ZTTK syndrome3 tests

List of services

Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Balanced Chromosome Rearrangement Studies
Custom Deletion/Duplication Testing
Prenatal testing
Carrier testing
Genetic counseling
Identity Testing
Marker Chromosome Identification
Maternal cell contamination study (MCC)
Mutation Confirmation
Preimplantation Genetic Diagnosis (PGD)
Result interpretation
Uniparental Disomy (UPD) Testing
Whole Exome Sequencing
Whole Genome Sequencing
Cytogenetic testing
RNASeq -Transcriptome
Rare disease clinical evaluation
Rare disease custom testing

List of certifications/licenses

Certifications

CEQAS, Number: 0595
EMQN, Number: 0595
ISO15189, Number: AB-0061-TL, Expiration date: 2025-09-01
Turkish Ministry of Heath Cytogenetics License, Number: 11379, Expiration date: 2030-03-18
Turkish Ministry of Heath Molecular Genetics License, Number: 11379, Expiration date: 2030-03-18

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.