Al Jalila Children's Genomics Center (Al Jalila Childrens Speciality Hospital)

General information

Al Jalila Children's Genomics Center
Al Jalila Childrens Speciality Hospital
United Arab Emirates - 0000
Organization ID: 507199


View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 25


GeneSubmissionsLast Updated
C4B1Nov 16, 2020
CCN61Nov 16, 2020
CD361Nov 16, 2020
EHMT11Nov 16, 2020
EXOSC91Sep 17, 2020
GNAS1Nov 16, 2020
IFIH13Nov 16, 2020
IKBKE1Nov 23, 2020
MEFV8Nov 16, 2020
NLRP121Nov 16, 2020
PIEZO11Nov 16, 2020
PRG42Nov 16, 2020
TNFAIP31Nov 16, 2020
TNFRSF1A1Nov 16, 2020
UGT1A1Nov 16, 2020
UGT1A11Nov 16, 2020
UGT1A101Nov 16, 2020
UGT1A31Nov 16, 2020
UGT1A41Nov 16, 2020
UGT1A51Nov 16, 2020
UGT1A61Nov 16, 2020
UGT1A71Nov 16, 2020
UGT1A81Nov 16, 2020
UGT1A91Nov 16, 2020

Testing in GTR

Disease nameNumber of tests
ABCD syndrome1 test
Abdominal obesity-metabolic syndrome 31 test
Abetalipoproteinaemia1 test
Achondrogenesis type II1 test
Achondroplasia2 tests
Acquired hemoglobin H disease1 test
Acrodysostosis 1 with or without hormone resistance1 test
Acrodysostosis 2, with or without hormone resistance1 test
Acrofacial dysostosis, Cincinnati type1 test
Acromelic frontonasal dysostosis1 test
Acromesomelic dysplasia, Demirhan type1 test
Adams-Oliver syndrome 51 test
Adrenoleukodystrophy1 test
Adult hypophosphatasia1 test
Afibrinogenemia1 test
Agammaglobulinemia 7, autosomal recessive1 test
Age-related macular degeneration 11 test
Age-related macular degeneration 131 test
Age-related macular degeneration 141 test
Aicardi Goutieres syndrome 21 test
Aicardi Goutieres syndrome 31 test
Aicardi Goutieres syndrome 41 test
Aicardi Goutieres syndrome 51 test
Aicardi-Goutieres syndrome 61 test
Aicardi-Goutieres syndrome 71 test
Alagille syndrome 12 tests
Alagille syndrome 24 tests
Alpha-1-antitrypsin deficiency1 test
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity1 test
Alport syndrome 1, X-linked recessive2 tests
Alstrom syndrome1 test
Alveolar capillary dysplasia with pulmonary venous misalignment3 tests
Angelman syndrome2 tests
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis2 tests
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis2 tests
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 21 test
Arginine:glycine amidinotransferase deficiency1 test
Arterial tortuosity syndrome1 test
Arthrogryposis, renal dysfunction, and cholestasis 11 test
Arthrogryposis, renal dysfunction, and cholestasis 21 test
Ataxia-oculomotor apraxia 41 test
Ataxia-telangiectasia syndrome1 test
Atrial fibrillation, familial, 72 tests
Atypical hemolytic uremic syndrome2 tests
Atypical hemolytic-uremic syndrome 12 tests
Atypical hemolytic-uremic syndrome 22 tests
Atypical hemolytic-uremic syndrome 51 test
Atypical hemolytic-uremic syndrome 61 test
Auriculocondylar syndrome 11 test
Auriculocondylar syndrome 21 test
Auriculocondylar syndrome 31 test
Autism spectrum disorder1 test
Autoimmune disease, multisystem, infantile-onset, 11 test
Autoimmune interstitial lung, joint, and kidney disease3 tests
Autoimmune lymphoproliferative syndrome type V1 test
Autoimmune lymphoproliferative syndrome, type III1 test
Autoinflammation with infantile enterocolitis1 test
Autoinflammation, panniculitis, and dermatosis syndrome1 test
Autoinflammatory syndrome, familial, Behcet-like2 tests
Autosomal dominant osteopetrosis 21 test
Autosomal recessive cutis laxa type 1B1 test
Autosomal recessive cutis laxa type IA1 test
Autosomal recessive osteopetrosis 11 test
Autosomal recessive osteopetrosis 21 test
Autosomal recessive osteopetrosis 61 test
Bainbridge-Ropers syndrome1 test
Baller-Gerold syndrome2 tests
Bardet-Biedl syndrome 11 test
Bardet-Biedl syndrome 101 test
Bardet-Biedl syndrome 121 test
Bardet-Biedl syndrome 131 test
Bardet-Biedl syndrome 141 test
Bardet-Biedl syndrome 151 test
Bardet-Biedl syndrome 161 test
Bardet-Biedl syndrome 21 test
Bardet-Biedl syndrome 201 test
Bardet-Biedl syndrome 41 test
Bardet-Biedl syndrome 51 test
Bardet-Biedl syndrome 71 test
Bardet-Biedl syndrome 91 test
Basal cell carcinoma, susceptibility to, 11 test
Basal laminar drusen1 test
Benign familial hematuria1 test
Benign hereditary chorea1 test
Benign recurrent intrahepatic cholestasis type 21 test
Biotinidase deficiency1 test
Body mass index quantitative trait locus 41 test
Body mass index quantitative trait locus 91 test
Bohring-Opitz syndrome1 test
Bone fragility with contractures, arterial rupture, and deafness1 test
Borjeson-Forssman-Lehmann syndrome1 test
Brachydactyly, type a1, d1 test
Branchiootic syndrome 32 tests
Branchiootorenal syndrome 22 tests
C syndrome2 tests
C1q deficiency1 test
C4a deficiency1 test
CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy1 test
CFHR5 deficiency1 test
CHARGE association3 tests
Capillary malformation-arteriovenous malformation 11 test
Carcinoma of pancreas1 test
Cardiofaciocutaneous syndrome 31 test
Cardiomyopathy, dilated, 1NN1 test
Carotid intimal medial thickness 11 test
Carpenter syndrome 12 tests
Carpenter syndrome 22 tests
Cerebral arteriovenous malformation1 test
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 11 test
Cerebral folate transport deficiency1 test
Cerebro-costo-mandibular syndrome1 test
Chitayat syndrome2 tests
Cholestasis, benign recurrent intrahepatic 11 test
Cholestasis, intrahepatic, of pregnancy 31 test
Cholestasis, progressive familial intrahepatic, 51 test
Chops syndrome2 tests
Choreoathetosis, hypothyroidism, and neonatal respiratory distress1 test
Christianson syndrome1 test
Chronic granulomatous disease, X-linked1 test
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 11 test
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 21 test
Chylomicron retention disease1 test
Ciliary dyskinesia, primary, 102 tests
Ciliary dyskinesia, primary, 112 tests
Ciliary dyskinesia, primary, 122 tests
Ciliary dyskinesia, primary, 132 tests
Ciliary dyskinesia, primary, 142 tests
Ciliary dyskinesia, primary, 152 tests
Ciliary dyskinesia, primary, 162 tests
Ciliary dyskinesia, primary, 172 tests
Ciliary dyskinesia, primary, 182 tests
Ciliary dyskinesia, primary, 192 tests
Ciliary dyskinesia, primary, 22 tests
Ciliary dyskinesia, primary, 202 tests
Ciliary dyskinesia, primary, 212 tests
Ciliary dyskinesia, primary, 222 tests
Ciliary dyskinesia, primary, 262 tests
Ciliary dyskinesia, primary, 272 tests
Ciliary dyskinesia, primary, 282 tests
Ciliary dyskinesia, primary, 292 tests
Ciliary dyskinesia, primary, 32 tests
Ciliary dyskinesia, primary, 302 tests
Ciliary dyskinesia, primary, 322 tests
Ciliary dyskinesia, primary, 332 tests
Ciliary dyskinesia, primary, 372 tests
Ciliary dyskinesia, primary, 52 tests
Ciliary dyskinesia, primary, 62 tests
Ciliary dyskinesia, primary, 72 tests
Ciliary dyskinesia, primary, 92 tests
Citrullinemia type II1 test
Classic homocystinuria1 test
Cleidocranial dysostosis2 tests
Cohen syndrome1 test
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness1 test
Combined cellular and humoral immune defects with granulomas1 test
Combined immunodeficiency, X-linked1 test
Common variable immunodeficiency 11 test
Common variable immunodeficiency 101 test
Common variable immunodeficiency 111 test
Common variable immunodeficiency 71 test
Common variable immunodeficiency 8, with autoimmunity1 test
Complement component 3 deficiency, autosomal recessive1 test
Complement component 4b deficiency1 test
Complement component 6 deficiency1 test
Complement component 7 deficiency1 test
Complement component 9 deficiency1 test
Complement component c1s deficiency1 test
Complement factor B deficiency1 test
Complement factor d deficiency1 test
Cone-rod dystrophy, X-linked 11 test
Congenital bilateral aplasia of vas deferens from CFTR mutation3 tests
Congenital bile acid synthesis defect 11 test
Congenital bile acid synthesis defect 21 test
Congenital central hypoventilation1 test
Congenital chromosomal disease1 test
Congenital contractural arachnodactyly1 test
Congenital disorder of glycosylation type 1t1 test
Congenital disorder of glycosylation, type Ia1 test
Congenital glucose-galactose malabsorption1 test
Congenital heart defects, multiple types, 51 test
Congenital lactase deficiency1 test
Congenital microvillous atrophy2 tests
Congenital muscular hypertrophy-cerebral syndrome1 test
Congenital secretory diarrhea, chloride type1 test
Congenital secretory diarrhea, sodium type1 test
Conotruncal heart malformations1 test
Corneal dystrophy, Fuchs endothelial, 31 test
Cornelia de Lange syndrome 11 test
Cornelia de Lange syndrome 31 test
Cornelia de Lange syndrome 51 test
Cranioectodermal dysplasia 12 tests
Cranioectodermal dysplasia 22 tests
Cranioectodermal dysplasia 32 tests
Cranioectodermal dysplasia 41 test
Craniofacial-deafness-hand syndrome1 test
Craniofrontonasal syndrome2 tests
Craniosynostosis 12 tests
Craniosynostosis 22 tests
Craniosynostosis 32 tests
Craniosynostosis 62 tests
Creatine transporter deficiency1 test
Curry-Hall syndrome1 test
Cushing syndrome1 test
Cyclical neutropenia1 test
Cystic fibrosis3 tests
Deafness, autosomal dominant 131 test
Deafness, autosomal dominant 34, with or without inflammation1 test
Deafness, autosomal recessive 1A1 test
Deafness, congenital heart defects, and posterior embryotoxon2 tests
Deficiency of 3-hydroxyacyl-CoA dehydrogenase2 tests
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
Deficiency of acetyl-CoA acetyltransferase2 tests
Deficiency of galactokinase1 test
Deficiency of guanidinoacetate methyltransferase1 test
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency1 test
Dermatofibrosis lenticularis disseminata1 test
Developmental and epileptic encephalopathy, 581 test
Diabetes mellitus, insulin-dependent, 21 test
Diabetes mellitus, insulin-dependent, 203 tests
Diarrhea 4, malabsorptive, congenital1 test
Diarrhea 71 test
Diarrhea 8, secretory sodium, congenital1 test
Dubin-Johnson syndrome1 test
Dyskeratosis congenita, X-linked2 tests
Dyskeratosis congenita, autosomal dominant 11 test
Dystonia 91 test
Early infantile epileptic encephalopathy 111 test
Early infantile epileptic encephalopathy 21 test
Early infantile epileptic encephalopathy 71 test
Early infantile epileptic encephalopathy 91 test
Ectodermal dysplasia and immunodeficiency 12 tests
Eculizumab, poor response to1 test
Ehlers-Danlos syndrome1 test
Ehlers-Danlos syndrome classic type 21 test
Ehlers-Danlos syndrome, cardiac valvular type1 test
Ehlers-Danlos syndrome, hydroxylysine-deficient1 test
Ehlers-Danlos syndrome, periodontal type, 11 test
Ehlers-Danlos syndrome, type 42 tests
Ellis-van Creveld syndrome1 test
Encephalocraniocutaneous lipomatosis2 tests
Epilepsy2 tests
Epilepsy, focal, with speech disorder and with or without mental retardation1 test
Epilepsy, nocturnal frontal lobe, 51 test
Epileptic encephalopathy, early infantile, 11 test
Epileptic encephalopathy, early infantile, 261 test
Epileptic encephalopathy, early infantile, 271 test
Epileptic encephalopathy, early infantile, 461 test
Erythrocyte lactate transporter defect3 tests
Exudative vitreoretinopathy 41 test
FG syndrome 21 test
Familial Mediterranean fever2 tests
Familial cold autoinflammatory syndrome 11 test
Familial cold autoinflammatory syndrome 22 tests
Familial cold autoinflammatory syndrome 31 test
Familial expansile osteolysis1 test
Familial hypercholesterolemia 21 test
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young2 tests
Fanconi-Bickel syndrome1 test
Feingold syndrome 11 test
Fibrochondrogenesis 11 test
Fibrous dysplasia of jaw1 test
Fragile X syndrome1 test
Frontonasal dysplasia 11 test
Frontonasal dysplasia 21 test
Frontonasal dysplasia 31 test
Fructose-biphosphatase deficiency1 test
Galactosemia1 test
Generalized epilepsy with febrile seizures plus, type 21 test
Gingival fibromatosis 11 test
Global developmental delay1 test
Glucose-6-phosphate transport defect1 test
Glycogen storage disease IXb2 tests
Glycogen storage disease IXc2 tests
Glycogen storage disease IXd1 test
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA2 tests
Glycogen storage disease due to hepatic glycogen synthase deficiency2 tests
Glycogen storage disease type III2 tests
Glycogen storage disease type IXa12 tests
Glycogen storage disease, type II1 test
Glycogen storage disease, type IV1 test
Glycogen storage disease, type VI2 tests
Glycogen storage disease, type VII1 test
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative1 test
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III1 test
Greig cephalopolysyndactyly syndrome1 test
Hereditary angioedema type 11 test
Hereditary disease2 tests
Hereditary hemorrhagic telangiectasia type 12 tests
Hereditary nonpolyposis colorectal cancer type 81 test
Hereditary pancreatitis1 test
Histiocytic medullary reticulosis1 test
Histiocytosis-lymphadenopathy plus syndrome1 test
Hyper-IgM syndrome type 11 test
Hyper-IgM syndrome type 21 test
Hyper-IgM syndrome type 51 test
Hypercholanemia, familial1 test
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive1 test
Hyperinsulinism-hyperammonemia syndrome2 tests
IL21R immunodeficiency1 test
Immunodeficiency 141 test
Immunodeficiency 26 with or without neurologic abnormalities1 test
Immunodeficiency 31a1 test
Immunodeficiency due to ficolin 3 deficiency1 test
Immunodeficiency, common variable, 121 test
Immunodeficiency, common variable, 131 test
Infantile nephronophthisis2 tests
Inflammatory bowel disease 11 test
Inflammatory skin and bowel disease, neonatal 11 test
Insulin-resistant diabetes mellitus AND acanthosis nigricans1 test
Interstitial lung and liver disease2 tests
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked1 test
Ischemic stroke, susceptibility to1 test
Joubert syndrome 101 test
Juvenile myelomonocytic leukemia1 test
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome1 test
KBG syndrome1 test
Kabuki syndrome 11 test
Kabuki syndrome 21 test
Kartagener syndrome2 tests
Kleefstra syndrome 11 test
LEOPARD syndrome 11 test
Lafora disease1 test
Langer mesomelic dysplasia syndrome1 test
Legius syndrome1 test
Leptin deficiency or dysfunction1 test
Leptin receptor deficiency1 test
Lethal osteosclerotic bone dysplasia1 test
Leukocyte adhesion deficiency, type III1 test
Leukodystrophy, hypomyelinating, 111 test
Lig4 syndrome1 test
Lipodystrophy, congenital generalized, type 31 test
Loeys-Dietz syndrome 12 tests
Loeys-Dietz syndrome 21 test
Loeys-Dietz syndrome 31 test
Loeys-Dietz syndrome 41 test
Loeys-Dietz syndrome 51 test
Lung carcinoma1 test
Luscan-lumish syndrome1 test
Lymphedema, primary, with myelodysplasia2 tests
Lymphoproliferative syndrome 1, X-linked1 test
Lymphoproliferative syndrome 21 test
Lymphoproliferative syndrome 2, X-linked1 test
Lysinuric protein intolerance2 tests
Lysosomal acid lipase deficiency1 test
MASP2 deficiency1 test
Majeed syndrome2 tests
Malignant tumor of esophagus1 test
Mandibulofacial dysostosis-microcephaly syndrome1 test
Maple syrup urine disease1 test
Marfan lipodystrophy syndrome1 test
Marfan syndrome2 tests
Marshall syndrome1 test
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 11 test
Maturity-onset diabetes of the young, type 111 test
Maturity-onset diabetes of the young, type 141 test
Meconium ileus1 test
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance1 test
Mental retardation, autosomal dominant 11 test
Mental retardation, autosomal dominant 71 test
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations1 test
Mevalonic aciduria2 tests
Microvascular complications of diabetes 41 test
Miller syndrome1 test
Mitchell-Riley syndrome1 test
Mowat-Wilson syndrome1 test
Multiple congenital anomalies1 test
Multiple epiphyseal dysplasia 61 test
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects1 test
Multiple sclerosis, susceptibility to, 52 tests
Mungan syndrome1 test
Myhre syndrome1 test
Myoclonus, familial, 21 test
Nager syndrome1 test
Neonatal ichthyosis-sclerosing cholangitis syndrome1 test
Neonatal severe hyperparathyroidism1 test
Nephrotic syndrome, type 71 test
Niemann-Pick disease type C11 test
Niemann-Pick disease, type C21 test
Noonan syndrome1 test
Noonan syndrome 101 test
Noonan syndrome 111 test
Noonan syndrome 81 test
Noonan syndrome 91 test
Noonan syndrome-like disorder with loose anagen hair 11 test
Noonan syndrome-like disorder with loose anagen hair 21 test
Obesity1 test
Oculomaxillofacial dysostosis2 tests
Osteogenesis imperfecta1 test
Osteogenesis imperfecta type I1 test
Osteogenesis imperfecta with normal sclerae, dominant form1 test
Osteopathia striata with cranial sclerosis1 test
Osteopetrosis with renal tubular acidosis1 test
Osteopetrosis, autosomal recessive 51 test
Osteopetrosis, autosomal recessive 81 test
Otitis media, susceptibility to1 test
Oto-palato-digital syndrome, type I1 test
Otofaciocervical syndrome 12 tests
Palmoplantar carcinoma, multiple self-healing1 test
Pancreatic lipase deficiency1 test
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome1 test
Periventricular nodular heterotopia 11 test
Phenylketonuria1 test
Phosphate transport defect1 test
Phosphoenolpyruvate carboxykinase deficiency, cytosolic1 test
Pigmentary disorder, reticulate, with systemic manifestations, X-linked1 test
Pitt-Hopkins-like syndrome 11 test
Pitt-Hopkins-like syndrome 21 test
Pneumothorax, primary spontaneous1 test
Polyarteritis nodosa, childhoood-onset3 tests
Primary ciliary dyskinesia2 tests
Primary ciliary dyskinesia 232 tests
Primary ciliary dyskinesia 242 tests
Primary ciliary dyskinesia 252 tests
Primary pulmonary hypertension 12 tests
Primary pulmonary hypertension 22 tests
Primary pulmonary hypertension 42 tests
Progressive familial intrahepatic cholestasis 41 test
Progressive sclerosing poliodystrophy1 test
Proopiomelanocortin deficiency1 test
Properdin deficiency, X-linked1 test
Proprotein convertase 1/3 deficiency2 tests
Proteasome-associated autoinflammatory syndrome 12 tests
Pseudo-TORCH syndrome 21 test
Psoriasis 15, pustular, susceptibility to1 test
Psoriasis susceptibility 21 test
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 21 test
Pulmonary venoocclusive disease 2, autosomal recessive2 tests
Purine-nucleoside phosphorylase deficiency1 test
Pustular psoriasis, generalized1 test
Pyknodysostosis1 test
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome2 tests
Pyridoxal phosphate-responsive seizures1 test
Pyridoxine-dependent epilepsy1 test
RAS-associated autoimmune leukoproliferative disorder1 test
Retinitis pigmentosa 151 test
Retinitis pigmentosa 231 test
Retinitis pigmentosa 511 test
Retinitis pigmentosa 551 test
Retinitis pigmentosa 711 test
Retinitis pigmentosa and erythrocytic microcytosis1 test
Rett syndrome, congenital variant1 test
Rubinstein-Taybi syndrome 11 test
Rubinstein-Taybi syndrome 21 test
Sarcotubular myopathy1 test
Schaaf-Yang syndrome1 test
Schuurs-hoeijmakers syndrome1 test
Severe combined immunodeficiency disease1 test
Severe combined immunodeficiency due to ADA deficiency1 test
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation1 test
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative1 test
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive1 test
Severe neonatal-onset encephalopathy with microcephaly1 test
Short stature, brachydactyly, intellectual developmental disability, and seizures1 test
Shprintzen-Goldberg syndrome3 tests
Spastic paraplegia, intellectual disability, nystagmus, and obesity1 test
Spinal muscular atrophy1 test
Spondyloenchondrodysplasia with immune dysregulation1 test
Stickler syndrome1 test
Sting-associated vasculopathy, infantile-onset1 test
Sucrase-isomaltase deficiency1 test
Supravalvar aortic stenosis1 test
Surfactant metabolism dysfunction, pulmonary, 12 tests
Surfactant metabolism dysfunction, pulmonary, 22 tests
Surfactant metabolism dysfunction, pulmonary, 32 tests
Surfactant metabolism dysfunction, pulmonary, 42 tests
Surfactant metabolism dysfunction, pulmonary, 52 tests
Syndromic X-linked mental retardation, Cabezas type1 test
Systemic lupus erythematosus2 tests
T-cell immunodeficiency, congenital alopecia, and nail dystrophy1 test
Telangiectasia, hereditary hemorrhagic, type 22 tests
Telangiectasia, hereditary hemorrhagic, type 52 tests
Thrombophilia due to thrombomodulin defect1 test
Townes-Brocks syndrome 11 test
Transient neonatal diabetes mellitus 32 tests
Treacher Collins syndrome 11 test
Treacher Collins syndrome 21 test
Trichohepatoenteric syndrome 11 test
Trichohepatoenteric syndrome 21 test
Type 2 diabetes mellitus3 tests
Type I complement component 8 deficiency1 test
Type II complement component 8 deficiency1 test
UDPglucose-4-epimerase deficiency1 test
Unverricht-Lundborg syndrome1 test
Urinary bladder cancer1 test
Waardenburg syndrome type 11 test
Waardenburg syndrome type 2D1 test
Waardenburg syndrome type 4C1 test
Warts, hypogammaglobulinemia, infections, and myelokathexis1 test
X-linked agammaglobulinemia1 test
X-linked mental retardation with marfanoid habitus syndrome1 test
X-linked severe congenital neutropenia1 test
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