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GTR Home > Laboratories > Al Jalila Children's Genomics Center

Al Jalila Children's Genomics Center

GTR Lab ID: 507199, Last updated:2023-07-05

Personnel

  • Director: Ahmad Abou Tayoun, PhD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Lab Director
    Email: Ahmad.Tayoun@ajch.ae
  • Alan Taylor, MSc, CGC, Certified Genetic counselor, CGC, Genetic Counselor
    Phone: +97142811480
    Email: alan.taylor@ajch.ae
  • Maha El Naofal, MS, CG(ASCP), MB(ASCP), Staff
  • Divinlal Harilal, MSc, Staff
  • Ruchi Jain, PhD, Staff
  • Yasmeen Qutub, BSc, Staff
  • Sathishkumar Ramaswamy, PhD, Informatics staff

Conditions and 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 31 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 due to a JAG1 point mutation2 tests
  • Alagille syndrome due to a NOTCH2 point mutation4 tests
  • Alpha-1-antitrypsin deficiency1 test
  • Alstrom syndrome1 test
  • Alveolar capillary dysplasia with pulmonary venous misalignment3 tests
  • Aneurysm-osteoarthritis syndrome1 test
  • 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 type 41 test
  • Ataxia-telangiectasia syndrome1 test
  • Atrial fibrillation, familial, 72 tests
  • Atypical hemolytic-uremic syndrome2 tests
  • Atypical hemolytic-uremic syndrome with C3 anomaly1 test
  • Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly2 tests
  • Atypical hemolytic-uremic syndrome with thrombomodulin anomaly1 test
  • Auriculocondylar syndrome 11 test
  • Auriculocondylar syndrome 21 test
  • Auriculocondylar syndrome 31 test
  • Autism spectrum disorder1 test
  • Autoimmune interstitial lung disease-arthritis syndrome3 tests
  • Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency1 test
  • Autoimmune lymphoproliferative syndrome type 41 test
  • Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD1 test
  • Autoinflammatory syndrome, familial, Behcet-like2 tests
  • Autosomal dominant nocturnal frontal lobe epilepsy 51 test
  • Autosomal dominant nonsyndromic hearing loss 131 test
  • Autosomal dominant osteopetrosis 21 test
  • Autosomal recessive nonsyndromic hearing loss 1A1 test
  • Autosomal recessive osteopetrosis 11 test
  • Autosomal recessive osteopetrosis 21 test
  • Autosomal recessive osteopetrosis 51 test
  • Autosomal recessive osteopetrosis 61 test
  • Autosomal recessive osteopetrosis 81 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 221 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 11 test
  • Benign recurrent intrahepatic cholestasis type 21 test
  • Biotinidase deficiency1 test
  • BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 191 test
  • BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 201 test
  • Body mass index quantitative trait locus 41 test
  • Bohring-Opitz syndrome1 test
  • Bone fragility with contractures, arterial rupture, and deafness1 test
  • Borjeson-Forssman-Lehmann syndrome1 test
  • Brachydactyly type A1D1 test
  • Brain-lung-thyroid syndrome1 test
  • Branchiootic syndrome 32 tests
  • Branchiootorenal syndrome 22 tests
  • C syndrome2 tests
  • C1Q deficiency1 test
  • Capillary malformation-arteriovenous malformation 11 test
  • Carcinoma of pancreas1 test
  • Cardiofaciocutaneous syndrome 31 test
  • Carotid intimal medial thickness 11 test
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11 test
  • Cerebral arteriovenous malformation1 test
  • Cerebral folate transport deficiency1 test
  • Cerebro-costo-mandibular syndrome1 test
  • Cernunnos-XLF deficiency1 test
  • CFHR5 deficiency1 test
  • CHARGE syndrome3 tests
  • Chitayat syndrome2 tests
  • Cholestasis, intrahepatic, of pregnancy, 31 test
  • Cholestasis, progressive familial intrahepatic, 41 test
  • Cholestasis, progressive familial intrahepatic, 51 test
  • Christianson syndrome1 test
  • Chylomicron retention disease1 test
  • Ciliary dyskinesia, primary, 372 tests
  • Citrullinemia type II1 test
  • Classic homocystinuria1 test
  • Cleidocranial dysostosis2 tests
  • Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome2 tests
  • Cohen syndrome1 test
  • Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness1 test
  • Combined immunodeficiency due to DOCK8 deficiency1 test
  • Combined immunodeficiency due to LRBA deficiency1 test
  • Combined immunodeficiency due to partial RAG1 deficiency1 test
  • Combined immunodeficiency with skin granulomas1 test
  • Combined immunodeficiency, X-linked1 test
  • Complement component 3 deficiency1 test
  • Complement component 4a deficiency1 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
  • 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 diarrhea 7 with exudative enteropathy1 test
  • Congenital generalized lipodystrophy type 31 test
  • Congenital glucose-galactose malabsorption1 test
  • Congenital heart defects, multiple types, 51 test
  • Congenital lactase deficiency1 test
  • Congenital malabsorptive diarrhea 41 test
  • Congenital microvillous atrophy2 tests
  • Congenital muscular hypertrophy-cerebral syndrome1 test
  • Congenital secretory diarrhea, chloride type1 test
  • Congenital secretory sodium diarrhea 31 test
  • Congenital secretory sodium diarrhea 81 test
  • Conotruncal heart malformations1 test
  • Corneal dystrophy, Fuchs endothelial, 31 test
  • Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome1 test
  • Cornelia de Lange syndrome 11 test
  • Cornelia de Lange syndrome 31 test
  • Cornelia de Lange syndrome 51 test
  • Cortical dysplasia-focal epilepsy syndrome1 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 22 tests
  • Craniosynostosis 62 tests
  • Creatine transporter deficiency1 test
  • Cryptosporidiosis-chronic cholangitis-liver disease syndrome1 test
  • Curry-Hall syndrome1 test
  • Cushing syndrome1 test
  • Cutis laxa, autosomal recessive, type 1A1 test
  • Cutis laxa, autosomal recessive, type 1B1 test
  • Cyclical neutropenia1 test
  • Cystic fibrosis3 tests
  • Deafness, congenital heart defects, and posterior embryotoxon2 tests
  • Deafness-lymphedema-leukemia syndrome2 tests
  • Deficiency of 3-hydroxyacyl-CoA dehydrogenase2 tests
  • Deficiency of acetyl-CoA acetyltransferase2 tests
  • Deficiency of galactokinase1 test
  • Deficiency of guanidinoacetate methyltransferase1 test
  • Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
  • Dermatofibrosis lenticularis disseminata1 test
  • Developmental and epileptic encephalopathy, 11 test
  • Developmental and epileptic encephalopathy, 111 test
  • Developmental and epileptic encephalopathy, 21 test
  • Developmental and epileptic encephalopathy, 261 test
  • Developmental and epileptic encephalopathy, 271 test
  • Developmental and epileptic encephalopathy, 461 test
  • Developmental and epileptic encephalopathy, 581 test
  • Developmental and epileptic encephalopathy, 71 test
  • Developmental and epileptic encephalopathy, 91 test
  • Diabetes mellitus, transient neonatal, 32 tests
  • Dilated cardiomyopathy 1NN1 test
  • DNA ligase IV deficiency1 test
  • Dubin-Johnson syndrome1 test
  • DYRK1A-related intellectual disability syndrome1 test
  • Dyskeratosis congenita, autosomal dominant 11 test
  • Dyskeratosis congenita, X-linked2 tests
  • Dystonia 91 test
  • Ectodermal dysplasia and immunodeficiency 12 tests
  • Eculizumab, poor response to1 test
  • Ehlers-Danlos syndrome1 test
  • Ehlers-Danlos syndrome, cardiac valvular type1 test
  • Ehlers-Danlos syndrome, classic type, 21 test
  • Ehlers-Danlos syndrome, kyphoscoliotic type 11 test
  • Ehlers-Danlos syndrome, periodontal type 11 test
  • Ehlers-Danlos syndrome, type 42 tests
  • Ellis-van Creveld syndrome1 test
  • Encephalocraniocutaneous lipomatosis2 tests
  • Epilepsy2 tests
  • Epiphyseal dysplasia, multiple, 61 test
  • Exudative vitreoretinopathy 41 test
  • Familial cold autoinflammatory syndrome 11 test
  • Familial cold autoinflammatory syndrome 22 tests
  • Familial cold autoinflammatory syndrome 31 test
  • Familial expansile osteolysis1 test
  • Familial Mediterranean fever2 tests
  • Familial pulmonary capillary hemangiomatosis2 tests
  • Familial spontaneous pneumothorax1 test
  • Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young2 tests
  • Fanconi-Bickel syndrome1 test
  • Feingold syndrome type 11 test
  • FG syndrome 21 test
  • Fibrochondrogenesis 11 test
  • Fibromatosis, gingival, 11 test
  • Fibrous dysplasia of jaw1 test
  • Fragile X syndrome1 test
  • Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome1 test
  • Frontonasal dysplasia with alopecia and genital anomaly1 test
  • Frontorhiny1 test
  • Fructose-biphosphatase deficiency1 test
  • Galactosemia1 test
  • Generalized epilepsy with febrile seizures plus, type 21 test
  • Generalized pustular psoriasis1 test
  • Global developmental delay1 test
  • Glucose-6-phosphate transport defect1 test
  • Glycogen storage disease due to glucose-6-phosphatase deficiency type IA2 tests
  • Glycogen storage disease IXa12 tests
  • Glycogen storage disease IXb2 tests
  • Glycogen storage disease IXc2 tests
  • Glycogen storage disease IXd1 test
  • Glycogen storage disease type III2 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
  • Glycogen storage disorder due to hepatic glycogen synthase deficiency2 tests
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative1 test
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 11 test
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 21 test
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 31 test
  • Granulomatous disease, chronic, X-linked1 test
  • Greig cephalopolysyndactyly syndrome1 test
  • H syndrome1 test
  • Hearing loss, autosomal dominant 34, with or without inflammation1 test
  • Hemolytic uremic syndrome, atypical, susceptibility to, 12 tests
  • Hereditary angioedema type 11 test
  • Hereditary disease2 tests
  • Hereditary pancreatitis1 test
  • Heterotopia, periventricular, X-linked dominant1 test
  • Histiocytic medullary reticulosis1 test
  • Hyper-IgM syndrome type 11 test
  • Hyper-IgM syndrome type 21 test
  • Hyper-IgM syndrome type 51 test
  • Hypercholanemia, familial 11 test
  • Hypercholesterolemia, autosomal dominant, type B1 test
  • Hyperinsulinism-hyperammonemia syndrome2 tests
  • Hypomyelinating leukodystrophy 111 test
  • Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome1 test
  • IL21-related infantile inflammatory bowel disease1 test
  • Immunodeficiency 1041 test
  • Immunodeficiency 141 test
  • Immunodeficiency due to ficolin3 deficiency1 test
  • Immunodeficiency due to MASP-2 deficiency1 test
  • Immunodeficiency, common variable, 11 test
  • Immunodeficiency, common variable, 101 test
  • Immunodeficiency, common variable, 121 test
  • Immunodeficiency, common variable, 71 test
  • Immunoglobulin-mediated membranoproliferative glomerulonephritis1 test
  • Infantile nephronophthisis2 tests
  • Infantile-onset periodic fever-panniculitis-dermatosis syndrome1 test
  • Inflammatory bowel disease 11 test
  • Inflammatory skin and bowel disease, neonatal, 11 test
  • Insulin-resistant diabetes mellitus AND acanthosis nigricans1 test
  • Intellectual disability, autosomal dominant 11 test
  • Intellectual disability, autosomal dominant 201 test
  • Interstitial lung disease due to ABCA3 deficiency2 tests
  • Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked1 test
  • Ischemic stroke1 test
  • Joubert syndrome 101 test
  • Juvenile myelomonocytic leukemia1 test
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome1 test
  • Kabuki syndrome 11 test
  • Kabuki syndrome 21 test
  • Kartagener syndrome2 tests
  • KBG syndrome1 test
  • Kleefstra syndrome 11 test
  • Lafora disease1 test
  • Landau-Kleffner syndrome1 test
  • Langer mesomelic dysplasia syndrome1 test
  • Larsen-like syndrome, B3GAT3 type1 test
  • Legius syndrome1 test
  • LEOPARD syndrome 11 test
  • Lethal osteosclerotic bone dysplasia1 test
  • Leukocyte adhesion deficiency 31 test
  • Loeys-Dietz syndrome 12 tests
  • Loeys-Dietz syndrome 21 test
  • Loeys-Dietz syndrome 41 test
  • Lung carcinoma1 test
  • Luscan-Lumish syndrome1 test
  • Lymphoproliferative syndrome 21 test
  • Lynch syndrome 81 test
  • Lysinuric protein intolerance2 tests
  • Lysosomal acid lipase deficiency1 test
  • Majeed syndrome2 tests
  • Malignant tumor of esophagus1 test
  • Malignant tumor of urinary bladder1 test
  • Mandibulofacial dysostosis-microcephaly syndrome1 test
  • Maple syrup urine disease1 test
  • Marfan syndrome2 tests
  • Marshall syndrome1 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
  • 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
  • Meconium ileus1 test
  • MEGF8-related Carpenter syndrome2 tests
  • Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency1 test
  • Metabolic myopathy due to lactate transporter defect3 tests
  • Mevalonic aciduria2 tests
  • Microvascular complications of diabetes, susceptibility to, 41 test
  • Miller syndrome1 test
  • Monocytopenia with susceptibility to infections1 test
  • Mowat-Wilson syndrome1 test
  • Multiple congenital anomalies1 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 primary hyperparathyroidism1 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
  • OBESITY (BMIQ9), SUSCEPTIBILITY TO1 test
  • Obesity due to congenital leptin deficiency1 test
  • Obesity due to leptin receptor gene deficiency1 test
  • Obesity due to pro-opiomelanocortin deficiency1 test
  • Obesity due to prohormone convertase I deficiency2 tests
  • 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
  • Otitis media, susceptibility to1 test
  • Oto-palato-digital syndrome, type I1 test
  • Otofaciocervical syndrome 12 tests
  • Pancreatic triacylglycerol lipase deficiency1 test
  • Pancytopenia due to IKZF1 mutations1 test
  • Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome1 test
  • Periodic fever-infantile enterocolitis-autoinflammatory syndrome1 test
  • PGM1-congenital disorder of glycosylation1 test
  • Phenylketonuria1 test
  • Phosphate transport defect1 test
  • Phosphoenolpyruvate carboxykinase deficiency, cytosolic1 test
  • Pitt-Hopkins-like syndrome 21 test
  • PMM2-congenital disorder of glycosylation1 test
  • Primary CD59 deficiency1 test
  • Primary ciliary dyskinesia2 tests
  • Primary ciliary dyskinesia 102 tests
  • Primary ciliary dyskinesia 112 tests
  • Primary ciliary dyskinesia 122 tests
  • Primary ciliary dyskinesia 132 tests
  • Primary ciliary dyskinesia 142 tests
  • Primary ciliary dyskinesia 152 tests
  • Primary ciliary dyskinesia 162 tests
  • Primary ciliary dyskinesia 172 tests
  • Primary ciliary dyskinesia 182 tests
  • Primary ciliary dyskinesia 192 tests
  • Primary ciliary dyskinesia 22 tests
  • Primary ciliary dyskinesia 202 tests
  • Primary ciliary dyskinesia 212 tests
  • Primary ciliary dyskinesia 222 tests
  • Primary ciliary dyskinesia 232 tests
  • Primary ciliary dyskinesia 242 tests
  • Primary ciliary dyskinesia 252 tests
  • Primary ciliary dyskinesia 262 tests
  • Primary ciliary dyskinesia 272 tests
  • Primary ciliary dyskinesia 282 tests
  • Primary ciliary dyskinesia 292 tests
  • Primary ciliary dyskinesia 32 tests
  • Primary ciliary dyskinesia 302 tests
  • Primary ciliary dyskinesia 322 tests
  • Primary ciliary dyskinesia 332 tests
  • Primary ciliary dyskinesia 52 tests
  • Primary ciliary dyskinesia 62 tests
  • Primary ciliary dyskinesia 72 tests
  • Primary ciliary dyskinesia 92 tests
  • Progeroid and marfanoid aspect-lipodystrophy syndrome1 test
  • Progressive sclerosing poliodystrophy1 test
  • Properdin deficiency, X-linked1 test
  • Proteasome-associated autoinflammatory syndrome 12 tests
  • Pseudo-TORCH syndrome 21 test
  • Psoriasis 15, pustular, susceptibility to1 test
  • Psoriasis 21 test
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 21 test
  • Pulmonary hypertension, primary, 12 tests
  • Pulmonary hypertension, primary, 22 tests
  • Pulmonary hypertension, primary, 42 tests
  • Purine-nucleoside phosphorylase deficiency1 test
  • Pyknodysostosis1 test
  • Pyogenic arthritis-pyoderma gangrenosum-acne syndrome2 tests
  • Pyridoxal phosphate-responsive seizures1 test
  • Pyridoxine-dependent epilepsy1 test
  • RAB23-related Carpenter syndrome2 tests
  • Recurrent Neisseria infections due to factor D deficiency1 test
  • Retinitis pigmentosa 231 test
  • Retinitis pigmentosa 31 test
  • Retinitis pigmentosa 511 test
  • Retinitis pigmentosa 551 test
  • Retinitis pigmentosa 711 test
  • Retinitis pigmentosa and erythrocytic microcytosis1 test
  • Rett syndrome, congenital variant1 test
  • Rienhoff syndrome1 test
  • Rubinstein-Taybi syndrome due to CREBBP mutations1 test
  • Rubinstein-Taybi syndrome due to EP300 haploinsufficiency1 test
  • Sarcotubular myopathy1 test
  • Schaaf-Yang syndrome1 test
  • Schuurs-Hoeijmakers syndrome1 test
  • Severe combined immunodeficiency disease1 test
  • Severe combined immunodeficiency due to DNA-PKcs deficiency1 test
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency1 test
  • Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency2 tests
  • Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome1 test
  • Severe neonatal-onset encephalopathy with microcephaly1 test
  • Sex chromosome disorder of sex development1 test
  • Short stature-brachydactyly-obesity-global developmental delay syndrome1 test
  • Shprintzen-Goldberg syndrome3 tests
  • Spastic paraplegia, intellectual disability, nystagmus, and obesity1 test
  • Spinal muscular atrophy1 test
  • Spondyloenchondrodysplasia with immune dysregulation1 test
  • STAT3-related early-onset multisystem autoimmune disease1 test
  • Stickler syndrome1 test
  • STING-associated vasculopathy with onset in infancy1 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, 42 tests
  • Surfactant metabolism dysfunction, pulmonary, 52 tests
  • Systemic lupus erythematosus2 tests
  • T-B+ severe combined immunodeficiency due to JAK3 deficiency1 test
  • T-cell immunodeficiency, congenital alopecia, and nail dystrophy1 test
  • TCF12-related craniosynostosis2 tests
  • Telangiectasia, hereditary hemorrhagic, type 12 tests
  • Telangiectasia, hereditary hemorrhagic, type 22 tests
  • Telangiectasia, hereditary hemorrhagic, type 52 tests
  • Thrombomodulin-related bleeding disorder1 test
  • Townes-Brocks syndrome 11 test
  • Treacher Collins syndrome 11 test
  • Treacher Collins syndrome 21 test
  • Trichohepatoenteric syndrome 11 test
  • Trichohepatoenteric syndrome 21 test
  • TWIST1-related craniosynostosis2 tests
  • Type 1 diabetes mellitus 21 test
  • Type 1 diabetes mellitus 203 tests
  • 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
  • Vasculitis due to ADA2 deficiency3 tests
  • 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 Alport syndrome2 tests
  • X-linked cone-rod dystrophy 11 test
  • X-linked intellectual disability Cabezas type1 test
  • X-linked intellectual disability with marfanoid habitus1 test
  • X-linked intellectual disability-cerebellar hypoplasia syndrome1 test
  • X-linked lymphoproliferative disease due to SH2D1A deficiency1 test
  • X-linked lymphoproliferative disease due to XIAP deficiency1 test
  • X-linked reticulate pigmentary disorder1 test
  • X-linked severe congenital neutropenia1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Genetic counseling
  • Result interpretation
  • Constitutional NGS panels
  • Constitutional SNP based microarray
  • Diagnostic methylation & deletion/duplication analysis
  • Triplet repeat analysis

List of certifications/licenses

Certifications

  • CAP, Number: 8549987, Expiration date: 2021-09-30

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.