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

Al Jalila Children's Genomics Center

GTR Lab ID: 507199, Last updated:2021-08-16

Personnel

  • Director: Ahmad Abou Tayoun, PhD, ABMG, FACMG, DABMG, 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, 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 191 test
  • BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 201 test
  • Body mass index quantitative trait locus 41 test
  • Body mass index quantitative trait locus 91 test
  • Bohring-Opitz 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
  • 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
  • CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy1 test
  • 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
  • CFHR5 deficiency1 test
  • CHARGE association3 tests
  • 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, autosomal recessive cytochrome b-positive, type 11 test
  • Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 21 test
  • Chronic granulomatous disease, X-linked1 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 acetyl-CoA acetyltransferase2 tests
  • Deficiency of galactokinase1 test
  • Deficiency of guanidinoacetate methyltransferase1 test
  • Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 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, autosomal dominant 11 test
  • Dyskeratosis congenita, X-linked2 tests
  • 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
  • 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
  • Familial Mediterranean fever2 tests
  • Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young2 tests
  • Fanconi-Bickel syndrome1 test
  • Feingold syndrome 11 test
  • FG syndrome 21 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 due to glucose-6-phosphatase deficiency type IA2 tests
  • Glycogen storage disease due to hepatic glycogen synthase deficiency2 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 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
  • Kabuki syndrome 11 test
  • Kabuki syndrome 21 test
  • Kartagener syndrome2 tests
  • KBG syndrome1 test
  • Kleefstra syndrome 11 test
  • Lafora disease1 test
  • Langer mesomelic dysplasia syndrome1 test
  • Legius syndrome1 test
  • LEOPARD syndrome 11 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
  • 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
  • MASP2 deficiency1 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

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

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