Al Jalila Children's Genomics Center

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

505 conditions/phenotypes with 55 tests
Enter text to narrow down the list

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 haploinsuffiency1 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 association3 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.