DDC Clinic Molecular Diagnostics Laboratory

Personnel

Director: Heng Wang, MD, PhD, ABP, Lab Director

Conditions and tests

677 conditions/phenotypes with 427 tests
Enter text to narrow down the list

3-methylcrotonyl-CoA carboxylase 1 deficiency1 test
3-methylcrotonyl-CoA carboxylase 2 deficiency1 test
3-Methylglutaconic aciduria type 21 test
Acromicric dysplasia1 test
Actin accumulation myopathy1 test
Adult I blood group with congenital cataract1 test
Adult-onset autosomal dominant demyelinating leukodystrophy1 test
Age related macular degeneration 41 test
Aicardi-Goutieres syndrome 11 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 mutation1 test
Alagille syndrome due to a NOTCH2 point mutation1 test
Alpha thalassemia-X-linked intellectual disability syndrome1 test
Alpha-methylacyl-CoA racemase deficiency1 test
Alport syndrome3 tests
Amyloid Cardiomyopathy, Transthyretin-related1 test
Anauxetic dysplasia 11 test
Andersen Tawil syndrome1 test
Aneurysm-osteoarthritis syndrome1 test
Angelman syndrome2 tests
Angelman syndrome-like1 test
Anophthalmia-microphthalmia syndrome2 tests
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis1 test
Aortic aneurysm, familial thoracic 61 test
Aortic aneurysm, familial thoracic 71 test
Aortic aneurysm, familial thoracic, SMAD3 related1 test
Aortic valve disease 21 test
Arginine:glycine amidinotransferase deficiency1 test
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma1 test
Arrhythmogenic right ventricular dysplasia 11 test
Arrhythmogenic right ventricular dysplasia 101 test
Arrhythmogenic right ventricular dysplasia 111 test
Arrhythmogenic right ventricular dysplasia 121 test
Arrhythmogenic right ventricular dysplasia 131 test
Arrhythmogenic right ventricular dysplasia 81 test
Arthrogryposis, distal, type 1A1 test
Ataxia-telangiectasia syndrome1 test
Ateleiotic dwarfism1 test
Atrial fibrillation, familial, 101 test
Atrial fibrillation, familial, 131 test
Atrial fibrillation, familial, 141 test
Atrial fibrillation, familial, 41 test
Atrial fibrillation, familial, 91 test
Atrial septal defect 21 test
Atrial septal defect 31 test
Atrial septal defect 41 test
Atrial septal defect 51 test
Atrioventricular septal defect 41 test
Atrophia bulborum hereditaria1 test
Autism, susceptibility to, X-linked 31 test
Autoimmune lymphoproliferative syndrome type 11 test
Autoimmune lymphoproliferative syndrome type 41 test
Autosomal dominant isolated somatotropin deficiency1 test
Autosomal dominant nonsyndromic hearing loss 61 test
Autosomal dominant osteopetrosis 11 test
Autosomal dominant osteopetrosis 21 test
Autosomal dominant Parkinson disease 11 test
Autosomal recessive congenital ichthyosis 4A1 test
Autosomal recessive congenital ichthyosis 4B1 test
Autosomal recessive early-onset Parkinson disease 61 test
Autosomal recessive early-onset Parkinson disease 71 test
Autosomal recessive inherited pseudoxanthoma elasticum1 test
Autosomal recessive juvenile Parkinson disease 21 test
Autosomal recessive limb-girdle muscular dystrophy type 2G1 test
Autosomal recessive osteopetrosis 11 test
Autosomal recessive osteopetrosis 21 test
Autosomal recessive osteopetrosis 41 test
Autosomal recessive osteopetrosis 61 test
Autosomal recessive osteopetrosis 71 test
Autosomal recessive Parkinson disease 141 test
Autosomal recessive polycystic kidney disease1 test
Bannayan-Riley-Ruvalcaba syndrome1 test
Bartter disease type 11 test
Bartter disease type 31 test
Bartter disease type 4A1 test
Bartter disease type 4B1 test
Basal cell carcinoma, susceptibility to, 11 test
Basal laminar drusen1 test
Beckwith-Wiedemann syndrome1 test
Benign recurrent intrahepatic cholestasis type 12 tests
Benign recurrent intrahepatic cholestasis type 21 test
Biotinidase deficiency1 test
Blau syndrome2 tests
Blepharophimosis, ptosis, and epicanthus inversus syndrome1 test
Bloom syndrome1 test
Body mass index quantitative trait locus 41 test
Branchiooculofacial syndrome2 tests
Brugada syndrome2 tests
Brugada syndrome 11 test
Brugada syndrome 21 test
Brugada syndrome 41 test
Brugada syndrome 51 test
Brugada syndrome 61 test
Brugada syndrome 71 test
Brugada syndrome 81 test
Brugada syndrome 91 test
Café-au-lait macules with pulmonary stenosis1 test
Camptomelic dysplasia1 test
Carcinoma of colon1 test
Cardiac arrhythmia, ankyrin-B-related1 test
Cardio-facio-cutaneous syndrome1 test
Cardiofaciocutaneous syndrome 21 test
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis1 test
Cardiomyopathy, familial restrictive, 11 test
Cardiomyopathy, familial restrictive, 31 test
Carney complex1 test
Carney-Stratakis syndrome2 tests
Cataract 1 multiple types1 test
Cataract 13 with adult I phenotype1 test
Cataract 16 multiple types1 test
Cataract 17 multiple types1 test
Cataract 181 test
Cataract 19 multiple types1 test
Cataract 22 multiple types1 test
Cataract 361 test
Cataract 381 test
Cataract 401 test
Cataract 5 multiple types1 test
Cataract 9 multiple types1 test
Catecholaminergic polymorphic ventricular tachycardia3 tests
Catecholaminergic polymorphic ventricular tachycardia 51 test
CBL-related disorder1 test
Centronuclear myopathy1 test
Cerebral cavernous malformation2 tests
Cerebral cavernous malformation 21 test
Cerebral creatine deficiency syndrome2 tests
Cerebral folate transport deficiency1 test
Cerebro facio thoracic dysplasia1 test
Charcot-Marie-Tooth disease axonal type 2K1 test
Charcot-Marie-Tooth disease recessive intermediate A1 test
Charcot-Marie-Tooth disease type 2B11 test
Charcot-Marie-Tooth disease type 4A1 test
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive1 test
Charcot-Marie-Tooth disease, type IA1 test
CHARGE association1 test
Chilblain lupus 11 test
Chilblain lupus 21 test
Childhood onset GLUT1 deficiency syndrome 21 test
Childhood-onset cerebral X-linked adrenoleukodystrophy1 test
Cholestasis, intrahepatic, of pregnancy, 11 test
Cholestasis, intrahepatic, of pregnancy, 31 test
Cholestasis, progressive familial intrahepatic, 41 test
Chronic infantile neurological, cutaneous and articular syndrome1 test
Citrin deficiency1 test
Classic homocystinuria1 test
CLOVES syndrome1 test
Cockayne syndrome type 21 test
Coffin-Lowry syndrome1 test
Cohen syndrome1 test
Congenital bile acid synthesis defect 11 test
Congenital bile acid synthesis defect 21 test
Congenital bile acid synthesis defect 31 test
Congenital bile acid synthesis defect 41 test
Congenital bile acid synthesis defect 51 test
Congenital cataracts-facial dysmorphism-neuropathy syndrome1 test
Congenital central hypoventilation5 tests
Congenital glucose-galactose malabsorption1 test
Congenital malabsorptive diarrhea 41 test
Congenital microvillous atrophy1 test
Congenital muscular dystrophy due to LMNA mutation1 test
Congenital muscular hypertrophy-cerebral syndrome1 test
Congenital myasthenic syndrome1 test
Congenital myopathy 231 test
Congenital myopathy 4B, autosomal recessive1 test
Congenital myopathy with fiber type disproportion4 tests
Congenital myotonia, autosomal dominant form1 test
Congenital myotonia, autosomal recessive form1 test
Congenital nongoitrous hypothryoidism 61 test
Cornelia de Lange syndrome 11 test
Cornelia de Lange syndrome 31 test
Cornelia de Lange syndrome 41 test
Cortical dysplasia-focal epilepsy syndrome1 test
Costello syndrome1 test
Cowden syndrome1 test
Cowden syndrome 11 test
Cowden syndrome 31 test
Cowden syndrome 51 test
Cowden syndrome 61 test
Creatine transporter deficiency1 test
Crigler-Najjar syndrome1 test
Cutaneous porphyria1 test
Cyclical neutropenia2 tests
Cystinosis1 test
De Lange syndrome2 tests
Deficiency of alpha-mannosidase1 test
Deficiency of galactokinase1 test
Deficiency of guanidinoacetate methyltransferase1 test
Dent disease type 11 test
Dent disease type 21 test
Developmental and epileptic encephalopathy, 111 test
Developmental and epileptic encephalopathy, 21 test
Developmental and epileptic encephalopathy, 41 test
Developmental and epileptic encephalopathy, 71 test
Developmental delay with autism spectrum disorder and gait instability1 test
Diabetes insipidus, nephrogenic, X-linked1 test
Diabetes mellitus type 11 test
Diabetes mellitus, transient neonatal, 21 test
Diabetes mellitus, transient neonatal, 31 test
Dilated cardiomyopathy 1A1 test
Dilated cardiomyopathy 1AA1 test
Dilated cardiomyopathy 1BB1 test
Dilated cardiomyopathy 1D1 test
Dilated cardiomyopathy 1E1 test
Dilated cardiomyopathy 1EE1 test
Dilated cardiomyopathy 1FF1 test
Dilated cardiomyopathy 1HH1 test
Dilated cardiomyopathy 1KK1 test
Dilated cardiomyopathy 1M1 test
Dilated cardiomyopathy 1P1 test
Dilated cardiomyopathy 1R1 test
Dilated cardiomyopathy 1S1 test
Dilated cardiomyopathy 1W1 test
Dilated cardiomyopathy 1Y1 test
Dilated cardiomyopathy 1Z1 test
Dilated cardiomyopathy 2A1 test
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome1 test
Distal arthrogryposis type 2B11 test
Distal myopathy, Tateyama type1 test
DSP-related Dilated cardiomyopathy1 test
Duane-radial ray syndrome1 test
Dubin-Johnson syndrome1 test
Dystonia 51 test
Dystonia 91 test
Ectopia lentis 1, isolated, autosomal dominant1 test
Ehlers-Danlos syndrome1 test
Ehlers-Danlos syndrome, kyphoscoliotic type 11 test
Elevated circulating creatine kinase concentration1 test
Elliptocytosis 21 test
Emery-Dreifuss muscular dystrophy 2, autosomal dominant1 test
Emery-Dreifuss muscular dystrophy 7, autosomal dominant1 test
Encephalopathy due to GLUT1 deficiency1 test
Endometrial carcinoma1 test
Epidermal nevus3 tests
Epidermolysis bullosa dystrophica1 test
Epidermolysis bullosa simplex due to plakophilin deficiency1 test
Epilepsy1 test
Epilepsy, progressive myoclonic, 2b1 test
Episodic kinesigenic dyskinesia1 test
Exercise-induced hyperinsulinism1 test
Exudative vitreoretinopathy 11 test
Exudative vitreoretinopathy 2, X-linked1 test
Exudative vitreoretinopathy 41 test
Fabry disease1 test
Familial amyloid nephropathy with urticaria AND deafness2 tests
Familial amyloid neuropathy1 test
Familial cancer of breast2 tests
Familial cold autoinflammatory syndrome2 tests
Familial cold autoinflammatory syndrome 22 tests
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome1 test
Familial gestational hyperthyroidism1 test
Familial hemiplegic migraine1 test
Familial hyperaldosteronism type III1 test
Familial hypercholesterolemia2 tests
Familial hyperinsulinism1 test
Familial hyperthyroidism due to mutations in TSH receptor1 test
Familial hypobetalipoproteinemia 11 test
Familial hypokalemia-hypomagnesemia1 test
Familial isolated arrhythmogenic right ventricular dysplasia1 test
Familial Mediterranean fever2 tests
Familial Mediterranean fever, autosomal dominant2 tests
Familial medullary thyroid carcinoma1 test
Familial meningioma2 tests
Familial partial lipodystrophy, Dunnigan type1 test
Familial thoracic aortic aneurysm and aortic dissection2 tests
Familial X-linked hypophosphatemic vitamin D refractory rickets1 test
Fanconi-Bickel syndrome1 test
Farber lipogranulomatosis1 test
Febrile seizures, familial, 81 test
Feingold syndrome type 11 test
Fibromatosis, gingival, 11 test
Focal dermal hypoplasia1 test
Galactosylceramide beta-galactosidase deficiency1 test
Gallbladder disease 41 test
Galloway-Mowat syndrome 12 tests
Gaucher disease perinatal lethal1 test
Gaucher disease type I1 test
Gaucher disease type II1 test
Gaucher disease type III1 test
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome1 test
Geleophysic dysplasia 21 test
Generalized epilepsy with febrile seizures plus 31 test
Generalized epilepsy with febrile seizures plus, type 11 test
Generalized epilepsy with febrile seizures plus, type 21 test
Generalized epilepsy with febrile seizures plus, type 71 test
Glaucoma 3, primary infantile, B1 test
Glioma susceptibility 21 test
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1 test
Glycogen storage disease IXa11 test
Glycogen storage disease IXb1 test
Glycogen storage disease, type II1 test
GM3 synthase deficiency2 tests
Gorlin syndrome1 test
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative1 test
Granulomatous disease, chronic, X-linked1 test
Greig cephalopolysyndactyly syndrome1 test
Hajdu-Cheney syndrome1 test
Hawkinsinuria1 test
Heart-hand syndrome, Slovenian type1 test
Hemochromatosis type 2A1 test
Hemochromatosis type 2B1 test
Hemochromatosis type 41 test
Hemolytic uremic syndrome, atypical, susceptibility to2 tests
Hepatocellular carcinoma1 test
Hereditary cryohydrocytosis with reduced stomatin1 test
Hereditary diffuse gastric adenocarcinoma1 test
Hereditary elliptocytosis1 test
Hereditary factor IX deficiency disease2 tests
Hereditary fructosuria1 test
Hereditary hyperferritinemia with congenital cataracts1 test
Hereditary neutrophilia1 test
Hereditary pancreatitis1 test
Hereditary sclerosing poikiloderma1 test
Hereditary spastic paraplegia 21 test
Hereditary spastic paraplegia 261 test
Hereditary spastic paraplegia 351 test
Hereditary spastic paraplegia 41 test
Hereditary spastic paraplegia 5A1 test
Hereditary spastic paraplegia 71 test
Hereditary spherocytosis type 11 test
Hereditary spherocytosis type 21 test
Hereditary spherocytosis type 31 test
Hereditary spherocytosis type 41 test
Hereditary spherocytosis type 51 test
Hermansky-Pudlak syndrome 21 test
High myopia-sensorineural deafness syndrome1 test
Hirschsprung disease, susceptibility to, 11 test
Hirschsprung disease, susceptibility to, 31 test
Hirschsprung disease, susceptibility to, 41 test
Holoprosencephaly 71 test
Holt-Oram syndrome1 test
Hutchinson-Gilford syndrome1 test
Hypercholanemia, familial 13 tests
Hypercholesterolemia, autosomal dominant, 31 test
Hypercholesterolemia, familial, 41 test
Hyperekplexia 12 tests
Hyperekplexia 21 test
Hyperekplexia 31 test
Hyperimmunoglobulin D with periodic fever2 tests
Hyperinsulinemic hypoglycemia, familial, 11 test
Hyperinsulinemic hypoglycemia, familial, 21 test
Hyperinsulinemic hypoglycemia, familial, 41 test
Hyperinsulinism due to glucokinase deficiency2 tests
Hyperinsulinism due to INSR deficiency1 test
Hyperlipoproteinemia1 test
Hyperparathyroidism 2 with jaw tumors1 test
Hyperproinsulinemia1 test
Hyperthyroxinemia, dystransthyretinemic1 test
Hypertrophic cardiomyopathy 14 tests
Hypertrophic cardiomyopathy 101 test
Hypertrophic cardiomyopathy 111 test
Hypertrophic cardiomyopathy 121 test
Hypertrophic cardiomyopathy 131 test
Hypertrophic cardiomyopathy 141 test
Hypertrophic cardiomyopathy 151 test
Hypertrophic cardiomyopathy 161 test
Hypertrophic cardiomyopathy 181 test
Hypertrophic cardiomyopathy 191 test
Hypertrophic cardiomyopathy 21 test
Hypertrophic cardiomyopathy 251 test
Hypertrophic cardiomyopathy 31 test
Hypertrophic cardiomyopathy 41 test
Hypertrophic cardiomyopathy 71 test
Hypertrophic cardiomyopathy 81 test
Hypogonadotropic hypogonadism 1 with or without anosmia1 test
Hypogonadotropic hypogonadism 2 with or without anosmia1 test
Hypogonadotropic hypogonadism 5 with or without anosmia1 test
Hypogonadotropic hypogonadism 6 with or without anosmia1 test
Hypogonadotropic hypogonadism 7 with or without anosmia1 test
Hypohidrotic ectodermal dysplasia1 test
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism1 test
Hypophosphatemic rickets1 test
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration1 test
Hypothyroidism due to TSH receptor mutations1 test
Hypothyroidism, congenital, nongoitrous, 21 test
Infantile neuroaxonal dystrophy1 test
Inflammatory bowel disease 12 tests
Insulin-dependent diabetes mellitus secretory diarrhea syndrome1 test
Intellectual disability, autosomal dominant 11 test
Intellectual disability, autosomal dominant 201 test
Intermediate maple syrup urine disease type 21 test
Isolated growth hormone deficiency type IB2 tests
Isolated thyroid-stimulating hormone deficiency1 test
Jackson-Weiss syndrome1 test
Jawad syndrome1 test
Jervell and Lange-Nielsen syndrome1 test
Jervell and Lange-Nielsen syndrome 21 test
Junctional epidermolysis bullosa5 tests
Juvenile myelomonocytic leukemia2 tests
Juvenile onset Parkinson disease 19A1 test
Kabuki syndrome 11 test
KBG syndrome1 test
Keratosis palmoplantaris striata 21 test
Ketoacidosis due to monocarboxylate transporter-1 deficiency1 test
Kleefstra syndrome 11 test
Kostmann syndrome1 test
Kufor-Rakeb syndrome1 test
L-ferritin deficiency1 test
Large congenital melanocytic nevus1 test
Laron-type isolated somatotropin defect1 test
Left ventricular noncompaction 11 test
Legius syndrome1 test
LEOPARD syndrome 11 test
LEOPARD syndrome 21 test
LEOPARD syndrome 31 test
Leprechaunism syndrome1 test
Leprosy, susceptibility to, 21 test
Lesch-Nyhan syndrome1 test
Lethal acantholytic epidermolysis bullosa1 test
Lethal tight skin contracture syndrome1 test
Leucine-induced hypoglycemia1 test
Leukocyte adhesion deficiency 31 test
Lewy body dementia1 test
Limb-girdle muscular dystrophy1 test
Linear nevus sebaceous syndrome3 tests
Loeys-Dietz syndrome1 test
Loeys-Dietz syndrome 21 test
Loeys-Dietz syndrome 41 test
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency1 test
Long QT syndrome1 test
Long QT syndrome 11 test
Long QT syndrome 101 test
Long QT syndrome 111 test
Long QT syndrome 121 test
Long QT syndrome 131 test
Long QT syndrome 141 test
Long QT syndrome 21 test
Long QT syndrome 31 test
Long QT syndrome 51 test
Long QT syndrome 61 test
Long QT syndrome 91 test
Low phospholipid associated cholelithiasis1 test
Lowe syndrome1 test
Lung carcinoma2 tests
Lysinuric protein intolerance1 test
Macrocephaly-autism syndrome1 test
Macrocephaly-developmental delay syndrome1 test
Majeed syndrome2 tests
Malan overgrowth syndrome1 test
Mandibuloacral dysplasia with type A lipodystrophy1 test
Maple syrup urine disease2 tests
Maple syrup urine disease type 1B1 test
Marfan syndrome1 test
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections1 test
Marinesco-Sjögren syndrome1 test
Marshall-Smith syndrome1 test
MASS syndrome1 test
Maturity onset diabetes mellitus in young2 tests
Maturity-onset diabetes of the young type 11 test
Maturity-onset diabetes of the young type 101 test
Maturity-onset diabetes of the young type 111 test
Maturity-onset diabetes of the young type 22 tests
Maturity-onset diabetes of the young type 32 tests
Maturity-onset diabetes of the young type 61 test
McKusick-Kaufman syndrome1 test
Megalencephalic leukoencephalopathy with subcortical cysts1 test
Megalencephaly-capillary malformation-polymicrogyria syndrome1 test
Meier-Gorlin syndrome1 test
Meier-Gorlin syndrome 21 test
Meier-Gorlin syndrome 31 test
Meier-Gorlin syndrome 41 test
Meier-Gorlin syndrome 51 test
Melanoma, cutaneous malignant, susceptibility to, 11 test
Menkes kinky-hair syndrome1 test
Metabolic myopathy due to lactate transporter defect1 test
Metachondromatosis1 test
Metaphyseal chondrodysplasia, McKusick type1 test
Metaphyseal dysplasia without hypotrichosis1 test
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome1 test
Methylcrotonyl-CoA carboxylase deficiency2 tests
Mevalonic aciduria2 tests
Microcephalic osteodysplastic primordial dwarfism type II1 test
Microcephaly 6, primary, autosomal recessive1 test
Microcephaly 9, primary, autosomal recessive1 test
Microphthalmia1 test
Microvascular complications of diabetes, susceptibility to, 41 test
Migraine, familial hemiplegic, 31 test
Mowat-Wilson syndrome1 test
Moyamoya disease 51 test
Mucopolysaccharidosis, MPS-II1 test
Mucopolysaccharidosis, MPS-IV-A1 test
Multiple endocrine neoplasia, type 21 test
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA1 test
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB1 test
Multiple sclerosis, susceptibility to, 51 test
Multiple self-healing squamous epithelioma1 test
Multisystemic smooth muscle dysfunction syndrome1 test
Muscular dystrophy, limb-girdle, autosomal recessive 231 test
MYH7-related skeletal myopathy1 test
Myofibrillar myopathy 21 test
Myofibrillar myopathy 41 test
Myofibrillar myopathy 61 test
Myokymia 11 test
Myosin storage myopathy1 test
Nail-patella syndrome1 test
Nance-Horan syndrome1 test
Naxos disease1 test
Nemaline myopathy 21 test
Nemaline myopathy 51 test
Nemaline myopathy 61 test
Neonatal diabetes mellitus with congenital hypothyroidism1 test
Neoplasm of ovary3 tests
Neoplasm of stomach1 test
Nephrogenic syndrome of inappropriate antidiuresis1 test
Neurodegeneration with brain iron accumulation 2B1 test
Neuroferritinopathy1 test
Neurofibromatosis, familial spinal1 test
Neurofibromatosis, type 11 test
Neurofibromatosis, type 21 test
Neurofibromatosis-Noonan syndrome1 test
Neutropenia, severe congenital, 1, autosomal dominant2 tests
Neutropenia, severe congenital, 2, autosomal dominant1 test
Nonimmune chronic idiopathic neutropenia of adults1 test
Nonpapillary renal cell carcinoma1 test
Noonan syndrome1 test
Noonan syndrome 12 tests
Noonan syndrome 31 test
Noonan syndrome 41 test
Noonan syndrome 51 test
Noonan syndrome 61 test
Noonan syndrome 71 test
Obesity1 test
Obesity due to congenital leptin deficiency1 test
Obesity due to pro-opiomelanocortin deficiency1 test
Obsessive-compulsive disorder1 test
Ocular albinism, type I1 test
Oculootoradial syndrome1 test
Optic nerve hypoplasia and abnormalities of the central nervous system1 test
Ornithine carbamoyltransferase deficiency1 test
Orofaciodigital syndrome I1 test
Osteodysplastic primordial dwarfism, type 11 test
Osteogenesis imperfecta2 tests
Osteoglophonic dysplasia1 test
Paragangliomas 11 test
Paragangliomas 41 test
Parathyroid gland adenoma1 test
Parkinson disease1 test
Parkinsonian-pyramidal syndrome1 test
Paroxysmal extreme pain disorder1 test
Pelizaeus-Merzbacher disease1 test
Pendred syndrome1 test
Perlman syndrome1 test
Permanent neonatal diabetes mellitus5 tests
Peroxisome biogenesis disorder1 test
Pfeiffer syndrome1 test
Phenylketonuria1 test
Pheochromocytoma2 tests
Pigmentary pallidal degeneration1 test
Pitt-Hopkins syndrome1 test
Pituitary hormone deficiency, combined, 11 test
Pituitary hormone deficiency, combined, 21 test
Pituitary hormone deficiency, combined, 61 test
Poikiloderma with neutropenia1 test
POLG-related disorder1 test
Porokeratosis 3, disseminated superficial actinic type2 tests
Primary dilated cardiomyopathy12 tests
Primary erythromelalgia1 test
Primary familial hypertrophic cardiomyopathy2 tests
Primary hyperoxaluria, type I1 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 11 test
Progressive familial heart block type IB1 test
Progressive familial heart block, type 1A1 test
Progressive familial intrahepatic cholestasis2 tests
Progressive familial intrahepatic cholestasis type 21 test
Progressive familial intrahepatic cholestasis type 31 test
Progressive sclerosing poliodystrophy1 test
Prolidase deficiency1 test
Propionic acidemia2 tests
Proteus syndrome1 test
Protoporphyria, erythropoietic, 11 test
Pseudohypoaldosteronism type 2E1 test
Psoriatic arthritis, susceptibility to2 tests
Psychomotor retardation, epilepsy, and craniofacial dysmorphism1 test
PTEN hamartoma tumor syndrome1 test
Pulmonary hypertension, primary, 11 test
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome2 tests
Pyridoxal phosphate-responsive seizures1 test
Pyropoikilocytosis, hereditary1 test
Pyruvate dehydrogenase E3 deficiency1 test
Pyruvate kinase deficiency of red cells1 test
Rabson-Mendenhall syndrome1 test
Radial aplasia-thrombocytopenia syndrome1 test
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome1 test
Renal cysts and diabetes syndrome1 test
Renal hypodysplasia/aplasia 11 test
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations1 test
Rett syndrome2 tests
Rienhoff syndrome1 test
Rippling muscle disease 21 test
Rubinstein-Taybi syndrome1 test
Schizophrenia1 test
Schwannomatosis 11 test
Seborrheic keratosis1 test
Seckel syndrome 11 test
Seckel syndrome 21 test
Seckel syndrome 41 test
Seckel syndrome 51 test
Seckel syndrome 61 test
Seizures, benign familial infantile, 21 test
Seizures, benign familial neonatal, 31 test
Sengers syndrome1 test
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis1 test
Severe myoclonic epilepsy in infancy2 tests
Severe neonatal-onset encephalopathy with microcephaly1 test
Severe X-linked myotubular myopathy1 test
Short QT syndrome type 11 test
Short QT syndrome type 31 test
Short stature due to growth hormone qualitative anomaly1 test
Short stature due to partial GHR deficiency1 test
Shprintzen-Goldberg syndrome1 test
Shwachman-Diamond syndrome 11 test
Sick sinus syndrome 11 test
Sick sinus syndrome 2, autosomal dominant1 test
Sick sinus syndrome 3, susceptibility to1 test
Simpson-Golabi-Behmel syndrome type 11 test
Sitosterolemia2 tests
Sotos syndrome1 test
Spastic ataxia 41 test
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome1 test
Spinocerebellar ataxia type 19/221 test
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 21 test
Spondyloepiphyseal dysplasia tarda1 test
Squamous cell carcinoma of the head and neck1 test
Sterile multifocal osteomyelitis with periostitis and pustulosis1 test
Stiff skin syndrome1 test
SUDDEN INFANT DEATH SYNDROME2 tests
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C1 test
Symmetrical dyschromatosis of extremities1 test
Syndromic microphthalmia type 51 test
Syndromic X-linked intellectual disability Lubs type1 test
Systemic lupus erythematosus1 test
Tatton-Brown-Rahman overgrowth syndrome1 test
Telangiectasia, hereditary hemorrhagic, type 11 test
Telangiectasia, hereditary hemorrhagic, type 21 test
Testicular anomalies with or without congenital heart disease1 test
Tetralogy of Fallot2 tests
Thrombocytopenia 11 test
Thyroid cancer, nonmedullary, 21 test
TNF receptor-associated periodic fever syndrome (TRAPS)2 tests
Torsion dystonia 61 test
Townes-Brocks syndrome 11 test
Tracheoesophageal fistula1 test
Trichothiodystrophy 4, nonphotosensitive1 test
Trigonocephaly 11 test
Troyer syndrome1 test
Tuberous sclerosis 11 test
Tuberous sclerosis 21 test
Type 1 diabetes mellitus 21 test
Type 1 diabetes mellitus 201 test
Type 2 diabetes mellitus10 tests
Tyrosinemia type I1 test
Tyrosinemia type II1 test
Tyrosinemia type III1 test
Usher syndrome type 21 test
Usher syndrome, type 1D/F1 test
VACTERL with hydrocephalus1 test
Ventricular fibrillation, paroxysmal familial, type 11 test
Ventricular septal defect 11 test
Waardenburg syndrome type 4B1 test
Weaver syndrome1 test
Weill-Marchesani syndrome 2, dominant1 test
Wilms tumor 11 test
Wilson disease1 test
Wilson-Turner syndrome1 test
Wolfram syndrome1 test
Wolfram-like syndrome1 test
Woodhouse-Sakati syndrome1 test
X-linked agammaglobulinemia1 test
X-linked agammaglobulinemia with growth hormone deficiency1 test
X-linked intellectual disability-psychosis-macroorchidism syndrome1 test
X-linked lymphoproliferative disease due to SH2D1A deficiency1 test
X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency1 test
X-linked severe congenital neutropenia1 test

List of services

Clinical Testing/Confirmation of Mutations Identified Previously
Custom Sequence Analysis
Carrier testing
Result interpretation

List of certifications/licenses

Certifications

CLIAHelpCertification number assigned by the Clinical Laboratory Improvement Amendments (CLIA) program to the laboratory director. Minimal field for US labs offering clinical tests. Optional field for international labs or US labs performing research tests. If pending renewal or record has not been updated, the expiration date may be in the past., Number: 36D1001860, Expiration date: 2025-05-13

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.