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GTR Home > Laboratories > DDC Clinic Molecular Diagnostics Laboratory

DDC Clinic Molecular Diagnostics Laboratory

  • DDC Clinic Molecular Diagnostics Laboratory, DDC Clinic Lab
  • DDC Clinic, Center for Special Needs Children (DDC)
  • 14567 Madison Road
  • Middlefield, Ohio, United States 44062
  • Phone: 440-632-5532
    Fax: 440-632-1697
    Email: lab@DDCclinic.org
  • Website: http://DDCcliniclab.org/

GTR Lab ID: 505371, Last updated:2024-02-05

Personnel

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

Conditions and tests

  • 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
  • Age related macular degeneration 51 test
  • Aicardi-Goutieres syndrome 11 test
  • Aicardi-Goutieres syndrome 21 test
  • Aicardi-Goutieres syndrome 31 test
  • Aicardi-Goutieres syndrome 41 test
  • Aicardi-Goutieres syndrome 52 tests
  • 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
  • Amyloidogenic transthyretin amyloidosis1 test
  • Anauxetic dysplasia 12 tests
  • Andersen Tawil syndrome1 test
  • Aneurysm-osteoarthritis syndrome1 test
  • Angelman syndrome3 tests
  • Angelman syndrome-like2 tests
  • 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, 31 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, 151 test
  • Autism, susceptibility to, X-linked 32 tests
  • Autoimmune lymphoproliferative syndrome type 11 test
  • Autoimmune lymphoproliferative syndrome type 41 test
  • Autosomal dominant distal renal tubular acidosis1 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
  • Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency1 test
  • Bannayan-Riley-Ruvalcaba syndrome1 test
  • Bardet-Biedl syndrome1 test
  • Bardet-Biedl syndrome 61 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 syndrome2 tests
  • Benign recurrent intrahepatic cholestasis type 12 tests
  • Benign recurrent intrahepatic cholestasis type 21 test
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy1 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
  • Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders1 test
  • 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
  • Cerebrooculofacioskeletal syndrome 11 test
  • Charcot-Marie-Tooth disease axonal type 2K2 tests
  • Charcot-Marie-Tooth disease recessive intermediate A2 tests
  • Charcot-Marie-Tooth disease type 2B11 test
  • Charcot-Marie-Tooth disease type 4A2 tests
  • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive2 tests
  • Charcot-Marie-Tooth disease, type IA1 test
  • CHARGE association1 test
  • Chilblain lupus 11 test
  • Chilblain lupus 22 tests
  • 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 22 tests
  • Coffin-Lowry syndrome1 test
  • Cohen syndrome2 tests
  • Combined immunodeficiency due to partial RAG1 deficiency1 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 malabsorption2 tests
  • Congenital long QT syndrome2 tests
  • 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 syndrome2 tests
  • Costello syndrome1 test
  • Cowden syndrome1 test
  • Cowden syndrome 11 test
  • Cowden syndrome 31 test
  • Cowden syndrome 51 test
  • Cowden syndrome 61 test
  • Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 12 tests
  • Creatine transporter deficiency1 test
  • Crigler-Najjar syndrome2 tests
  • Crigler-Najjar syndrome, type II1 test
  • Cutaneous porphyria1 test
  • Cyclical neutropenia2 tests
  • Cystinosis1 test
  • De Lange syndrome2 tests
  • DE SANCTIS-CACCHIONE SYNDROME1 test
  • 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, 22 tests
  • 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
  • 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 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 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
  • Fasting plasma glucose level quantitative trait locus 11 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 IA2 tests
  • 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 11 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 42 tests
  • 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
  • Histiocytic medullary reticulosis2 tests
  • Holoprosencephaly 71 test
  • Holt-Oram syndrome1 test
  • Hutchinson-Gilford syndrome1 test
  • Hyper-IgM syndrome type 11 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 42 tests
  • 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 degeneration2 tests
  • Hypothyroidism due to TSH receptor mutations1 test
  • Hypothyroidism, congenital, nongoitrous, 21 test
  • Immunodeficiency 1043 tests
  • Immunodeficiency 18, severe combined immunodeficiency variant1 test
  • Immunodeficiency 191 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 syndrome2 tests
  • 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
  • Left ventricular noncompaction 101 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 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 carcinoma3 tests
  • Lysinuric protein intolerance1 test
  • Macrocephaly-autism syndrome1 test
  • Macrocephaly-developmental delay syndrome1 test
  • Majeed syndrome2 tests
  • Malan overgrowth syndrome1 test
  • Malaria, susceptibility to1 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 syndrome2 tests
  • 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 type2 tests
  • Metaphyseal dysplasia without hypotrichosis2 tests
  • 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 2a1 test
  • Multiple endocrine neoplasia, type 2b1 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 52 tests
  • 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 12 tests
  • 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
  • Phenylketonuria2 tests
  • Pheochromocytoma2 tests
  • Pigmentary pallidal degeneration2 tests
  • 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 disorders1 test
  • Porokeratosis 3, disseminated superficial actinic type2 tests
  • Porphyria cutanea tarda1 test
  • Primary dilated cardiomyopathy13 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 deficiency2 tests
  • Propionic acidemia3 tests
  • Proteus syndrome1 test
  • Protoporphyria, erythropoietic, 11 test
  • Pseudohypoaldosteronism type 2E1 test
  • Psoriatic arthritis, susceptibility to2 tests
  • Psychomotor retardation, epilepsy, and craniofacial dysmorphism2 tests
  • 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 cells2 tests
  • Pyruvate kinase hyperactivity1 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
  • Renal tubular acidosis, distal, 4, with hemolytic anemia1 test
  • Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations1 test
  • Rett syndrome3 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 combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency1 test
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive2 tests
  • Severe myoclonic epilepsy in infancy2 tests
  • Severe neonatal-onset encephalopathy with microcephaly2 tests
  • Severe X-linked myotubular myopathy1 test
  • Short QT syndrome type 11 test
  • Short QT syndrome type 21 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 42 tests
  • 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
  • T-B+ severe combined immunodeficiency due to JAK3 deficiency1 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 62 tests
  • Townes-Brocks syndrome 11 test
  • Tracheoesophageal fistula1 test
  • Trichothiodystrophy 4, nonphotosensitive2 tests
  • Trigonocephaly 11 test
  • Troyer syndrome2 tests
  • 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
  • UV-sensitive syndrome 11 test
  • VACTERL with hydrocephalus1 test
  • Variegate porphyria1 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 syndrome2 tests
  • X-linked lymphoproliferative disease due to SH2D1A deficiency1 test
  • X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency1 test
  • X-linked severe combined immunodeficiency1 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

  • CLIAHelp, 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.