DDC Clinic Molecular Diagnostics Laboratory

Personnel

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

Conditions and tests

64 conditions/phenotypes with 56 tests
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Aicardi-Goutieres syndrome 51 test
Alpha-1-antitrypsin deficiency1 test
Anauxetic dysplasia 11 test
Autosomal recessive osteopetrosis1 test
Benign recurrent intrahepatic cholestasis type 11 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 4A1 test
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive1 test
Chilblain lupus 21 test
Cockayne syndrome type 21 test
Cohen syndrome1 test
Congenital glucose-galactose malabsorption1 test
Cortical dysplasia-focal epilepsy syndrome1 test
Crigler-Najjar syndrome1 test
Cystic fibrosis1 test
Deafness1 test
Developmental and epileptic encephalopathy, 251 test
Developmental delay with autism spectrum disorder and gait instability1 test
Dilated cardiomyopathy 1G1 test
DSP-related Dilated cardiomyopathy1 test
Ectopia lentis 2, isolated, autosomal recessive1 test
Epilepsy, familial focal, with variable foci 31 test
Familial hemiplegic migraine1 test
Galloway-Mowat syndrome 11 test
Gastrointestinal defects and immunodeficiency syndrome 21 test
Gitelman Syndrome (SLC12A3) AKA Primary Hypomagnesemia-Hypokalemia1 test
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1 test
GM3 synthase deficiency1 test
Hemochromatosis type 11 test
Hereditary factor IX deficiency disease1 test
Hereditary spastic paraplegia 261 test
Hereditary spherocytosis type 41 test
Hermansky-Pudlak syndrome 11 test
High myopia-sensorineural deafness syndrome1 test
Hypertrophic cardiomyopathy 41 test
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration1 test
Intellectual developmental disorder and retinitis pigmentosa; IDDRP1 test
Jalili syndrome1 test
Jervell and Lange-Nielsen syndrome2 tests
Long QT syndrome 11 test
Macrocephaly-developmental delay syndrome1 test
Mast syndrome (SPG21)1 test
McKusick-Kaufman syndrome1 test
Metaphyseal chondrodysplasia, McKusick type1 test
Metaphyseal dysplasia without hypotrichosis1 test
Nemaline myopathy 51 test
Oculocutaneous albinism type 1B1 test
Odonto-onycho-dermal dysplasia1 test
Osteodysplastic primordial dwarfism, type 11 test
Osteogenesis Imperfecta-14 (TMEM38B)1 test
Phenylketonuria1 test
Pigmentary pallidal degeneration1 test
Primary ciliary dyskinesia 51 test
Progressive familial intrahepatic cholestasis1 test
Prolidase deficiency1 test
Propionic acidemia1 test
Psychomotor retardation, epilepsy, and craniofacial dysmorphism1 test
Pyruvate kinase deficiency of red cells1 test
Spastic ataxia 41 test
Torsion dystonia 61 test
Trichothiodystrophy 4, nonphotosensitive1 test
Troyer syndrome1 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.