Genetic Diagnostic Laboratory

Genetic Diagnostic Laboratory, GDL
University of Pennsylvania School of Medicine (Penn)
Department: Dept. of Genetics
560 Clinical Research Building, 415 Curie Boulevard
Philadelphia, Pennsylvania, United States 19104
Phone: 215-573-9161
Fax: 215-573-5940
Email: gdllab@pennmedicine.upenn.edu
Website: https://genetics.med.upenn.edu/cores/genetic-diagnostic-laboratory/
Affiliated with:
- University of Pennsylvania

Submissions in ClinVar
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GTR Lab ID: 1224, Last updated:2024-05-30

Personnel

Director: Arupa Ganguly, PhD, ABMGG Board Certified, Diplomate of the American Board of Medica, Lab Director
Phone: 215-898-3122
Fax: 215-573-5940
Email: gdllab@pennmedicine.upenn.edu

Conditions and tests

64 conditions/phenotypes with 18 tests
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11p partial monosomy syndrome1 test
BAP1-related tumor predisposition syndrome1 test
Beckwith-Wiedemann syndrome2 tests
Cardiofaciocutaneous syndrome 11 test
Cardiofaciocutaneous syndrome 21 test
Cardiofaciocutaneous syndrome 31 test
Cardiofaciocutaneous syndrome 41 test
CLAPO syndrome1 test
CLOVES syndrome2 tests
Congenital isolated hyperinsulinism1 test
Congenital macrodactylia1 test
Costello syndrome1 test
Exercise-induced hyperinsulinism1 test
Familial hyperinsulinism3 tests
Hemihypertrophy1 test
Hemophilia2 tests
Hemophilia B leyden1 test
Hennekam lymphangiectasia-lymphedema syndrome1 test
Hereditary factor IX deficiency disease1 test
Hereditary factor VIII deficiency disease1 test
Hyperinsulinemic hypoglycemia, familial, 12 tests
Hyperinsulinemic hypoglycemia, familial, 41 test
Hyperinsulinism due to glucokinase deficiency2 tests
Hyperinsulinism-hyperammonemia syndrome2 tests
IMAGe syndrome1 test
Insulin-resistant diabetes mellitus AND acanthosis nigricans1 test
Juvenile myelomonocytic leukemia1 test
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 131 test
Maturity-onset diabetes of the young type 21 test
Maturity-onset diabetes of the young type 31 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 91 test
Megalencephaly, autosomal dominant1 test
Megalencephaly-capillary malformation-polymicrogyria syndrome1 test
Melanoma, uveal, susceptibility to, 11 test
Melanoma, uveal, susceptibility to, 21 test
Mesothelioma1 test
Nesidioblastosis2 tests
Noonan syndrome1 test
Noonan syndrome with multiple lentigines1 test
Noonan syndrome-like disorder with loose anagen hair 11 test
Overgrowth syndrome1 test
PEHO syndrome1 test
Permanent neonatal diabetes mellitus1 test
PIK3CA related overgrowth syndrome1 test
Primary lymphedema1 test
Progressive myositis ossificans1 test
Proteus syndrome1 test
Qualitative or quantitative defects of dystrophin1 test
RASopathy1 test
Renal cysts and diabetes syndrome1 test
Retinoblastoma1 test
Silver-Russell syndrome 11 test
Silver-Russell syndrome due to an imprinting defect of 11p151 test
Sturge-Weber syndrome1 test
Telangiectasia, hereditary hemorrhagic, type 11 test
Telangiectasia, hereditary hemorrhagic, type 21 test
X-linked ichthyosis with steryl-sulfatase deficiency1 test

List of services

Clinical Testing/Confirmation of Mutations Identified Previously
Mutation Confirmation
X-Chromosome Inactivation Studies
Prenatal testing for diseases on our test menu, comments
Prenatal testing for diseases on our test menu

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: 39D0893887, Expiration date: 2025-02-13

Licenses

CA - California Department of Public Health CDPH, Number: COS 00800228, Expiration date: 2025-02-01
MD - Maryland Department of Health and Mental Hygiene DHMH, Number: 1863, Effective date: 2018-07-01 Non-expiring
PA - Pennsylvania Department of Health PADOH, Number: 23148A, Expiration date: 2024-08-15

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.