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Genetic Diagnostic Laboratory (University of Pennsylvania School of Medicine)

General information

Genetic Diagnostic Laboratory
University of Pennsylvania School of Medicine
560 Clinical Research Building
415 Curie Boulevard
Philadelphia
Pennsylvania
United States - 19104
https://genetics.med.upenn.edu/cores/genetic-diagnostic-laboratory/
Organization ID: 1224

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 459

Gene

GeneSubmissionsLast Updated
RB1459May 29, 2024
RB1-DT1May 29, 2024

Condition

NameSubmissionsLast Updated
Retinoblastoma459May 29, 2024

Testing in GTR

Disease nameNumber of tests
11p partial monosomy syndrome1 test
BAP1-related tumor predisposition syndrome1 test
Beckwith-Wiedemann syndrome2 tests
CLAPO syndrome1 test
CLOVES syndrome2 tests
Cardiofaciocutaneous syndrome 11 test
Cardiofaciocutaneous syndrome 21 test
Cardiofaciocutaneous syndrome 31 test
Cardiofaciocutaneous syndrome 41 test
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, 32 tests
Hyperinsulinemic hypoglycemia, familial, 41 test
Hyperinsulinism-hyperammonemia syndrome2 tests
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
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin1 test
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
PIK3CA related overgrowth syndrome1 test
Permanent neonatal diabetes mellitus1 test
Primary lymphedema1 test
Proteus syndrome1 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