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
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
- Lindsey Mighion
- Elyse Ryan, Genetic Counselor
Phone: 215-573-9161
Email: elyse.ryan@pennmedicine.upenn.edu
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 68
Gene
Gene | Submissions | Last Updated |
---|---|---|
RB1 | 68 | Apr 11, 2014 |
Condition
Name | Submissions | Last Updated |
---|---|---|
Retinoblastoma | 68 | Apr 11, 2014 |
Testing in GTR
Disease name | Number of tests |
---|---|
11p partial monosomy syndrome | 1 test |
BAP1-related tumor predisposition syndrome | 1 test |
Beckwith-Wiedemann syndrome | 2 tests |
CLAPO syndrome | 1 test |
CLOVES syndrome | 2 tests |
Cardiofaciocutaneous syndrome 1 | 1 test |
Cardiofaciocutaneous syndrome 2 | 1 test |
Cardiofaciocutaneous syndrome 3 | 1 test |
Cardiofaciocutaneous syndrome 4 | 1 test |
Congenital macrodactylia | 1 test |
Costello syndrome | 1 test |
Exercise-induced hyperinsulinism | 1 test |
Familial hyperinsulinism | 2 tests |
Hemihypertrophy | 1 test |
Hemophilia | 2 tests |
Hemophilia B leyden | 1 test |
Hennekam lymphangiectasia-lymphedema syndrome | 1 test |
Hereditary factor IX deficiency disease | 1 test |
Hereditary factor VIII deficiency disease | 1 test |
Hyperinsulinemic hypoglycemia, familial, 1 | 2 tests |
Hyperinsulinemic hypoglycemia, familial, 2 | 2 tests |
Hyperinsulinemic hypoglycemia, familial, 4 | 1 test |
Hyperinsulinism due to glucokinase deficiency | 2 tests |
Hyperinsulinism-hyperammonemia syndrome | 2 tests |
IMAGe syndrome | 1 test |
Insulin-resistant diabetes mellitus AND acanthosis nigricans | 1 test |
Juvenile myelomonocytic leukemia | 1 test |
Maturity-onset diabetes of the young type 1 | 1 test |
Maturity-onset diabetes of the young type 10 | 1 test |
Maturity-onset diabetes of the young type 11 | 1 test |
Maturity-onset diabetes of the young type 13 | 1 test |
Maturity-onset diabetes of the young type 2 | 1 test |
Maturity-onset diabetes of the young type 3 | 1 test |
Maturity-onset diabetes of the young type 4 | 1 test |
Maturity-onset diabetes of the young type 6 | 1 test |
Maturity-onset diabetes of the young type 7 | 1 test |
Maturity-onset diabetes of the young type 8 | 1 test |
Maturity-onset diabetes of the young type 9 | 1 test |
Megalencephaly, autosomal dominant | 1 test |
Megalencephaly-capillary malformation-polymicrogyria syndrome | 1 test |
Melanoma, uveal, susceptibility to, 1 | 1 test |
Melanoma, uveal, susceptibility to, 2 | 1 test |
Mesothelioma | 1 test |
Noonan syndrome | 1 test |
Noonan syndrome with multiple lentigines | 1 test |
Noonan syndrome-like disorder with loose anagen hair 1 | 1 test |
Overgrowth syndrome | 1 test |
PEHO syndrome | 1 test |
PIK3CA related overgrowth syndrome | 1 test |
Permanent neonatal diabetes mellitus | 1 test |
Primary lymphedema | 1 test |
Progressive myositis ossificans | 1 test |
Proteus syndrome | 1 test |
Qualitative or quantitative defects of dystrophin | 1 test |
RASopathy | 1 test |
Renal cysts and diabetes syndrome | 1 test |
Retinoblastoma | 1 test |
Silver-Russell syndrome 1 | 1 test |
Silver-Russell syndrome due to an imprinting defect of 11p15 | 1 test |
Sturge-Weber syndrome | 1 test |
Telangiectasia, hereditary hemorrhagic, type 1 | 1 test |
Telangiectasia, hereditary hemorrhagic, type 2 | 1 test |
X-linked ichthyosis with steryl-sulfatase deficiency | 1 test |