Genomic Diagnostic Laboratory, Division of Genomic Diagnostics
- Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, GDL
- Children's Hospital of Philadelphia (CHOP)
- Department: Pathology & Laboratory Medicine
- 3615 Civic Center Blvd, Abramson Research Center, 714J
- Philadelphia, Pennsylvania, United States 19104
- Phone: 267-426-1447 (U.S.A.)
Fax: 215-590-3514 (U.S.A.)
Email: DGDGeneticCounselor@chop.edu - Website: http://www.chop.edu/centers-programs/division-genomic-diagnostics
GTR Lab ID: 165021, Last updated:2024-09-13
Personnel
- Director: Marilyn Li, MD, Lab Director
- Director: Nancy Spinner, PhD, Lab Director
- Colleen Campbell, MS, CGC, Certified Genetic counselor, CGC, Lab Associate Director
Phone: 267-426-1447
Fax: 215-590-3514
Email: campbellcd@chop.edu - DGD GeneticCounselor, Genetic Counselor
Email: DGDGeneticCounselor@chop.edu
Conditions and tests
List of services
- Genetic counseling
- Custom microarray analysis: Order Code: Chromosomal SNP Microarray (COARY)
- DNA extraction: Order Code: DNA extraction (DNAO)
- Whole Exome Sequencing: Order Code:
Medical exome (EGPRO; EGFAM for family members), commentsExome tests available include: CHOP medical exome (EGPRO; EGFAM for family members); Exome reanalysis for CHOP medical exomes (WESRE,EGSRE); CHOP medical exome after panel (EGSPR)
- RNA extraction: Order Code: RNA extraction (RNAO)
- Clinical Testing/Confirmation of Mutations Identified Previously: Order Code:
Sequencing known variant testing (SEQKC), commentsTesting for known mitochondrial DNA variants
- Confirmation of research findings: Order Code: Sequencing known variant testing (SEQKC)
- Cryopreservation: Order Code: Thaw and expansion (CTHAW)
- Tissue culture: Order Code: Tissue Culture and Storage (fibroblast) (GROWC)
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: 39D0198678, Expiration date: 2025-02-27
- CAP, Number: 1319201, Expiration date: 2026-04-11
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.