Division of Genomic Diagnostics

The Division of Genomic Diagnostics (DGD) provides a wide spectrum of testing for genetic conditions, cancer diagnosis and treatment, and histocompatibility and immunogenetics. Our testing ranges from genome wide analyses, such as cytogenetics, chromosomal microarray analysis and exome sequencing to more targeted testing, including HLA typing, fluorescence in situ hybridization (FISH), gene panels and single gene testing.

We offer testing on more than 10 different types of samples and employ more than 10 distinct testing technologies. Our testing focuses on three main areas: constitutional genomic testing, cancer genomic testing, and immunogenetics testing.

Constitutional genomic testing

We provide genetic and genomic diagnostic testing for congenital and/or developmental disorders using genetic material extracted from blood, fibroblast tissue, saliva, products of conception, buccal swabs and other tissues as needed. In addition to cytogenetics, chromosomal microarray and exome sequencing, we offer testing for an extensive list of single gene disorders and next generation sequencing panels. This comprehensive testing combined with our precise and in depth interpretation provides the information needed for diagnosis, management and recurrence risk assessment for families with rare genetic disorders.

Cancer genomic testing

We offer comprehensive cytogenetic and molecular testing for patients with hematologic malignancies, solid tumors, and cancer predisposition conditions. The cancer genetics testing offered by the DGD facilitates diagnosis, prognosis, monitoring of residual disease after treatment, and provides information for cancer risk assessment. Test offerings include karyotype, chromosome array, FISH, next generation sequencing panels, cancer transcriptome analysis (RNA sequencing), and single-gene testing on tumor and/or constitutional samples.

View our series of hereditary and somatic cancer gene panels.

Immunogenetics testing

Our Immunogenetics Laboratory supports CHOP’s world-renowned Transplant Center and clients across the country by working closely with transplant clinicians to provide thoughtful and timely support for pre- and post-transplant management of care. We provide comprehensive testing for use in solid organ or bone marrow transplantation, drug development, clinical trials, and HLA disease association. Test offerings include HLA typing by next generation sequencing, HLA antibody screening, crossmatching, and engraftment monitoring.

Requisition forms

Access the list of Genomic Diagnostics Requisition Forms.


Genomic Diagnostic Laboratory
Abramson Research Center, Room 714
Children’s Hospital of Philadelphia
3615 Civic Center Blvd.
Philadelphia, PA 19104-4302


9 a.m. – 5 p.m. Eastern time

Are you a provider shipping a sample to us?

Delivery Monday-Friday:

ATTN: Genomic Diagnostic Laboratory | STAT LAB SPECIMEN
Abramson Research Center, Room 714J
Children’s Hospital of Philadelphia
3615 Civic Center Blvd.
Philadelphia, PA 19104-4302

Delivery Saturday - Sunday:

ATTN: Central Laboratory Services | STAT LAB SPECIMEN
Room 5188, Main Hospital
Children’s Hospital of Philadelphia
34th & Civic Center Blvd.
Philadelphia, PA 19104-4302

All shipment tracking information must be sent to SpecimenTracking@CHOP.edu.

CHOP Genetic Test Utilization

For CHOP clinicians with questions regarding genetic test utilization, please e-mail genetictestreview@chop.edu.