Why Choose the Division of Genomic Diagnostics

Serving patients at CHOP and around the world, our geneticists, genetic counselors, bioinformaticians and medical laboratory technologists use the latest technology to identify genomic alterations. The results from our testing give medical professionals the information they need to provide anticipatory guidance and genetic counseling to their patients and patients’ families.

The Division of Genomic Diagnostics is staffed by world-renowned experts. Working with our clinical specialists, we are able to offer unparalleled clinical interpretation ensuring the most accurate and precise diagnoses.

We are committed to translating advances in science into clinical practice by continuously developing and offering new and better testing options to our clients.


We have made key contributions to understanding of many disorders including Alagille syndrome, biliary atresia, Von Hippel Lindau disease, the genetics of Rhabdoid tumors, Pallister-Killian syndrome, ring chromosomes and we have unique experience in the identification of chromosomal mosaicism.


  • We pioneered the use of a SNP-based chromosome microarray test on cancer tissues in 2008.
  • We were first to introduce tests for a number of single gene disorders including Neuroblastoma (ALK), Blepharophimosis, Ptosis, and Epicanthus Inversus (FOXL2), Leiomyomatosis and Renal Cell Cancer (FH), Opitz GBBB (MID1), Von Hippel Lindau (VHL) syndromes.
  • We launched the first Next Generation Sequencing test for HLA typing in 2014.
  • We collaboratively developed an improved exome sequencing test targeting the Medical Exome with enhanced coverage of over 3,000 clinically relevant genes.
  • Our SNP-based chromosome microarray test has unique abilities to detect low level mosaicism and we are experts in determination of mosaic mechanisms and identification of uniparental disomy, regions of homozygosity and chimerism.  

Roberts Individualized Medical Genetics Center (IMGC)

The Roberts Individualized Medical Genetics Center (IMGC) is a clinical center that has partnered with our Division to provide clinical interpretation, education and consent for families undergoing complex genetic testing. The center bridges pediatrics and pathology to facilitate utilization of genomic test results.