Genetic Diagnostic Laboratory


ATTENTION! The Genetic Diagnostic Laboratory will be relocating the week of September 27, 2021-October 1, 2021. Samples may experience a delay in turnaround time of up to one week as a result.

Please note our new address beginning October 4th, 2021:
Genetic Diagnostic Laboratory
University of Pennsylvania
560 Clinical Research Building
415 Curie Boulevard
Philadelphia, PA, 19104

The Genetic Diagnostic Laboratory is a non–profit laboratory at the University of Pennsylvania.

Established in 1994, the Genetic Diagnostic Laboratory has had the pleasure to serve patients, physicians, and other members of the medical and research community in many states in the U.S., as well as in over 24 countries worldwide. Our mission is to evaluate an individual’s DNA to discover a genetic cause for their disease or physical symptoms, provide interpretation of the genetic finding and its association with disease, develop new methods for analyzing genes, and introduce new testing to improve patient care. The Genetic Diagnostic Laboratory is CLIA certified and has state permits for California and Maryland. The staff of the Genetic Diagnostic Laboratory includes highly trained and experienced laboratory technicians, as well as a genetic counselor, who work continually to provide their services in a timely and professional manner.

PLEASE NOTE that as of March 1, 2020 our Somatic Overgrowth Gene Analysis Panel will be upgraded to include 27 additional genes (OVGv3). The current version of our Somatic Overgrowth Panel (OVGv2) will no longer be offered as of this date. Due to technical limitations, analysis of the PIK3CA gene will no longer be available as a stand-alone test. Please be aware that while the CPT code will remain 81479, the cost will now be $3000 and will include analysis of two specimen samples. Contact the lab with any questions.

As of September 1, 2019 we no longer offer Familial Mutation Testing for Familial Adenomatous Polyposis (APC), Li Fraumeni Syndrome (TP53), or Lynch Syndrome (MYH, MLH1, MSH2, MSH6). As of February 1, 2020 we no longer offer the Uveal Melanoma Related Gene Panel (GNAQ, GNA11, and BAP1) or the Somatic Analysis of GNAQ and GNA11. These genes are available for analysis on other testing panels. Please contact the lab with any questions.

Click here for CURRENT prices and CPT codes

The laboratory will be CLOSED on the following 2021 holidays (We will not be open to receive samples)

  • January 18, 2021 (MLK Jr Day)
  • May 31, 2021 (Memorial Day)
  • July 5, 2021 (Observation of Independence Day)
  • September 6, 2021 (Labor Day)
  • November 25 & 26, 2021 (Thanksgiving Holiday)
  • December 24, 2021 (Christmas Eve)
  • December 25, 2021 (Christmas Day)
  • December 31, 2021 (New Year’s Eve)
  • January 1, 2022 (New Year’s Day)

If blood samples are drawn during this time, please refrigerate and send once the lab reopens. Thank you!