Genetic Diagnostic Laboratory


Due to challenging circumstances with respect to Coronavirus, and specific directives from the University of Pennsylvania School of Medicine on “Social Distancing”, the Genetic Diagnostic Laboratory (GDL) will be operating with reduced staff until further notice. This is to ensure minimum overlap in work space and schedule. Consequently, turnaround times will likely be adversely affected. We apologize in advance for these delays.

Staff will be on-site to receive and process samples if they are already in the process of being sent. However, it is strongly recommended that if it can wait, future samples be stored at an appropriate temperature and then sent to us once we have resumed normal operations.

With respect to prenatal samples and our Level 1 Expedited Congenital Hyperinsulinism Panel, or other urgent cases, please call the laboratory at 215-573- 9161 to give us advance notice to ensure appropriate staff will be available to process the sample.

If you have any questions, please call 215 573 9161, or, 215 573 3020, or, 215 898 3122 (Arupa Ganguly, PhD).

Stay safe and do your part.

Hope this phase is over soon.

Arupa Ganguly, PhD
On behalf of the Genetic Diagnostic Laboratory
March 17, 2020

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 2020 holidays (We will not be open to receive samples)

  • January 20, 2020 (MLK Jr Day)
  • May 25, 2020 (Memorial Day)
  • July 3, 2020 (Observation of Independence Day)
  • September 7, 2020 (Labor Day)
  • November 26 & 27, 2020 (Thanksgiving Holiday)
  • December 24, 2020* (Christmas Eve)
  • December 25, 2020 (Christmas Day)
  • December 31, 2020* (New Year’s Eve)
  • January 1, 2021 (New Year’s Day)

*the lab is closing early, samples must be received by 10:30am*

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