Familial Adenomatous Polyposis, Li Fraumeni, and Lynch syndrome


The Genetic Diagnostic Laboratory no longer performs full sequencing of the following genes: APC, MYH, TP53, MLH1, MSH2 and MSH6. Site specific analysis for these genes is still available for family members of individuals who previously had testing at our laboratory.

*Please open the forms in Adobe Acrobat before printing.

Billing Information and Turnaround Time

Name of Test Turnaround Time Cost CPT Codes
Site Specific Analysis of APC 2-3 weeks $360 81202
Site Specific Analysis of TP53 2-3 weeks $360 81403
Site Specific Analysis MLH1 2-3 weeks $360 81293
Site Specific Analysis of MSH2 2-3 weeks $360 81296
Site Specific Analysis of MSH6 2-3 weeks $360 81298

Sample Requirements

  • We require 2 EDTA tubes (lavender top) of blood - approximately 4 mL per tube
  • For a newborn sample, obtain 2 EDTA tube (lavender top) of blood - approximately 1-2 mL per tube
  • Label each tube with the patientís name, date sample was obtained, and patientís date of birth
  • We accept banked or recently extracted DNA; please include the concentration. Please call the laboratory to inquire about the amount needed for testing.

Please see our prenatal section for information on prenatal requirements.

Shipping Instructions

Shipping Sample: Ship at room temperature via Federal Express or other overnight courier that guarantees AM delivery to arrive Monday-Friday. There is no one in the laboratory evenings and weekends to receive samples. If sample is drawn on a Friday, please refrigerate it until shipment on the following business day.

Shipping Address:
Genetic Diagnostic Laboratory
University of Pennsylvania
415 Anatomy–Chemistry Building
3620 Hamilton Walk
Philadelphia, PA 19104

Additional Information


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