This test is performed by sequencing the entire EPCAM, MLH1, MSH2, MSH6 and PMS2 genes using next-gen sequencing complemented by conventional Sanger sequencing or other molecular methodologies to detect point mutations, small insertions/deletions, and large deletions/duplications. Testing may be ordered for individual genes. Note: Patient and physician or genetic counselor signatures on the NeoGenomics Consent for Hereditary Cancer Genetic Testing form are required. Testing will be put on hold until signatures are received.
Lynch Syndrome is a hereditary cancer syndrome with prevalence of approximately 1 in 440 people. It is estimated to account for 1-3% of all colorectal cancer and up to 2% of all endometrial cancer cases. Patients are at increased risk for these tumors as well as those of the stomach, ovary, hepatobiliary tract, urinary tract, small intestine, brain, pancreas, prostate, and skin (sebaceous neoplasms). Lynch Syndrome is due to germline mutations of mismatch repair genes including MLH1 (responsible for ~50% of Lynch Syndrome), MSH2 (~40%), MSH6 (7-10%), PMS2 (~5%) and partial deletions of EPCAM (1-3%) which inactivate the MSH2 gene. Consideration of germline mutation testing is appropriate when tumor testing has identified mismatch repair defects and/or microsatellite instability, and for various other personal and family history indications as described by current guidelines.
Peripheral blood: 5 mL in EDTA tube.
Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Ship same day as drawn whenever possible; specimens <72 hours old preferred.