This test is performed by sequencing the entire EPCAM gene 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 is also available in the Lynch Syndrome panel which includes EPCAM, MLH1, MSH2, MSH6, and PMS2. 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.
EPCAM gene deletions can result in loss of expression of the adjacent MHS2 gene. Such EPCAM deletions account for approximately 1-3% of Lynch Syndrome cases. Testing for mutations in a single Lynch Syndrome-related gene is appropriate when mismatch repair and/or microsatellite instability testing in a patient's tumor has suggested which gene may be mutated, or if there are other personal or family history indications pointing to a particular gene.
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.