Diagnosis of Lynch syndrome, an autosomal dominant cancer syndrome associated with germline variations in MLH1, MSH2, MSH6, PMS2, and/or EPCAM genes, is complex and requires several tests. This often leads to confusion over which test should be ordered and when.
HEREDITARY COLON CANCER TEST MENU
High-microsatellite instability (MSI) and/or defective-mismatch repair (MMR) are considered hallmark features of Lynch syndrome, and, while not diagnostic, results from MSI and MMR testing will identify patients for whom further testing, including germline sequencing, is appropriate. Our algorithmic approach aids with the ordering process and guides physicians to ensure the right tests are being ordered at the right time.
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