Genetic Testing for Lynch Syndrome
L34912
This LCD covers a stepped approach to Lynch syndrome testing: tumor-based IHC and/or MSI screening for colorectal cancer diagnosed ≤70 years (and >70 if meeting revised Bethesda) and for endometrial cancer, followed by BRAF and MLH1 promoter methylation testing when MLH1 loss is present, and targeted germ-line MMR (MLH1, MSH2, MSH6, PMS2) and EpCAM testing guided by tumor results. Germ-line panel testing or blood-based testing is allowed in specified exceptions (e.g., tumor unavailable or discordant IHC/MSI results), while carrier testing, universal population-based tumor screening, and molecular testing for cancers other than colorectal or endometrial are not covered.
"IHC and/or MSI tumor testing is covered for all individuals with colorectal cancer diagnosed at age ≤70 years, and for individuals >70 years who meet the revised Bethesda guidelines."
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