Genetic Testing for Lynch Syndrome and Other Inherited Colon Cancer Syndromes
Already effective 10/01/2026: ICD-10 diagnosis code QA1.71 was added for Lynch syndrome. Genetic testing of the APC gene may be considered medically necessary for at-risk relatives of individuals with familial adenomatous polyposis or a known APC variant, and for individuals with a differential diagnosis of attenuated FAP, MUTYH-associated polyposis, or Lynch syndrome. Genetic testing of MMR genes (MLH1, MSH2, MSH6, PMS2) may be considered medically necessary for individuals with colorectal or endometrial cancer whose tumor testing suggests germline MMR deficiency or who meet clinical criteria for Lynch syndrome, and for individuals without cancer who meet the Amsterdam or Revised Bethesda criteria or have a 5% or higher predicted risk on a validated risk prediction model when no affected family members have been tested. Testing for germline APC, MUTYH, MMR, EPCAM, SMAD4, BMPR1A, and STK11 variants for inherited colorectal cancer syndromes is considered investigational in all other situations.