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Blue Cross & Blue Shield of MississippiAll Plans · Billing Codes · Medical Policy · Genetics, Oncology, Gastroenterology +1 moreMedium impact

Genetic Testing for Lynch Syndrome and Other Inherited Colon Cancer Syndromes

Effective date
Oct 1, 2026
Identified
Jun 20, 2026

Summary

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.

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What to do

Action · 6 steps
01Already effective 10/01/2026: Confirm that the Lynch syndrome diagnosis on claims uses ICD-10 diagnosis code QA1.71, which the source added on that date.
02Billing team: Before billing MMR gene testing, document one of the criteria the source lists, such as colorectal or endometrial cancer with tumor testing suggesting germline MMR deficiency or clinical criteria for Lynch syndrome, an at-risk relative of an individual with a known pathogenic or likely pathogenic MMR variant, Amsterdam or Revised Bethesda criteria, or a 5% or higher predicted risk on a validated model (MMRpro, PREMM5 or MMRpredict) when no affected family members have been tested for MMR variants.
03MMR sequencing begins with MLH1 and MSH2 unless the IHC results direct otherwise.
04Standard sequencing does not detect large deletions or duplications, so additional testing for them is appropriate when MMR variants are expected but none are found.
05Pre- and post-test genetic counseling may be considered medically necessary as an adjunct to the genetic testing itself.
06Germline testing of APC, MUTYH, MMR, EPCAM, SMAD4, BMPR1A, and STK11 variants outside the criteria in this policy is investigational.

Codes mentioned

8120181202812038121081288813018140381435C19D01.0D01.1D01.2D13.91K63.5Z80.0Z83.710Z83.711Z83.718Z83.719Z83.72Z85.038Z85.048Z86.010Z86.0100Z86.0101Z86.0102Z86.0109

Original notice

Genetic Testing for Lynch Syndrome and Other Inherited Colon Cancer Syndromes
bcbsms.com · Always check the source before changing claims.
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