Genetic Testing for Li-Fraumeni Syndrome
Genetic testing for TP53 may be considered medically necessary to confirm Li-Fraumeni syndrome in individuals who meet the classic or Chompret clinical diagnostic criteria, in individuals with early-onset breast cancer (age of diagnosis under 31 years), or in pediatric hypodiploid acute lymphoblastic leukemia. Targeted TP53 familial variant testing may be considered medically necessary in an at-risk relative of a proband with a known TP53 pathogenic variant, and genetic testing for a germline TP53 variant is investigational for all other indications. Effective 2026-10-01, the code reference was updated to remove an ICD-9 diagnosis code and add ICD-10 diagnosis codes QA1.790, QA1.791 and QA1.792.