Genetic testing for TP53 may be considered medically necessary to confirm a diagnosis of Li-Fraumeni syndrome under the following conditions:
In an individual who meets either the classic or the Chompret clinical diagnostic criteria for Li-Fraumeni syndrome, or
In individuals with early-onset breast cancer (age of diagnosis <31 years), or In pediatric hypodiploid acute lymphoblastic leukemia (see Policy Guidelines). Targeted TP53 familial variant testing may be considered medically necessary in an at-risk relative of a proband with a known TP53 pathogenic variant. Genetic testing for a germline TP53 variant is considered investigational for all other indications (see Policy Guidelines).
