Genetic Testing for Heterozygous Familial Hypercholesterolemia (2.04.139)
Summary
Blue Shield of California covers genetic testing to confirm familial hypercholesterolemia (FH) only when a definitive diagnosis is required as an eligibility criterion for specialty medications, the individual is in an uncertain diagnostic category by clinical criteria, and alternative treatment considerations are in place for individuals with an uncertain diagnosis and a negative genetic test. Genetic testing to confirm FH in other situations, and genetic testing of adults who are close relatives of individuals with FH to determine future risk, are considered investigational. Genetic testing of children of individuals with FH to determine future risk may be considered medically necessary when a pathogenic variant is present in a parent and general lipid screening is not recommended based on age or other factors.
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