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Genetic Testing for Heterozygous Familial Hypercholesterolemia

Genetic testing to confirm a diagnosis of familial hypercholesterolemia (FH) may be considered medically necessary when a definitive diagnosis is required as an eligibility criterion for specialty medications (see Policy Guidelines) and when the following criteria are met:Genetic testing is targeted to individuals who are in an uncertain category according to clinical criteria (personal and family history, physical exam, lipid levels) (see Policy Guidelines); AND

Alternative treatment considerations are in place for individuals who have an uncertain diagnosis of FH and a negative genetic test.

Genetic testing to confirm a diagnosis of heterozygous FH is considered investigational in all other situations.

Genetic testing of adults who are close relatives of individuals with FH to determine future risk of disease is considered investigational (see Policy Guidelines).

Genetic testing of children of individuals with FH to determine future risk of disease may be considered medically necessary when the following criteria are met (see Policy Guidelines):

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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