Concert Genetic Testing: Eye Disorders

This policy covers genetic testing for inherited and other specified eye disorders—including single‑gene and multigene panels (CPT 81400–81408)—and specifically genetic testing to establish eligibility for RPE65 gene therapy in individuals with vision loss from biallelic RPE65-associated inherited retinal dystrophy. Coverage is limited to patients with documented clinical features (e.g., rod‑cone or cone‑rod degeneration, macular dystrophy, Duane syndrome, FEVR, aniridia, X‑linked retinoschisis, presenile cataracts), requires panels to include RPE65 and demonstration of two pathogenic/likely pathogenic RPE65 variants with confirmed phase, mandates testing in CLIA‑certified labs, and considers many other uses (including routine AMD risk panels and most multigene panels outside listed indications) investigational or not covered.

"Gene therapy is eligible for individuals with vision loss due to biallelic RPE65 variant–associated inherited retinal dystrophy."