Concert Genetic Testing: Metabolic, Endocrine, and Mitochondrial Disorders

This policy covers genetic and molecular testing to diagnose hereditary metabolic (inborn errors of metabolism), non‑cancerous endocrine, and mitochondrial disorders — including testing for symptomatic children or adults, follow‑up of abnormal newborn metabolic screens, carrier/prenatal/preimplantation screening, cascade testing of at‑risk relatives, and evaluation for monogenic diabetes/MODY when clinically indicated. Major limitations require adherence to the policy’s specific criteria and the General Approach to Genetic and Molecular Testing: targeted MTHFR variant testing is generally not recommended/not covered (and investigational for thrombophilia, recurrent pregnancy loss, and at‑risk relatives), multigene panels are investigational except to establish/confirm MODY, mitochondrial genome and nuclear gene testing are investigational except when strict clinical criteria are met, and this pathway applies only to disorders not addressed by disease‑specific policies.