Concert Genetic Testing: Exome and Genome Sequencing for the Diagnosis of Genetic Disorders

This policy covers exome (ES) and genome sequencing (GS) genetic testing—including standard, trio, and rapid workflows—for diagnostic and oncology molecular profiling when disorders or congenital anomalies remain unexplained after standard clinical evaluation or when broader variant detection is required (e.g., CNVs, structural variants, repeat expansions, deep intronic variants), and for specific indications such as unexplained intellectual disability/global developmental delay, congenital anomalies, unexplained seizures, critically ill infants, certain prenatal indications, and oncology cases. Trio testing is preferred when possible; pre- and post-test genetic counseling and documentation by a medical geneticist/genetic counselor/APGN are required, and periodic reanalysis (often ~18–24 months) is supported for initially nondiagnostic tests. Coverage is limited—ES/GS is not covered if previously performed, is excluded when a well-described syndrome can be addressed by single-gene or targeted panels, repeat standard ES for the same indication is investigational, and rapid/reanalysis procedures are investigational or restricted when not meeting the policy’s specified clinical criteria (e.g., rapid GS limited to acutely ill infants ≤12 months).