Concert Genetic Testing: Skeletal Dysplasia and Rare Bone Disorders

Genetic testing (single‑gene COL1A1/COL1A2 analysis and phenotype‑targeted NGS multigene panels) to identify causative variants and obtain molecular diagnoses for suspected skeletal dysplasia and rare bone disorders, including osteogenesis imperfecta presenting with recurrent/minimal‑trauma fractures, short stature, blue sclera, dentinogenesis imperfecta, progressive hearing loss, or a relevant family history (e.g., ICD‑10 M85, Q77, Q78). Coverage is limited to disorders with a known genetic association and to patients who meet the policy’s clinical criteria (molecular confirmation may be required for targeted therapies); testing can be nondiagnostic, panels must be phenotype‑relevant, many other indications are investigational, and evaluation for non‑accidental trauma (especially rib fractures) must be considered.

"Genetic testing to identify causative gene(s) for patients with suspected skeletal dysplasia to obtain a precise molecular diagnosis."