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Genetic Testing for Marfan Syndrome, Thoracic Aortic Aneurysms and Dissections, and Related Disorders (2.04.129)

Blue Shield of California·CA · Genetics, Cardiology, Cardiothoracic Surgery·Genetic Testing
Effective date
May 1, 2026
We identified it
Nov 1, 2025
Days to comply

Summary

Blue Shield of California updated its genetic testing policy for Marfan syndrome and related connective tissue disorders, clarifying that individual gene testing and focused panels are covered when clinical diagnosis cannot be made, while broader genetic panels remain investigational. The policy becomes effective May 1, 2026.

Action Required

Action needed
Before May 1, 2026: Billing team must update prior authorization processes to ensure genetic testing requests for Marfan syndrome and related disorders specify focused gene panels (FBN1, MYH11, ACTA2, TGFBR1, TGFBR2, COL3A1) rather than broad panels. Update encounter forms to remind providers that broader genetic testing panels are considered investigational and may be denied. Ensure documentation shows clinical signs/symptoms are present but definitive diagnosis cannot be made using clinical criteria.