Genetic Testing for Marfan Syndrome, Thoracic Aortic Aneurysms and Dissections, and Related Disorders (2.04.129)
Summary
Blue Shield of California covers individual genetic testing for Marfan syndrome, Ehlers-Danlos syndrome type IV, other thoracic aortic aneurysm and dissection syndromes, and related disorders when signs and symptoms of a connective tissue disorder are present but a definitive diagnosis cannot be made using established clinical diagnostic criteria. The genes covered for individual testing and focused panels are FBN1, MYH11, ACTA2, TGFBR1, TGFBR2 and COL3A1. Targeted familial variant testing in an asymptomatic individual may be considered medically necessary when a known pathogenic variant is present in the family, and genetic testing panels that are not limited to focused genetic testing are considered investigational.
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