MolDX: Genetic Testing for Heritable Thoracic Aortic Disease

Genetic testing for Heritable Thoracic Aortic Disease is covered when the patient has documented aortic root or ascending aortic dilation/aneurysm/dissection per national guidelines and at least one qualifying feature (presentation before age 60, syndromic features of Marfan/Loeys-Dietz/vascular Ehlers-Danlos, relevant first- or second-degree family history, or family history of unexplained early sudden death). Coverage also requires documented offer of genetic counseling, that the test includes guideline-supported gene/variant content (per ClinGen and ACC/AHA), completion of a MolDX Technical Assessment, no harmful extra genetic content, and no conflict with repeat germline testing policy L38429; single-variant testing is only covered for known familial variants.

"Patient has aortic root or ascending aortic dilation, aneurysm, or dissection documented according to national consensus guidelines."