Individual genetic testing for the diagnosis of Marfan syndrome, Ehlers-Danlos syndrome type IV, other syndromes associated with thoracic aortic aneurysms and dissections, and related disorders, and panels comprised entirely of focused genetic testing limited to the following genes: FBN1 and MYH11; ACTA2, TGFBR1, and TGFBR2; and COL3A1 may be considered medically necessary when signs and symptoms of a connective tissue disorder are present, but a definitive diagnosis cannot be made using established clinical diagnostic criteria.
Individual, targeted familial variant testing for Marfan syndrome, Ehlers-Danlos syndrome type IV, other syndromes associated with thoracic aortic aneurysms and dissections, and related disorders, for assessing future risk of disease in an asymptomatic individual, may be considered medically necessary when there is a known pathogenic variant in the family.
Genetic testing panels for Marfan syndrome, Ehlers-Danlos syndrome type IV, other syndromes associated with thoracic aortic aneurysms and dissections, and related disorders that are not limited to focused genetic testing are considered investigational.
