Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of Marfan syndrome, Loeys-Dietz syndrome, thoracic aortic aneurysm and dissections, or a related disorder
Second-tier testing for patients in whom previous targeted gene variant analyses for specific Marfan and related genes were negative
Establishing a diagnosis of a Marfan or a related disorder in some cases, allowing for appropriate management and surveillance for aneurysms and other disease features based on the gene involved
Identifying variants within genes known to be associated with increased risk for aneurysms and other disease features allowing for predictive testing of at-risk family members
This test includes next-generation sequencing (NGS) and supplemental Sanger sequencing to evaluate for variants in the ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MFAP5, MYH11, MYLK, NOTCH1, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, and TGFBR2 genes. Additionally, NGS is used to test for the presence of large deletions and duplications in a subset of genes.
Prior Authorization is available for this assay; see Special Instructions.
This test uses next-generation sequencing with copy number variation analysis to test for variants in the ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MFAP5, MYH11, MYLK, NOTCH1, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, and TGFBR2 genes.
This test may aid in the diagnosis of Marfan syndrome, Loeys-Dietz syndrome, familial thoracic aortic aneurysm and dissection (TAAD), or a related disorder.
Identification of a pathogenic variant may assist with prognosis, clinical management, familial screening, and genetic counseling.
