Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
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Aiding in the diagnosis of:
-FBN1-associated Marfan syndrome
-Autosomal dominant ectopia lentis
-Isolated ascending aortic aneurysm and dissection
-Isolated skeletal features of Marfan syndrome
-MASS phenotype (mitral valve prolapse, aortic diameter increased, stretch marks, skeletal features of MFS)-Shprintzen-Goldberg syndrome
-Autosomal dominant Weill-Marchesani syndrome
This test uses next-generation sequencing (NGS) to evaluate for the presence of FBN1 variants associated with Marfan syndrome (MFS) or other FBN1-associated conditions. Additionally, NGS is used to test for the presence of large deletions and duplications.
Prior Authorization is available for this assay; see Special Instructions.
Pathogenic FBN1 variants are most commonly associated with Marfan syndrome (MFS), but have also been reported in other rare phenotypes with variable overlap with classic MFS.
Approximately 25% to 33% of individuals with a pathogenic FBN1 variant have no family history of disease due to the variant being de novo.
Genetic testing for pathogenic FBN1 variants aids in the diagnosis of FBN1-associated MFS and other FBN1-associated conditions. Confirmation of 1 of these conditions allows for proper treatment, management, and genetic counseling.
Custom Sequence Capture and Targeted Next-Generation Sequencing