FBN1B - Overview: FBN1, Full Gene Sequence

Test Catalog

Test Name

Test ID: FBN1B    
FBN1, Full Gene Sequence

Useful For Suggests clinical disorders or settings where the test may be helpful

An aid 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, and autosomal dominant Weill-Marchesani syndrome

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

This test uses next-generation sequencing to evaluate for the presence of FBN1 variants associated with Marfan syndrome (MFS) or other FBN1-associated conditions.

 

Prior Authorization is available for this assay; see Special Instructions.

 

Targeted testing for familial variants (also called site-specific or known mutation testing) is available for all genes on this panel; see KVAR1 / Known Variant Analysis-1 Variant, KVAR2 / Known Variant Analysis-2 Variants, or KVAR3 / Known Variant Analysis-3+ Variants. Contact Mayo Medical Laboratories to confirm the appropriate test code for targeted testing if testing for a gene that is not included on this panel, or if testing for more than 5 variants is needed.

Highlights

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.

Special Instructions and Forms Library of PDFs including pertinent information and consent forms, specimen collection and preparation information, test algorithms, and other information pertinent to test

Method Name A short description of the method used to perform the test

Custom Sequence Capture and Targeted Next-Generation Sequencing

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.

Conditional

Reporting Name A shorter or abbreviated version of the Published Name for a test; an abbreviated test name

FBN1, Full Gene Sequence, B

Aliases Lists additional common names for a test, as an aid in searching

Aortopathy
Aortic aneurysm
Aortic dissection
Aortic root dilatation
Connective tissue
Dilated aortic root
Ectopia lentis
Familial Aortic Aneurysm and Dissection (FTADD)
Familial ectopia lentis
FBN1
FBN1 genetic
Fibrillin
Fibrillin1
Isolated ascending aortic aneurysm
Isolated ascending aortic aneurysm and dissection
Marfan
Marfan genetic
Marfan Syndrome (MFS)
Marfan-related
Marfan-related syndrome
MASS
MASS phenotype
MFS
Mitral valve prolapse
Mitral valve prolapse syndrome
MVP
Neonatal marfan
Neonatal marfan syndrome
Next Gen Sequencing Test
SGS
Shprintzen-Goldberg
TAAD
Weill-Marchesani syndrome
WMS