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Test ID: FBN1B    
FBN1 Full Gene Sequence, Varies

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

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

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 (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.

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 Library of PDFs including pertinent information and forms related to the test

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

Custom Sequence Capture and Targeted Next-Generation Sequencing

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

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

FBN1 Full Gene Sequence

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