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Test ID: MFRGP    
Marfan Syndrome and Related Disorders Multi-Gene Panel, Varies

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

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

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

This test includes next-generation sequencing 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.

 

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.

 

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

Highlights

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.

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 followed by qPCR and/or Polymerase Chain Reaction (PCR) and Supplemental Sanger 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

Marfan and Related Genetic Panel

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

Marfan syndrome (MFS)
MASS
Mitral valve prolapse
Shprintzen-Goldberg
Loeys-Dietz syndrome
Aortic aneurysm
Aortic dissection
Aortic dilatation
Aneurysm
Arterial tortuosity
Vascular aneurysm
Familial Thoracic Aortic Aneurysm and Dissection
TAAD
FTAAD
ACTA2
CBS
COL3A1
FBN1
FBN2
MYH11
MYLK
SKI
SLC2A10
SMAD3
TGFB2
TGFBR1
TGFBR2
Aortopathy
Thoracic Aortic Aneurysm and Dissection
Next Gen Sequencing Test
COL5A1
COL5A2
FLNA
MFAPS
NOTCH1
PRKG1
SMAD4
TGFB3