Test Catalog

Test ID: PMMFR    
Postmortem Marfan and Related Panel

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

Providing a comprehensive postmortem genetic evaluation in the setting of a sudden death attributed to thoracic aortic dissection or with a personal or family history suggestive of Marfan syndrome, Loeys-Dietz syndrome, thoracic aortic aneurysm and dissections, or a related disorder

 

Identification of a pathogenic variant in the decedent, which may assist with risk assessment and 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, FBN1, FBN2, MYH11, MYLK, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, and TGFBR2 genes.

Highlights

This test is intended for use on postmortem samples (eg, formalin-fixed, paraffin-embedded [FFPE] tissue block) when whole blood is not available.

 

This test uses next-generation sequencing to test for variants in the ACTA2, CBS, COL3A1, FBN1, FBN2, MYH11, MYLK, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, and TGFBR2 genes.

 

This test may aid in the postmortem 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 familial risk assessment, screening, 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 followed by 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

Postmortem Marfan and Related Panel

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

ACTA2
Aneurysm
Aortic aneurysm
Aortic dilatation
Aortic dissection
Aortopathy
Arterial tortuosity
CBS
COL3A1
Familial Thoracic Aortic Aneurysm and Dissection
FBN1
FBN2
FTAAD
Loeys-Dietz syndrome
Marfan syndrome (MFS)
MASS
Mitral valve prolapse
MYH11
MYLK
Next Gen Sequencing Test
Shprintzen-Goldberg
SKI
SLC2A10
SMAD3
TAAD
TGFB2
TGFBR1
TGFBR2
Thoracic Aortic Aneurysm and Dissection
Vascular aneurysm
Formalin-fixed paraffin-embedded tissue
FFPE
Postmortem
Sudden cardiac arrest
Sudden cardiac death
Sudden unexplained death
Sudden death