FBKM - Overview: FBN1 Genetic Analysis, Known Mutation

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Test ID: FBKM    
FBN1 Genetic Analysis, Known Mutation

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

Genetic testing of individuals at risk for a known FBN1 mutation

Profile Information A profile is a group of laboratory tests that are ordered and performed together under a single Mayo Test ID. Profile information lists the test performed, inclusive of the test fee, when a profile is ordered and includes reporting names and individual availability.

Test IDReporting NameAvailable SeparatelyAlways Performed
FBKMPFBN1 Gene, Known MutationNoYes
FBKMSFBN1 Known Mutation SequencingNoYes

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.


Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

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

Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

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


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

FBN1 Gene, Known Mutation

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

Aortic aneurysm
Aortic dissection
Aortic root dilatation
Connective tissue
Dilated aortic root
Ectopia lentis
Familial ectopia lentis
FBN1 genetic
Isolated ascending aortic aneurysm
Isolated ascending aortic aneurysm and dissection
Marfan genetic
Marfan syndrome
Marfan-related syndrome
MASS phenotype
Mitral valve prolapse
Mitral valve prolapse syndrome
Neonatal marfan
Neonatal marfan syndrome
Weill-Marchesani syndrome
Familial Aortic Aneurysm and Dissection (FTAAD)