Test ID: FBKM
FBN1 Genetic Analysis, Known Mutation
Secondary ID 
A test code used for billing and in test definitions created prior to November 2011
89311
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Conditional
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 ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| FBKMP | FBN1 Gene, Known Mutation | No | Yes |
| FBKMS | FBN1 Known Mutation Sequencing | No | Yes |
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.)
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
FBN1 genetic
Fibrillin
Fibrillin1
Isolated ascending aortic aneurysm
Isolated ascending aortic aneurysm and dissection
Marfan
Marfan genetic
Marfan syndrome
Marfan-related
Marfan-related syndrome
MASS
MASS phenotype
MFS
Mitral valve prolapse
Mitral valve prolapse syndrome
MVP
Neonatal marfan
Neonatal marfan syndrome
SGS
Shprintzen-Goldberg
TAAD
Weill-Marchesani
Weill-Marchesani syndrome
WMS
Familial Aortic Aneurysm and Dissection (FTAAD)
Aortic dissection
Aortic root dilatation
Connective tissue
Dilated aortic root
Ectopia lentis
Familial ectopia lentis
FBN1
FBN1 genetic
Fibrillin
Fibrillin1
Isolated ascending aortic aneurysm
Isolated ascending aortic aneurysm and dissection
Marfan
Marfan genetic
Marfan syndrome
Marfan-related
Marfan-related syndrome
MASS
MASS phenotype
MFS
Mitral valve prolapse
Mitral valve prolapse syndrome
MVP
Neonatal marfan
Neonatal marfan syndrome
SGS
Shprintzen-Goldberg
TAAD
Weill-Marchesani
Weill-Marchesani syndrome
WMS
Familial Aortic Aneurysm and Dissection (FTAAD)
External
link
PDF
document
Excel
document
Word
document