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Test ID: TGFK1    
TGFBR1 Gene, Known Mutation

Secondary ID A test code used for billing and in test definitions created prior to November 2011

89460

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 TGFBR1 mutation

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

This is a genetic test intended for TGFBR1 gene analysis on patients with a history of Loeys-Dietz syndrome and related disorders. This test does not analyze transforming growth factor beta levels.

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
TG1KTGFBR1 Gene, Known MutationNoYes
TG1KQTGFBR1 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.)

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

TGFBR1 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
Familial Thoracic Aortic Aneurysm and Dissection (FTAAD)
FTAAD (Familial Thoracic Aortic Aneurysm and Dissection)
Furlong Syndrome
Isolated Ascending Aortic Aneurysm and Dissection
LDS (Loeys-Dietz Syndrome)
LDS1B
LDS2B
Loeys-Dietz Aortic Aneurysm Syndrome
Loeys-Dietz Syndrome (LDS)
Loeys-Dietz Syndrome Type 1
Loeys-Dietz Syndrome Type 2
Loeys-Dietz Syndrome Type I
Loeys-Dietz Syndrome Type II
Marfan Genetic
Marfan Syndrome (MFS)
Marfan Syndrome Type 2
Marfan Syndrome Type II
Marfan-Related Syndrome
MFS
MFS2
TAAD
TGFBR1
TGFBR1 Genetic