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Test ID: SBMA    
Spinobulbar Muscular Atrophy (Kennedy's Disease), Molecular Analysis

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

81176

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

Yes

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

Molecular confirmation of clinically suspected cases of sporadic or familial spinobulbar muscular atrophy (SBMA)

 

Presymptomatic testing for individuals with a family history of SBMA and a documented expansion in the androgen receptor (AR) gene

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

A polymerase chain reaction (PCR)-based assay is utilized to detect expansion-type mutations (CAG repeats) within the androgen receptor gene.
(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

Spinobulbar Musc Atrophy, Kennedy's

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

Kennedy's Disease
SBMA (Spinal and bulbar muscular atrophy)