|Test||SPINOBULBAR MUSCULAR ATROPHY (KENNEDY'S DISEASE), MOLECULAR ANALYSIS|
|Methodology||Direct Mutation Analysis by Polymerase Chain Reaction (PCR)
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)
|Description||Useful for molecular confirmation of clinically suspected cases of sporadic or familial SBMA and for presymptomatic testing for SBMA in individuals with a positive family history of the condition|
|Specimen||SPECIMEN MUST ARRIVE WITHIN 96 HOURS OF DRAW.
Draw a full, lavender-top (EDTA) tube or a full, yellow-top (ACD) tube; and send 2.0 mL (minimum: 0.2 mL) of EDTA or ACD whole blood in the original VACUTAINER®. Invert several times to mix blood. (GREEN-TOP [HEPARIN] TUBE IS NOT ACCEPTABLE.) Forward unprocessed whole blood promptly at ambient temperature only.
|Reference Values||Normal alleles: 11-34 CAG repeats
Abnormal alleles: 36-62 CAG repeats
An interpretive report will be provided.
|Analytic Time||8 Days|
|Day(s) Test Set Up||Wednesday|