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SBMA-M
SPINOBULBAR MUSCULAR ATROPHY (KENNEDY'S DISEASE), MOLECULAR ANALYSIS

Test Code SBMA-M 
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 VACUTAINERŪ. Invert several times to mix blood. (GREEN-TOP [HEPARIN] TUBE IS NOT ACCEPTABLE.) Forward unprocessed whole blood promptly at ambient temperature only.

NOTE:
1. REASON FOR REFERRAL PLUS RELEVANT CLINICAL AND FAMILY INFORMATION MUST BE SUBMITTED WITH SPECIMEN IN ORDER TO PROVIDE CORRECT INTERPRETATION OF TEST RESULTS using a "Molecular Genetics Congenital Disorders Request Form". 

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 
CPT Code(s) 81401