Spinobulbar Muscular Atrophy SPINMUS

Synonyms

Allscripts (AEHR) Order Name

Spinobulbar Muscular Atrophy

Sunrise Clinical Manager (SCM) Order Name

Not Orderable

Clinical Info

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

Specimen Type

Blood

Container

Lavender Top Tube

Collection Instructions

Informed Consent for Genetic Testing Required
Container/Tube: Lavender (EDTA) Top Tube
Specimen: 3 mL Whole Blood (0.5 mL min)
Transport Temperature: Room Temperature
Specimen Must arrive within 96 hours of draw.

Transport Instructions

Room Temperature

Specimen Stability

Methodology

A Polymerase Chain Reaction (PCR)-based assay is utilized to
detect expansion-type mutations (CAG repeats) within the androgen
receptor gene.

Days Performed

Tuesday; 10 a.m.

Performing Laboratory

Mayo Medical Laboratories

CPT

81204-AR (androgen receptor)(eg, spinal and bulba muscular atrophy, Kennedy disease, X
chromosome inactivation) gene analysis; characterization of alleles
(eg, expanded size or methylation status)

LOINC Code: 35359-9

PDM

1553718

Result Interpretation

Normal alleles: 11-34 CAG repeats

Abnormal alleles: 36-62 CAG repeats

 

An interpretive report will be provided.

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