Spinobulbar Muscular Atrophy (SBMA) Expansion Analysis Build info

Synonyms

  • SPINOBULBAR MUSC ATROPHY
  • SPINMUS
  • LAB11623

Short Name

SPINOBULBAR MUSC ATROPHY

Procedure Master Number

LAB11623

Procedure ID

115561

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

Results
Component Name Base Name Common Name External Name
SMA AMENDMENT SMAAMEND SMA AMENDMENT Sma Amendment
SMA METHOD SMAMETH SMA METHOD
SMA ORDER DATE SMAORDDT SMA ORDER DATE
SMA RESULT SMA SMA RESULT Sma Result
SMA RESULT SMA SMA RESULT Sma Result
SMA REVIEWED BY SMAREVBY SMA REVIEWED BY Sma Reviewed By
SMA SOURCE SMASOURCE SMA SOURCE
SMA SPECIMEN ID SMASPECID SMA SPECIMEN ID Sma Specimen Id
SMDA INTERP SMDAINT SMDA INTERP Smda Interp
SMDA REASON FOR REFERRAL SMDAREAREF SMDA REASON FOR REFERRAL Smda Reason For Referral
SMDA SPECIMEN SMDASPEC SMDA SPECIMEN Smda Specimen