Spinal Bulbar Muscular Atrophy (SBMA) – RRPL
Discipline
Genetics and Genomics
Overview
Description
Ordering Recommendations
- This test will help support the investigation of individuals with clinical features suggestive of Spinal Bulbar Muscular Atrophy (SBMA).
Ordering Requirements
- This test has been pre-approved for select medical specialties as indicated (Physician Approval to Order)
- Other physicians may inquire about getting their patient tested through the Genetics Resource Centre process
- Rush/urgent cases must be indicated on the requisition along with an e-mail to RRPLMolecularGenetics@saskhealthauthority.ca .
- If this test will impact an ongoing pregnancy, also fax an urgent referral to the division of medical genetics: 306-655-1736 (otherwise see Genetic Resource Centre process)
Alias
- SBMA, AR
Specimen Information
Specimen types accepted
- Whole Blood: Lavender (EDTA) 4.0 mL
Specimen collection container
- Preferred collection container: Lavender (EDTA) 4.0ML
- Alternative collection container: Microcollection - EDTA
Required volume
- Optimal volume: 8 mL
- Minimum volume: 0.5 mL
- Pediatric volume: 0.5 – 3 mL
EDTA tubes should be completely full, 2/3 full at minimum, testing may be affected by partial draw
- For Patients over 20 kg: 2 EDTA tubes each containing 3.0 mL of blood
- For Patients up to 20 kg: 2 EDTA tubes each containing 2.0 mL of blood
- For Neonates: 1 EDTA containing a minimum of 0.5 mL of blood
Transport and stability
- Specimen specific storage and transport instructions (ex. Frozen, ship on ice, temperature specification)
- Room temperature: if being shipped on same day of collection (preferred).
- Refrigerated: If shipping is delayed
Performance
Methodology
- Purpose of test (brief): This test detects an expansion of a trinucleotide repeat expansion in exon 1 of the AR gene.
- How testing is performed: Referred out. PCR sizing and repeat-primed PCR.
- Clinical result Interpretations: Interpretation provided on report.
Specimen retention time
- For more information, visit the RRPL Requisitions and Completion Aids page
Last Updated: March 28, 2024