Lab Information Manual

Laboratory:

Genomics

Test Name:

SPINAL MUSCULAR ATROPHY (SMA) - SMN1 GENE - (B)

Test Code: MD

Clinical Information:

Testing done for confirmation of clinical diagnosis in symptomatic patients. Requests for testing limited to medical geneticists and neurologists. For carrier status, prior consultation with the WRHA Genetics and Metobolism Program is strongly recommended. All out-of-province testing subject to final laboratory approval. For more information on Spinal Muscular Atrophy, see:
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sma

Collection Devices:

Preferred Device:	2 - EDTA 4 mL NO GEL Tube(s) - Full Tube Collection EDTA 4 mL NO GEL Tube(s) - Full Tube Collection Manufacturer: Becton Dickinson & Company Catalogue #: 367861
Alternate Device:	6 - Microtainer(s) - EDTA, NO GEL (0.5 mL) to fill line Microtainer(s) - EDTA, NO GEL (0.5 mL) to fill line Manufacturer: Becton Dickinson & Company Catalogue #: 363706

Specimen Required:

Blood: 8.0 mL

Pediatric Blood: 3.0 mL

Specimen must be drawn Monday to Wednesday to allow for sample to be shipped as whole blood to out-of-province laboratory. Keep specimen at room temperature. Pediatric volume for infants only. For prenatal diagnosis, contact laboratory for approval and to obtain specimen requirements.

Referral:

Requisition:

_SH HSC Molecular Diagnostic Lab Test Requisition (R250-10-09)

Reference Values:

An interpretive report from the referral laboratory will be forwarded to the physician.

Availability:

Weekdays, Monday to Wednesday only. Specimen is forwarded to an out-of-province laboratory for testing, if approved. Turnaround time is estimated to be 8 to 10 weeks. Expedited results available for neonates with an estimated turnaround time of 3 weeks.