SPINAL MUSCULAR ATROPHY (SMA) - SMN1 GENE - (B)
Test Code: MD
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:
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.
An interpretive report from the referral laboratory will be forwarded to the physician.
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.
Sample MUST be drawn and shipped to Health Sciences Centre - MS5 within 24 hours of blood draw and received in laboratory by Wednesday. Do NOT centrifuge. Store and ship specimen at room temperature. Specimens sent for Molecular tests are not to be used for other tests (ie. CBC).