Laboratory: Genomics
Test Name:
PYRUVATE CARBOXYLASE DEFICIENCY (PC DEFICIENCY) - PC GENE - (B)
Test Code: MD
Clinical Information:
Only one mutation, c.1828G>A, in the PC gene is tested for.  This mutation is found in the Ojibwa and Cree populations. 
Collection Devices:
Specimen Required:
Blood: 8.0 mL
Pediatric Blood: 3.0 mL

Specimen must be kept at room temperature. Pediatric volume for infants only.
Referral:
Requisition:
Reference Values:
An interpretive report will be sent.
Availability:
Within 6 Weeks
Expedited turnaround time, where medically indicated, available upon request.
See Also:
More Information:
Do NOT centrifuge.  Specimen is forwarded to Health Sciences Centre - MS5 for analysis.  Store and ship specimens at room temperature.  Specimens sent for Molecular tests are not to be used for other tests (ie. CBC).
Microtainer(s) - EDTA, NO GEL (0.5 mL) to fill line
Manufacturer: Becton Dickinson & Company

Catalogue #: 363706