PYRUVATE CARBOXYLASE DEFICIENCY (PC DEFICIENCY) - PC GENE - (B)
Test Code: MD
Only one mutation, c.1828G>A, in the PC gene is tested for. This mutation is found in the Ojibwa and Cree populations.
Blood: 8.0 mL
Pediatric Blood: 3.0 mL
Specimen must be kept at room temperature. Pediatric volume for infants only.
An interpretive report will be sent.
Within 6 Weeks
Expedited turnaround time, where medically indicated, available upon request.
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).