Turnaround times
The quoted turnaround time is from sample receipt in the laboratory, to results authorisation in the Laboratory Information Management system. The times do not include transport of specimen to the laboratory or the administrative process to print and post/email reports. Service users must allow for transport and reporting time when ordering tests.
Clinical background:
For the diagnosis of peroxisomal disorders and pyridoxine-dependent epilepsy.Abnormal results are confirmed with urine α-amino adipic semialdehyde and/or CSF pipecolic acid.
Specimen container paediatric:
Lithium heparin plasma, serum acceptable
Specimen container adult:
Lithium heparin plasma, serum acceptable
Minimum volume paediatric:
200 µL
Minimum volume adult:
200 µL
Special requirements:
Unsuitable if patient is on pyridoxine
Sample stability:
Freeze sample