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:
α-amino adipic semialdehyde (αAASA) is increased in α-amino adipic semialdehyde dehydrogenase (antiquitin) deficiency; a disorder of lysine metabolism which results in pyridoxine-dependent epilepsy. The test is indicated in the investigation of a metabolic cause of seizures.αAASA is not affected by treatment with pyridoxine (vitamin B6).αAASA is also increased in molybdenum co-factor deficiency and isolated sulphite oxidase deficiency.
Specimen container paediatric:
Random urine – ideally first morning sample
Specimen container adult:
Random urine – ideally first morning sample
Minimum volume paediatric:
2 mL
Minimum volume adult:
2 mL
Special requirements:
Freeze as soon as possible, and store at -20°C
Transport requirements:
Ward: Send to laboratory at ambient temperature
External laboratories: Send frozen to RVI
Availability:
Sample sent to an external laboratory for analysis