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:
A panel of enzymes for investigation of glycogen storage disorders (GSD)
Analysis of the GSD gene panel is the preferred test in patients with a suspected GSD.
Analysis of individual enzyme may be required to confirm result of genetic testing.
Specimen container paediatric:
EDTA whole blood
Specimen container adult:
EDTA whole blood
Minimum volume paediatric:
5 mL
Minimum volume adult:
5 mL
Special requirements:
Must reach lab for processing within 24 hours (and before 2pm).
NOT acceptable on Friday.
Transport requirements:
Please notify laboratory before sending
First class post
Reference ranges:
Panel consists of:
Phosphorylase A 8 to 140 μmol/min/g protein
total phosphorylase 22 to 160 μmol/min/g protein
phosphorylase b kinase 6 to 30 mmol/min/g Hb
Debrancher 0.3 to 3 μmol/min/g protein