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:
Investigation of glycogen storage disease type 4 (Andersen disease).
Analysis of the GSD gene panel is the preferred test for patients with a suspected GSD.
Analysis of individual enzymes may be required to confirm results of genetic testing.
Specimen container paediatric:
Lithium heparin whole blood
Specimen container adult:
Lithium heparin 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)
Please notify laboratory first.
NOT acceptable on Friday
Transport requirements:
Please notify laboratory before sending