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:
Screening for Pompe disease, alpha-glucosidase deficiencyInfantile Pompe disease presents with severe (cardio) myopathy, hypotonia, respiratory failure, failure to thrive; and if untreated, is fatal in the first year. Juvenile and adult forms are less severe, presenting with slow progressive muscle weakness and atherosclerosis.
Specimen container paediatric:
EDTA whole blood or bloodspot card.
Specimen container adult:
EDTA whole blood or bloodspot card.
Minimum volume paediatric:
- 0.5 ml
- 2 blood spots
Minimum volume adult:
- 0.5 ml
- 2 blood spots
Transport requirements:
Samples sent at ambient temperature
Availability:
Sample sent to an external laboratory for analysis