Description
Alpha-glucosidase
Also known as
Glyogen storage disease type II, GSD II, Acid maltase deficiency
Request a test
To request this test please send sample with a request providing patient ID (three identifiers), specimen information, assay required, relevant clinical details and sender information. Before sending sample please read details on requesting and labelling by clicking on the link. Please also refer to any additional information provided for this test.
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Additional information
Can also be done on leucocytes from 5-8 ml Lithium Heparin whole blood received at ambient temperature within 24 hours of phlebotomy and cultured fibroblasts
Sending address
Chemical Pathology Reception
Level 1, Camelia Botnar Building
Great Ormond Street Hospital
Great Ormond Street
London
WC1N 3JH
Laboratory service
Chemical Pathology
Sample requirements
Blood spot. Alternatively at least 1 mL blood collected into a lithium heparin or EDTA tube can be sent to the lab with this request for spotting in the lab.
Reference range
see report or contact laboratory
Turnaround time
6 weeks
Disease / group
Pompe disease, Lysosomal storage disorder
Cost
Upon request
Call in advance?
Not required