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.

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

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


Upon request

Call in advance?

Not required

Chemical Pathology

The Chemical Pathology Laboratory provides an extensive range of services covering both routine biochemistry and specialised analysis and interpretation.

© 2011 Great Ormond Street Hospital for Children NHS Trust