alpha-glucosidase


Description

Alpha-glucosidase

Also known as

Glyogen storage disease type 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. Download the referral form >


Additional information

Can also be done on leucocytes from 5-8 ml Lithium Heparin whole blood


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. Can also be done on leucocytes from 5-8 ml Lithium Heparin whole blood, and also be done on cultured fibroblasts and muscle biopsy.


Reference range

see report or contact laboratory


Turnaround time

42 days


Disease / group

Pompe disease, Lysosomal storage disorder


Cost

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...

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