Description
Muscle alpha-glucosidase
Also known as
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
Biopsy must be snap frozen IMMEDIATELY in liquid nitrogen.
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
Muscle
Reference range
see report or contact laboratory
Turnaround time
60 days
Disease / group
Pompe disease, Glycogen Storage Disease type II, Lysosomal storage disorder
Cost
Upon request
Call in advance?
Not required