GSD Screen


The blood GSD screen includes RBC glycogen, leucocyte glycogen debrancher and leucocyte glycogen phosphorylase (total and phosphorylase a) and RBC phosphorylase-b-kinase i.e. GSD III, VI and IX. GSD IV (brancher) can be done in addition if requested.

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

Has the patient had a blood transfusion within the last 4 months? If so please contact the lab on x2509. For tissue samples, please specify which GSD enzymes you would like us to measure on the form or ring (ext 2509) to discuss. If no specific enzymes are requested the most appropriate enzymes as determined from the clinical information provided will be measured. Liver and muscle biopsies 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

Laboratory service

Chemical Pathology

Sample requirements

5-8 ml Lithium Heparin whole blood received at ambient temperature within 24 hours of phlebotomy, can also be done on liver, muscle and cultured fibroblasts

Reference range

see report or contact laboratory

Disease / group

Glycogen Storage Disease Screen


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