GSD Screen


Description

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. Download the referral form >


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
London
WC1N 3JH

Laboratory service

Chemical Pathology


Sample requirements

5-8 ml Lithium Heparin whole blood, can also be done on liver, muscle and cultured fibroblasts


Reference range

see report or contact laboratory


Disease / group

Glycogen Storage Disease Screen


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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