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 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
Cost
Upon request
Call in advance?
Not required