Clinical Indication ID & Name
Glycogen storage disease V
Test Group
Metabolic
Test code
R273.1
Test name
N/A
Target genes
PYGM
Test scope
n/a
Test method/ technology
Single gene sequencing >=10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
Clinical and laboratory features characteristic of Glycogen storage disease type V including:
1. Elevated baseline serum CK, AND
2. Characteristic lactate/lactate:ammonia profile after exercise
Commissioning group
Highly Specialised
Overlapping idications
• Broader R274 Glycogen storage disease panel test should be used where a broader differential diagnosis of glycogen storage diseases is under consideration • It is anticipated that many specific metabolic diagnoses will be made through use of broad genomic testing via the R98 Likely inborn error of metabolism - targeted testing is not possible early in the investigative pathway and in cases with atypical features where a broader differential diagnosis is under consideration
Address for samples/request forms
North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH
Contact with queries
Supporting documents
Rare Disese WGS Clinician pack
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form