Order or find a test

The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

Clinical Indication ID & Name

R274

Glycogen storage disease

Test Group

Metabolic

Specialties

Cardiology Clinical Genetics Hepatology Metabolic Medicine Neurology Paediatrics

Test code

R274.1

Test name

N/A

Target genes

Glycogen storage disease (528)

Test scope

n/a

Test method/ technology

WES or Medium Panel

Optimal Family Structure

n/a

Eligibility Criteria

Clinical and laboratory features characteristic of Glycogen storage disease:
1. Persistent hypoglycaemia with other metabolic disorders excluded, AND one or more of the following
a. Persistent hepatomegaly in childhood, OR
b. Liver biopsy suggestive of glycogen storage disease, OR
c. Neuromuscular presentation suggestive of glycogen storage disease, OR
d. Affected first degree relative
OR
1. Glycogen accumulation in the relevant tissue, AND one or more of the following:
a. Evidence of liver involvement: hepatomegaly OR hypoglycaemia with other metabolic disorders excluded, OR
b. Evidence of muscle involvement: myalgia OR rhabdomyolysis OR muscle weakness, OR
c. Evidence of cardiac involvement: cardiomegaly OR cardiomyopathy, OR
d. Other general evidence – at least two of: myopathy, cardiomyopathy, respiratory weakness,
vacuolar myopathy on muscle biopsy, pathological pattern on oligosaccharides

Test code

R274.2

Test name

N/A

Target genes

Glycogen storage disease (528)

Test scope

n/a

Test method/ technology

Exon level CNV detection by MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Clinical and laboratory features characteristic of Glycogen storage disease:
1. Persistent hypoglycaemia with other metabolic disorders excluded, AND one or more of the following
a. Persistent hepatomegaly in childhood, OR
b. Liver biopsy suggestive of glycogen storage disease, OR
c. Neuromuscular presentation suggestive of glycogen storage disease, OR
d. Affected first degree relative
OR
1. Glycogen accumulation in the relevant tissue, AND one or more of the following:
a. Evidence of liver involvement: hepatomegaly OR hypoglycaemia with other metabolic disorders excluded, OR
b. Evidence of muscle involvement: myalgia OR rhabdomyolysis OR muscle weakness, OR
c. Evidence of cardiac involvement: cardiomegaly OR cardiomyopathy, OR
d. Other general evidence – at least two of: myopathy, cardiomyopathy, respiratory weakness,
vacuolar myopathy on muscle biopsy, pathological pattern on oligosaccharides

Commissioning group

Specialised

Overlapping idications

• R273 Glycogen storage disease V test should be considered where clinical features are specific to Glycogen storage disease V (McArdle disease) • 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

Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT

Contact with queries

gst-tr.southeastglh@nhs.net

Supporting documents

n/a

Education resources

n/a

Turn around times

All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/

Request form download

Rare Disease Order Form Record of Discussion Form

Consent record

See consent guidance in test request form

Sample requirements

Samples may be rejected for the following reasons: 1.Samples and request form do not show at least three identical patient identifiers 2.The sample is in the incorrect collection media 3.The request form is not sufficiently completed 4.The sample is not of sufficient volume 5.The sample is too old