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

R276

Lysosomal storage disorder

Test Group

Metabolic

Specialties

Clinical Genetics Metabolic Medicine Neurology

Test code

R276.1

Test name

N/A

Target genes

Lysosomal storage disorder (529)

Test scope

n/a

Test method/ technology

WES or Medium Panel

Optimal Family Structure

n/a

Eligibility Criteria

1. Clinical phenotype or radiological signs suggesting a lysosomal storage disorder, AND
2. Abnormal urine MPS or oligosaccharides screen or white cell enzymes analysis that are indicative of lysosomal storage disorder but do not allow more targeted testing

Test code

R276.2

Test name

N/A

Target genes

Lysosomal storage disorder (529)

Test scope

n/a

Test method/ technology

Exon level CNV detection by MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

1. Clinical phenotype or radiological signs suggesting a lysosomal storage disorder, AND
2. Abnormal urine MPS or oligosaccharides screen or white cell enzymes analysis that are indicative of lysosomal storage disorder but do not allow more targeted testing

Commissioning group

Highly Specialised

Overlapping idications

• 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