Clinical Indication ID & Name
Lysosomal storage disorder
Test Group
Metabolic
Specialties
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
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
n/a
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