Lysosomal storage disorder screen (white cell enzymes)
The lysosomal storage diseases represent a heterogeneous collection of disorders caused by the malfunction of the lysosomes or one of their digestive proteins, eg. Tay-Sachs or Pompe’s disease. Enzyme deficiency leads to the accumulation of substrates within the cell, resulting in impaired overall cell metabolism.
Broadly, these can be classified into one of three categories according to symptoms/signs:
• neurological regression, hypotonia or fitting
• dysmorphia
• hepato/splenomegaly
Neonatal/infantile presentation of classic failure to thrive symptoms, with evidence of hepatomegaly, splenomegaly, angiokeratoma, a characteristic ‘cherry-red spot’ on the macula or neurological impairment with or without dysmorphic (facial) features If a mucopolysaccharidosis is suspected urine GAGs screen is usually undertaken prior to testing LYE
See report
Not currently performed in house; this is a referred test.
Please give clinical details (especially if small sample) as enzymes are assayed according to these.
Blood transfusion within 4 weeks may interfere with result and sampling at this time is best avoided.
Record last updated
August 21, 2025
Sample Container
6ml Lithium Heparin (Green top)
Search test database
Test Results
Yes, we have a Pathology User Guide
Yes. Please email your request to Imperial.nwlpcustomerservice@nhs.net
Results are communicated to clinical staff and are normally not communicated direct to patients either on telephone requests or in written report. If you need to contact us please click here to view the contact details page
Please contact the Customer Service Team Monday to Friday from 8:30am – 6:00pm on 0203 313 5353. Alternatively, see the Pathology User Guide for how to contact the relevant department. If advice is not urgent you can also email your query to Imperial.nwlpcustomerservice@nhs.net
Additional tests may be added by discussion with the relevant laboratory. The time limit for adding additional tests to a sample already received in the laboratory will depend on the type of sample and the department it was sent to.
Information on the repertoire of tests performed by pathology, including reference ranges, turnaround times and specimen requirements, can be found in the test directory.
Phlebotomy services are not managed by NWLP. For further information please see:
Imperial College Healthcare Trust Phlebotomy services
Chelsea and Westminster Hospital NHS Foundation Trust Phlebotomy services
NWLP operates UKAS accredited medical laboratories as per the references below. The current scope of accreditation for all NWLP’s laboratories can be found on the UKAS website.
See the following UKAS ref numbers:
- Clinical Biochemistry Ref: 8673
- Haematology and Blood Transfusion Ref: 8674
- Infection & Immunity Sciences (Including Immunology, Virology, Microbiology and Histocompatibility and Immunogenetics ) Ref: 8659
- Cellular Pathology (Including Histopathology, Cytology and Molecular Pathology) Ref: 9615
If you require copies of our certificate of accreditation and associated documentation please contact Imperial.nwlpcustomerservice@nhs.net.
UKAS requires the laboratories to be accredited for a particular repertoire/scope (ISO15189), any changes or additions to repertoire require assessment by UKAS (extension to scope).
The BD Hospital Tube Guide, BD GP Tube Guide and BD Paediatric Tube Guide provide visual references to the correct tube types and collection instructions.
Home testing
INSTRUCTION SHEET FOR BLOOD SAMPLE COLLECTION
We also have two instruction videos available (one with subtitles and one without) – please click on the links to view the videos on Google.
Our accreditations
Upholding excellence in diagnostic standards
Our laboratories are accredited by the UK Accreditation Service (UKAS) against the international standard ISO15189:2022. UKAS is the accreditation body for the UK that assesses medical laboratories.
Find out more about our accreditations on the UKAS website.
UKAS website