Lysosomal enzymes
(referred to external laboratory)
Stoke & County: Department of Newborn Screening & Biochemical Genetics, Birmingham Children's Hospital
Leighton & Macclesfield: Department of Genomic Diagnostics Laboratories, Willink Biochemical Genetics Laboratory
Add-on requests: NA
Minimum Retest Interval: NA
Collect the blood sample using normal venepuncture technique into a EDTA tube (purple-top).
Please note: at least 5-10 mL EDTA whole blood is required for testing. Samples <5 mL will be rejected.
It is essential to contact the Duty Biochemist at least 48 hours before sample collection. Transport arrangements to the referral laboratory must be organised in advance due to the limited stability of this analyte.
Samples should be sent to the laboratory on the same day as collection to ensure sample integrity is maintained. If a delay in receipt of the sample is anticipated, please contact the laboratory to discuss storage requirements.
Samples must reach the referral laboratory within 24 hours (BCH) or 72 hours (Willink) of collection. Please do not take bloods on a Friday, as samples cannot be stored onsite.
For generic information on test requesting, sample labelling and packaging, and sample transport – see the frequently asked questions here.
Adult sample type:
Paediatric sample type:
EDTA whole-blood
Based on receipt at testing site.
Within 6 weeks
Please access the referral laboratory website/laboratory handbook for information on reference ranges. Where required, reference ranges and/or interpretative comments provided by the external referral laboratory may be added to reports alongside results.
Results outside the reference range do not necessarily indicate disease. Similarly, results within the reference range do not preclude abnormality. Please contact the Duty Biochemist for discussion of individual patient results.
Investigation of lysosomal storage disorders.
Factors that significantly affect result
There are a number of non-pathological factors that can influence levels of specific analytes, giving falsely elevated or reduced levels. If you require more information regarding the effects of these factors on the individual test results, please contact the Duty Biochemist.
For tests performed at an external referral laboratory, consider contacting the performing laboratory directly for specialist advice on the interpretation of results.
Please indicate which panel of lysosomal enzymes is required, along with relevant clinical details. This information is crucial for guiding the most appropriate analysis.
Reviewed / Updated On: 02/12/2025
