Pompe Disease

Biochemistry Blood Sciences Test

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Specimen Type

EDTA sample

Pre-analytical handling requirements

None, a fresh EDTA sample is used to make a blood spot card in the laboratory.

Reference ranges and test units

Age and sex appropriate reference ranges and units are reported with all clinical results.

Test Use

Please refer to: https://labtestsonline.org.uk/

Performing laboratory

This test is sent to an external laboratory for analysis. Locations of all external laboratories are quoted on the result reports, and can be found on the ‘Procedure Catalogue’ in EPIC. Follow-up, confirmatory testing is required in low enzyme activity. These requests are triaged by the Genomics Department.

Turnaround Time 

2 – 3 weeks

Add-on availability

This test cannot be added on to an existing sample held within the laboratory. A fresh, individual sample is required for testing.

UKAS accreditation

Please refer to the UKAS website for test accreditation status.

Search UKAS accredited organisations

 

 

 

Specimen Labelling Procedure