Fabry Disease

Specimen type:

EDTA sample

Special pre-analytical handling requirements: 

None, an 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. Reference ranges and units can also be found on the ‘Procedure Catalogue’ in EPIC.

Test Use

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

Performing laboratory: 

This test is referred 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 – 4 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.

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