Fabry Disease (Whole Blood)

Test information: A rare inherited disease caused by the deficiency of an enzyme called alpha-galactosidase A. It can have varied symptoms such as pain in the hands, feet and specific skin rashes. This is the 2nd line test for Fabry disease, after a positive dried blood spot test.

Specimen Type(s)

• Blood;

Other Acceptable Specimen Type(s)

N/A

Specimen Container - Adult

• Purple Top BD;

Specimen Container - Paediatric

• Lilac Top Microtainer BD;

Analytes

• N/A;

Part of a test profile?

N/A

Volume (min) of sample to be sent to laboratory

Adult- One FULL EDTA (4ml), Paed min 3 ml

Patient Preparation, Sample Handling and Transport

Sample can be taken anytime during the day Monday to Wednesday, or before midday on Thursday, and immediately hand delivered to Clinical Chemistry.

Maximum add on time

N/A

Units and Reference Ranges / Interpretation

Please see the report.

UKAS number

9865

UKAS accredited test?

Yes

Comments

This is the 2nd line test for Fabry disease, after a positive dried blood spot test.

If you have any queries about a test or results interpretation please contact us.