Fabry Disease (Dried Blood Spot)

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. Note, dried blood spots are used in the first-line testing, and if required, follow-up testing with whole blood sample.

Specimen Type(s)

• Blood;

Other Acceptable Specimen Type(s)

N/A

Specimen Container - Adult

• Guthrie Card;

Specimen Container - Paediatric

• Guthrie Card;

Analytes

• N/A;

Part of a test profile?

No

Volume (min) of sample to be sent to laboratory

1 spot

Patient Preparation, Sample Handling and Transport

Sample can be taken any time/day. Only available to Secondary Care consultants, and will be cross-charged.

Maximum add on time

N/A

Units and Reference Ranges / Interpretation

Please see the report.

UKAS number

9865

UKAS accredited test?

Yes

Comments

Guthrie Cards can be requested from Clinical Chemistry.

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