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Fabry Disease (Dried Blood Spot)

Alias: Alpha-galactosidase-A, α-galactosidase A

Discipline: Clinical Chemistry

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)
Specimen Container - Adult
  • Guthrie Card;
Specimen Container - Paediatric
  • Guthrie Card;
  • N/A;
Part of a test profile?
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
Units and Reference Ranges / Interpretation
Please see the report.
UKAS number
UKAS accredited test?
Guthrie Cards can be requested from Clinical Chemistry.

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

Last updated: 12-03-2024