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Pompe Disease (Dried Blood Spot)

Alias: Acid-maltase disease, Glycogen storage disease II, acid Alpha-glucosidase

Discipline: Clinical Chemistry

Test information: For the diagnosis of Pompe disease, which is a rare genetic disorder occurring due to mutations in the GAA gene, which encodes the acid alpha-glucosidase enzyme. This enzyme normally breaks down glycogen into glucose. In the absence or reduced activity of this enzyme, excessive amounts of glycogen accumulates throughout the cells, damaging them and leading to symptoms, including muscle weakness, breathing problems, and eating difficulties. "Pompe Disease (Dried Blood Spot)" is the first-line test for Pompe Disease in children and adult. For Infantile Pompe Disease, please request "Pompe Disease (Whole Blood)" .

Specimen Type(s)
  • Dried blood spot;
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
4 spots
Patient Preparation, Sample Handling and Transport
Sample can be taken any time/day. Please do not use this test for Infantile Pompe, instead request "Pompe Disease (Whole Blood)".
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: 09-06-2023