Collect an EDTA specimen and this will be processed in the Metabolic Laboratory. Measured volume of blood is required to be applied.
Collect a Genzyme blood spot card kit for this testing . Kits include a reply paid envelope to the National Referral Laboratory which is used after the card has been processed by CSR.
Please note this assay is being funded by Genzyme with no cost to the patient. If the correct collection cards are not used there is a $368.00 fee applicable( no Medicare rebate available)
APPLICATION: Alpha-1,4-glucosidase analysis will be done on the dried blood spot. Alph-1,4-glucosidase is deficient in Pompe disease. Urine can be used to test for (Glc)4 tetrasaccharide, which is elevated in Pompe disease- this is research only assay. Alpha-1,4-glucosidease can also be done on cultured skin fibroblast or muscle tissue.