Guthrie card (minimum 2 spots, 4 spots preferred), apply 100uL blood to each Guthrie spot. Ensure each circle is completely filled to the outside before starting to fill the next circle. Air dry flat at room temperature. Ensure bloodspots are dried before sending to the laboratory. Blood is stable on the Guthrie card once dried at room temperature. Place in paper (NOT plastic) envelope.
If sending EDTA whole blood, the sample must arrive at the LabPLUS laboratory within 24 hours of collection between Monday 0800 to Friday Midday, excluding public holidays. Staff will apply blood to the Guthrie card and dry at room temperature before sending to third party laboratory for testing. Sample must not be frozen. Do NOT centrifuge.
Turnaround Time: Between 6 weeks and 8 weeks
For urgent requests please contact LabPlus.
Pompe disease (Glycogen Storage Disease Type II, acid maltase deficiency) is a lysosomal storage disorder with a varied phenotype. The severe form is characterised by a severe cardiac and skeletal myopathy in infants (Infantile Pompe disease). If this is suspected, diagnosis should be made urgently including assessment of CRIM status. This is particularly important as treatment is available for this condition.
For suspected Infantile Onset Pompe Disease - consider the following tests:
1. Alpha glucosidase activity: dried blood spot on Guthrie Card
2. Cross Reactive Immunological Material (CRIM) status: Skin biopsy for fibroblast culture sent urgently to Adelaide
3. GAA gene sequencing: 3-5 mL EDTA blood for DNA extraction sent urgently to Adelaide
The adult form (late onset Pompe Disease) is notable for slowly progressive myopathy, affecting proximal and spinal muscles as well as the diaphragm. Cardiac disease in these patients is usually not present. CKs in both types may be normal to mildly elevated. An intermediate phenotype also exists. Muscle biopsy reveals an accumulation of glycogen.