α-1,4-glucosidase

GSD II

Chemical Pathology - Enzyme

For the diagnosis of glycogen storage disease type II (Pompe disease). Patients with GSD II exhibit deficiencies in the enzyme α-1,4-glucosidase

1. 5 - 10 mL lithium heparin whole blood or

2. Dried blood spot or

3. Chorionic villi or

4. Cultured chorionic villi or

5. Cultured amniotic cells or

6. Cultured fibroblasts or

7. Liver biopsy or

8. Muscle biopsy

1. Send whole blood at ambient temperature to reach lab ideally within 24 hours of collection

2. Send dried bloodspot sample by first class post. Protect from heat and humidity during shipping

3. Contact the Enzyme Laboratory PRIOR to sampling and shipping

4. Contact the Enzyme Laboratory PRIOR to sampling and shipping

5. Contact the Enzyme Laboratory PRIOR to sampling and shipping

6. Send flask completely filled with medium at room temperature a in well insulated container. To reach lab ideally within 24 hours

7. Snap freeze immediately. Send sample on dry ice. Do NOT allow sample to thaw. To reach lab ideally within 24 hours

8. Snap freeze immediately. Send sample on dry ice. Do NOT allow sample to thaw. To reach lab ideally within 24 hours

1. 4 to 6 weeks

2. 4 to 6 weeks

3. As soon as practically possible

4. As soon as practically possible

5. As soon as practically possible

6. 4 to 6 weeks

7. 4 to 6 weeks

8. 4 to 6 weeks

Acid maltase, Pompe disease, α-glucosidase, α-glucosidase deficiency, GSD type II, GSD2

1. Yes

2. Yes

3. Yes

4. Yes.

5. Yes

6. Yes

7. Yes

8. Yes