Glycogen brancher

GSD IV

Chemical Pathology - Enzyme

For the diagnosis of glycogen branching enzyme deficiency (glycogen storage disease type IV)

1. 5 - 10 mL lithium heparin whole blood or

2. Muscle biopsy or

3. Liver biopsy or

4. Chorionic villi or

5. Cultured chorionic villi or

6. Cultured amniotic cells or

7. Cultured fibroblasts

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

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

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

4. Contact the Enzyme Laboratory PRIOR to sampling and shipping

5. Contact the Enzyme Laboratory PRIOR to sampling and shipping

6. Contact the Enzyme Laboratory PRIOR to sampling and shipping

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

1. 4 to 6 weeks

2. 4 to 6 weeks

3. 4 to 6 weeks

4. As soon as practically possible

5. As soon as practically possible

6. As soon as practically possible

7. 4 to 6 weeks

Andersen disease, Branching enzyme deficiency, Glycogen branching enzyme deficiency, Brancher deficiency, GSD type IV, GSD4

1. Yes

2. Yes

3. Yes

4. Yes

5. Yes

6. Yes

7. Yes