Pompe disease (Glycogen Storage Disease Type II) - Enzyme Analysis
| Disease name | Pompe disease (GSD, Type II) | |
| Enzyme Name | Alpha glucosidase | |
| Clinical info | Pompe disease is caused by a deficiency of the enzyme alpha-glucosidase (GAA), an enzyme that at normal levels will breakdown glycogen in the body. Infantile-onset Pompe disease is characterized by hypotonia, generalized muscle weakness and hypertrophic cardiomyopathy. Death generally occurs within the first year of life due to cardiac and respiratory failure. The later-onset form shows greater variability with a slowly progressive muscle weakness and respiratory insufficiency. The degree of enzyme deficiency is generally related to the severity and age of onset. | |
| Indications | Patients with suspected Pompe disease. Prenatal diagnosis and carrier testing via enzyme analysis are not available. | |
| Methodology | Assays will employ a 4-methylumbelliferyl substrate. | |
| Specimen Requirements | Enzyme activity can be measured in leukocytes or cultured fibroblasts. | |
| Transport | Please contact the laboratory before transporting tissue for enzyme assay. Fresh tissue for culture should be sent by courier or 24-hour delivery. Blood should be collected in a sodium heparin tube and shipped overnight. | |
| Turnaround time | 14 days Cell culture can take 1-4 weeks and may lengthen turnaround time. |
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| CPT Codes | 82657 | |
| Cost | $200 | |
| Contact | For further information contact Kellie King, MS or Tim Wood, PhD at 1-800-473-9411 | |
Form Needed
Download biochem-lab-request-form.pdf
Have Questions Need Support?
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Kellie King, MS, CGC
Biochemical Lab
The Biochemical Lab provides diagnostic and screening tests for a variety of inherited metabolic disorders.