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.
CPT Codes 82657
Cost $200
Contact For further information contact Kellie King, MS or Tim Wood, PhD at 1-800-473-9411

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