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, cultured fibroblasts, or dried blood spots. For leukocytes, please send 5-10 ml of whole blood in a green top (sodium heparin) tube. For dried blood spot collection, a minimum of three circles need to be filled in. Each circle should contain one drop of blood (about 100 microliters). See the link below for additional sample collection and handling instructions.

Sample Collection and Requirements

In addition, a dried blood spot or blood drawn in an EDTA tube can be used for Pompe disease molecular analysis and may be sent for DNA banking. Please indicate on the requisition if DNA should be banked for follow-up molecular testing.

Transport Whole blood samples (for leukocyte analysis) should be shipped at ambient temperature and must arrive at the laboratory within 24 hours of blood draw. Please contact the laboratory before transporting tissue for enzyme assay. Fresh tissue for culture should be sent by courier or 24-hour delivery.

For a dried blood spot: When the sample has dried 3-4 hours, fold cover at score line, over sample, and tuck into flap. Samples should be placed in the mail within 24 hours of collection. Overnight shipping is preferred.

Turnaround time 14 days
Cell culture can take 1-4 weeks and may lengthen turnaround time.
CPT Codes 82657
Cost Leukocytes or cultured fibroblasts: $200

Dried Blood Spot Analysis: A 50% discount will be applied for enzyme analysis from a dried blood spot reducing the price to $100.

Contact For further information contact one of our This email address is being protected from spambots. You need JavaScript enabled to view it. at 1-800-473-9411.

Biochemical Lab

The Biochemical Lab provides diagnostic and screening tests for a variety of inherited metabolic disorders.

Find out more