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Acid Alpha-Glucosidase, Leukocytes
MessageCollect specimen Monday-Thursday before 1430 only and not the day before a holiday.
Test Code
LAB01193
Alias/See Also
LAB01193
Mayo TC: GAAW
Pompe
Mayo TC: GAAW
Pompe
CPT Codes
82657
Preferred Specimen
6 mL Lavender (EDTA) - Whole Blood
Minimum Volume
2 mL Lavender (EDTA)
Other Acceptable Specimens
Yellow Top (ACD)
Transport Temperature
Refrigerated
Specimen Stability
Refrigerated: 6 days
Methodology
LC-MS/MS
Report Available
5-9 days
Limitations
Pseudodeficiency results in low measured acid alpha-glucosidase activity, but it is not consistant with Pompe disease. Molecular analysis should be performed to resolve the clinical question.
Enzyme levels may be normal in individuals receiving enzyme replacement therapy.
Enzyme levels may be normal in individuals receiving enzyme replacement therapy.
Reference Range
Acid Alpha-Glucosidase:
> or = 1.50 nmol/hour/mg protein
An interpretive report is provided.
> or = 1.50 nmol/hour/mg protein
An interpretive report is provided.
Clinical Significance
This test provides diagnostic testing for individuals with decreased alpha-glucosidase activity on newborn screen or clinical signs and symptoms suspicious for Pompe disease.
When abnormal result are detected, a detailed interpretation is given, including an overview of the results and of their significance, a correlation to available clinical information, elements of differential diagnosis, recommendations for additional biochemical testing and in vitro, confirmatory studies (enzyme assay, molecular analysis), and a phone number to reach one of the laboratory directors in case the referring physician has additional questions.
When abnormal result are detected, a detailed interpretation is given, including an overview of the results and of their significance, a correlation to available clinical information, elements of differential diagnosis, recommendations for additional biochemical testing and in vitro, confirmatory studies (enzyme assay, molecular analysis), and a phone number to reach one of the laboratory directors in case the referring physician has additional questions.
Performing Laboratory
Mayo Clinic Laboratories