Test Directory

This test is useful for the diagnosis of Pompe disease and provides diagnostic testing for individuals with decreased alpha-glucosidase activity on newborn screen or clinical signs and symptoms suspicious for Pompe disease.

Specimen Type: Whole Blood

Preferred Collection Container: Pale Yellow Top (ACD solution B)

Alternate Collection Container: Pale Yellow Top (ACD solution A) or Lavender Top (EDTA)

Desired Specimen Volume: 6 mL

1. Collect specimen Monday through Thursday only and not the day before a holiday.
2. Collect a pale yellow top (ACD solution B) tube via venipuncture.

Submit specimen with Biochemical Genetics Patient Information form.

1. Transport 6 mL of whole blood in the original collection container. Do not aliquot.

Transport to the laboratory refrigerated. 

• Gross hemolysis

See patient report.

Pseudodeficiency results in low measured acid alpha-glucosidase activity, but it is not consistent with Pompe disease. Molecular analysis (GAAN / Pompe Disease, GAA Gene Sequencing with Deletion/Duplication, Varies) should be performed to resolve the clinical question.

Additional biochemical or molecular testing is recommended to confirm a diagnosis if an enzyme deficiency is detected by this screening test.

Enzyme levels may be normal in individuals receiving enzyme replacement therapy.

• Acid Alpha-Glucosidase
• Acid Maltase Deficiency
• Alpha-Glucosidase Deficiency
• Glycogen Storage Disease Type II (GSD II)
• Pompe Disease