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ACID Alpha-Glucosidase Enzyme Analysis

Omics test Model
Test Code B0019
Test Summary

This test detects acid alpha-glucosidase activity.

Turn Around Time 12 days
Acceptable Sample Types Dried Blood Spots
Acceptable Billing Types Institutional Billing , Self (patient) Payment
NY Approved Yes
Self (patient) Price $108.90
Institutional Price $108.90
*TAT starts after the sample and all required sample information is received at the processing laboratory.

**The CPT codes listed are in accordance with Current Procedural Terminology, a publication of the American Medical Association, and are provided for informational purposes only. CPT coding is the sole responsibility of the billing party.

This testing service has not been cleared or approved by the U.S. Food and Drug Administration. Testing services may not be licensed in accordance with the laws in all countries. The availability of specific test offerings is dependent upon laboratory location.

Test Description

This test detects acid alpha-glucosidase enzyme activity that has been associated Pompe disease.

Indications for Testing

This test may be appropriate for individuals with a clinical suspicion of Pompe disease and/or individuals with a family history of this condition.

Condition Description

Pompe disease is a glycogen storage disorder characterized by a deficiency of the lysosomal enzyme acid-alpha glucosidase. There are three types of Pompe disease: infantile-onset, non-classic infantile-onset, and late-onset. The infantile-onset is the classic form where symptoms begin a few months after birth. Affected infants present with myopathy, hypotonia, hepatomegaly, and heart defects. They are usually described as “floppy”, have difficulty feeding, and fail to thrive. If left untreated, death from heart failure occurs in the first year of life. Late-onset Pompe disease is defined onset before age 12 months without cardiomyopathy and all individuals with onset after age 12 months. Pompe disease is estimated to affect 1 in 40,000 individuals in the United States and varies among different ethnic groups.

Test Methods and Limitations

Tandem mass spectrometry analysis can be coupled with liquid chromatography, a technique referred to as LC-MS/MS. In this methodology, chromatography is used to separate analytes of interest prior to measurement by the mass spectrometer. This separation reduces interference from matrix components and can also allow for the measurement of analytes that have the same mass (isobaric species), thereby improving analytical specificity compared to MS/MS.

Detailed Sample Requirements

Dried Blood Spots
Test Details Page
Collection Container(s) Dried blood spot card

Follow kit instructions. Briefly, allow blood to saturate the card until indicated areas are filled and blood has soaked through the card. Air dry the card at ambient temperature for at least 3 hours.

  • NBS: Please contact Revvity Omics to request the StepOne® kit.
  • Gene Sequencing: Please contact Revvity Omics to request the DBS collection kit.
  • For pre-punched DBS: The required minimum is 6 punches
Sample Condition Follow the instructions provided with the collection set. Store the dried blood at ambient temperature for up to two days. If the specimen cannot be sent as soon as it is dry, the filter paper should be placed in a sealable plastic bag and stored in a refrigerator (≤ 8°C) or preferably in a freezer.
Shipping Follow kit instructions. Double bag and ship overnight at ambient temperature.