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ACID Alpha-Glucosidase Enzyme Analysis
ACID Alpha-Glucosidase Enzyme Analysis
ACID Alpha-Glucosidase Enzyme Analysis
This test detects acid alpha-glucosidase activity.
| 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 |
**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.
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Test information
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
| Collection Container(s) |
Dried blood spot card |
|---|---|
| Collection |
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.
|
| 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. |
Resources
How To Order
Choose Your Test
Select the correct test for your patient, and download and fill out the Clinical Genomics test requisition form.
Collect Sample
Obtain a sample for testing from the patient using one of the provided Revvity Omics test packs.
Send Samples
Send samples and all required forms back to Revvity for processing using pre-paid shipping label.
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