Referred Tests
| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing. | |
Test ID: PDBS
Pompe Disease, Blood Spot
Useful For 
Suggests clinical disorders or settings where the test may be helpful
Evaluation of patients with a clinical presentation suggestive of Pompe disease (muscle hypotonia, weakness, or cardiomyopathy) outside of the newborn screening setting
Highlights
This test is used to diagnose Pompe disease and is based upon a ratio calculated between the creatine and creatinine ratio and the activity of acid-alpha glucosidase (GAA).
This test can help differentiate true cases of infantile and late onset Pompe disease from false-positive cases such as carriers and pseudodeficiency of GAA enzyme.
A positive test result supports the utility of follow-up molecular genetic analysis of the GAA gene.
Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
See Newborn Screen Follow-up for Pompe Disease in Special Instructions.
Special Instructions Library of PDFs including pertinent information and forms related to the test
Method Name A short description of the method used to perform the test
Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)
NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.
Yes
Reporting Name Lists a shorter or abbreviated version of the Published Name for a test
Pompe Disease, BS