Test Catalog

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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 (Cre) and creatinine (Crn) 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.

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