Test Catalog

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

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

Due to reference range differences, PDBS is the appropriate test for patients older than 6 weeks of age. For patients 6 weeks of age or younger, order PD2T / Pompe Disease Second-Tier Newborn Screening, Blood Spot.


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.


Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Pompe Disease, BS