Test Catalog

Test ID: PD2T    
Pompe Disease Second-Tier Newborn Screening, Blood Spot

Useful For Suggests clinical disorders or settings where the test may be helpful

Second-tier testing of newborns with an abnormal primary screening result for Pompe disease (decreased acid alpha-glucosidase enzyme activity)


Follow-up testing for evaluation of an abnormal newborn screening result for Pompe disease


This test is used as a second-tier newborn screen for 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


For more information, see Newborn Screening Act Sheet Pompe Disease: Decreased Acid Alpha-Glucosidase 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.


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

Pompe Disease 2ND Tier NBS, BS

Aliases Lists additional common names for a test, as an aid in searching

Pompe disease