GAABS - Overview: Acid Alpha-Glucosidase, Blood Spot

Test Catalog

Test Name

Test ID: GAABS    
Acid Alpha-Glucosidase, Blood Spot

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

Evaluation of patients of any age with a clinical presentation suggestive of Pompe disease (muscle hypotonia, weakness, or cardiomyopathy)

Testing Algorithm Delineates situation(s) 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 and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

Method Name A short description of the method used to perform the test

Fluorometric Enzyme Assay

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.

Conditional

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

Acid Alpha-Glucosidase, BS

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

Acid Alpha-Glucosidase
Acid Maltase Deficiency
Alpha-Glucosidase Deficiency
Pompe Disease
Glycogen Storage Disease Type II (GSD II)