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Test ID: GAAZ    
Pompe Disease, Full Gene Analysis, Varies

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

Confirmation of diagnosis of Pompe disease (as a follow-up to biochemical analyses)

Reflex Tests Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test IDReporting NameAvailable SeparatelyAlways Performed
CULFBFibroblast Culture for Genetic TestYesNo

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

If skin biopsy is received, fibroblast culture will be performed at an additional charge.

 

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

Polymerase Chain Reaction (PCR) followed by DNA Sequencing

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 Full Gene Analysis

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

Acid Maltase Deficiency
Alpha Glucosidase
GAA Gene
Glycogen Storage Disease Type II (GSD II)
GSD II (Glycogen Storage Disease Type II)
Pompe Disease
GAAMS