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Test ID: GAAKM    
Pompe Disease, Known Mutation

Secondary ID A test code used for billing and in test definitions created prior to November 2011

89897

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

Conditional

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) for individuals from families in which a known familial mutation(s) has been previously identified

 

Carrier screening for individuals at risk for known familial mutation(s) in the GAA gene

Reflex Tests Lists test(s) that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial test(s)

Test IDReporting NameAvailable SeparatelyAlways Performed
FBCFibroblast Culture for Genetic TestYesNo

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

If skin biopsy is received, fibroblast culture for genetic test will be added and charged separately.

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

GAAKM: Polymerase Chain Reaction (PCR) Followed by Site-Specific DNA Sequence Analysis
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)
FBC: Cell Culture

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

Pompe Disease, Known Mutation

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