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Test ID: GBAMS    
Gaucher Disease, Full Gene Analysis

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 a diagnosis of Gaucher disease

 

Carrier screening in cases where there is a family history of Gaucher disease, but an affected individual is not available for testing or disease-causing mutations have not been identified

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

Testing includes full gene sequencing of the GBA 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 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

GBAMS: Polymerase Chain Reaction (PCR) Followed by 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

Gaucher Disease, Full Gene Analysis

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

Beta-glucocerebrosidase deficiency
Beta-Glucosidase
Glucocerebrosidase
Glucosidase
GBA Gene
GBA