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 ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| FBC | Fibroblast Culture for Genetic Test | Yes | No |
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/60711: Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)
FBC/80333: 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
Beta-Glucosidase
Glucocerebrosidase
Glucosidase
GBA Gene
GBA
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