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Test ID: GAUW    
Gaucher Disease, Mutation Analysis, GBA

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


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

Confirmation of a suspected clinical diagnosis of Gaucher disease


Carrier testing for individuals of Ashkenazi Jewish ancestry or who have a family history of Gaucher disease


Prenatal diagnosis in at-risk pregnancies

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

Mutations tested for include N370S, IVS(+1)G->A, 84GG, R496H, L444P, delta55bp, V394L, and D409H.

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
AFCAmniotic Fluid Culture/Genetic TestYesNo
MCCMaternal Cell Contamination, BYesNo

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

For prenatal specimens only: If amniotic fluid (non-confluent cultured cells) is received, amniotic fluid culture/genetic test will be added and charged separately. If chorionic villus specimen (non-confluent cultured cells) is received, fibroblast culture for genetic test will be added and charged separately. For any prenatal specimen that is received, maternal cell contamination studies will be added.

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

Polymerase chain reaction (PCR) analysis is used to test for the following mutations associated with Gaucher disease: 84G->GG, IVS2(+1)G->A, N370S, delta 55bp, V394L, D409H, L444P, and R496H.

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

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

Gaucher Disease, Mutation Analysis

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

Beta-glucocerebrosidase deficiency
Gaucher Disease