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.
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 ID||Reporting Name||Available Separately||Always Performed|
|FBC||Fibroblast Culture for Genetic Test||Yes||No|
|AFC||Amniotic Fluid Culture/Genetic Test||Yes||No|
|MCC||Maternal Cell Contamination, B||Yes||No|
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
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