Test Catalog

Test ID: GBAZ    
Gaucher Disease, Full Gene Analysis

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 genetic test or proper submission of the test request

Testing includes full gene sequencing of the GBA gene.

 

Risk alleles for Parkinson disease with no known GBA enzyme reduction or Gaucher disease association will only be reported in patients over 18 years old unless otherwise requested.

Reflex Tests Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test IDReporting NameAvailable SeparatelyAlways Performed
CULFBFibroblast Culture for Genetic TestYesNo

Testing Algorithm Delineates situations 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.

 

See Newborn Screen Follow-up for Gaucher Disease in Special Instructions.

 

For more information, see Newborn Screening Act Sheet Gaucher Disease: Decreased Acid Beta-Glucosidase in Special Instructions.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis

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

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Gaucher Disease, Full Gene Analysis

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

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