Test ID: GBAZ
Gaucher Disease, Full Gene Analysis, Varies
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 alterations 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 beta-glucocerebrosidase 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 ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| CULFB | Fibroblast Culture for Genetic Test | Yes | No |
Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
For skin biopsy or cultured fibroblast specimens, fibroblast culture testing will be performed at an additional charge. If viable cells are not obtained, the client will be notified.
See Newborn Screen Follow-up for Gaucher Disease.
For more information, see Newborn Screening Act Sheet Gaucher Disease: Decreased Acid Beta-Glucosidase.
Special Instructions Library of PDFs including pertinent information and forms related to the test
- Molecular Genetics: Congenital Inherited Diseases Patient Information
- Informed Consent for Genetic Testing
- Blood Spot Collection Card-Spanish Instructions
- Newborn Screening Act Sheet Gaucher Disease: Decreased Acid Beta-Glucosidase
- Newborn Screen Follow-up for Gaucher Disease
- Blood Spot Collection Card-Chinese Instructions
- Informed Consent for Genetic Testing (Spanish)
- Blood Spot Collection Instructions
Method Name A short description of the method used to perform the test
Polymerase Chain Reaction (PCR) followed by DNA Sequencing
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
Beta-glucocerebrosidase deficiency
Beta-Glucosidase
GBA
GBA Gene
Glucocerebrosidase
Glucosidase