Test Catalog

Test ID: BGL    
Beta-Glucosidase, Leukocytes

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

Diagnosis of Gaucher disease

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

 

Highlights

Gaucher disease (GD) is a lysosomal storage disorder that encompasses a spectrum of clinical features ranging from asymptomatic to perinatal lethal.

 

Type 1 is the most common form of GD (95% of cases) and is the presentation commonly found among Ashkenazi Jewish patients.

 

Diagnosis of GD depends on the demonstration of absent or deficient activity of acid beta-glucosidase in leukocytes or other nucleated cells.

 

Because of the overlap in enzyme activity between carriers and noncarriers, this test cannot be used to establish carrier status.

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

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

Fluorometric

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

Beta-Glucosidase, Leukocytes

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

Acid Beta-Glucosidase
Beta-Glucosidase
Gaucher's Disease
GBA Deficiency
GD 1
Glucocerebrosidase
Glucocerebrosidase Deficiency
Glucosidase, Beta