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Test Catalog

Test ID: BGLT    
Beta-Glucosidase, Fibroblasts

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

Diagnosis of Gaucher disease

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

Not recommended for carrier detection; instead order GAUP / Gaucher Disease, Mutation Analysis, GBA.


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.

Additional Tests Lists test(s) that are always performed, at an additional charge, with the initial test(s)

Test IDReporting NameAvailable SeparatelyAlways Performed
FIBRFibroblast CultureYesYes
CRYOBCryopreserve for Biochem StudiesNoYes

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

When this test is ordered, a fibroblast culture and cryopreservation for biochemical studies will always be performed at an additional charge. However, for multiple lysosomal enzyme assays on a patient utilizing fibroblast culture, only 1 culture is required regardless of the number of enzyme assays ordered. If viable cells are not obtained within 10 days, client will be notified.

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

BGLT: Fluorometric Enzyme Assay

FIBR: Cultivated from Biopsy as Monolayer

CRYOB: Fibroblast Subculture Followed by Cryopreservation and Storage

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

Beta-Glucosidase, Fibroblasts

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

Acid Beta-Glucosidase
Gaucher's Disease
GBA Deficiency
GD 1
Glucocerebrosidase Deficiency
Glucosidase, Beta
Gaucher Disease, if test not specified always order BGL