BGL - Clinical: Beta-Glucosidase, Leukocytes

Test Catalog

Test Name

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


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.

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Gaucher disease is an autosomal recessive lysosomal storage disorder caused by reduced or absent acid beta-glucosidase (glucocerebrosidase) enzyme activity. Absent or reduced activity of this enzyme results in accumulation of glucocerebroside in the lysosomes and interferes with the normal functioning of cells.


Clinical features and severity of symptoms are widely variable within Gaucher disease, but in general, the disorder is characterized by abnormal blood parameters such as decreased red blood cells (anemia) and/or platelets (thrombocytopenia), bone disease, and hepatosplenomegaly. Individuals with more severe types of Gaucher disease may have central nervous system (CNS) involvement. There are 3 clinical subtypes of the disorder that vary with respect to age of onset and clinical presentation. Type 1 is the most common type, representing 95% of all cases, and is generally characterized by bone disease, hepatosplenomegaly, anemia and thrombocytopenia, coagulation abnormalities, lung disease, and no CNS involvement. Type 2 typically has a very severe progression with onset in the first 2 years of life including neurologic disease, hepatosplenomegaly, and lung disease, with death usually between 2 and 4 years due to lung failure. Individuals with type 3 may have onset prior to 2 years of age, but the progression is not as severe and they may survive into the third and fourth decade. Finally, there is a perinatal lethal form associated with skin abnormalities and nonimmune hydrops fetalis, and a cardiovascular form presenting with calcification of the aortic and mitral valves, mild splenomegaly, and corneal opacities.


Treatment is available in the form of enzyme replacement therapy, substrate reduction therapy, and/or chaperone therapy for types 1 and 3. Individuals with type 3 may benefit from bone marrow transplantation. Currently, only supportive therapy is available for type 2.


The incidence of type 1 ranges from 1 in 20,000 to 200,000 in the general population, but is much more frequent among Ashkenazi Jews with an incidence between 1 in 400 and 900. Types 2 and 3 both have an incidence of approximately 1 in 100,000 in the general population.


A diagnostic workup for Gaucher disease may demonstrate the characteristic finding of "Gaucher cells" on bone marrow examination. Significantly reduced or absent enzyme activity of acid beta-glucosidase is diagnostic. Additionally, the biomarker, glucopsychosine is elevated in symptomatic patients and supports a diagnosis of Gaucher disease (GPSY / Glucopsychosine, Blood Spot). A targeted mutation panel may allow for detection of disease-causing mutations in affected patients (GAUP / Gaucher Disease, Mutation Analysis, GBA). In addition, full sequencing of the GBA gene allows for detection of disease-causing mutations in affected patients in whom a targeted mutation panel identifies no mutations or only a single mutation (GBAZ / Gaucher Disease, Full Gene Analysis).

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

> or =8.7 nmol/h/mg protein

Note: Results from this assay do not reflect carrier status because of individual variation of beta-glucosidase enzyme levels. For carrier testing, order molecular test GAUP / Gaucher Disease, Mutation Analysis, GBA.

Interpretation Provides information to assist in interpretation of the test results

Individuals affected with Gaucher disease will have enzyme levels less than 8.7 nmol/h/mg protein. In our experience some carriers will also have less than 8.7 nmol/h/mg protein activity.

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

Carrier testing using this assay is not reliable. Use molecular test GAUP / Gaucher Disease, Mutation Analysis, GBA for this purpose.

Clinical Reference Recommendations for in-depth reading of a clinical nature

1. Martins AM, Valadares ER, Porta G, et al: Recommendations on diagnosis, treatment, and monitoring for Gaucher disease. J Pediatr 2009 Oct;155(4 Suppl):S10-S18

2. Grabowski GA, Petsko GA, Kolodny EH: Chapter 146: Gaucher Disease. In Scriver's The Online Metabolic and Molecular Basis of Inherited Disease. Edited by D Valle, AL Beaudet, B Vogelstein, et al. New York, McGraw-Hill Medical Division. Accessed 3/17/2015. Available at

3. Pastores GM, Hughes DA: Gaucher disease. In GeneReviews. Edited by RA Pagon, MP Adam, HH Ardinger, et al. University of Washington. Accessed 3/17/2015. Available at

4. Weinreb NJ, Andersson HC, Banikazemi M, et al: Prevalence of type 1 Gaucher disease in the United States. Arch Intern Med 2008;168:326-328

Special Instructions and Forms Library of PDFs including pertinent information and consent forms, specimen collection and preparation information, test algorithms, and other information pertinent to test