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Test ID GBAW Beta-Glucosidase, Leukocytes

Ordering Guidance

This test is preferred for diagnostic testing but does not reliably detect carriers. For carrier detection, order GBAZ / Gaucher Disease, Full Gene Analysis, Varies or CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies (specify GBA Gene List ID IEMCP-M4F13T). Call 800-533-1710 to discuss testing options.

Shipping Instructions

For optimal isolation of leukocytes, it is recommended the specimen arrive refrigerated within 6 days of collection to be stabilized. Collect specimen Monday through Thursday only and not the day before a holiday. Specimen should be collected and packaged as close to shipping time as possible.

Specimen Required


Preferred: Yellow top (ACD solution B)

Acceptable: Yellow top (ACD solution A) or lavender top (EDTA)

Specimen Volume: 6 mL

Collection Instructions: Send specimen in whole blood original tube. Do not aliquot.


1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Biochemical Genetics Patient Information (T602)

3. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.

Useful For

Diagnosis of Gaucher disease


This test is not intended for carrier detection.

Genetics Test Information

This test provides diagnostic testing for patients with clinical signs and symptoms suspicious for Gaucher disease.


Enzyme testing is included in the diagnostic workup for infants following a positive newborn screen result for Gaucher disease.

Method Name

Flow Injection Analysis-Tandem Mass Spectrometry

Reporting Name

Beta-Glucosidase, Leukocytes

Specimen Type

Whole Blood ACD

Specimen Minimum Volume

2 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole Blood ACD Refrigerated (preferred) 6 days
  Ambient  6 days

Reject Due To

Gross hemolysis Reject

Clinical Information

Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by reduced or absent acid beta-glucosidase (glucocerebrosidase) enzyme activity resulting in accumulation of glucosylceramide (glucocerebroside) and glucopsychosine (glucosylsphingosine) in the lysosomes. This interferes with the normal functioning of cells and leads to clinical abnormalities characteristic of the disease.


While clinical features and severity of symptoms are widely variable within Gaucher disease, common features include abnormal blood parameters such as decreased red blood cells (anemia) and/or platelets (thrombocytopenia), bone disease, and hepatosplenomegaly. Three clinical subtypes have been identified based on the presence and progression of central nervous system (CNS) involvement. 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 or acute neuronopathic (GD2), 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 or chronic neuronopathic (GD3) 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, within the spectrum, 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 (ERT), substrate reduction therapy, and 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. Emerging therapies currently listed at include gene therapy and in utero ERT.


The incidence of type 1 ranges from 1 in 20,000 to 200,000 in the general population, but it is much more frequent among Ashkenazi Jewish population 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 along with elevation of the biomarker, glucopsychosine (GPSY / Glucopsychosine, Blood Spot; GPSYP / Glucopsychosine, Plasma; GPSYW / Glucopsychosine, Blood) is diagnostic. Molecular analysis of the GBA gene allows for detection of disease-causing variants in affected patients (GBAZ / Gaucher Disease, Full Gene Analysis, Varies or CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies [specify GBA Gene List ID IEMCP-M4F13T]).

Reference Values

≥3.53 nmol/hour/mg protein

An interpretative report will be provided.

Note: Results from this assay do not reflect carrier status because of individual variation of beta-glucosidase enzyme levels.


Individuals affected with Gaucher disease will have enzyme levels less than 3.53 nmol/h/mg protein. In our experience some carriers will also have less than 3.53 nmol/h/mg protein activity.


Enzyme levels may be normal in individuals receiving enzyme replacement therapy.

Clinical Reference

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. Daykin EC, Ryan E, Sidransky E: Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes. Mol Genet Metab. 2021 Feb;132(2):49-58. doi: 10.1016/j.ymgme.2021.01.002

3. Pastores GM, Hughes DA: Gaucher disease. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2000. Updated June 21, 2018. Accessed March 1, 2022. 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 Feb;168:326-328

5. Elliott S, Buroker N, Cournoyer JJ, et al: Pilot study of newborn screening for six lysosomal storage diseases using tandem mass spectrometry. Mol Genet Metab. 2016 Aug;118(4):304-309

Method Description

The specimens are incubated with a mix of substrate and internal standard for acid sphingomyelinase, beta-glucocerebrosidase, acid alpha-glucosidase, alpha-galactosidase, galactocerebrosidase and alpha-L-iduronidase. The sample is then purified by liquid-liquid extraction. The extract is evaporated and reconstituted before analysis by tandem mass spectrometry.(Unpublished Mayo method)

Day(s) Performed

Preanalytical processing: Monday through Saturday

Testing performed: Monday, Wednesday

Report Available

5 to 9 days

Test Classification

This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information


LOINC Code Information

Test ID Test Order Name Order LOINC Value
GBAW Beta-Glucosidase, Leukocytes 32540-7


Result ID Test Result Name Result LOINC Value
606273 Beta-Glucosidase, Leukocytes 32540-7
606274 Interpretation 59462-2
606275 Reviewed By 18771-6