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Beta Glucosidase, Leukocytes

Gaucher's Disease, Beta-Glucosidase, Leukocytes

Test Codes

Order as a Miscellaneous Send Out. EPIC: LAB6839, Beaker: XMISC, Mayo: BGL

Department

Send Outs

Instructions

Due to specimen stability, specimens can only be collected Monday – Thursday.

Specimen Collection Criteria

Collect (preferred specimen): One Yellow-top ACD (Solution B) tube.
Also acceptable: One Yellow-top ACD (Solution A) tube. 

Physician Office/Draw Specimen Preparation

Do not centrifuge or freeze. Maintain whole blood in original collection tubes, refrigerated (2-8°C or 36-46°F), prior to transport.

Preparation for Courier Transport

Transport: 6.0 mL whole blood, refrigerated (2-8°C or 36-46°F). (Minimum: 2.0 mL)

Rejection Criteria

• Grossly hemolyzed specimens.
• Specimens not collected and processed as indicated.

In-Lab Processing

Do not centrifuge or freeze. Maintain whole blood in original collection tubes, refrigerated (2-8°C or 36-46°F), prior to transport.

Transport: 6.0 mL whole blood, refrigerated (2-8°C or 36-46°F). (Minimum: 2.0 mL)

Storage

Specimen Stability for Testing:

Room Temperature (20-26°C or 68-78.8°F): 6 days
Refrigerated (2-8°C or 36-46°F): 6 days
Frozen (-20°C/-4°F or below): Unacceptable

Specimen Storage in Department Prior to Disposal:

Specimen retention time is determined by the policy of the reference laboratory. Contact the Send Outs Laboratory with any questions.

Laboratory

Sent to Mayo Medical Laboratories, Rochester, MN.

Performed

Varies.
Results available in 5-9 days.

Reference Range

By report. Results from this assay may not reflect carrier status because of individual variation of beta-glucosidase enzyme levels.

Test Methodology

Flow injection Analysis-Tandem mass Spectrometry (FIA-MS/MS).

Interpretation

Values expected for Gaucher's disease are < 0.05 U/10¹⁰ cells.  All values less than 0.08 U/10¹⁰ cells should be repeated. This method is not recommended for carrier detection unless a family study is done simultaneously.

Clinical Utility

This assay aids in the detection of Gaucher's disease.

Clinical Disease

Gaucher's disease is an inherited autosomal recessive disease caused by a deficiency of beta-glucosidase resulting in increased storage of glucosylceramide. There are three clinical types of Gaucher's disease. They are the adult/chronic, acute neuropathic/infantile, and subacute neuropathic/juvenile (splenomegaly and hepatomegaly are usually present). These are also designated Types I through III, respectively. Type I is usually found in Jewish kindred. Treatment with Ceredase^® is currently being used for moderate to severely affected patients. Involvement of the central nervous system is limited to the infantile type. Gaucher's cells are characteristic of the disease and are large histiocytes derived from endothelial cells and found in spleen, liver, bone marrow, lymph nodes, and lungs.

CPT Codes

82963

Contacts

Last Updated

9/3/2024