Beta-Glucosidase, Leukocytes




Test Mnemonic

GAUCHD

CPT Codes

  • 82963 - QTY (1)

Performing Laboratory

Mayo Clinic Dpt of Lab Med & Pathology


Specimen Requirements

Volume Type Container Collect Temperature Transport Temperature Special Instructions
6 mLWhole bloodEDTA (Lavender) RefrigeratedDraw 2 tubes. Deliver to Cleveland Clinic Laboratories ASAP on the day of collection. Draw Monday - Thursday only, and do not draw the day before a holiday. Specimen must be received at Cleveland Clinic Laboratories by 12:00 noon EST on Thursday. Send specimen in the original tube. Do not transfer blood to other containers. Specimen should be collected and packaged as close to shipping time as possible. Please submit the Biochemical Genetics Patient Information form with the specimen.

Minimum Specimen Requirements

Volume Type Container Collect Temperature Transport Temperature Special Instructions
2 mL     

Stability

Environmental Condition Description
Refrigerated4 days (preferred)
Ambient72 hours
FrozenUnacceptable

Days Performed

Varies

Turnaround Time

6 - 11 days

Methodology

Name Description
Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS) 

Reference Range

Special Info

It is recommended that the specimen arrive refrigerated within 96 hours of collection in order to be stabilized for optimal isolation of leukocytes. 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. Please include Biochemical Genetics Patient Information form with the specimen. Grossly hemolyzed specimens will be rejected.

Clinical Info

This test provides diagnostic testing for patients with clinical signs and symptoms suspicious for Gaucher disease. It is not intended for carrier detection. Individuals affected with Gaucher disease will have enzyme levels less than 3.53 nmol/h/mg protein. It has been shown that some carriers will also have less than 3.53 nmol/h/mg protein activity. Cautions: Enzyme levels may be normal in individuals receiving enzyme replacement therapy.

Patient Info Sheet