Gaucher Disease (GBA), Enzyme Activity in Leukocytes




Test Mnemonic

GAUCHD

CPT Codes

  • 82657 - QTY (1)

Aliases

  • Glucosidase

Includes

  • Gaucher GBA Activity Leukocytes
  • Gaucher GBA Activity Leukocytes Interp

Performing Laboratory

ARUP


Specimen Requirements

Volume Type Container Collect Temperature Transport Temperature Special Instructions
3 mLWhole bloodEDTA (Lavender) RefrigeratedDraw Monday - Thursday only, and do not draw the day before a holiday. Specimen must be received in the Main Campus Send Outs laboratory by noon on Thursday. Clinical Indication for testing is required, submit completed patient history form with specimen.

Alternate Specimen Requirements

Volume Type Container Collect Temperature Transport Temperature Special Instructions
3 mLWhole bloodACD A or B (Yellow) RefrigeratedDraw Monday - Thursday only, and do not draw the day before a holiday. Specimen must be received in the Main Campus Send Outs laboratory by noon on Thursday. Clinical Indication for testing is required, submit completed patient history form with specimen.
3 mLWhole bloodSodium heparin (Green) RefrigeratedDraw Monday - Thursday only, and do not draw the day before a holiday. Specimen must be received in the Main Campus Send Outs laboratory by noon on Thursday. Clinical Indication for testing is required, submit completed patient history form with specimen.

Minimum Specimen Requirements

Volume Type Container Collect Temperature Transport Temperature Special Instructions
1 mL     

Stability

Environmental Condition Description
Refrigerated72 hours
AmbientUnacceptable
FrozenUnacceptable

Days Performed

Varies

Turnaround Time

4 - 11 days

Methodology

Name Description
Fluorometry (FLM) 

Reference Range

Gaucher GBA Activity Leukocytes
Sex Age From Age To Type Range Range Unit
       4.6 - 12.0 nmol hydrolyzed/hr/mg protein 

Special Info

Draw Monday - Thursday only, and do not draw the day before a holiday. Specimen must be received in the Main Campus Send Outs laboratory by noon on Thursday. Clinical Indication for testing is required, submit completed patient history form with specimen. Grossly hemolyzed specimens will be rejected. This test is New York state approved.

Clinical Info

This test is useful to diagnose Gaucher disease only. It is not indicated for carrier screening.

Clinical Limitation

This test is not indicated for carrier screening.

Patient Info Sheet