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
FDA Category
Laboratory Developed Test
Specimen Requirements
| Volume | Type | Container | Collect Temperature | Transport Temperature | Special Instructions |
|---|---|---|---|---|---|
| 3 mL | Whole blood | EDTA (Lavender) | Refrigerated | 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. |
Alternate Specimen Requirements
| Volume | Type | Container | Collect Temperature | Transport Temperature | Special Instructions |
|---|---|---|---|---|---|
| 3 mL | Whole blood | ACD A or B (Yellow) | Refrigerated | 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. | |
| 3 mL | Whole blood | Sodium heparin (Green) | Refrigerated | 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. |
Minimum Specimen Requirements
| Volume | Type | Container | Collect Temperature | Transport Temperature | Special Instructions |
|---|---|---|---|---|---|
| 1 mL |
Stability
| Environmental Condition | Description |
|---|---|
| Refrigerated | 72 hours |
| Ambient | Unacceptable |
| Frozen | Unacceptable |
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.