Alpha-Galactosidase Enzyme Activity, Leukocytes
Test Mnemonic
AGALAC
CPT Codes
- 82657 - QTY (1)
Aliases
- Fabry Disease Enzyme Test
Includes
- Alpha-Galactosidase, Leukocytes
- Interpretation
- Reviewed By
Performing Laboratory
Mayo Clinic Dpt of Lab Med & Pathology
FDA Category
Laboratory Developed Test
Specimen Requirements
| Volume | Type | Container | Collect Temperature | Transport Temperature | Special Instructions |
|---|---|---|---|---|---|
| 6 mL | Whole blood | ACD B (Yellow) | Refrigerated | Collect Monday - Wednesday only. Do not collect specimen on the day before a major holiday. Specimen must be sent to Cleveland Clinic Laboratories on the same day as collection. Send specimen in original tube. Do not transfer to other containers. |
Alternate Specimen Requirements
| Volume | Type | Container | Collect Temperature | Transport Temperature | Special Instructions |
|---|---|---|---|---|---|
| 6 mL | Whole blood | ACD A (Yellow) | Refrigerated | Collect Monday - Thursday only. Do not collect specimen on the day before a major holiday. Send specimen in original tube. Do not transfer to other containers. | |
| 6 mL | Whole blood | EDTA (Lavender) | Refrigerated | Collect Monday - Thursday only. Do not collect specimen on the day before a major holiday. Send specimen in original tube. Do not transfer to other containers. |
Minimum Specimen Requirements
| Volume | Type | Container | Collect Temperature | Transport Temperature | Special Instructions |
|---|---|---|---|---|---|
| 2 mL |
Stability
| Environmental Condition | Description |
|---|---|
| Refrigerated | 6 days (preferred) |
| Ambient | 6 days |
| Frozen | Unacceptable |
Days Performed
Mon, Wed
Turnaround Time
6 - 10 days
Methodology
| Name | Description |
|---|---|
| Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS) |
Reference Range
| Alpha Galactosidase, Leukocytes | |||||
|---|---|---|---|---|---|
| Sex | Age From | Age To | Type | Range | Range Unit |
| Years | 99 Years | Normal | >= 10.32 | nmol/hr/mg protein |
Special Info
For optimal isolation of leukocytes, it is recommended that the specimen arrive refrigerated at the performing laboratory within 96 hours of collection to be stabilized. Specimens received after 96 hours could have falsely normal results. Do not collect the day before a major holiday. Specimen should be collected and packaged as close to shipping time as possible. Grossly hemolyzed specimens will be rejected.
Clinical Info
Useful for diagnosing Fabry disease in male patients. Verifying abnormal serum alpha-galactosidase results in male patients with a clinical presentation suggestive of Fabry disease. Results from this assay do not reflect carrier status because of individual variation of alpha-galactosidase enzyme levels. Individuals with pseudodeficiency allelic variants can show reduced alpha-galactosidase A enzyme activity with this assay. Carrier detection using enzyme levels is unreliable in females, and mutation analysis using molecular methods is recommended. Values below the reference range are consistent with a diagnosis Fabry Disease. When abnormal results are detected, a detailed interpretation is given