Alpha-Fucosidase, Leukocytes
Use
This test is useful for the detection of fucosidosis, an autosomal recessive lysosomal storage disorder. Fucosidosis is caused by reduced or absent alpha-L-fucosidase enzyme activity, leading to the accumulation of fucose-containing complex molecules in cells. Determining enzymatic activity is part of the diagnostic procedure for individuals clinically suspected of oligosaccharidosis or with a positive screening suggestive of fucosidosis.
Special Instructions
For optimal isolation of leukocytes, it is recommended the specimen arrive refrigerate within 6 days of collection to be stabilized. Collect specimen only Monday through Thursday and not the day before a holiday. Specimen should be collected and packaged as close to shipping time as possible.
Limitations
The test is not useful for establishing carrier status for fucosidosis. No significant cautionary statements are provided, but improper specimen collection and handling, inappropriate test selection, and interfering substances may cause diagnostic confusion.
New York Approved
Methodology
Other (Fluorometric)
Biomarkers
LOINC Codes
- 24047-3
- 24047-3
- 59462-2
- 18771-6
Result Turnaround Time
8 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
6 mL
Minimum Volume
5 mL
Container
Yellow top (ACD solution B preferred, ACD solution A acceptable)
Collection Instructions
Send specimen in original tube. Do not aliquot.
Storage Instructions
Refrigerated preferred, stable for 6 days. Ambient also acceptable for 6 days.
Causes for Rejection
Gross hemolysis
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 6 days |
| Refrigerated | 6 days |