Test Code FUCW Alpha-Fucosidase, Leukocytes
Performing Laboratory
Mayo Clinic Laboratories in RochesterReporting Name
Alpha-Fucosidase, LeukocytesSpecimen Type
Whole Blood ACDOrdering Guidance
If clinically suspicious of an oligosaccharidosis, a screening test is available. Order OLIGU / Oligosaccharide Screen, Random, Urine.
Shipping Instructions
For optimal isolation of leukocytes, it is recommended the specimen arrive refrigerate within 6 days of collection to be stabilized. 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.
Specimen Required
Container/Tube:
Preferred: Yellow top (ACD solution B)
Acceptable: Yellow top (ACD solution A)
Specimen Volume: 6 mL
Collection Instructions: Send specimen in original tube. Do not aliquot.
Reject Due To
Gross hemolysis | Reject |
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Whole Blood ACD | Refrigerated (preferred) | 6 days | YELLOW TOP/ACD |
Ambient | 6 days | YELLOW TOP/ACD |
Specimen Minimum Volume
5 mL
Special Instructions
Day(s) Performed
Preanalytical processing: Monday through Saturday
Assay performed: Once per month
Specimen Retention Time
WBC homogenate: 1 monthReport Available
30 to 45 daysReference Values
≥0.32 nmol/min/mg protein
Useful For
Detection of fucosidosis
This test is not useful for establishing carrier status for fucosidosis.
Testing Algorithm
See Lysosomal Storage Disorders Diagnostic Algorithm, Part 1
CPT Code Information
82657
LOINC Code Information
Test ID | Test Order Name | Order LOINC Value |
---|---|---|
FUCW | Alpha-Fucosidase, Leukocytes | 24047-3 |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
8814 | Alpha-Fucosidase, Leukocytes | 24047-3 |
35635 | Interpretation (FUCW) | 59462-2 |
35634 | Reviewed By | 18771-6 |
Disease States
- Fucosidosis
Genetics Test Information
Fucosidosis is an autosomal recessive lysosomal storage disorder caused by reduced or absent alpha-L-fucosidase enzyme activity.
Determining enzymatic activity is the next step of the diagnostic workup for an individual clinically suspicious for an oligosaccharidosis and with a positive screening result suggestive of fucosidosis.
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Biochemical Genetics Patient Information (T602)
3. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.