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HelpTest Code LAB2772 Alpha Fucosidase
Clinical System Name
Alpha Fucosidase
Synonyms
Fucosidosis
A Fuco
Sample Requirements
Specimen: Whole Blood
Container(s): Yellow/ACD A or B, Dark Green/Sodium Heparin Tube
Preferred Vol:10.0 mL
Minimum Vol: 6.0 mL
Note: Also acceptable: cultured cells from skin fibroblasts (2 confluent T-25 flasks)
Do NOT use gel separator tubes.
Processing Instructions
Reject due to:
Spin: N
Aliquot:N
Temp:RT
Storage location: Biochemical Genetics Box- RT
Processing on weekends: Contact Chem West (x72565) on dayshift. If Chemistry team is unavailable, sample should be stored in RT Biochemical Genetics box.
Off-site collection: Do not spin! Keep at room temperature. Transport Mon-Thurs at room temperature via overnight shipping.
Stability
| Specimen Type | Temperature | Time |
|---|---|---|
| Whole blood | Room temp |
≤24 hr |
| Whole blood | Refrigerated | < 24 hr |
Samples received > 24 hr after blood collection will still be processsed and test performed if possible.
Availability
| STAT | Performed | TAT |
|---|---|---|
| N | Weekly | 7-10 days |
Performing Laboratory
Seattle Children's Laboratory
Department
Department: Biochemical Genetics
Phone Number: 206-987-2216
CPT Codes
82657
Methodology
Method: 4 MU Fluorometric Assay
Analytical Volume:
Limitations:
Reference Range
| Specimen Type | Normal Range |
|
WBC |
66-130 nmol/hr/mg protein |
Description
Fluorometric enzyme test for alpha-fucosidase
Clinical Utility
This test is used to diagnose fucosidosis, which can present with progressive intellectual disability, neurologic deterioration, hepatosplenomegaly, and abnormalities in urine oligosaccharides. This test is not appropriate for determining carrier status or for prenatal diagnosis.
Requisition
Biochemical Genetics Requisition
On the requisition include clinical information needed for appropriate interpretation. (Age, gender, drug therapy and family history)