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Test Code A Fuco Alpha Fucosidase

Clinical System Name

Alpha Fucosidase

Synonyms

Fucosidosis

Description

Fluorometric enzyme test for alpha-fucosidase

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

 

 

Reference Range

 

Specimen Type Normal Range

WBC

66-130 nmol/hr/mg protein

 

Methodology

Method: 4 MU Fluorometric Assay

Analytical Volume:

Limitations:

CPT Codes

82657

Requisition

Biochemical Genetics Requisition

 

On the requisition include clinical information needed for appropriate interpretation. (Age, gender, drug therapy and family history)

Clinical Utility

This test is used to diagnose fucosidosis, which can present with progressive mental retardation, neurologic deterioration, hepatosplenomegaly, and abnormalities in urine oligosaccharides. This test is not appropriate for determining carrier status or for prenatal diagnosis.