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Test Code LAB2777 Alpha Iduronidase

Clinical System Name

Alpha Iduronidase

Synonyms

Hurler's

MPS I

A Idur Hu

 

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.

 

Seattle Children's Regional Sites: Do not spin!  Keep at room temperature and send to main campus any day of the week.

 

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 hrs
Whole Blood Refrigerated <24 hrs

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 (nmol/hr/mg protein)

WBC

 20-80
FB (fibroblast) 21-145

 

Description

Fluorometric enzyme test for alpha-iduronidase for diagnosis of MPS I (Hurler, Hurler/Scheie, Scheie).

Clinical Utility

This test is used for work up of patients with a suspected mucopolysaccharide disorder, and elevated excretion of glycosaminoglycans (heparan and dermatan sulfates). A deficiency of alpha-iduronidase supports a diagnosis of MPS type I (Hurler, Hurler/Scheie, or Scheie disease). 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)