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Test Code A Idur Hu Alpha Iduronidase

Clinical System Name

Alpha Iduronidase

Synonyms

Hurler's

MPS I

 

Description

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

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 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

 

 

Reference Range

 

Specimen Type Normal Range (nmol/hr/mg protein)

WBC

20-80
FB (fibroblast) 21-145

 

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 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.