Mucopolysaccharidosis I (MPS I) Hurler Syndrome (a-iduronidase) - LG6813


Sunquest Code:LSMISC  
Epic Code:LAB4909Epic Name:Send Outs Misc Test
Synonyms:Alpha-iduronidase
Methodology:4-methylumbelliferyl substrate
Turnaround Time:Specimens are sent to the reference laboratory Mon-Thur; results are reported within 14 days.
Associated Links:

Greenwood Genetic Center Request Form



Collection Instructions

Specimen:Blood
Optimal Volume:10 mL
Minimum\Peds Volume:5 mL
Container:Green (sodium heparin, no gel) (Filter paper)
Collection Instructions:Dried blood spot: - Fill at least 3 circles completely with a single layer of blood for each circle.  Dry spots 3-4 hours prior to sending.

Plasma - 5-10 mL Sodium heparin (green top) tube,

Leukoytes - 5-10 mL blood in sodium heparin (green top) tube.  Must arrive within 24 hours of draw.

Fibroblasts/Tissue - Fresh tissue should be placed in transport media (preferred) or sterile saline and shipped overnight.  For cultured tissue, please send two T25 flasks overnight.  If cultured tissue is being sent, a control flask is requested in addition to the patient sample.

See associated link for additional information.
Causes for Rejection:Whole blood samples not received at testing laboratory within 24 hours of collection.


Processing and Shipping

Specimen Processing:For plasma samples centrifuge and aliquot 5 mL; 2.4 mL minimum. Store frozen.  All other samples store at room temperature.
Shipping Instructions:Ship plasma overnight at frozen temperature.  All other samples ship overnight at room temperature.
Test Performed at or Referral Lab Lab Sendouts  (Greenwood Genetic Center)


Interpretive

Reference Range:By report.
Use:This biochemical test is a quantitative measurement of alpha-iduronidase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Mucopolysaccharidosis I (MPS I) Hurler syndrome.
Demonstration of deficient alpha-iduronidase enzyme activity is considered the gold standard to confirm a diagnosis of Mucopolysaccharidosis I (MPSI) Hurler Syndrome.


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