Mucopolysaccharidosis I (MPS I) Hurler Syndrome (a-iduronidase) Collect before noon Monday-Friday - LG6813


Sunquest Code:LSMISC  
Epic Code:LAB4909Epic Name:Send Outs Misc Test
Synonyms:Alpha-iduronidase
Methodology:4-methylumbelliferyl substrate
Turnaround Time:Specimens are collected before noon and sent to the reference laboratory Mon-Fri; 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:Collect before noon Mon-Fri ONLY.

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.

If collecting both plasma and leukocytes, 5-10 mL in Green Sodium is sufficient volme for both tests.

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:Do not process.  Store at room temperature.
Shipping Instructions:Ship overnight at room temperature.  If sending on Friday, also check "Saturday Delivery" on airbill.
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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