Mucopolysaccharidosis II (MPS II) Hunter Syndrome: Iduronate-2-sulfatase Enzyme Analysis - LG6812


Sunquest Code:LSMISC  
Epic Code:LAB4909Epic Name:Send Outs Misc Test
Methodology:4-methylumbelliferyl substrate
Turnaround Time:Specimens are sent to the reference laboratory Mon-Thur; results are reported within 14 days.
Special Instructions:A completed requisition must accompany each specimen. See Associated Links.
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)
Causes for Rejection:Whole blood samples not received at testing laboratory within 24 hours of collection.


Processing and Shipping

Specimen Processing:Centrifuge and aliquot 5 mL; 2.4 mL minimum. Store frozen.
Shipping Instructions:Ship overnight at frozen 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 iduronate-2-sulfatase enzyme activity and can be used as a 1st tier test for patients with a clinical suspicion of Mucopolysaccharidosis II (MPS II) Hunter Syndrome.
Demonstration of deficient iduronate-2-sulfatase enzyme activity is considered the gold standard to confirm a diagnosis of Mucopolysaccharidosis II (MPS II) Hunter Syndrome.


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