Mucopolysaccharidosis II (MPS II) Hunter Syndrome: Iduronate-2-sulfatase Enzyme Analysis
Abbrev Code: | XMISC | ||
Order Code: | LAB4909 | Order Name: | Send Outs Misc Test |
Methodology: | 4-methylumbelliferyl substrate | ||
CPT Codes: | 82657 x1 | ||
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: |
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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