Hurler Mucopolysaccharidosis I alpha-Iduronidase Enzyme, Plasma and Leukocytes Collect before noon Monday-Friday - LG6813
| Sunquest Code: | AIDUR | ||
| Epic Code: | LAB8228 | Epic Name: | MPS I a-lduronidase Hurler MPS I alpha-Iduronidase Enzyme |
| Synonyms: | Alpha-iduronidase | ||
| Methodology: | 4-methylumbelliferyl substrate | ||
| Turnaround Time: | Specimens are collected before noon and sent to the reference laboratory Mon-Thur; results are reported within 14 days. Do not collect the day before a holiday. | ||
| Special Instructions: | Send sample in a STAT bag to East Bank Core Lab/Sendouts:
Time Sensitive Handling Required: Specimen must be at the East Bank Sendouts lab no later than 1600. Order On-Time Delivery courier to deliver directly to East Bank Sendouts lab. Call Sendouts at 612-273-3711 to notify. CSC and West Only: Send in red STAT bag by HealthEx courier. Call Sendouts at 612-273-3711 to notify. |
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| Associated Links: | |||
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-Thur ONLY.
Plasma - 5-10 mL Sodium heparin (green top) tube, Leukocytes - 5-10 mL whole 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 volume 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 whole blood and filter paper at room temperature. Store plasma frozen. |
| Shipping Instructions: | Ship whole blood overnight at room temperature. Ship plasma frozen. |
| Stability: | 24 hours at room temperature; 6 months frozen. |
| 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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