Hurler Mucopolysaccharidosis I alpha-Iduronidase Enzyme, Plasma and Leukocytes Collect before noon Monday-Friday - LG6813


Sunquest Code:AIDUR  
Epic Code:LAB8228Epic 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.
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-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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