Test ID IDUAW Alpha-L-Iduronidase, Leukocytes
Ordering Guidance
This test is preferred for diagnostic testing. For carrier detection, order MPS1Z / Hurler Syndrome, Full Gene Analysis, Varies.
Shipping Instructions
For optimal isolation of leukocytes, it is recommended the specimen arrive refrigerated within 6 days of collection to be stabilized. Collect specimen Monday through Thursday only and not the day before a holiday. Specimen should be collected and packaged as close to shipping time as possible.
Specimen Required
Container/Tube:
Preferred: Yellow top (ACD solution B)
Acceptable: Yellow top (ACD solution A) or lavender top (EDTA)
Specimen Volume: 6 mL
Collection Instructions: Send whole blood specimen in original tube. Do not aliquot.
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Biochemical Genetics Patient Information (T602)
3. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.
Useful For
Diagnosis of mucopolysaccharidosis I, Hurler, Scheie, and Hurler-Scheie syndromes in leukocytes
This test is not useful for determining carrier status.
Genetics Test Information
This test provides diagnostic testing for patients with clinical signs and symptoms suspicious for mucopolysaccharidosis type I (MPS I).
Enzyme testing is included in the diagnostic workup for infants following a positive newborn screen result for MPS I.
Testing Algorithm
Additional information is available:
Special Instructions
Method Name
Flow Injection Analysis-Tandem Mass Spectrometry
Reporting Name
Alpha-L-Iduronidase, LeukocytesSpecimen Type
Whole Blood ACDSpecimen Minimum Volume
2 mL
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Whole Blood ACD | Refrigerated (preferred) | 6 days | |
Ambient | 6 days |
Reference Values
≥2.06 nmol/hour/mg protein
An interpretive report will be provided.
Day(s) Performed
Preanalytical processing: Monday through Saturday.
Testing performed: Monday, Wednesday
Report Available
3 to 7 daysPerforming Laboratory
Mayo Clinic Laboratories in RochesterTest Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
82657
LOINC Code Information
Test ID | Test Order Name | Order LOINC Value |
---|---|---|
IDUAW | Alpha-L-Iduronidase, Leukocytes | 24057-2 |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
606276 | Alpha-L-Iduronidase, Leukocytes | 24057-2 |
606277 | Interpretation | 59462-2 |
606278 | Reviewed By | 18771-6 |