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Test Code 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.

Reporting Name

Alpha-L-Iduronidase, Leukocytes

Specimen Type

Whole Blood ACD

Specimen Minimum Volume

2 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole Blood ACD Refrigerated (preferred) 6 days
  Ambient  6 days

Reject Due To

Gross hemolysis Reject

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 days

Specimen Retention Time

WBC homogenate: 1 month

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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