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Order 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.

Method Name

Flow Injection Analysis-Tandem Mass Spectrometry

Reporting Name

Alpha-L-Iduronidase, Leukocytes

Specimen Type

Whole Blood ACD

Specimen Minimum Volume

2 mL

Specimen Stability Information

Specimen Type Temperature Time
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.

Method Description

The specimens are incubated with a mix of substrate and internal standard for acid sphingomyelinase, beta-glucocerebrosidase, acid alpha-glucosidase, alpha-galactosidase, galactocerebrosidase, and alpha-L-iduronidase. The sample is then purified by liquid-liquid extraction. The extract is evaporated and reconstituted before analysis by tandem mass spectrometry.(Unpublished Mayo method)

Day(s) Performed

Preanalytical processing: Monday through Saturday.

Testing performed: Monday, Wednesday

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82657