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Test ID I2SW Iduronate-2-Sulfatase, Whole Blood

Useful For

Diagnosis of mucopolysaccharidosis II (MPS II, Hunter syndrome) in whole blood specimens

 

This test is not useful for determining carrier status for MPS II.

Genetics Test Information

This test provides diagnostic testing for individuals with positive newborn screen results or clinical signs and symptoms suspicious for mucopolysaccharidosis type II (MPS II, Hunter syndrome).

Method Name

Fluorometric Enzyme Assay

Reporting Name

Iduronate-2-sulfatase, B

Specimen Type

Whole blood


Necessary Information


Provide a reason for referral with each specimen.



Specimen Required


Collection Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Yellow top (ACD)

Specimen Volume: 2 mL


Specimen Minimum Volume

0.5 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole blood Ambient (preferred) 7 days
  Refrigerated  7 days

Reference Values

≥1.5 nmol/hour/mL

Day(s) and Time(s) Performed

Varies

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82657

LOINC Code Information

Test ID Test Order Name Order LOINC Value
I2SW Iduronate-2-sulfatase, B 79462-8

 

Result ID Test Result Name Result LOINC Value
61902 Iduronate-2-sulfatase, B 79462-8
35211 Reviewed By 18771-6
35212 Interpretation (I2SW) 59462-2

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

Testing Algorithm

The following algorithms are available in Special Instructions:

-Lysosomal Storage Disorders Diagnostic Algorithm, Part 1

-Lysosomal Storage Disorders Diagnostic Algorithm, Part 2

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 in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Biochemical Genetics Patient Information (T602) in Special Instructions.

3. If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.

NY State Approved

Yes