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Test ID I2SBS Iduronate-2-Sulfatase, Blood Spot

Useful For

Diagnosis of mucopolysaccharidosis II (MPS II, Hunter syndrome) using dried blood spot 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, BS

Specimen Type

Whole blood


Necessary Information


Provide a reason for testing with each specimen.

Specimen Required


Supplies: Card-Blood Spot Collection (Filter Paper) (T493)

Container/Tube:

Preferred: Blood spot collection card

Acceptable: PerkinElmer 226 (formerly Ahlstrom 226) filter paper, Munktell TFN, and Whatman Protein Saver 903 paper

Specimen Volume: 2 Blood spots

Collection Instructions:

1. An alternative blood collection option for a patient older than 1 year of age is fingerstick. See Dried Blood Spot Collection Tutorial for how to collect blood spots via fingerstick: https://vimeo.com/508490782 .

2. Let blood dry on the filter paper at ambient temperature in a horizontal position for 3 hours.

3. Do not expose specimen to heat or direct sunlight.

4. Do not stack wet specimens.

5. Keep specimen dry.

Additional Information:

1. For collection instructions, see Blood Spot Collection Instructions in Special Instructions.

2. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777) in Special Instructions.

3. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800) in Special Instructions.


Specimen Minimum Volume

1 Blood spot

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole blood Ambient (preferred) 90 days FILTER PAPER
  Frozen  90 days FILTER PAPER
  Refrigerated  90 days FILTER PAPER

Reference Values

≥1.5 nmol/hour/mL

Day(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
I2SBS Iduronate-2-sulfatase, BS 79462-8

 

Result ID Test Result Name Result LOINC Value
61901 Iduronate-2-sulfatase, BS 79462-8
35209 Reviewed By 18771-6
35210 Interpretation (I2SBS) 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.

Report Available

8 to 15 days

NY State Approved

Yes

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.

Testing Algorithm

The following algorithms are available in Special Instructions:

-Lysosomal Storage Disorders Diagnostic Algorithm, Part 1

-Lysosomal Storage Disorders Diagnostic Algorithm, Part 2