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Test Code I2SBS Iduronate-2-Sulfatase, Blood Spot

Useful For

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

Reporting Name

Iduronate-2-sulfatase, BS

Specimen Type

Whole blood

Specimen Required

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

Container/Tube:

Preferred: Blood spot collection card (T493)

Acceptable: 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 >1 year of age is fingerstick.

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

Specimen Minimum Volume

1 blood spot

Specimen Stability Information

Specimen Type Temperature Time
Whole blood Ambient (preferred) 90 days
  Frozen  90 days
  Refrigerated  90 days

Reference Values

≥1.5 nmol/h/mL

Day(s) and Time(s) Performed

Set up Wednesday; report Friday morning

Performing Laboratory

Mayo Medical Laboratories in Rochester

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.

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 No LOINC Needed
35210 Interpretation (I2SBS) 59462-2

Method Name

Fluorometric Enzyme Assay

Forms

1. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.

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

Necessary Information

Provide a reason for referral with each specimen.