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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

Method Name

Fluorometric Enzyme Assay

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

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

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.

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.