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).
Special Instructions
- Informed Consent for Genetic Testing
- Biochemical Genetics Patient Information
- Blood Spot Collection Card-Spanish Instructions
- Blood Spot Collection Card-Chinese Instructions
- Informed Consent for Genetic Testing (Spanish)
- Lysosomal Storage Disorders Diagnostic Algorithm, Part 1
- Blood Spot Collection Instructions
Method Name
Fluorometric Enzyme Assay
Reporting Name
Iduronate-2-sulfatase, BSSpecimen Type
Whole bloodNecessary Information
Provide a reason for referral with each specimen.
Specimen Required
Supplies: Card-Blood Spot Collection (Filter Paper) (T493)
Container/Tube:
Preferred: Blood spot collection card
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:
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
Blood spot: 1
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) and Time(s) Performed
Varies
Performing Laboratory

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.NY State Approved
YesForms
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
See Lysosomal Storage Disorders Diagnostic Algorithm, Part 1 in Special Instructions.