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Iduronate 2-Sulfatase Enzyme Analysis
Iduronate 2-Sulfatase Enzyme Analysis
Iduronate 2-Sulfatase Enzyme Analysis
This test detects iduronate 2-sulfatase activity.
| Test Code | B0014 |
|---|---|
| Test Summary |
This test detects iduronate 2-sulfatase activity. |
| Turn Around Time | 3 days |
| Acceptable Sample Types | Dried Blood Spots , Whole Blood (EDTA) |
| Acceptable Billing Types | Institutional Billing , Self (patient) Payment |
| NY Approved | No |
| Self (patient) Price | $108.90 |
|---|---|
| Institutional Price | $108.90 |
**The CPT codes listed are in accordance with Current Procedural Terminology, a publication of the American Medical Association, and are provided for informational purposes only. CPT coding is the sole responsibility of the billing party.
This testing service has not been cleared or approved by the U.S. Food and Drug Administration. Testing services may not be licensed in accordance with the laws in all countries. The availability of specific test offerings is dependent upon laboratory location.
Test information
Test description
This test detects iduronate 2-sulfatase enzyme activity that has been associated with mucopolysaccharidosis type II.
Indications for testing
This test may be appropriate for individuals with a clinical suspicion of mucopolysaccharidosis type II and/or individuals with a family history of mucopolysaccharidosis type II.
Condition description
Mucopolysaccharidosis type II is a disease associated with the accumulation of complex carbohydrates in various tissues caused by a lysosomal storage disorder. The disease mainly affects males with age of onset occurring between 2 to 4 years of age. Symptoms usually include full lips, rounded cheeks, a broad nose, enlarged tongue, deep and hoarse voice, sleep apnea, a large head, hydrocephalus, hepatosplenomegaly, umbilical and inguinal hernias, thick skin, skin growths, hearing loss, light sensitivity, reduced vision, weakness in the hands and fingers, spinal stenosis, heart valve abnormalities, short stature, delayed growth, contractures, and thickening of the long bones. More severe forms of the disease can also include symptoms of developmental regression, intellectual decline, rapid disease progression, and a life expectancy of 10-20 years of age. Milder forms of the disease typically do not have affected intelligence but do have a shortened life expectancy in adulthood. The incidence of mucopolysaccharidosis type II is estimated to be ~ 1 in 100,000
Test methods and limitations
Tandem mass spectrometry analysis can be coupled with liquid chromatography, a technique referred to as LC-MS/MS. In this methodology, chromatography is used to separate analytes of interest prior to measurement by the mass spectrometer. This separation reduces interference from matrix components and can also allow for the measurement of analytes that have the same mass (isobaric species), thereby improving analytical specificity compared to MS/MS.
Detailed sample requirements
Dried Blood Spots
| Collection Container(s) |
Dried blood spot card |
|---|---|
| Collection |
Follow kit instructions. Briefly, allow blood to saturate the card until indicated areas are filled and blood has soaked through the card. Air dry the card at ambient temperature for at least 3 hours.
|
| Sample Condition |
Follow the instructions provided with the collection set. Store the dried blood at ambient temperature for up to two days. If the specimen cannot be sent as soon as it is dry, the filter paper should be placed in a sealable plastic bag and stored in a refrigerator (≤ 8°C) or preferably in a freezer. |
| Shipping |
Follow kit instructions. Double bag and ship overnight at ambient temperature. |
Whole Blood (EDTA)
| Collection Container(s) |
EDTA (purple top) |
|---|---|
| Collection |
Infants (< 2-years): 2 to 3 mL; Children (>2-years): 3 to 5 mL; Older children and adults: Minimum 5mL. The blood tube should be inverted several times immediately after blood collection to prevent coagulation. |
| Sample Condition |
Store at ambient temperature. Do not refrigerate or freeze. |
| Shipping |
Ship overnight at ambient temperature ensuring receipt within 5-days of collection. |
| SPECIAL SAMPLE INSTRUCTIONS |
Clotted or hemolyzed samples are not accepted. |
Resources
How To Order
Choose Your Test
Select the correct test for your patient, and download and fill out the Clinical Genomics test requisition form.
Collect Sample
Obtain a sample for testing from the patient using one of the provided Revvity Omics test packs.
Send Samples
Send samples and all required forms back to Revvity for processing using pre-paid shipping label.
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