Alpha-L-Iduronidase Enzyme Analysis
| Test Code | B0013 |
|---|---|
| Test Summary |
This test detects alpha-L-iduronidase 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 | Yes |
**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.
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Test Description
This test detects alpha-L-iduronidase enzyme activity that has been associated with mucopolysaccharidosis type I.
Indications for Testing
This test may be appropriate for individuals with a clinical suspicion of mucopolysaccharidosis type I and/or individuals with a family history of mucopolysaccharidosis type I.
Condition Description
Mucopolysaccharidosis type I is a disease associated with the accumulation of complex carbohydrates in various tissues caused by a lysosomal storage disorder. The disease is separated into severe and attenuated forms. The severe form has an age of onset in infancy and the attenuated form has an age of onset in childhood. Both forms show symptoms of a large head, hydrocephalus, distinctive facial features, hepatosplenomegaly, an enlarged tongue, umbilical and inguinal hernias, clouded corneas, hearing loss, weakness in the hands and fingers, and spinal stenosis. The severe form of the disease can also include symptoms of developmental regression, intellectual decline, rapid disease progression, and a life expectancy of late childhood. The attenuated form of the disease can include symptoms of intellectual disability and typically live into adulthood. The incidence of mucopolysaccharidosis type I 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. |