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Mucopolysaccharidosis type I (MPS I) marker
Mucopolysaccharidosis type I (MPS I) marker
Mucopolysaccharidosis type I (MPS I) marker
This assay detects Mucopolysaccharidosis I (MPS I) biomarker.
| Test Code | GED1D |
|---|---|
| Test Summary |
This assay detects Mucopolysaccharidosis I (MPS I) biomarker. |
| Turn Around Time | 7 days |
| Acceptable Sample Types | Dried Blood Spots |
| Acceptable Billing Types | Institutional Billing |
| NY Approved | No |
| Institutional Price | $499.00 |
|---|
*TAT starts after the sample and all required sample information is received at the processing laboratory.
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 assay provides a semi-quantitative measurement of a glycosaminoglycan fragment that is specific to Mucopolysaccharidosis I (MPS I).
References:
Saville et al. Genetics in Medicine 2019; 21(3):753-757.
Herbst et al. International Journal of Neonatal Screening 2020; 6(3):69.
Indications for testing
Alpha-L-iduronidase activity is below the normal reference range.
Condition description
Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive genetic disorder, caused by deficiency of the enzyme alpha-L-iduronidase, resulting in the accumulation of the glycosaminoglycans (GAGs) in organs and tissues (PMID: 32764324).
Test methods and limitations
LC-MS/MS
Limitations:
The effect of anticoagulants on this assay has not been determined, therefore dried blood spots prepared from venous drawn whole blood tubes cannot be accepted.
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. |
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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