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Mucopolysaccharidosis type I (MPS I) marker

Omics test Model
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.

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Test Code: GED1D
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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
Test Details Page
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.

  • NBS: Please contact Revvity Omics to request the StepOne® kit.
  • Gene Sequencing: Please contact Revvity Omics to request the DBS collection kit.
  • For pre-punched DBS: The required minimum is 6 punches
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.
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