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Test Code BG101
Test Summary

This assay detects Mucopolysaccharidosis I (MPS I) biomarker.
Turn-Around-Time (TAT)* 7  days
Acceptable Sample Types
Dried Blood Spots
Acceptable Billing Types
Self (patient) Payment
Institutional Billing
Self (patient) Price $499.00
Institutional Price $499.00
*TAT starts after the sample and all required sample information is received at PerkinElmer Genomics.

Test Description

This is a semi-quantitative assay that can detect the accumulation of a glycosaminoglycan fragment that is specific to Mucopolysaccharidosis I (MPS I). Dr. Maria Fuller identified this biomarker.

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

Detailed Sample Requirements

Dried Blood Spots
Collection Container(s):

Dried blood spot card

Collection:

Follow kit instructions. Briefly, allow blood to saturate card until indicated areas are filled and blood has soaked through card. Air dry card at ambient temperature for at least 3 hours.

  • NBS: Please contact PKIG to request the StepOne® kit.
  • Gene Sequencing: Please contact PKIG to request the DBS collection kit.
  • For pre-punched DBS: The required minimum 6 punches with 3.2 mm or 4 punches 4.75 mm.
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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