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
|Self (patient) Price||$499.00|
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.
Saville et al. Genetics in Medicine 2019; 21(3):753-757.
Herbst et al. International Journal of Neonatal Screening 2020; 6(3):69.
Alpha-L-iduronidase activity is below the normal reference range.
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).
Dried blood spot card
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.