Related Experiment Video
Updated: May 26, 2026
08:44
Dried Blood and Serum Spots As A Useful Tool for Sample Storage to Evaluate Cancer Biomarkers
Published on: June 11, 2018
A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots
Adviye A Tolun1, Carrie Graham, Qun Shi
1Division of Medical Genetics, Department of Pediatrics, Duke Medicine, Durham, NC 27713, USA.
Molecular Genetics and Metabolism
|January 10, 2012
Summary
A new enzyme assay for Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, has been developed using dried blood spots. This robust and reproducible assay aids in the clinical diagnosis of MPS II.
Area of Science:
- Biochemistry
- Genetics
- Medical Diagnostics
Background:
- Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is a rare genetic disorder.
- It results from a deficiency in the enzyme iduronate-2-sulfatase (IDS).
- Accurate and accessible diagnostic methods are crucial for early intervention.
Purpose of the Study:
- To develop and validate a convenient single-step fluorometric microplate enzyme assay for MPS II diagnosis.
- To assess the assay's performance using dried blood spots (DBS).
- To compare the DBS assay with existing diagnostic technologies.
Main Methods:
- Development of a single-step fluorometric microplate enzyme assay.
- Validation of the assay using dried blood spots (DBS).
- Comparison with a digital microfluidic method for IDS enzyme activity measurement.
Main Results:
- The developed DBS assay is convenient and suitable for clinical diagnosis of MPS II.
- The assay demonstrated robustness and reproducibility.
- Performance was comparable to a digital microfluidic method.
Conclusions:
- A validated, robust, and reproducible DBS enzyme assay facilitates MPS II diagnosis.
- This method offers a practical approach for clinical settings.
- The assay provides a reliable tool for identifying Hunter syndrome.
