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Development, Validation, and Application of the Paya Hamsan Technologies Underivatized Newborn Screening Assay
Azam Khodadadi1, Saber Nanbedeh1, Mahsa Joodaki1
1Molecular Engineering & Sciences Institute, Arak University, Arak 3848177584, Iran.
Insights
Newborn screening for inborn metabolic disorders (IMDs) is crucial. The PHUNSA kit offers an efficient, underivatized MS/MS method for early detection, improving newborn screening (NBS) outcomes.
Area of Science:
- Biochemistry
- Clinical Diagnostics
- Mass Spectrometry
Background:
- Newborn screening (NBS) for inborn metabolic disorders (IMDs) is vital for preventing severe developmental issues and mortality.
- Electrospray ionization tandem mass spectrometry (MS/MS) is a key technology for analyzing biochemical markers in dried blood spots (DBSs).
- Simplifying specimen preparation by eliminating derivatization can enhance the efficiency of NBS analysis.
Purpose of the Study:
- To evaluate the performance of the Paya Hamsan Technologies Underivatized Newborn Screening Assay (PHUNSA) kit for IMD NBS.
- To assess the accuracy, precision, linearity, and stability of the PHUNSA kit according to international standards.
- To determine if the PHUNSA kit offers a streamlined and reliable alternative for IMD detection.
Main Methods:
- Validation of the PHUNSA kit using ISO 15189 standards and CLSI NBS04 guidelines.
- Analysis of dried blood spot specimens (DBSs) using underivatized electrospray ionization tandem mass spectrometry (MS/MS).
- Assessment of assay sensitivity, including limits of detection (LOD) and lower limits of quantification (LLOQ).
Main Results:
- The PHUNSA kit demonstrated suitable performance with acceptable recovery rates and minimal bias for numerous IMD analytes.
- Assay sensitivity was confirmed through acceptable LOD and LLOQ.
- Reduced specimen preparation times, coefficients of variation consistently below 10%, and proven accuracy and stability under various conditions were observed.
Conclusions:
- The PHUNSA kit provides a simplified, efficient, and reliable method for inborn metabolic disorder newborn screening.
- The kit has the potential to enhance NBS programs by offering a scalable, cost-effective, and streamlined option.
- Early detection and management of IMDs can be improved through the adoption of this underivatized MS/MS assay.
Abstract:
Screening for inborn metabolic disorders (IMDs) in newborns is an important way to prevent serious metabolic and developmental difficulties that can result in lasting disabilities or even death. Electrospray ionization tandem mass spectrometry (MS/MS) provides an efficacious newborn blood spot screening (NBS) mechanism for analyzing dried blood spot specimens (DBSs) for biochemical markers for these conditions. Where possible, the elimination of derivatization in specimen preparation can simplify and streamline analysis. The Paya Hamsan Technologies Underivatized Newborn Screening Assay (PHUNSA) is an underivatized MS/MS test kit for IMD NBS. Validation of the accuracy, precision, linearity, and stability was based on the ISO 15189 standard and the CLSI NBS04 guideline. The PHUNSA kit demonstrated suitable performance along with acceptable recovery rates and negligible bias for many IMD analytes. Assay sensitivity was demonstrated through acceptable limits of detection (LOD) and lower limits of quantification (LLOQ). Specimen preparation times were decreased, the coefficients of variation were consistently below 10%, and accuracy and stability were demonstrated under various testing conditions, including prolonged storage and transportation. The PHUNSA kit provides a simplified, efficient, and reliable approach to IMD NBS with the potential to enhance NBS in Iran and other locations by providing a scalable, cost-effective, and streamlined option for early IMD detection and management.
