Development, Validation, and Application of the Paya Hamsan Technologies Underivatized Newborn Screening Assay (PHUNSA) for Inborn Metabolic Disorders in Dried Blood Spot Samples from Iranian Infants.

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.