Diagnostic Accuracy in Molecular Laboratories

Chiamaka Francisca Igweonu

Abstract: Molecular diagnostics have transformed laboratory medicine by offering enhanced sensitivity, specificity, and faster turnaround times compared to traditional techniques. This review explores the accuracy of molecular tests across diverse clinical applications. Diagnostic accuracy is central to ensuring reliable results in molecular laboratories, influencing patient outcomes, treatment planning, and public health responses. Techniques such as PCR, NGS, and microarray assays are pivotal in modern diagnostics but also introduce challenges related to reproducibility and precision. The review defines key parameters including sensitivity, specificity, PPV, and NPV, and evaluates methodological advances, common errors, and quality assurance mechanisms. Real-world case studies such as SARS-CoV-2 and HPV testing highlight the practical implications of diagnostic variability. Emphasis is placed on regulatory frameworks, proficiency testing, and emerging tools such as AI and digital integration. A systems-level approach is advocated to strengthen diagnostic reliability, especially in high-volume and resource-limited settings.

Keywords: Diagnostic accuracy, Molecular diagnostics, PCR, Quality assurance, Laboratory errors, Bioinformatics