Molecular Pathology and Genomic Approaches in Disease Diagnosis

This chapter provides a comprehensive review of how next-generation sequencing, whole-genome and exome analysis, and molecular profiling technologies have revolutionized diagnostic pathology. It critically examines the transition from morphology-based to molecularly integrated disease classification, with a focus on clinically validated genomic biomarkers across oncological and non-neoplastic conditions. Special attention is given to the challenges of variant interpretation, standardization of molecular testing pipelines, and the evolving regulatory framework governing genomic diagnostics in clinical laboratories.