Abstract
Next-generation sequencing has fundamentally transformed modern hematology by enabling comprehensive genomic profiling of hematologic diseases with unprecedented sensitivity and specificity. Unlike conventional molecular techniques, NGS simultaneously analyzes multiple genes, facilitating accurate diagnosis, refined disease classification, prognostic stratification, measurable residual disease monitoring, and individualized therapeutic decision-making. Recent advances in targeted sequencing panels, whole-exome sequencing, whole-genome sequencing, and transcriptome analysis have significantly improved the understanding of the molecular landscape of leukemias, lymphomas, myelodysplastic syndromes, myeloproliferative neoplasms, and plasma cell disorders. Furthermore, the integration of NGS with emerging technologies-including single-cell sequencing, long-read sequencing, optical genome mapping, and artificial intelligence-has expanded the possibilities for precision hematology. Despite remarkable clinical benefits, challenges remain regarding data interpretation, standardization, variant classification, bioinformatics infrastructure, turnaround time, and healthcare costs. This review summarizes the current applications of NGS in hematology, highlights recent technological innovations, discusses existing limitations, and explores future perspectives for integrating genomic medicine into routine hematological practice.