Technological advancement in genetics has triggered the exponential development of genetic testing, fundamental tools in modern medicine. This article reviews the main technologies currently used—karyogram, fluorescence in situ hybridization (FISH), chromosomal microarray analysis (CMA), multiplex ligation-dependent probe amplification (MLPA), Sanger Sequencing, next-generation sequencing (NGS), long-read sequencing (LRS), and optical genome mapping (OGM)—analyzing their capabilities, limitations, and specific clinical applications. Emerging technologies such as LRS and OGM resolve some limitations of previous methodologies, particularly in complex genomic regions and structural variants. Appropriate selection of genetic testing requires understanding their technical capabilities and clinical, ethical, and economic considerations to optimize diagnostic performance. Successful implementation of these tests requires genetic counseling that enables understanding of results and their implications.
Albornoz Arriagada, G., & Alarcon Arias, P. (2025). Genetic Testing: Advances, challenges and future perspectives. Revista Hospital Clínico Universidad De Chile, 36(3), 236–245. https://doi.org/10.5354/2735-7996.2025.79314
