Several advanced diagnostic tools have emerged in recent years, revolutionizing the field of genetic mutations. Here are some of the most notable ones:
Next-Generation Sequencing (NGS): NGS allows for the rapid sequencing of entire genomes or specific regions of interest. This technology has made it possible to identify rare genetic mutations and understand their functional impacts. CRISPR-Cas9: While primarily known for its gene-editing capabilities, CRISPR-Cas9 can also be used for diagnostic purposes. It can specifically target and identify mutations in DNA sequences, making it a powerful tool for mutation detection. Microarray Analysis: This tool enables the simultaneous examination of thousands of genes, providing a comprehensive overview of genetic variations. Microarray analysis is particularly useful for identifying copy number variations and single nucleotide polymorphisms. Digital PCR: Digital PCR offers highly sensitive and quantitative detection of genetic mutations. It is especially valuable for detecting low-abundance mutations in complex samples, such as cancer biopsies. Exome Sequencing: This technique focuses on sequencing the exome, which includes all the protein-coding regions of the genome. Exome sequencing is cost-effective and efficient for identifying mutations associated with rare genetic disorders.
