Next-Generation Sequencing: A Game-Changer In Rare Disease Diagnosis

Rare diseases, distinguished by their low prevalence and often intricate genetic origins, have historically presented significant diagnostic challenges for healthcare providers. However, the emergence of Next-Generation Sequencing (NGS) has transformed this landscape, providing a powerful tool for identifying the genetic mutations that underlie these complex conditions. In contrast to traditional Sanger sequencing, which is both time-consuming and expensive, NGS can analyze entire genomes, exomes (the protein-coding regions of the genome), or specific gene panels in just a few days.

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