A importância da NGS-Teste genético de nova geração no diagnóstico das doenças raras: Hipertermia maligna e Galactosemia

Abstract

The advancement of biotechnology, especially with the introduction of Next Generation Sequencing (NGS), has brought new possibilities for the early identification of rare diseases. This study aims to analyze the importance of NGS in the diagnosis of rare diseases, focusing on Malignant Hyperthermia and Galactosemia. The methodology used was a narrative literature review with a qualitative and exploratory approach, based on articles published between 2010 and 2025. The results show that NGS enables rapid and accurate detection of genetic mutations, reducing diagnostic time, improving therapeutic management, and contributing to the prevention of severe complications. However, barriers such as high cost, limited laboratory infrastructure, and lack of effective public policies still hinder its widespread implementation in Brazil. It is concluded that integrating NGS into the healthcare system is essential for diagnostic equity and scientific progress in the field of rare diseases.