P606: Use of exome sequencing as a first-line test in a reference center for rare diseases in Northeastern Brazil

In recent decades, advances in medical genetics have revolutionized the ability to identify genetic variants associated with a wide range of clinical conditions, especially in individuals with rare diseases. Exome sequencing, which analyzes DNA coding regions responsible for the most known pathogenic variants, has become an essential diagnostic tool for identifying genetic anomalies in this context. This technique allows for a more targeted focus on regions that directly affect protein production, improving efficiency and accuracy in detecting genetic variants that impact health.