Pathogenic Variants

Pathogenic variants are changes or mutations in a person's DNA that can lead to diseases or health conditions. These genetic alterations can disrupt normal biological processes, causing issues in how the body functions. Some variants are inherited from parents, while others can occur spontaneously. Understanding these variants can help in diagnosing genetic disorders, predicting disease risk, and informing treatment options. Medical professionals often use genetic testing to identify pathogenic variants and provide personalized care based on an individual’s unique genetic profile.