Neurological and Neuromuscular Disorders
Genetic Insights into Neurological and Neuromuscular Disorders
Understanding the genetic foundations of neurological and neuromuscular conditions.
Many neurological and neuromuscular disorders have a genetic basis, caused by inherited changes in DNA that affect nerve or muscle function. Early detection of these genetic variants can help reveal whether you carry changes linked to neurological or neuromuscular conditions — even before symptoms develop. Through advanced genetic testing, your DNA is analyzed using next-generation sequencing (NGS) technology to detect mutations associated with conditions such as muscular dystrophies, hereditary neuropathies, epilepsy syndromes, ataxias, and neurodevelopmental disorders, among others.
Testing Process
This analysis is performed using a simple and non-invasive buccal swab, which collects DNA from cheek cells. Depending on the specific condition, the testing may focus on targeted gene panels, whole exome sequencing (WES), or whole genome sequencing (WGS), offering different levels of detail based on clinical need.
Benefits of Genetic Insights
Genetic insights can help clarify complex symptoms, guide further medical evaluation, and support informed decision-making for long-term care.