The Neurogenetics laboratory offers a comprehensive range of clinical genetic tests for a wide range of neurological disorders, with a particular focus on neurodegenerative diseases. It plays a key role in providing early and accurate genetic diagnoses, which is an essential step in the effective management of these conditions.
By combining state-of-the-art technologies with expert interpretation of genetic variants, the laboratory contributes to uncovering the underlying causes of neurological diseases. This work improves risk assessment, clinical guidance, and therapeutic decision-making. It also enables predictive testing for at-risk family members, within the framework of genetic counseling at a medical genetics’ unit. A distinctive strength of the laboratory is its close collaboration with clinicians, ensuring the integration of genetic findings with the clinical presentation.
With a steadily growing demand for genetic testing from Neurology departments across public and private hospitals nationwide, the Neurogenetics laboratory has been recognized as a reference center in the field. Its extensive experience in variant analysis, together with the development of robust and well-curated genetic databases reflecting the population’s genetic landscape, and high-quality biobanking repositories, provides a strong foundation for translational research projects.
The Laboratory currently participates in international consortia, including the European Consortium on Early-Onset Dementia (EU-EOD) and the Genetic Initiative for Frontotemporal Dementia (GENFI), contributing to advances in global neurogenetics research.
In addition, the Laboratory is committed to education and training, supporting and supervising undergraduate and graduate students from multiple programs at the University of Coimbra, and actively engaging with patients’ associations and society to enhance awareness and literacy in neurodegenerative diseases.
Click here to download the Test Request Form
Click here to download the Instructions for Collection and Sending samples to the laboratory
