Neurological illnesses affect millions of people all over the world, regardless of their age, gender, education or social status. In western countries 16% of the total population suffers from some kind of neurological disorder, of which approximately 20% suffer from a serious neurological illness (such as neuromuscular or neurodegenerative illnesses among others). The other affected people suffer from other neurological illnesses that, although aren’t as serious, cause serious repurcussions in the quality of their family, social or work life, as well as a financial cost to the health system. 

Correct diagnosis and categorisation of neurological patients is essential to ensure appropriate treatment and management.

Unfortunately, traditional clinic diagnosis of neurological illnesses is compromised by its diverse nature, the high number of existing  subtypes and overlapping phenotypes.

Recent studies show that in a high number of cases of serious neurological illnesses such as epilepsy or  developmental delay, a genetic alteration can de detected. This data positions genetic testing as the most efficient way of obtaining a differential diagnosis among neurological illnesses which is essential in finding the most appropriate treatment for a patient.

Genetic diagnosis is also a powerful tool in evaluating the risk to relatives of the patient in suffering from the same illness. Risk evaluation allows preventative treatment to be carried out, changes in lifestyle and help with family planning. What’s more, it shows that the health professionals are able to intensify the routine medical controls.

Our neurological NGS panels include genes which are clinically associated with neurological pathologies: