Neurol. praxi. 2026;27(3):208-217 | DOI: 10.36290/neu.2026.016

Genetics in neurology: What can be expected from genetic testing in neurological patients?

RNDr. Anna Uhrová Mészárosová, Ph.D., Mgr. Alena Musilová, Ph.D., doc. MUDr. Dana Šafka Brožková, Ph.D.

Neurogenetická laboratoř Kliniky dětské neurologie, 2. lékařská fakulta Univerzita Karlova a Fakultní nemocnice Motol a Homolka, Praha

A large proportion of neurological diseases have a genetic origin, and this genetic background cannot be simplified into a single category. Conversely, most genetically determined diseases have neurological manifestations. Furthermore, thanks to current molecular genetic methods and new treatment options for genetic diseases, we are on the threshold of a new era. Currently, exome sequencing is the gold standard for investigating heterogeneous diseases, which include most genetic neurological disorders. However, like other diagnostic molecular genetic methods, it has its limits and specific applications. Despite the rapid development of genetic diagnostic methods, we are only able to clarify the genetic background of neurological diseases in a fraction of patients. In addition, genetic testing brings specific challenges and risks, including ethical issues. Artificial intelligence tools are now also being introduced for processing genetic data. In any case, genetics will play an increasingly important role in neurology and medicine as a whole. Therefore, it is essential to realize what capabilities it currently has and what expectations we can have of it.

Keywords: neurogenetic diseases, molecular genetic diagnostics, NGS, exome sequencing, genome sequencing, long-read sequencing, bioinformatic analysis, incidental findings.

Received: February 27, 2026; Revised: February 27, 2026; Accepted: March 12, 2026; Prepublished online: March 12, 2026; Published: July 20, 2026  Show citation