Eirini Papadopoulou
Technological advancements have facilitated the availability of reliable and thorough genetic analysis in many medical fields, including neurology. In this review, we discuss currently applied technologies for monogenic neurological disorders analysis focusing on the value of the selection of the appropriate genetic test to assist an accurate disease diagnosis. Moreover, the applicability of comprehensive analysis via NGS for various genetically heterogeneous neurological disorders is reviewed, revealing its efficiency in clarifying a frequently cloudy diagnostic picture and delivering a conclusive and solid diagnosis that is essential for the proper management of the patient. The feasibility and effectiveness of medical genetics in neurology require interdisciplinary cooperation among several medical specialties and geneticists, to select and perform the most relevant test according to each patient's medical history, using the most appropriate technological tools. In addition, the prerequisites for a comprehensive genetic analysis are discussed, highlighting the utility of using multigene NGS panels and obtaining a family history to increase the percentage of patients with informative genetic testing. Finally, we review the current applications of genetic analysis in the diagnosis and personalized treatment of neurological patients and the advances in the research and scientific knowledge of hereditary neurological disorders that are evolving the utility of genetic analysis towards the individualization of the treatment strategy.
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