First Department of Neurology, Aeginition Hospital, National and Kapodistrian University of Athens, Athens, Greece
Research Article
The evolution of comprehensive genetic analysis in Neurology: implications for precision medicine
Author(s): Eirini Papadopoulou*, Georgia Pepe, Spiridon Konitsiotis, Maria Chondrogiorgi, Nikolaos Grigoriadis, Vasilios K Kimiskidis, Georgios Tsivgoulis, Dimos D Mitsikostas, Elisabeth Chroni, Eleni Domouzoglou, Georgios Tsaousis and Georgios Nasioulas
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 sele.. View More»
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