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Ordering genetic testing by neurologists: points to consider

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Abstract

A significant challenge limiting the comprehensive utilization of genomic medicine is the lack of timely access to genetics specialists. Although neurologists see patients for whom genetic testing should be considered, the knowledge regarding the choice of the optimal genetic test for each case and the management of the test results are out of the scope of their everyday practice. In this review, we provide a step-by-step guide for non-geneticist physicians through the decision-making process when ordering diagnostic genetic testing for monogenic neurological diseases and when dealing with their results.

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Author information

Author notes

  1. Yael Goldberg and Lina Basel-Salmon contributed equally to this work.

Authors and Affiliations

  1. The Neurogenetics Clinic, Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel

    Avi Fellner

  2. Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel

    Yael Goldberg & Lina Basel-Salmon

  3. Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel

    Yael Goldberg & Lina Basel-Salmon

  4. Felsenstein Medical Research Center, Tel-Aviv University, Tel-Aviv, Israel

    Lina Basel-Salmon

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  1. Avi Fellner
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Correspondence to Avi Fellner.

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Fellner, A., Goldberg, Y. & Basel-Salmon, L. Ordering genetic testing by neurologists: points to consider. J Neurol 270, 3714–3722 (2023). https://doi.org/10.1007/s00415-023-11758-3

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  • DOI: https://doi.org/10.1007/s00415-023-11758-3

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