Ordering genetic testing by neurologists: points to consider

Avi Fellner*, Yael Goldberg, Lina Basel-Salmon

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

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.

Original languageEnglish
Pages (from-to)3714-3722
Number of pages9
JournalJournal of Neurology
Volume270
Issue number8
DOIs
StatePublished - Aug 2023

Keywords

  • Exome sequencing
  • Gene panel
  • Genetic testing
  • Genome sequencing
  • Neurogenetics
  • Variant of uncertain significance

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