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1 results

  • Chapter 7 - Genetic Testing

  • from Part I - Evaluation and Treatment of Patients with a Neuromuscular Disorder
  • Jessica E. Hoogendijk, University Medical Center Utrecht, Marianne de Visser, Amsterdam University Medical Center, Pieter A. van Doorn, Erasmus MC, University Medical Center, Rotterdam, Erik H. Niks, Leiden University Medical Center
  • Book:
    Neuromuscular Disease
    Published online:
    29 November 2024
    Print publication:
    19 December 2024, pp 52-56

  • Summary

    Driven by technological advances, an ever-increasing number of genes and mutations are implicated in neuromuscular diseases. This has led to revised classifications of neuromuscular diseases and expanding phenotypic spectra related to single genes. As a result, gene-targeted therapies are emerging. Combined with the reduction in costs of genome sequencing, genetic testing plays an increasingly important role in the diagnostic process of neuromuscular diseases. Nevertheless, caution is warranted since results of genome sequencing can be challenging regarding the interpretation of the results. Here we discuss general principles that aid the efficient use of genetic testing that may improve the interpretation of results (see Table 7.1).