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Chapter 7 - Genetic Testing

from Part I - Evaluation and Treatment of Patients with a Neuromuscular Disorder

Published online by Cambridge University Press:  29 November 2024

Jessica E. Hoogendijk ,
Marianne de Visser ,
Pieter A. van Doorn  and
Erik H. Niks
By
Wouter van Rheenen
Jessica E. Hoogendijk
Affiliation:
University Medical Center Utrecht
Marianne de Visser
Affiliation:
Amsterdam University Medical Center
Pieter A. van Doorn
Affiliation:
Erasmus MC, University Medical Center, Rotterdam
Erik H. Niks
Affiliation:
Leiden University Medical Center
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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).

Keywords

genetic testingwhole exome sequencingwhole genome sequencingnext-generation sequencingsingle gene testing MLPAVUS
Type
Chapter
Information
Neuromuscular Disease
A Case-Based Approach
 , pp. 52 - 56
Publisher: Cambridge University Press
Print publication year: 2024

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References

Useful Databases

Genome Aggregation Database, http://gnomad.broadinstitute.orgGoogle Scholar
OMIM: An Online Catalog of Human Genes and Genetic Disorders, omim.orgGoogle Scholar

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