Diagnosis of Inherited Neuromuscular Disorders by Next-Generation–Sequencing - Next Generation Sequencing Technologies in Medical Genetics - page 59

6.6 Summary

The NMD NGS panels offer cost-effective and more rapid molecular diagnostic
testing than the conventional sequential Sanger sequencing of associated genes.
A faster molecular diagnosis of NMD will have major impacts on patients as it will
improve disease management and genetic counseling, and will allow access to ther-
apy or inclusion into therapeutic trials. However, the targeted sequencing strategy
has limitations. As the current methods did not equal Sanger sequencing in terms of
analytical sensitivity and specifi city, mainly because of insuffi cient coverage of tar-
get regions, complementary Sanger sequencing seems to be necessary. Furthermore,
for the application of this approach to be used in clinical molecular diagnostics, the
analytical sensitivity and specifi city need to be determined according to the indi-
vidualized target enrichment methods and sequencing platforms.

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