Exome & General Genetics

Session # Abstract Poster# 339

Clinical Diagnostic Exome Sequencing in Patients with Neuromuscular Disorders: Genetic Testing Challenges for Complex Conditions

  • This abstract (poster) describes a cohort of 560 cases sent for exome sequencing with a suspected neuromuscular disorder (NMD) and the detection rates and clinical features of these patients.
  • Overall, 133/560 (23.8%) cases with suspected NMDs had a positive result: a 19.7% detection rate in proband-only cases, 21.4% in duos and 25.4% in trios. Trio cases also had an additional 2.2% novel candidate detection rate.
  • This is similar to the detection rate of other exome cohorts; many of whom have previous genetic testing, and in whom clinical phenotype is not straightforward.
  • Due to the diverse clinical manifestations of NMDs, diagnosis can be challenging and exome sequencing has the advantage of re-classification, findings in multiple genes and diagnosis for many individuals with complex clinical presentations in which MGPT was not helpful or may not be straightforward.

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