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Updated: Mar 5, 2026

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Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease

Dorien Proost1, Johan Saenen2, Geert Vandeweyer1

  • 1Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.

The Journal of Molecular Diagnostics : JMD
|March 26, 2017
PubMed

Insights

A new genetic test accurately screens for primary electrical diseases (PED), a group of inherited heart rhythm disorders. This reliable assay identifies genetic variants, aiding in the diagnosis of cardiac arrhythmias and sudden cardiac death risk.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Diagnostics
  • Genomic Medicine

Background:

  • Primary electrical disease (PED) comprises inherited cardiac arrhythmia syndromes.
  • These conditions can cause sudden cardiac death without apparent structural heart issues.
  • Diagnostic challenges arise from PED's clinical and genetic diversity.

Purpose of the Study:

  • To develop and validate a targeted gene panel for next-generation sequencing of 51 PED-associated genes.
  • To establish a reliable diagnostic tool for primary electrical diseases.

Main Methods:

  • Developed a targeted gene panel assay (PED Multiplex Amplification of Specific Targets for Resequencing Plus).
  • Utilized next-generation sequencing on MiSeq platform.
  • Validated the panel using 39 control samples, achieving 100% analytical sensitivity and 99.9% specificity.

Main Results:

  • Applied the validated assay to 114 PED patients.
  • Identified 107 variants across 36 genes.
  • Classified 18 variants as pathogenic/likely pathogenic, 54 as unknown significance, and 35 as likely benign.

Conclusions:

  • The developed assay is a proficient and highly reliable tool for routine screening of primary arrhythmias.
  • This genetic testing approach aids in diagnosing patients with primary electrical diseases.
  • The panel facilitates the identification of disease-causing variants in inherited cardiac arrhythmia syndromes.

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