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Inherited cardiac arrhythmias

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Genetic testing for inherited arrhythmias

Individuals carrying a pathogenic variant for a dominantly inherited arrhythmia have a 50% likelihood of passing the variant on to their children, placing them at higher risk of developing the potentially life-threatening condition (1). 

Today, there are a several commercially available sequencing options for genetic testing of inherited arrhythmias, ranging from targeted panels (5-20 genes) to broad pan-arrhythmia panels (170+ genes) and whole exome sequencing (20,000+ genes).  While more comprehensive tests increase the sensitivity of variant detection, they also increase the detection of variants of unknown clinical significance, enhancing the complexity of interpretation. 

Types of inherited arrhythmic disorders

There are several types of inherited arrhythmic disorders. The most common types include:

  • Arrhythmogenic right ventricular dysplasia (ARVD)
  • Brugada syndrome (BrS)
  • Congenital long QT (LQT)
  • Congenital short QT intervals (SQT)
  • Early repolarization syndrome
  • Idiopathic ventricular fibrillation (IVF)

Challenges of interpreting multigene panels for arrhythmic disorders

The greatest challenge with any genetic testing is interpretation of results. However, as NGS panels for inherited arrhythmic disorders continue to increase in size, data analysis and interpretation becomes more complex and time-consuming.

Genetic heterogeneity – most inherited arrhythmia disorders are characterized by mutations in multiple genes.

Variants of unknown significance (VUS) – multigene panel testing increases the number of detected VUS, often in genes with limited evidence.

Specialized knowledge – interpreting genetic results requires a high degree of specialized knowledge.

Future reclassifications – many VUS will  likely require future reclassification  as additional evidence about the variant becomes available.

The QKB difference

"The industry's best kept secret"

The content core of QIAGEN’s clinical NGS variant interpretation and reporting solutions, the QIAGEN Knowledge Base (QKB) is unrivalled in breadth, depth, and accuracy, ensuring labs have access to the evidence, peer-reviewed literature, guidelines, drug labels, and clinical trial registries needed to interpret every variant with precision and confidence.

  • Built over 20 years and encompasses over 40 public and proprietary databases

  • Maintained by hundreds of certified MD- and PhD-level expert curators who enter more than 5,000 new findings each day

  • Contains the latest evidence from peer-reviewed papers, clinical and functional studies, on- and off-label drugs, and professional guidelines, such as NCCN, AMP/ASCO/CAP and the World Health Organization (WHO)

  • Updates list of recruiting clinical trials each week

  • 3,000+ QC tests and quality protocols
  • ISO-9001 certified for reproducibility

Solutions for analyzing and interpreting NGS diagnostic and predictive tests for inherited arrhythmia disorders

Database

Human Gene Mutation Database (HGMD) Professional

Shorten the diagnostic odyssey with the de-facto standard resource for identifying inherited disease-causing mutations. HGMD Professional leverages human expertise—every catalogued mutation has been “touched” by a trained scientist to ensure accuracy and relevance.

Software

QIAGEN Clinical Insight (QCI) Interpret

Dynamically classify variants, eliminate manual curation, and accelerate test turnaround time with clinical decision support software that enables rapid and confident variant interpretation and reporting of large NGS panels for inherited disorders.

Featured resources

Variant Interpretation Then and Now

How clinical labs can mprove the standardization and reproducibility of their variant interpretation pipelines

Breaking the Bottleneck in Clinical Genetic Testing

Best practices for selecting and implementing a tertiary analysis pipeline for variant interpretation

Power Up Your NGS Variant Knowledge

Discover how HGMD Professional helps labs analyze and annotate NGS data faster and with greater accuracy