NGS for inherited cardiac condition research

Empowering research into the identification of cardiomyopathy gene variants

Inherited Cardiac Conditions

Next-generation sequencing (NGS) with cardiac and cardiomyopathy gene panels can provide comprehensive coverage of genes with known associations to inherited heart conditions.

Inherited cardiac conditions are associated with many different genes, with most causative gene variants being unique familial variants1, and therefore, seen infrequently.2 Additionally, panels currently used in clinical research can miss causal gene variants implicated in inherited cardiac conditions (ICCs).

Single-gene assays or assays with smaller gene sets lead to time-consuming and expensive iterative testing for ICCs. NGS of multiple cardiac genes simultaneously results in maximum efficiency not found in other modalities.

NGS comprehensive coverage of cardiac genes
Sudden cardiac arrest (SCA) is one of the leading causes of nontraumatic mortality in the US; 25% of these cases are related to an inherited cardiac condition (ICC).3-5
Sudden Cardiac Arrest Infogaphic

We’re empowering research into cardiovascular disease and cardiomyopathy gene variants with TruSight Cardio, a targeted gene panel. It uses NGS to simultaneously analyze 174 genes associated with ICCs, therefore maximizing insights.

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Expert Insights on the TruSight Cardio Sequencing Kit
  • General cardiomyopathy
  • Hypertrophic cardiomyopathy
  • Dilated cardiomyopathy
  • Arrythmogenic right ventricular cardiomyopathy
  • Noonan syndrome
  • Non-compaction cardiomyopathy
  • Restrictive cardiomyopathy
  • General arrhythmias
  • Long QT syndrome
  • Brugada Syndrome
  • Short QT syndrome
  • Catecholaminergic polymorphic ventricular tachycardia
  • Familial atrial fibrillation
  • General aortopathy
  • Marfan syndrome
  • Loeys-Dietz syndrome
  • Familial aortic syndrome
  • Aortic valve disease
Other cardiac conditions
  • Familial hypercholesterolemia
  • Structural heart disease

We offer a comprehensive workflow with coverage of cardiac gene variants with known associations to inherited heart conditions. The TruSight Cardio Sequencing Kit is fully supported on the MiSeq and NextSeq 500/550 Sequencing Systems.

Sequence data are exported as .vcf files and imported easily into the VariantStudio software for analysis.


Access more focused applications such as targeted gene sequencing, metagenomics, small genome sequencing, targeted gene expression, and amplicon sequencing.

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NextSeq 500/550 Sequencing Systems

Perform NGS and microarray scanning all on one system.

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TruSight Cardio Sequencing Kit

A comprehensive, cost-effective NGS panel for identifying cardiac and cardiomyopathy gene variants implicated in inherited cardiac conditions.

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Bringing Bioinformatics Pipeline In-House Reduces Costs and Decreases Turnaround Time

Phosphorus uses the DRAGEN Bio-IT Platform to perform genomics data analysis onsite and at an accessible price point.

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ICC Infographic

See vital statistics around sudden cardiac arrest, one of the leading causes of non-traumatic fatality in the US.

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TruSight Cardio Handout

Read valuable information on sudden cardiac arrest and the relation to inherited cardiac conditions.

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Gene List

View all 174 genes, related to 17 ICCs, detected by the TruSight Cardio Sequencing Kit.

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  1. Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies. Europace. 2001;13(8):1077-1109.
  2. Ashley EA, Hershberger RE, Caleshu C, Ellinor PT, Garcia JGN, et al. Genetics and cardiovascular disease: a policy statement from the American Heart Association. Circulation. 2012;126(1)142-157. Epub 2012 May 29.
  3. Zipes DP, Wellens HJ. Sudden cardiac death. Circulation. 1998;98(21):2334-2351.
  4. Deo R, Albert CM. Epidemiology and genetics of sudden cardiac death. Circulation. 2012;125(4):620-637.
  5. Data on file. Illumina, Inc.