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Genetic & Rare Disease

Cardiovascular Genomics

Comprehensive coverage of cardiac genes

Detect variants associated with cardiomyopathy and other heart diseases

Identify Key Cardiac Gene Variants

Cardiovascular genomics research has identified many genetic variants associated with cardiac conditions. Studies have shown that most causative gene variants are unique familial variants,1 and therefore, seen infrequently.2 Additionally, small panels used in clinical testing can miss causal gene variants implicated in inherited heart diseases.

Comprehensive next-generation sequencing (NGS) panels for cardiovascular genomics provide broad coverage of cardiac genes with known disease implications. Unlike single-gene assays or small panels, which lead to time-consuming and expensive iterative testing, NGS panels assess multiple cardiac genes simultaneously.

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

NGS for Cardiovascular Genomics

Join Dr. Amit V. Khera as he discusses how understanding genetic variation can be used to improve clinical care in cardiovascular disease and other important diseases. This webinar discusses the contribution of rare pathogenic variants to sudden cardiac death and cardiovascular disease, polygenic risk scores, and implications for clinical medicine.

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Sudden Cardiac Arrest

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

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Featured Cardiovascular Genomics Research

The Pharmacogenetics of Cardiovascular Disease Therapy

Researchers at the Montreal Heart Institute used Illumina microarrays to identify responder genotypes in a failed cholesterol drug trial.

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Can Genetic Testing Improve Cardiovascular Outcomes?

Dr. Joshua Knowles discusses the importance of genetic cascade testing in familial hypercholesteremia, as well as implementing polygenic risk scores in clinical care.

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Using Genetics to Predict Heart Attack Risk

Dr. Guillaume Paré discusses how genetics can help identify people at risk for familial hypercholesterolemia and early cardiovascular disease.

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Cardiomyopathy Gene Panel

TruSight Cardio offers a single NGS-based solution for cardiomyopathy and cardiac gene research. It targets 174 genes with known associations to 17 inherited cardiac conditions.

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One Comprehensive Tool for Cardiovascular Genomics

TruSight Cardio covers 174 genes in a single workflow, reducing the cost of managing multiple assays.

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Cardiac Conditions Targeted by TruSight Cardio

Cardiomyopathies
  • General cardiomyopathy
  • Hypertrophic cardiomyopathy
  • Dilated cardiomyopathy
  • Arrhythmogenic right ventricular cardiomyopathy
  • Noonan syndrome
  • Non-compaction cardiomyopathy
  • Restrictive cardiomyopathy
Arrhythmias
  • General arrhythmias
  • Long QT syndrome
  • Brugada syndrome
  • Short QT syndrome
  • Catecholaminergic polymorphic ventricular tachycardia
  • Familial atrial fibrillation
Aortopathies
  • General aortopathy
  • Marfan syndrome
  • Loeys-Dietz syndrome
  • Familial aortic syndrome
  • Aortic valve disease
Other cardiac conditions
  • Familial hypercholesterolemia
  • Structural heart disease

Featured Products

TruSight Cardio
TruSight Cardio

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

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NextSeq 2000 System and Reagents
NextSeq 2000 System and Reagents

NextSeq 2000 is redesigned from the ground up to maximize future proofing, offering sequencing power for high throughput applications.

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MiSeq System and Reagents
MiSeq System and Reagents

Focused power for targeted resequencing, metagenomics, small genome sequencing, targeted gene expression profiling, and more.

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References
  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.