Clinically actionable next-generation sequencing

For individuals affected by cardiovascular disease, genetic testing can identify underlying heritable causes, confirm a diagnosis, and provide insights on prognosis, clinical management, and risk of recurrence. Genetic testing can also help providers understand the need for additional screening recommendations for patients and family members.

Mayo Clinic Laboratories’ cardiovascular genetic testing is among the most comprehensive diagnostic testing available and includes multiple disease-focused panels comprising over 300 genes. Our full suite of cardiogenetic panels was developed to align with expert consensus guidelines on genetic testing for hereditary cardiovascular disease.1-6 Results from our testing can facilitate gene-based management strategies, such as surgical interventions and pharmacologic management, as well as support familial cascade testing when a reportable variant is detected.

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Our integration with the clinical cardiology practice at Mayo Clinic translates into the development of high-quality, clinically useful tests backed by unparalleled experience and expertise. In addition, the engagement of laboratory genetic counselors in case review and result interpretation ensures patients receive the right test and providers receive clear interpretations correlated with their patient’s personal medical history.

Cardiomyopathies and arrhythmias

Our panels for hereditary cardiomyopathy and cardiac arrhythmia offer both disease-specific and comprehensive testing options.

Key testing


Connective tissue and vascular fragility disorders

Genetic testing for thoracic aortic disease and other forms of connective tissue disease can differentiate among Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome, heritable thoracic aortic disease/aortopathy, and related conditions with overlapping clinical presentations.

Key testing


The genetics of dyslipidemia can be complex, and these conditions are often underdiagnosed. Our gene panels aid in the diagnosis of patients with both common and rare forms of dyslipidemia.

Key testing


These tests are unique in their ability to evaluate postmortem tissue samples for underlying genetic causes of sudden cardiac death. 

Key testing


Other testing

Congenital heart disease (CHD) impacts approximately 1% of live births and may be isolated (nonsyndromic) or part of a systemic condition involving additional congenital anomalies (syndromic). Genetic testing can assist in identifying the cause of CHD.

Key testing

  1. Wilde AAM, Semsarian C, Marquez MF, et al. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Hearth Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases. Europace 2022;24:1307-1367
  2. Hershberger RE, Givertz MM, Ho CY, et al. Genetic evaluation of cardiomyopathy-A Heart Failure Society of America Practice Guideline. J Card Fail. 2018;24(5):281-302. doi:10.1016/j.cardfail.2018.03.004
  3. Al-Khatib: AHA/ACC/HRS guideline for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society. Heart Rhythm. 2017 Oct; doi:10.1016/j.hrthm.2017.10.036
  4. Priori SG, Blomström-Lundqvist C, Mazzanti A, et al. 2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: The Task Force for the Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death of the European Society of Cardiology (ESC). Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC). Eur Heart J. 2015;36(41):2793-2867. doi:10.1093/eurheartj/ehv316
  5. Sturm AC, Knowles JW, Gidding SS, et al. Clinical genetic testing for familial hypercholesterolemia: JACC scientific expert panel. J Am Coll Cardiol. 2018;72(6):662-680. doi:10.1016/j.jacc.2018.05.04
  6. Erbel R, Aboyans V, Boileau C, et al. 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC) [published correction appears in Eur Heart J. 2015 Nov 1;36(41):2779]. Eur Heart J. 2014;35(41):2873-2926. doi:10.1093/eurheartj/ehu281

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