New insights into heart conditions. Deep experience in patient care.  

When a heart condition impacts a patient, their care team needs to understand why.

In the search for answers, genetic testing is no longer a last resort — it is a key component in diagnosing and managing cardiovascular conditions. With a test menu honed through years of research, and clinical experience with the most complex cardiac cases, we can help you put your patients on the best path forward.

Expand your understanding

Genetic testing is an essential complement to your strategies for diagnosing and managing patients with cardiovascular conditions. Our test menu contains 24 disease-focused panels that represent the forefront of cardiovascular genetic testing.

Cardiomyopathies and arrhythmias

Connective tissue and vascular fragility disorders

Dyslipidemias

Additional cardiovascular genetic testing

Investigation that drives innovation

As clinical consensus guidelines have changed, we have remained on the forefront. Our laboratory and clinical experts are continuously engaged in research that has direct impact on our testing and clinical practice.

We support you, every step of the way

When you order a cardiovascular genetic test from Mayo Clinic Laboratories, you are partnering with a team of clinical and laboratory experts. Throughout the testing process, you are supported by an integrated team that understands the testing’s technical and clinical aspects and incorporates a genetic counseling perspective.

1.

Ordering

Laboratory genetic counselors are available to consult with providers, ensuring patients receive the right test based on their personal medical history.

2.

Testing

Genetic testing is conducted by experts with experience in the relevant disease state, and results are assessed in the context of the patient information provided.

3.

Interpretation

A clear report is generated for the ordering physician. Genetic counselors and laboratory experts are available to consult with providers to discuss results and the need for follow-up testing.

Clinically actionable results for your patients

Rooted in integrated research and practice experience, our comprehensive test menu of disease-focused panels provides the maximum depth of coverage, highest possible detection rates, and low false negative and false positive rates across all included genes. You can also build a customized gene panel to meet your patients’ specific needs. Learn more about what makes our testing different.

24

disease-specific panels

300

clinically relevant genes analyzed

55+

published studies in the area of cardiovascular genetics

Why genetic testing

Patients with distinct cardiovascular conditions often present with similar symptoms. That’s why genetic testing is such an important guide in diagnosis — a fact that consensus clinical guidelines have changed to reflect.14-19 Genetic testing can provide key insights to guide patient care, for patients and their families.

The patient

Genetic testing can identify underlying heritable causes for heart conditions, enable diagnosis, and provide insights on prognosis, clinical management, and risk of recurrence. Depending on the specific condition identified, patients may need different care, such as surgical interventions and pharmacologic management.

Their family

When a patient is diagnosed with a cardiac condition that is thought to be inherited, other family members may need to be screened. Genetic testing can provide a diagnosis, help prevent future events, and, equally important, rule out a diagnosis, which will allow family members to move forward with normal activities.

Learn more about how to integrate genetic testing in your practice.

References

  1. Tester DJ, Benton AJ, Train L, Deal B, Baudhuin LM, Ackerman MJ.  Prevalence and spectrum of large deletions or duplications in the major long QT syndrome-susceptibility genes and implications for long QT syndrome genetic testing. Am J Cardiol. 2010 Oct 15; 106 (8):1124-8 PMID: 20920651   PMCID: 2950837   DOI: 10.1016/j.amjcard.2010.06.022
  2. Baudhuin LM, Kotzer KE, Lagerstedt SA.  Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events. Genet Med. 2015 Mar; 17 (3):177-87 Epub 2014 Aug 07 PMID: 25101912   DOI: 10.1038/gim.2014.91   
  3. Baudhuin LM, Kotzer KE, Lagerstedt SA.  Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants. J Hum Genet. 2015 May; 60 (5):241-52 Epub 2015 Feb 05 PMID: 25652356   DOI: 10.1038/jhg.2015.10   
  4. Narula N, Tester DJ, Paulmichl A, Maleszewski JJ, Ackerman MJ.  Post-mortem Whole exome sequencing with gene-specific analysis for autopsy-negative sudden unexplained death in the young: a case series. Pediatr Cardiol. 2015 Apr; 36 (4):768-78 Epub 2014 Dec 13 PMID: 25500949   PMCID: 4907366   DOI: 10.1007/s00246-014-1082-4         
  5. Harmon KG, Asif IM, Maleszewski JJ, et al.  Incidence, Cause, and Comparative Frequency of Sudden Cardiac Death in National Collegiate Athletic Association Athletes: A Decade in Review. Circulation. 2015 Jul 7; 132 (1):10-9 Epub 2015 May 14 PMID: 25977310   PMCID: 4496313   DOI: 10.1161/CIRCULATIONAHA.115.015431
  6. Baudhuin LM, Leduc C, Train LJ, et al.  Technical Advances for the Clinical Genomic Evaluation of Sudden Cardiac Death: Verification of Next-Generation Sequencing Panels for Hereditary Cardiovascular Conditions Using Formalin-Fixed Paraffin-Embedded Tissues and Dried Blood Spots. Circ Cardiovasc Genet. 2017 Dec; 10 (6) PMID: 29237689   DOI: 10.1161/CIRCGENETICS.117.001844   
  7. Ashar FN, Mitchell RN, Albert CM, et al.  A comprehensive evaluation of the genetic architecture of sudden cardiac arrest. Eur Heart J. 2018 Nov 21; 39 (44):3961-3969 PMID: 30169657   PMCID: 6247663   DOI: 10.1093/eurheartj/ehy474
  8. Baudhuin LM, Kluge ML, Kotzer KE, Lagerstedt SA.  Variability in gene-based knowledge impacts variant classification: an analysis of FBN1 missense variants in ClinVar. Eur J Hum Genet. 2019 Oct; 27 (10):1550-1560 Epub 2019 June 21 PMID: 31227806   PMCID: 6777626   DOI: 10.1038/s41431-019-0440-3
  9. Pereira NL, Farkouh ME, So D, et al.  Effect of Genotype-Guided Oral P2Y12 Inhibitor Selection vs Conventional Clopidogrel Therapy on Ischemic Outcomes After Percutaneous Coronary Intervention: The TAILOR-PCI Randomized Clinical Trial. JAMA. 2020 Aug 25; 324 (8):761-771 PMID: 32840598   PMCID: 7448831   DOI: 10.1001/jama.2020.12443
  10. Kelly KL, Lin PT, Basso C, et al.  Sudden cardiac death in the young: A consensus statement on recommended practices for cardiac examination by pathologists from the Society for Cardiovascular Pathology. Cardiovasc Pathol. 2023 Mar-Apr; 63:107497 Epub 2022 Nov 12 PMID: 36375720   DOI: 10.1016/j.carpath.2022.107497 
  11. Venable E, Knight DRT, Thoreson EK, Baudhuin LM.  COL1A1 and COL1A2 variants in Ehlers-Danlos syndrome phenotypes and COL1-related overlap disorder. Am J Med Genet C Semin Med Genet. 2023 Mar 9 Epub 2023 Mar 09 PMID: 36896471   DOI: 10.1002/ajmg.c.32038   
  12. Deignan JL, De Castro M, Horner VL, et al. Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023 Feb 16; 100017 [Epub ahead of print] PMID: 36799919   DOI: 10.1016/j.gim.2023.100017
  13. Garmany R, Bos JM, Tester DJ, et al.  Multi-Omic Architecture of Obstructive Hypertrophic Cardiomyopathy. Circ Genom Precis Med. 2023 Apr; 16 (2):e003756 Epub 2023 Feb 20 PMID: 36802768   DOI: 10.1161/CIRCGEN.122.003756  
  14. 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 Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases. Europace. 2022;24:1307-1367.
  15. 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
  16. Al-Khatib SM, Stevenson WG, Ackerman MJ, et al. 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
  17. 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
  18. 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
  19. 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