Cardiology
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
- CACMG | Comprehensive Arrhythmia and Cardiomyopathy Gene Panel, Varies
- 105 genes associated with hereditary cardiomyopathies and arrhythmias.
- CARGG | Comprehensive Arrhythmia Gene Panel, Varies
- 44 genes associated with hereditary arrhythmias.
- CCMGG | Comprehensive Cardiomyopathy Gene Panel, Varies
- 83 genes associated with hereditary cardiomyopathies.
- ARVGG | Arrhythmogenic Cardiomyopathy Gene Panel, Varies
- 18 genes associated with arrhythmogenic cardiomyopathy.
- CPVTG | Catecholaminergic Polymorphic Ventricular Tachycardia Gene Panel, Varies
- 7 genes associated with catecholaminergic polymorphic ventricular tachycardia.
- DCLNG | Dilated Cardiomyopathy and Left Ventricular Noncompaction Cardiomyopathy Gene Panel, Varies
- 63 genes associated with dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy.
- HCMGG | Hypertrophic Cardiomyopathy Gene Panel, Varies
- 48 genes associated with hypertrophic cardiomyopathy.
- LQTSG | Long QT Syndrome Gene Panel, Varies
- 10 genes associated with long QT syndrome.
- NSRGG | Noonan Syndrome and Related Conditions Gene Panel, Varies
- 20 genes associated with Noonan syndrome and related conditions.
- SQTSG | Short QT Syndrome Gene Panel, Varies
- 4 genes associated with short QT syndrome.
- SCN5A | Brugada Syndrome, SCN5A Full Gene Analysis, Varies
- SCN5A gene associated with Brugada syndrome.
Highlights
In this month's "Hot Topic," Linnea Baudhuin, Ph.D., discusses Mayo Clinic Laboratories’ up-to-date gene panel tests for cardiomyopathies and arrhythmias, connective tissue and vascular fragility disorders, dyslipidemias, and congenital heart disease.
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
- CAORG | Comprehensive Marfan, Loeys-Dietz, Ehlers-Danlos, and Aortopathy Gene Panel, Varies
- 48 genes associated with Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndromes, and related aortopathies.
- CVHBG | Comprehensive Cerebrovascular Gene Panel, Varies
- 30 genes associated with stroke and cerebrovascular fragility.
- EDSGG | Ehlers-Danlos Syndrome Gene Panel, Varies
- 22 genes associated with Ehlers-Danlos syndromes.
- HHTGG | Hereditary Hemorrhagic Telangiectasia and Vascular Malformations Gene Panel, Varies
- 12 genes associated with hereditary hemorrhagic telangiectasia and vascular malformations.
- MFBNG | FBN1 Full Gene Sequencing with Deletion/ Duplication, Varies
- FBN1 gene associated with Marfan syndrome and other fibrillinopathies.
- MFRGG | Marfan, Loeys-Dietz, and Aortopathy Gene Panel, Varies
- 30 genes associated with Marfan syndrome, Loeys-Dietz syndrome, and related aortopathies.
- OIBFG | Osteogenesis Imperfecta and Bone Fragility Gene Panel, Varies
- 25 genes associated with osteogenesis imperfecta and other hereditary bone fragility conditions.
DYSLIPIDEMIAS
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
- HCHLG | Hypercholesterolemia Gene Panel, Varies
- 12 genes associated with hereditary low-density lipoprotein (LDL) hypercholesterolemia.
- HYPBG | Hypobetalipoproteinemia Gene Panel, Varies
- 5 genes associated with hereditary hypobetalipoproteinemia.
- HYPTG | Hypertriglyceridemia Gene Panel, Varies
- 13 genes associated with hereditary hypertriglyceridemia.
- LIPOG | Lipodystrophy Gene Panel, Varies
- 12 genes associated with hereditary lipodystrophies.
Postmortem
These tests are unique in their ability to evaluate postmortem tissue samples for underlying genetic causes of sudden cardiac death.
Key testing
- PMAOG | Postmortem Aortopathy Gene Panel, Tissue
- 31 genes associated with Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome, heritable thoracic aortic disease/aortopathy, and related conditions.
- PMARG | Postmortem Arrhythmia Gene Panel, Tissue
- 44 genes associated with hereditary forms of cardiac arrhythmias.
- PMCAG | Postmortem Cardiomyopathy and Arrhythmia Gene Panel, Tissue
- 105 genes associated with hereditary forms of cardiomyopathy and cardiac arrhythmia.
- PMCMG | Postmortem Cardiomyopathy Gene Panel, Tissue
- 83 genes associated with hereditary forms of cardiomyopathy.
Highlights
Linnea Baudhuin, Ph.D., and Kate Kotzer, M.S., CGC, describe how Mayo Clinic Laboratories' postmortem genetic tests can provide answers after a sudden unexplained cardiac death. Test results are important for managing family members' risk for cardiovascular disease.
For over two decades, Mayo Clinic has been at the forefront of cardiovascular (CV) genetic testing. The current test menu features 24 different panels that span over 300 genes linked to inherited cardiovascular disorders, many of which are rare and challenging to diagnose. Whereas many labs operate in a “silo” — meaning they take a genetic specimen, test it, and then return a result with limited input — Mayo Clinic takes a much more expansive approach.
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
- CHDGG | Congenital Heart Disease Gene Panel, Varies
- 44 genes associated with congenital heart disease.
- PRKSG | PRKAR1A Full Gene Sequencing with Deletion/ Duplication, Varies
- PRKAR1A gene associated with Carney complex.
References
- 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
- 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
- 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
- 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
- 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
- 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