Improve outcomes through identification of heritable causes    

Clinically actionable next-generation sequencing testing

For individuals affected by cardiovascular disease including cardiomyopathy, cardiac arrhythmia, dyslipidemia, vascular fragility, and connective tissue disease, genetic testing can identify underlying heritable causes, enable 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 offers a full suite of cardiogenetic panels, which are comprised of genes with established clinical significance and were developed by a team of Mayo Clinic genetic counselors, laboratory directors, and cardiac clinicians. Our integration with the clinical cardiology practice at Mayo Clinic translates into development of high-quality, clinically useful tests backed by unparalleled experience and expertise.

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.

Testing advantages

  • Offers confirmatory diagnoses for conditions with genetic heterogeneity.
  • Clarifies cases with phenotypic overlap.
  • Provides prognostic insights.
  • Facilitates gene-based management strategies, such as surgical interventions and pharmacologic management.
  • Allows for familial cascade testing when a reportable variant is detected.
  • Aligns with expert consensus guidelines on genetic testing for hereditary cardiovascular disease.1-6

Advanced analysis to diagnose genetic disease

Mayo Clinic Laboratories’ cardiovascular genetic testing is among the most comprehensive diagnostic testing available. Including multiple disease-focused panels comprising more than 300 genes, these tests use next-generation sequencing to evaluate clinically relevant genes across several disease states.

These evaluations:

  • Provide the maximum depth of coverage, highest possible detection rates, and low false negative and false positive rates across all included genes.
  • Detect both small variants, including single nucleotide variants and insertions and deletions, and copy number variants.
  • Use long-range polymerase chain reaction (PCR) analysis to detect variants in technically challenging genes.
  • Provide standard coverage of +/-10 base pairs flanking each coding exon along with expanded coverage to detect rare, clinically actionable intronic genetic variants.

Key testing

Cardiomyopathies and arrhythmias

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.

Connective tissue and vascular fragility disorders

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

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.

Additional cardiovascular genetic 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.

Learn more about how to order these tests at your institution.


References

  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.