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.
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.
Cardiomyopathies and arrhythmias
• 105 genes associated with hereditary cardiomyopathies and arrhythmias.
• 44 genes associated with hereditary arrhythmias.
• 83 genes associated with hereditary cardiomyopathies.
• 18 genes associated with arrhythmogenic cardiomyopathy.
• 7 genes associated with catecholaminergic polymorphic ventricular tachycardia.
• 63 genes associated with dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy.
• 48 genes associated with hypertrophic cardiomyopathy.
• 10 genes associated with long QT syndrome.
• 20 genes associated with Noonan syndrome and related conditions.
• 4 genes associated with short QT syndrome.
• SCN5A gene associated with Brugada syndrome.
Connective tissue and vascular fragility disorders
• 48 genes associated with Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndromes, and related aortopathies.
• 30 genes associated with stroke and cerebrovascular fragility.
• 22 genes associated with Ehlers-Danlos syndromes.
• 12 genes associated with hereditary hemorrhagic telangiectasia and vascular malformations.
• FBN1 gene associated with Marfan syndrome and other fibrillinopathies.
• 30 genes associated with Marfan syndrome, Loeys-Dietz syndrome, and related aortopathies.
• 25 genes associated with osteogenesis imperfecta and other hereditary bone fragility conditions.
• 12 genes associated with hereditary low-density lipoprotein (LDL) hypercholesterolemia.
• 5 genes associated with hereditary hypobetalipoproteinemia.
• 13 genes associated with hereditary hypertriglyceridemia.
LIPOG | Lipodystrophy Gene Panel, Varies
• 12 genes associated with hereditary lipodystrophies.
Additional cardiovascular genetic testing
• 44 genes associated with congenital heart disease.
• PRKAR1A gene associated with Carney complex.
Genetic testing for inherited cardiovascular disorders
In this "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.