What is Cardio Genetics Testing?
Helping Pharma companies develop Precision medicine using Clinical Data & AI.
What is Cardio Genetics Testing?
Cardiovascular diseases (CVDs) remain one of the leading causes of morbidity and mortality worldwide, with genetics being a major risk factor. CVDs can arise from monogenic inherited patterns (autosomal dominant, recessive, or X-linked) or polygenic inheritance, where common genetic variants predispose individuals. GeneHealth’s testing enables precision medicine by tailoring prevention and treatment based on this genetic risk alongside lifestyle and clinical data.
Book a Test Now →Common Inherited Monogenic Heart Diseases
| Conditions | Details | Examples |
|---|---|---|
| Cardiomyopathies | Diseases of the heart muscle characterized by the muscle becoming enlarged, abnormally thick, or rigid. This may result in shortness of breath, arrhythmias, or sudden death. | Hypertrophic cardiomyopathy (HCM), Arrhythmogenic right ventricular dysplasia (ARVD), Dilated cardiomyopathy (DCM), Left ventricular non-compaction (LVNC), Restrictive cardiomyopathy (RCM). |
| Inherited Arrhythmia | Develops as a result of mutations in genes encoding ion channel proteins, involved in cardiac conduction, impairing channel function. Significant variants contribute to increased risk of ventricular arrhythmia and sudden death. | Brugada syndrome (BS), Timothy syndrome (TS), Long QT syndrome (LQTS), Short QT syndrome (SQTS), Atrial fibrillation (AF), Catecholaminergic polymorphic ventricular tachycardia (CPVT). |
| Hypercholesterolemia & Dyslipidemia | Caused by genetic variants in lipid metabolism genes resulting in high levels of LDL cholesterol. Deposition in the arteries leads to atherosclerosis and increased risk for coronary heart disease. | Familial hypercholesterolemia (FH), Dysbetalipoproteinemia, Lysosomal acid lipase deficiency, Familial chylomicronemia syndrome, Sitosterolemia. |
| Aortopathy & Congenital Heart Disease | Aneurysms involving the aortic root and/or ascending aorta without concomitant aortic valve disease. Usually progressive and the individual may be asymptomatic, diagnosed during imaging studies. | Familial thoracic aortic aneurysms and dissections, Loeys-Dietz syndrome, Marfan syndrome, Ehlers-Danlos syndrome. |
Indications for Testing
- Cardiac arrest or sudden deaths in the family of unknown etiology.
- Enlarged heart or aorta, or aortic aneurysm in the chest at less than 55 years of age.
- Heart attack/stroke at less than 55 years of age.
- Unexplained irregular heartbeat (arrhythmia).
- Very high cholesterol levels.
- Pulmonary hypertension.
- Family history with symptoms of heart ailments.
Assay Specifications
Key Highlights of GeneHealth’s Cardio Genetics
Ensures highly reliable and clinically actionable results of genetic testing for a multitude of inherited heart diseases.
Covers a wide range of genes intricately associated with heart conditions through a comprehensive and targeted gene panel.
This genetic testing utilizes robust technologies including NGS, MLPA, and Fragment Analysis to perform precise genomic profiling.
