Ventrilia Hereditary Cardiac Genetic Test

Ventrilia is a cardiac genetic test based on a DIY buccal swab (cheek swab) test that analyses up to 292 genes to detect mutations that can cause multiple inherited cardiovascular conditions.

Conditions tested include aortopathy, arrhythmia, cardiomyopathy, thrombophilia, and genetic forms of high blood pressure (hypertension) and high cholesterol (hypercholesterolaemia).

Click here to see the full list of genes covered!

It can be used to identify genetic mutations associated with cardiac and cardiovascular diseases in:
• symptomatic individuals with a clinically diagnosed cardiovascular condition
• presymptomatic individuals with a clinically diagnosed cardiovascular condition
• asymptomatic individuals that belong in high-risk groups or strong family history

Cardiac and cardiovascular disease and death

Cardiovascular disease and cardiac disease are the leading cause of illness and death worldwide, responsible for 31% of all global deaths*. Previously, assessment of the disease risk was based on the lifestyle of an individual. The role of genetic testing is now becoming increasingly important, as overlapping symptoms make it very challenging to clearly identify the underlying cardiovascular condition. Genetic testing can detect the underlying condition, provide a prognosis and identify at-risk family members, who might be predisposed to the same cardiovascular disease. Identification of a genetic mutation that causes a disease, can lead to an improved prognosis as well as effective clinical management and treatment for many cardiovascular conditions†.

*World Health Organization (Cardiovascular Diseases fact sheets and World Heart Federation (2017)
†Clinical Appropriateness Guidelines – Genetic Testing for Hereditary Cardiac Disease – developed by Informed Medical Decisions, Inc.(2019)

Ventrilia can help for:
• Faster identification of complex cardiovascular and cardiac conditions
• Accurate detection of multiple cardiovascular genetic mutations
• Early identification in asymptomatic patients
• Improved prognostic assessment

What will the cardiac or cardiovascular genetic  test look for?

Cardiac and Cardiovascular Disease Panels

Ventrilia tests for autosomal recessive, autosomal dominant, and X-linked cardiovascular diseases

 AORTOPATHY PANEL – (48 Genes)

Aortopathy refers to a group of diseases that a­ect the aorta, causing enlargement, dissection or aortic aneurysm. Aortopathy related diseases include: Marfan Syndrome, Ehlers-Danlos Syndrome, Loeys-Dietz Syndrome, Familial Thoracic Aortic Aneurysms and Dissections, Bicuspid Aortic Valve Disease

ARRYTHMIA PANEL (42 Genes)

Arrhythmia refers to irregular, too fast, or too slow heartbeat caused by the improper working of the electrical impulses that coordinate the heartbeat. Arrhythmia related diseases include: Atrial Fibrillation, Brugada Syndrome, Catecholaminergic Polymorphic Ventricular Tachycardia, Long QT Syndrome, Short QT Syndrome

CARDIOMYOPATHY PANEL (98 Genes)

Cardiomyopathy is a group of diseases of the heart muscle (myocardium) which reduces the efficiency of the heart to pump blood. Cardiomyopathy related diseases include: Arrhythmogenic Cardiomyopathy, Arrhythmogenic Right Ventricular Cardiomyopathy, Cardiomyopathy with onset in neonatal period, infancy or childhood, Dilated Cardiomyopathy, Hypertrophic Cardiomyopathy, Left Ventricular Non-Compaction Cardiomyopathy, Restrictive Cardiomyopathy

CONGENITAL HEART DEFECTS PANEL (80 Genes)

Congenital heart defects are present from birth and aff­ect the heart’s structure and efficiency to function. CHD related diseases include: Atrioventricular Septal defect, Atrial Septal defect, Ventricular Septal defect, Aortic Stenosis, Tetralogy of Fallot

FAMILIA HYPERCHOLESTEROLAEMIA PANEL (11 Genes)

Familial Hypercholesterolemia is a common inherited genetic disorder that causes high levels of LDL cholesterol and could lead to heart disease and heart attacks, if untreated.

PULMONARY HYPERTENSION PANEL (11 Genes)

Pulmonary Hypertension refers to the high blood pressure in the arteries of the lungs and the right side of the heart.

RASOPATHY PANEL (30 Genes)

Rasopathied are a group of genetic conditions that a­ect the RAS-MAPK pathways and lead to developmental syndromes. RASopathies related diseases include: Cardio-Facio-Cutaneous Syndrome, Costello Syndrome, Legius Syndrome, Neurofibromatosis Type 1, Noonan Syndrome, Noonan with multiple lentigines

COMPREHENSIVE PANEL (292 Genes)

The comprehensive panel includes all 292 genes tested in the individual panels.

When will I get results?

Reporting time 4 weeks based on a home DIY saliva test.