WHAT IS VENTRILIA CARDIO GENETICS SCREENING?
Ventrilia is a new generation genetic test that screens for hereditary cardiovascular syndromes and diseases in individuals.
Ventrilia identifies numerous genetic changes (mutations) that cause multiple cardiovascular conditions with complex symptoms. Early identification of an underlying cardiovascular condition allows for timely intervention and can guide towards more effective treatment and management.
WHAT DOES Ventrilia TEST FOR?
Ventrilia is available as seven disease-specific panels and one comprehensive panel, which includes all genes tested in the disease-specific panels.
- AORTOPATHY: A group of diseases that affect the aorta, causing enlargement, dissection or aortic aneurysm
- ARRHYTHMIA: Conditions causing irregular, too fast, or too slow heartbeat due to improper electric impulses that coordinate the heartbeat
- CARDIOMYOPATHY: A group of diseases of the heart muscle (myocardium) that reduce the efficiency of the heart to pump blood
- CONGENITAL HEART DEFECTS (CHD): Defects that are present from birth and affect the heart’s structure and effciency to function
- FAMILIAL HYPERCHOLESTEROLEMIA (FH): Common inherited genetic disorder that causes high levels of LDL cholesterol and could lead to heart disease and heart attacks, if left untreated
- PULMONARY HYPERTENSION (PH): High blood pressure in the arteries of the lungs and the right side of the heart
- RASOPATHIES: A group of genetic conditions that affect the RAS-MAPK pathways and lead to developmental syndromes
HEREDITARY CARDIOVASCULAR DISEASES
Various cardiovascular diseases are inherited as they are the result of a genetic mutation. Most genetic mutations causing cardiovascular conditions are passed down in an autosomal dominant pattern. Autosomal dominant pattern means that inheriting only one copy of a mutated gene from one biological parent can cause a disease. Therefore, there is a 50% chance of a child inheriting the same cardiovascular condition as the affected parent.
When a close family member is diagnosed with a hereditary cardiovascular disease, other family members should have genetic testing for earlier identification of the same genetic mutation.
SYMPTOMS OF HEREDITARY CARDIOVASCULAR DISEASES
Symptoms of hereditary cardiovascular diseases vary amongst affected individuals, with some experiencing mild to no symptoms, whereas others experience symptoms like:
- Dizziness
- Heart palpitations
- Fainting
- Shortness of breath
- Fatigue
- Chest pain
HOW IS Ventrilia ADMINISTERED?
A sample is taken using a buccal swab
Your sample is then sent to NIPD Genetics for testing and results can take between 2-4 weeks from sample receipt