WHAT IS Ventrilia?
Ventrilia is a new generation genetic test that analyzes 292 genes to detect mutations that cause multiple cardiovascular conditions with complex phenotypes. By identifying genetic mutations that could cause cardiovascular diseases, Ventrilia can provide you with comprehensive genetic insight about your patient’s cardiovascular health and guide you towards an optimal clinical management plan.
Ventrilia CAN BE USED TO:
- Identify the genetic variant in symptomatic individuals with a clinically diagnosed cardiovascular condition
- Identify the genetic variant in presymptomatic individuals with a clinically diagnosed cardiovascular condition
- Identify the genetic variant in asymptomatic individuals that belong in high-risk groups
ADVANTAGES OF Ventrilia INCLUDE:
- Assessment of clinically actionable mutations
- Proven technology
- Superior targeted genomic analysis
- Easy to interpret results
- Competitive turn-around time
- Informed clinical management
- Non-Invasive sample collection
CARDIOVASCULAR DISEASE PANELS
Ventrilia tests for autosomal recessive, autosomal dominant, and X-linked cardiovascular diseases.
-
AORTOPATHY
48
-
ARRHYTHMIA
42
-
CARDIOMYOPATHY
98
-
CONGENITAL HEART DEFECTS (CHD)
80
-
FAMILIAL HYPERCHOLESTEROLEMIA (FH)
11
-
PULMONARY HYPERTENSION (PH)
11
-
RASOPATHIES
30
-
COMPREHENSIVE
292
ARRHYTHMIA PANEL
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
Number Of Genes Tested
42
CARDIOMYOPATHY PANEL
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
Number Of Genes Tested
98
CONGENITAL HEART DEFECTS (CHD) PANEL
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.
Number Of Genes Tested
80
RASOPATHIES PANEL
RASopathies are a group of genetic conditions that affect 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
Number Of Genes Tested
30
AORTOPATHY PANEL
Aortopathy refers to a group of diseases that affect 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.
Number Of Genes Tested
48
FAMILIAL HYPERCHOLESTEROLEMIA (FH) PANEL
Familial Hypercholesterolemia is a common inherited genetic disorder that causes high levels of LDL and could lead to heart disease and heart attacks, if untreated.
Number Of Genes Tested
11
PULMONARY HYPERTENSION (PH) PANEL
Pulmonary Hypertension refers to the high blood pressure in the arteries of the lungs and the right side of the heart.
Number Of Genes Tested
11
COMPREHENSIVE PANEL
The comprehensive panel includes all 292 genes tested in the disease panels.
Number Of Genes Tested
292
For a complete list of 292 genes tested by Ventrilia, please click here.
WHY RECOMMEND Ventrilia TO MY PATIENTS?
Cardiovascular diseases 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. 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†.
Cardiovascular genetic testing is highly recommended by professional societies such as the American College of Cardiology (ACC), American Heart Association (AHA), and the European Society of Cardiology (ESC).
* 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)
WHAT IS THE ROLE OF CARDIOVASCULAR GENETIC TESTING?
IDENTIFY
- Genetic mutations involved in cardiovascular conditions
- Complex cardiovascular diseases
- The correct disease by differentiating between diseases with similar phenotype
EVALUATE
- Patient's level of risk
- Treatment options
- At-risk family members
MANAGE
- Clinical care
- Decision-making before an invasive treatment
- Specific therapies and predict their response
WHO IS Ventrilia FOR?
Symptomatic patients with an unidentified cardiovascular genetic disorder
Presymptomatic patients with family history of inherited cardiovascular disease or sudden cardiac death
Patients experiencing fainting or unexplained seizures
Patients with clinical diagnosis of aortic defect, or irregular cardiovascular anatomy
Patients with clinical diagnosis of channelopathies (irregular heart rhythm)
Patients suspected of having a cardiovascular-associated genetic condition due to clinical symptoms (shortness of breath, excessive sweating, heart pain, weakness)
Patients in high-risk groups (eg. high cholesterol) with non-specific phenotype
TECHNOLOGY YOU TRUST
Ventrilia uses a targeted genomic analysis and a robust, validated multiengine analysis platform to screen for clinically actionable, highly penetrant gene mutations with high sensitivity and specificity.
TARGETED TECHNOLOGY
Ventrilia is based on a novel, target capture enrichment technology that has been thoroughly validated for its accuracy and precision.
FULL COVERAGE
Ventrilia screens for all coding regions on the genes of interest, increasing the chances of identifying any pathogenic or likely pathogenic mutations: single nucleotide variants, small insertions and deletions, and copy number variants.
NOVEL BIOINFORMATICS
Innovative bioinformatics pipelines analyze the sequencing data produced from each sample, increasing the sensitivity and specificity of Ventrilia.
WHAT WILL THE REPORT TELL ME?
- Result on mutations tested
- Thorough interpretation and clinical significance of variants
Carrier status will not be reported for recessive conditions. Re-interpretation of variants of uncertain significance will be performed at routine intervals.
HOW DOES Ventrilia HELP ME?
Overlapping symptoms make it very challenging to clearly identify the underlying cardiovascular condition. There are many types of congenital cardiovascular diseases, ranging from simple to complex defects with severe, life-threatening symptoms.
Ventrilia can detect mutations that cause cardiovascular diseases and help you choose an ideal treatment based on the specific mutation, develop a better clinical management plan and reduce your patient's risk of sudden cardiovascular events such as stroke or heart attack.
For high-risk, asymptomatic individuals with a cardiovascular genetic mutation, you can recommend appropriate examinations at key time intervals. Additionally, you can inform any family members who might also have the same genetic mutation. Early intervention can potentially be lifesaving for symptomatic, presymptomatic and asymptomatic individuals.
WHAT ARE THE BENEFITS OF Ventrilia FOR MY PATIENTS?
- Faster identification of complex cardiovascular conditions
- Accurate detection of multiple cardiovascular genetic mutations
- Early identification in asymptomatic patients
- Improved prognosis
- More effective treatment
- Better clinical care
- Prevention of potential sudden onset of cardiovascular conditions, including sudden death in all patients