Ventrilia - Genetic Panels for Cardiovascular Diseases - Targeted Panel

What is the Ventrilla test?  

Ventrilla is a genetic test that detects changes in genes related to cardiovascular diseases. There are 7 different panels focused on detecting conditions such as: arrhythmia, aortopathy, cardiomyopathy, familial hypercholesterolemia, RASopathy, pulmonary hypertension, and a panel dedicated to diagnosing congenital heart defects.

When collecting the sample for the test, you can choose:  

• A panel targeting aortopathy, analyzing 48 genes.  
• A panel targeting arrhythmias, analyzing 42 genes.
• A panel targeting cardiomyopathy, analyzing 98 genes.
• A panel targeting congenital heart defects, analyzing 80 genes.
• A panel targeting familial hypercholesterolemia, analyzing 11 genes.
• A panel targeting pulmonary hypertension, analyzing 11 genes.
• A panel targeting RASopathy, analyzing 30 genes.

 
The price of the test includes a free consultation with a geneticist after receiving the result. 

Who is the Ventrilla test for?  

• Symptomatic patients suspected of having hereditary cardiovascular diseases.
• Asymptomatic patients with a family history of sudden cardiac death or heart diseases.
• Patients with fainting or seizures of unknown origin.
• Patients with a diagnosis of channelopathies (heart rhythm disorders).
• Asymptomatic patients at high risk, e.g., with familial hypercholesterolemia.
• The test can be performed if symptoms suggesting genetically-based cardiovascular disease are present, such as:
• shortness of breath,
• excessive sweating,
• chest pain,
• weakness.

Before deciding to take the test, it is recommended to consult a geneticist to select the appropriate panel and thoroughly discuss the purpose of the test.

How can the Ventrilla test help you? 

• It can help identify mutations leading to cardiovascular diseases.
• Differentiating diseases with different genetic origins that present with the same symptoms.
• Provide guidance to facilitate decisions regarding invasive therapies (surgery, pacemakers).
• Allow for the initiation of treatment to halt the progression of detected diseases.
• Facilitate preventive actions or help choose appropriate therapy.
• Allow for the identification of family members at higher risk for cardiovascular diseases, enabling early diagnostics and monitoring.

How to prepare for the Ventrilla test?

The test does not require special preparation. You do not need to fast or stop taking your medications. A referral from a doctor is not required.

Remember to take a 60-minute break from eating, drinking, chewing gum, and brushing your teeth before the test.

After purchasing the test, you should visit the selected facility's sample collection point during their operating hours to collect a swab from the inner side of your cheek.

The test can be completed within 3 months from the date of purchase (counting from the date stated in the order confirmation).

How is the Ventrilla test performed? 

• Purchase Ventrilla - choose the appropriate Ventrilla panel and make a purchase at the facility or online. 
• Come to the collection point for a swab from the oral mucosa during the working hours of the sample collection point at one of our facilities.  

NOTE! The test involves collecting a swab from the inner side of the cheek and does not require preparation, but it is important to be aware of a few key points to avoid disqualifying the sample.

Do not smoke, eat, drink (except water), brush your teeth, or chew gum within 30 minutes before collecting the sample.

• The collected material will be sent for analysis to modern, accredited Medicover Genetics laboratories in Cyprus. 

• You will receive the result within 3 - 5 weeks from the moment the sample reaches the laboratory. The result will be sent to the previously specified email address.

• FREE GENETIC CONSULTATION - After receiving the test report, you can discuss the results with a geneticist within 3 months of receiving the result. 

How long will it take to get the result and how to interpret it? 

The test report will be sent to the specified email address within 3 to 5 weeks after the sample reaches the laboratory.

It is important to note that the interpretation of genetic results depends on the patient's exact clinical picture.  

The report will include an analysis of genetic variants obtained through next-generation sequencing (NGS) of the selected genetic panel or a comprehensive panel of all genes.  

Reported variant types:  

 Pathogenic or likely pathogenic variant detected
This means that the test confirmed the presence of a genetic change responsible for the development of cardiovascular diseases, such as long QT syndrome, Marfan syndrome, familial hypercholesterolemia, or Brugada syndrome. This result may indicate a hereditary nature of the disease, its molecular basis, and an increased risk of cardiovascular complications.

 Variant of uncertain clinical significance (VUS) detected
This is a genetic change whose effect on health is not yet clearly known. The interpretation may change in the future as medical knowledge develops. Laboratories may reanalyze results and update the classification of variants according to the latest guidelines.

No variant of potential clinical significance detected
No genetic changes related to cardiovascular diseases were found in the test. However, this result does not entirely rule out the risk – the disease may result from other genetic or environmental factors that are not detectable in this test.

For accurate interpretation of results and planning the next steps, it is recommended to consult a clinical geneticist or a genetic counseling center. We provide a free consultation with a clinical geneticist after receiving the results.  

Why choose Ventrilla?  

The Ventrilla test offers genetic panels focused on cardiovascular diseases. It allows confirmation of diagnosis, helps in making therapeutic decisions (including invasive treatments), provides proper care for the patient, and identifies the need for screening among family members at higher risk of inheriting the disease. It helps differentiate diseases that present similar symptoms despite having different molecular origins.

The test is performed by Medicover Genetics in Cyprus – a laboratory with many years of experience.  

Technical details about the NGS test:  

• Detected mutations: SNV (single nucleotide variants), small insertions/deletions, and copy number variations (CNV)
• Reference genome: GRCh37
• Coverage: >97% at a depth of at least 20x
• The test uses information from databases: gnomAD, ExAC, ClinGen, DECIPHER, and others
• Variant classification: according to ACMG guidelines
• Sensitivity and specificity of SNV detection: sensitivity 100% (range 79.4-100%), specificity 100% (range 99.8-100%)