Ventrilia - Genetic Panels for Cardiovascular Diseases - Comprehensive Panel 292 genes

What is the Ventrilla test?  

Ventrilla is a genetic test that detects changes in genes associated with cardiovascular diseases. The scope of the test includes detecting conditions such as: arrhythmia, aortopathy, cardiomyopathy, familial hypercholesterolemia, RASopathy, pulmonary hypertension as well as a panel dedicated to the diagnostics of congenital heart defects.  

Comprehensive panel including the analysis of 292 genes, providing a complete overview of the cardiovascular system.
 
The price of the test includes a free consultation with a clinical geneticist once your result is available. 

Who is the Ventrilla test for?  

• Symptomatic patients with suspected hereditary cardiovascular diseases.
• Asymptomatic patients with a family history of sudden cardiac death or heart disease.
• Patients with fainting episodes or seizures of unexplained origin.
• Patients with a diagnosis of channelopathies (heart rhythm disorders).
• Asymptomatic patients in high-risk groups, e.g., those with familial hypercholesterolemia.
• The test may be performed if symptoms suggestive of a genetically based cardiovascular disease occur, such as:
  shortness of breath,
  excessive sweating,
  chest pain,
  weakness.

Before deciding on the test, it is advisable to consult a clinical geneticist to select the appropriate panel and thoroughly discuss the purpose of the testing.

How can the Ventrilla test help you? 

• Enable the identification of mutations leading to the development of cardiovascular diseases.
• Differentiate diseases with various genetic backgrounds that produce similar symptoms.
• Provide guidance to support decision-making regarding invasive therapies (surgeries, pacemakers).
• Provide the opportunity to initiate treatment to halt the progression of the diagnosed condition.
• Support the implementation of preventive measures or help select the appropriate therapy.
• Allow for identifying individuals in a family at increased risk of cardiovascular diseases, enabling early diagnostics and monitoring.

How to prepare for the Ventrilla test?

No special preparation is required. You do not need to be fasting or stop taking your medication. A referral is not required.

Remember to avoid eating, drinking, chewing gum, or brushing your teeth for 60 minutes before the test.

After purchasing the test, visit the selected location during the sample collection hours to have a cheek swab taken.

You can complete the test within 3 months of purchase (calculated from the date indicated in the order confirmation).

How does the Ventrilla test work?  

• Purchase Ventrilla – select the appropriate Ventrilla panel and buy it at any Medical Center location or online. 
• Come for your oral epithelial swab during the opening hours of the sample collection point at one of our locations.  

ATTENTION! The test requires a swab from the inner cheek and does not require preparation, but it is important to follow a few rules to avoid sample disqualification.

You must not smoke, eat, drink (except water), brush your teeth, or chew gum within 30 minutes before sample collection.

• The collected material is sent for analysis to the modern, accredited Medicover Genetics laboratories in Cyprus. 
• You will receive your result within 3–5 weeks from the moment the sample arrives at the laboratory. The result will be sent to the previously provided email address.
• FREE GENETIC CONSULTATION – after receiving your test report, you can discuss the results with a clinical geneticist within 3 months. 

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

The test report will be sent to the provided email address within 3 to 5 weeks from the moment the sample reaches the laboratory.

Please note that the interpretation of genetic results depends on the patient’s complete clinical picture.  

The report will include the analysis of genetic variants obtained using next-generation sequencing (NGS) of the selected gene panel or the 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 a cardiovascular disease, 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 impact on health is not yet fully understood. The interpretation may change in the future as medical knowledge advances. Laboratories may reanalyse results and update variant classification based on the latest guidelines.
• No clinically significant variant detected
  The test did not identify any genetic changes associated with cardiovascular diseases. However, this does not completely exclude the risk — the condition may result from other genetic or environmental factors not detectable by this test.

For accurate interpretation of the results and planning further steps, a consultation with a clinical geneticist or a genetics clinic is recommended. After receiving your result, we provide a free consultation with a clinical geneticist.  

Why choose Ventrilla?  

The Ventrilla test offers genetic panels focused on cardiovascular diseases. It enables confirmation of a diagnosis, supports therapeutic decision-making (including invasive treatment options), ensures appropriate patient care, and indicates the need for screening tests among family members at increased hereditary risk. It helps differentiate conditions that present similar symptoms despite different molecular causes.

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

Technical details of the NGS test:  

• Detected mutations: SNVs (single nucleotide variants), small insertions/deletions, and copy number variations (CNVs)
• Reference genome: GRCh37
• Coding region coverage: >97% at a minimum depth of 20x
• The test uses data from databases such as: gnomAD, ExAC, ClinGen, DECIPHER, and others
• Variant classification: in accordance with ACMG guidelines
• Sensitivity and specificity for SNV detection: sensitivity 100% (range 79.4–100%), specificity 100% (range 99.8–100%) 

Where can you take the Ventrilla test?  

The Ventrilla test is available at Damian Medical Center locations. Choose a location, purchase the test, and come for sample collection at your chosen center.