Genetic test to determine predisposition to inherited cardiovascular diseases, ways to prevent and establish effective therapy.
Cardiovascular diseases are the leading cause of death worldwide. Some cardiac illnesses are due to mutations in certain genes controlling every aspect of the cardiovascular system – from the strength of blood vessels to the communication of heart muscle cells. Genetic variations in these vital genes may affect the likelihood of developing a cardiovascular disease. A large proportion of cardiac diseases in males under age 55 and females under age 65 can be inherited in the family.
A number of cardiovascular conditions result from mutations in one or several genes. Examples are:
- High cholesterollevels
- Coronary artery disease
- Familial amyloidosis
- Marfan Syndrome
NGCardiology is based on target sequencing with TruSightCardio Panel (Illumina) by massive parallel sequencing (NGS). The test differs from some of our other genetic products, offering parallel analysis of 174 genes instead of one or more. The selected genes are suspected to play a key role in predisposing to monogenic cardiovascular diseases. The results are analyzed by using massive international data bases.
The test is highly informative and can be used to prevent the development or progression of existing cardiovascular diseases as well as to clarify the risks, allowing opportunity for prevention and early diagnosis among the youngest family members.
NGCardiology is followed by thorough genetic consultation and detailed summary aimed at clarifying the customer’s information, discussing the results and redirecting the client to the appropriate specialist if needed.
The aim of NGCardiologyis to become part of our portfolio to offer general detailed care to our patients. We believe it is our mission to help prevent serious diseases or improve the quality of life when an illness is already present.
The genetic testing requires DNA isolation from blood.
Venous blood collection should be performed with the use of closed vacuum blood collection system, following standard sterile procedures in convenient clinical laboratory for the client and transported at room temperature to our partner genetic laboratory. The blood should be collected in EDTA vacuum tubes (Ethylene DiamineTetraacetic A) which you will find in the test order kit. The sample volume should be no less than 4 ml.
The results will be completed within 4 to 8 weeks from the date of sample submission. You will receive an e-mail informing you of the way you can access them. The cost of the test includes consultation with genetics practitioner trained in interpreting the results to help you understand your genetic predisposition to cardiovascular diseases. Our specialists will outline specific steps to prevent illness development or facilitate the treatment process.
The risk that exists in the presence of mutations in genes associated with cardiovascular diseases remains throughout the individual’s life. Therefore, the information that you receive is not temporary and applies permanently until the rest of your life. However, in most cases, the risk increases with age. The genetic test cannot predict the exact moment in which the disease will develop but gives enough information about the risk.
The benefits of testing for hereditary cardiovascular diseases are:
- Determining the risk of developing cardiovascular disease
- Taking appropriate steps to reduce the risk
- Predicting which family members are at risk and should be tested
- Monitoring family members with family history of hereditary cardiovascular diseases
- Identifying the cause of cardiac disease in families
- Providing family planning opportunities to avoid disease transmission to the offspring
- Clarifying the diagnosis
- Finding a suitable specialist
- Enabling rapid treatment start and appropriate therapy
- Changing current treatment if necessary
We recommend performing the test in cases of:
- Unexplained cardiac arrest or sudden death in the family that may be caused by undiagnosed cardiovascular disease
- Unexplained seizures associated with physical or emotional stress
- Unexplained seizures or seizures with normal neurological assessment
- Need for a pacemaker before the age of 50
- Heart failure before the age of 60
- Heart hypertrophy
- Cardiac arrhythmia
- Heart attack, coronary artery disease or stroke at an early age (men under age 55, women under age 65)
- Extended aortic root or aortic aneurysm before age 55
- Sudden Infant Death Syndrome (SIDS) in the family
- High cholesterol levels
- Congenital heart defect
- More than one relative with the same type of cardiac disease
- Wish to establishthe causes for a cardiovascular condition
- Concerns about the transmission of cardiac disease to other family members
NGCardiology targets 174 genes, previously linked to predisposition towards 17 different cardiovascular diseases. The panel includes genes associated with the most common hereditary cardiac illnesses. Content selection is based on expert curation of the scientific literature and other high-quality resources.
Databases used for results interpretation:
- HumanGeneMutationDatabase(HGMD) (http://www.hgmd.cf.ac.uk/ac/index.php)
- ShortGeneticVariationsdatabase (dbSNP) (http://www.ncbi.nlm.nih.gov/projects/SNP/)
- OMIM (http://www.ncbi.nlm.nih.gov/omim)
- NHLBI ExomeSequencing Project (ESP) ExomeVariant Server (http://evs.gs.washington.edu/EVS/)
- ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/)
International Standards and Guidelines for the interpretation and reporting of sequence variants:
- Pathogenic variants – mutations that lead to disease and are associated with particular disease phenotype
- Likely pathogenic variants – data in favor of pathogenic effect of the variations
- Variants of Unknown Significance – controversial pathogenicity data or insufficient data at the time of the study
- Likely benign variants – evidence against the pathogenic nature of the variants
- Variants with clinical association – behavior of variants based on the individual or family history of the disease
Upon request of 3 or 4 genetic tests for the same person, you have the opportunity to get 20% discount on the price. The condition of discount is related to the technological process in genetic testing – part of the process is done only once, instead of several times. If you would like to take advantage of this option, please contact us before ordering.
Family Package – when ordering a minimum of 3 tests for three separate family members, you have the option of 10% discount. If you would like to take advantage of this option, please contact us before ordering
Please call us on +359 888 842 200 to find out more about our leasing options