Screening tests

Screening tests for genetic predisposition to cancer and heart disease.


The Genetics lab offers various gene panel screening tests to determine your susceptibility to various cancers and cardiovascular diseases. The tests usually require venous blood or buccal samples, from which genome DNA is isolated and then analysed by next-generation sequencing (NGS). The genetic analysis itself looks to find DNA changes called variants. Results take about four weeks.

DNA testing for cancer predisposition

Approximately 5% to 10% of all malignancies are part of hereditary cancer syndromes. In addition, in 10% to 30% of cases, patients have a close relative who has been diagnosed with cancer, which indicates familial risk even though a specific genetic link is not always identified. In the remaining 60% to 85% of cases, the so-called sporadic cancer is observed, where the disease cannot be linked to hereditary factors or complex interactions between multiple genetic and non-genetic factors.


In hereditary cancers, the family’s increased risk of malignant disease is passed on through genes. Recent decades have seen tremendous advances in understanding the genetic component in the origins of cancer, and numerous cancer-related genes have been identified.

The cancer gene panel analyses more than 60 genes related to hereditary cancers:

Benefits of the cancer screening tests

With early detection, these cancers can be successfully treated and/or patients can benefit from effective prevention to reduce risks. If you have a mutation in one of those genes, your risk to develop some forms of cancer is significantly higher than the rest of the population.

Prophylaxis can be planned according to genetic status, which will allow the early diagnosis of potential malignant disease, giving a better prognosis and more treatment options as a whole.

In some cases, preventive surgery can be considered to minimise the risk of developing cancer.

Some medications, taken as prophylaxis, can decrease cancer risk.

If you have a gene variant associated with high cancer risk, your close relatives can have up to a 50 % risk to be carriers of the same gene variant. This will allow them to undergo directed testing if they wish to have their personal cancer risk precisely determined.

DNA tesing for heart disease predisposition

The test panel gives you a chance to know more about your DNA and how your genes could potentially affect your health.

About 16% of healthy persons of active age have a serious genetically determined high risk of disease. In approximately 7% of positive test results, gene variants are found that are associated with an increased risk of cardiovascular disease (CVD) or cancer. In addition, the remaining 8.9% of positive results are linked to an increased risk of other serious diseases.


NB! The test panels are specifically focused on detecting susceptibility to diseases for which effective prophylaxis or treatment exists.

The test panel includes 75 genes associated with hereditary cardiovascular disease:

Benefits of the heart disease screening tests

Prophylaxis can be planned according to genetic status.

Early diagnosis of CVD, with better prognosis and treatment options.

If you have a gene variant associated with high CVD risk, your close relatives can have up to a 50 % risk to be carriers of the same gene variant. This will allow them to undergo directed testing if they wish to have their personal CVD risk precisely determined.

Gene panel screening test limitations

This test may or may not aid medical professionals in better understanding your health risks and treatment options.

This screening panel may not discover some types of DNA variants that could cause specific genetic diseases.

Whenever possible, it is recommended that affected family members are tested first.

As with all molecular genetic tests, the analysis has certain technical limitations, which could hamper the detection of rare gene variants, or return unprecise results due to any of the following: poor quality DNA sample, rare lab technical errors, incorrectly reported familial relations or clinical diagnosis, other technological limitations.

Some cases may require additional information for interpreting the results, from further genetic tests or testing other family members.

Although seldomly, the test panel may identify other gene variants that are not associated with the current clinical diagnosis for which the test was indicated but could negatively impact your health in the future. Such variants are known as incidental findings.

If several family members are simultaneously tested, the gene panel may reveal that family links differ from what was declared. For example, the test results may indicate that the declared father of a person is not their biological parent. Such findings will be reported only in case they are needed for the correct interpretation of the test results.

See also

Preimplantation genetic testing (PGT)
Prenatal genetic diagnosis
Genetic tests for infertility
Other diagnostic and screening tests