INSTITUTE
OF GENETICS & CYTOLOGY

National Academy of Sciences of Belarus

Molecular genetic testing for the carriage of a mutation detected in a relative with a hereditary cardiovascular disease (cardiomyopathy, channelopathy and thoracic aortic aneurysm)

Hereditary cardiovascular diseases are a serious problem in our modern world. These diseases affect the structure and function of heart and blood vessels.

They are of different types:

  • Cardiomyopathy (hypertrophic, dilated, arrhythmogenic, non-compaction and restrictive);
  • Channelopathies (long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia etc.);
  • Syndromes associated with a thoracic aortic aneurysm (Marfan syndrome, Louis-Dietz syndrome, Ehlers-Danlos syndrome, arterial tortuosity syndrome etc.).

These diseases are most often passed on by way of autosomal dominant inheritance, which means that the risk of passing the disease on to children is 50%.

Each of these diseases has its own characteristics, but what they have in common is that they can manifest themselves at any age and cause sudden cardiac death, which is sometimes the first and only symptom.

At the Institute of Genetics and Cytology, molecular genetic testing for the carriage of a mutation found in a relative is performed using the Sanger automated sequencing method.

Genetic testing is recommended for first- and second-degree relatives of a patient with a confirmed diagnosis of cardiomyopathy, channelopathy or thoracic aortic aneurysm where a patient is found to have a pathogenic or likely pathogenic mutation in a gene associated with the disease.

Where the mutation is found in a person, even in the absence of clinical manifestations, he or she should undergo regular medical examination to spot any changes in the work of heart on time. In this case, it is also important to lead a healthy lifestyle, avoid heavy physical exertion, monitor nutrition etc. not to provoke the disease development.

Full service fee:

127,00 BYN

Please contact us to book an appointment:

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We are waiting for you at the following address: 27 Akademicheskaya St., Room 119, Minsk