Cardiovascular diseases are the leading cause of death in the world and yet are often the most easily preventable. Genetic tests can help to evaluate the risk of suffering any of these diseases to start acting as soon as possible. For example, families with familial hypercholesterolemia have an increased risk of suffering coronary illnesses. However, if it is identified and treated early, mortality is reduced by 80%.
In addition, there is a large number of heart conditions that go unnoticed throughout life and that are difficult to diagnose until a serious phenomenon occurs. However, genetic tests can identify disease-causing mutations, helping a faster and more accurate diagnosis.
It is estimated that 1 in every 200 births presents a congenital heart problem, which can be isolated or be part of a more complex syndrome or disease, so our genetic tests can be useful in both children and adults.
Types of genetic tests in cardiology
1. GENETIC TESTS OF ARRHYTHMIAS AND CARDIOMYOPATHIES
Arrhythmias and cardiomyopathies may occur as an isolated pathology or as a feature of other hereditary disorders (Noonan syndrome, Marfan syndrome, DiGeorge syndrome, Williams syndrome, Friedreich’s ataxia, Danon disease, Fabry disease, mitochondrial myopathy or muscular dystrophy among others).
A genetic test can identify the cause of the heart problem and in turn make a genetic diagnosis of the disease.
2. SCREENING FOR FAMILIAL HYPERCHOLESTEROLEMIA
There are about 2,000 gene variants involved in familial hypercholesterolemia. A genetic study will tell you if you have a higher risk of suffering from this disease and will also provide information to other family members who may have inherited the same gene variant.
At CONGEN we are continually updating our products and offer new services once there is clinical evidence of their usefulness. Ask us about new advances and developments.
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