Rare diseases

Genetic tests

Genetic testing is conducted on any or all genetic components including DNA, RNA, chromosomes, metabolites and other gene products, carried out to highlight changes related to genetic disorder.

This definition includes prenatal, neonatal and healthy carrier screenings, as well as tests on families at risk.

The results of genetic tests can be applied to the diagnosis and prognosis of hereditary diseases, to the prediction of the risk of disease, to the identification of healthy carriers, to the phenotype (clinical manifestations of the disease) - genotype (genetic characteristics of an individual) correlations.

To date, more than 1000 genetic tests are available. Tests for research purposes are excluded from this definition.