Rare diseases


Rare diseases

Genetic tests

By genetic test we mean the analysis of DNA, RNA, chromosomes, metabolites and other gene products, carried out to highlight alterations related to hereditary diseases.

This definition includes prenatal, neonatal and healthy carrier screenings as well as testing of at-risk families.

The results of genetic tests can be applied to the diagnosis and prognosis of hereditary diseases, disease risk prediction, identification of healthy carriers, phenotype  (clinical manifestations of the disease) - genotype (genetic characteristics of an individual) correlation. To date, more than 1000 genetic tests are available. Tests carried out only for research purposes are excluded from this definition.