Three types of tests have been developed in the capital to assess the risk of having a child with hereditary diseases. This was announced by the head of the department of investment and industrial policy of Moscow Vladislav Ovchinsky.
So, thanks to one of the tests, it is possible to identify mutations in the genes responsible for monogenic diseases at the stage of pregnancy planning. The study is performed by PCR and can be used for mass screening using automation.
Another test allows in the first months of pregnancy to assess the risks of aneuploidy and chromosomal abnormalities in the fetus. It is a non-invasive method for prenatal screening for aneuploidy based on the analysis of fetal extracellular DNA in maternal blood.
A set of reagents has also been developed to detect the most common genetic diseases in newborns: spinal muscular atrophy and primary immunodeficiencies. The study is carried out using dry spots of capillary blood plotted on neonatal screening cards using real-time PCR.
The tests have been put into production, the planned output is over 20,000 units annually. They will be delivered to pharmacies and medical facilities across the country, Ovchinsky stressed.
The developer is the metropolitan company DNA-Technology, one of the largest Russian manufacturers of equipment and reagents for PCR laboratories. According to its CEO Vladimir Kolin, “all research is in full compliance with Russian and international standards.” “Innovative PCR and NGS diagnostic methods will make it possible to qualitatively transform the prevention of genetic diseases in newborns,” he added.
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