Relevance: Now in the world there are more than 800 hereditary diseases. In the absence of medical intervention they result in early disability and a lethal outcome. Purpose: To analyse the realized complex of the practical actions directed to prevention of disabling consequences of patients with fenilketonuriy (FKU), the congenital hypothyroidism (CH), a mucoviscidosis (MV), an adrenogenital syndrome (AGS) and a galactosemia (GAL) within neonatal screening in the Republic of Bashkortostan from the moment of introduction. Materials and methods: Materials of the laboratories which were carrying out the neonatal screening (NS) in the Republic of Bashkortostan during the period from 2010 to 2022 were analysed. In work statistical and analytical methods of researches were applied. Results: 62 structural divisions of the medical organizations of an obstetric profile which are carrying out an intake of biological material are involved in carrying out NANOSECOND in the Republic of Bashkortostan for January 01, 2023. During the period from 2010 to 2022 in the Republic of Bashkortostan 650098 newborns were examined, the coverage neonatal screening averaged 99.7% of children. Discussion: The analysis of results of neonatal genetic screening in the Republic of Bashkortostan allows to carry out further studying of an etiopathogenesis, prevalence of the revealed hereditary diseases and to modify their treatment for the purpose of decline in mortality and disability at children. From 2010 to 2022 the detectability of congenital diseases on NANOSECOND in the Republic of Bashkortostan aspires to 100%. The most often met disease is the congenital hypothyroidism. The occurrence of a fenilketonuriya and mucoviscidosis is lower than the average Russian indicators, an adrenogenital syndrome is comparable to the average Russian indicators. 31 year later from the beginning of neonatal screening in structure of the Republican medicogenetic center the Center of orphan diseases was created. Work of the Center is conducted in close interaction with the medical organizations and the chief non-staff specialists of the Ministry of Health for diagnostics, treatment, prevention, rehabilitation, routing of patients with rare diseases and maintaining registration and reporting documentation. Conclusions: 1. Mass by NANOSECOND from 2010 to 2022 it was carried out on 5 hereditary diseases. The coverage neonatal screening in the Republic of Bashkortostan was 99.7%. 2. In the Republic of Bashkortostan the frequency of occurrence of a congenital hypothyroidism and adrenogenital syndrome are comparable to the average Russian indicators while the frequency of occurrence of a galactosemia, a mucoviscidosis and a fenilketonuriya is lower than the average Russian indicators. 3. Neonatal screening allows to establish the exact diagnosis before manifestation of the first symptoms and, is extremely important for successful treatment and prevention of irreversible complications, and lethal outcomes at children, reduction of an invalidism. 4. Opening of the Center of orphan diseases became result of neonatal screening.