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Genetic service in a multidisciplinary specialized pediatric clinic: Personalized genetic diagnosis of hereditary diseases
https://doi.org/10.25557/2073-7998.2025.05.90-95
Abstract
Introduction. Prevention of hereditary and congenital pathologies is the main goal of institutions and departments of medical genetic services.
Aim: to optimize genetic diagnostics of hereditary diseases in a multidisciplinary children’s clinic.
Methods. Patients were hospitalized in the departments of Scientific and Practical Center of Specialized Medical Care for Children. Patients’ age was from 0-17 years. Clinical and genealogical analysis, as well as molecular genetic studies (Sanger sequencing, whole exome sequencing) were performed in patients in order to describe the clinical picture of the disease.
Results. The need for genetic testing of children with congenital and hereditary diseases was 25,3%. The diversity of hereditary diseases was established based on the results of the study and analysis. The capabilities of the genetic laboratory are shown and the use of methods of molecular genetic diagnosis in children is scientifically justified. The clinical effectiveness of whole exome sequencing was 73,3%.
Conclusion. The spectrum of identified nucleotide sequence variants in genes responsible for hereditary and congenital pathologies was analyzed as part of the implementation of the strategy for the development of molecular genetic diagnostics. Recommendations were given to doctors on the effectiveness of treatment, and individual rehabilitation programs were developed based on the obtained data and identified options.
About the Authors
T. V. Kozhanova
V.F. Voyno-Yasenetsky Scientific and Practical Center of Specialized Medical Care for Children;
N.I. Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Tatyana V. Kozhanova
38, Aviatorov st., Moscow, 119620, Russian Federation
1, Ostrovityanova st., Moscow, 117513, Russian Federation
S. S. Zhilina
V.F. Voyno-Yasenetsky Scientific and Practical Center of Specialized Medical Care for Children;
N.I. Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
38, Aviatorov st., Moscow, 119620, Russian Federation
1, Ostrovityanova st., Moscow, 117513, Russian Federation
T. I. Mescheryakova
V.F. Voyno-Yasenetsky Scientific and Practical Center of Specialized Medical Care for Children;
N.I. Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
38, Aviatorov st., Moscow, 119620, Russian Federation
1, Ostrovityanova st., Moscow, 117513, Russian Federation
A. A. Abramov
V.F. Voyno-Yasenetsky Scientific and Practical Center of Specialized Medical Care for Children
Russian Federation
Russian Federation
38, Aviatorov st., Moscow, 119620, Russian Federation
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Review
For citations:
Kozhanova T.V., Zhilina S.S., Mescheryakova T.I., Abramov A.A. Genetic service in a multidisciplinary specialized pediatric clinic: Personalized genetic diagnosis of hereditary diseases. Medical Genetics. 2025;24(5):90-95. (In Russ.) https://doi.org/10.25557/2073-7998.2025.05.90-95
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