New molecular-genetic technologies in differential diagnostics of orfan diseases in children

Abstract

The article discusses the diagnostic strategy of search and application of modern methods of molecular genetics in the diagnosis of hereditary diseases. The approach of molecular genetic diagnosis using NGS technology (new-generation sequencing). At the clinical example of the patient with Lois-Dietz syndrome, type 2 is shown the significance for diagnosis method of target sequencing of DNA sites relating to the coding areas of the genes associated with contractural arachnodactyly, Marfan’s syndrome and other hereditary diseases with similar phenotypical manifestations.