Использование новых технологий диагностики для выявления наследственных болезней обмена

Application of new diagnostic technologies for early detection of hereditary metabolic diseases revealed their significant advantages (high analytical specificity and sensitivity, high bandwidth) and the appropriateness of their use in neonatal screening. Decrease of the number of false positive results, one definition of a large number of biochemical markers in a minimum quantity of biological sample made it possible to reduce the total duration of laboratory research and to ensure high performance diagnostic process. However, the lack of specificity of the markers requires to use molecular-genetic research as a supporting method of diagnosis. Speed of execution, the relative low cost, relatively simple interpretation of the obtained results of high-performance next-generation sequencing (NGS) allowed to recommend it as a the final stage of diagnosis of neonatal screening.