High-performance DNA sequencing to identify genetically determined diseases in pediatric practice

• Main Authors: V. Yu. Voinova, E. A. Nikolaeva, N. V. Shсherbakova, M. I. Yuablonskaya
• Format: Article
• Language: Russian
• Published: Ltd. “The National Academy of Pediatric Science and Innovation” 2019-03-01
• Series: Rossijskij Vestnik Perinatologii i Pediatrii
• Subjects: children; hereditary diseases; full-excinal sequencing; new generation sequencing; interpretation of sequencing data; primary diagnosis; possible diagnosis; double diagnosis; prognostic secondary variant
• Online Access: https://www.ped-perinatology.ru/jour/article/view/829

In recent years the technology of new generation sequencing technology (NGS) has become an important diagnostic tool in pediatrics. In the genetic pediatric clinic there were analyzed the results of the use of full excome sequencing in 42 children with the retardation of mental and physical development and / or abnormalities of various organs and systems. There was established a primary genetic diagnosis in 19 patients, and thus, the effectiveness of exomic sequencing was 45%, which is slightly higher than the effectiveness of NGS given in the literature sources. The article presents clinical observations of the cases of primary, or double diagnosis, prognostic secondary variant, examples of errors in the interpretation of sequencing data. The authors emphasize the importance of studying family mutations not only among the parents, but also other relatives of the patient. In particular, in case of the identification of X-linked genetic variants, the authors justify the necessity of analysis in three family generations.