Evaluation of the effectiveness of next generation sequencing in the clinical practice of the medical genetic consultation in Khanty-Mansi region

Abstract

Background. NGS-based exome sequencing, accepted as an outsourced service since 2016, is increasingly being used in the routine clinical practice of our medical genetic counseling centre. Evaluation of the diagnostic capabilities of exome sequencing is necessary to substantiate the effectiveness of NGS in situ in regional clinical settings. Aim: to evaluate the effectiveness of diagnosing genetic diseases in children in Khanty-Mansi region using exome sequencing. Methods. Exome sequencing by NGS, validation of NGS data by Sanger sequencing, family segregation analysis by Sanger sequencing. Results. Molecular diagnoses were reported in 27% (27/100) of children, in line with data published elsewhere. The diagnoses were more often diagnosed in persons with anomalies of the nervous, skeletal and respiratory systems. Predominantly autosomal dominant diseases were identified, among which the most common were neurofibromatosis, osteogenesis imperfecta, achondroplasia. Family segregation revealed 5 new variants in the TSC1, KAT6A, ANKRD26, ARID1B, RPGRIP1 genes.