Genomics testing and its applications in personalized pediatric services (mtDNA)

Abstract

The confirmation or exclusion of mitochondrial diseases remains a challenge in clinical practice, especially for pediatric cases, which show enormous variation in clinical presentations. Demonstrative examples are infant myopathies. Different manifestations of congenital myopathy may mask mtDNA alterations. Of times mitochondrial disorders are not suspected and manifest unexpectedly. In this regard, molecular mtDNA testing is getting increasingly important as a stage of diagnostics. In the speech, the results of mitochondrial DNA sequencing in the group of unrelated patients with mitochondrial encephalomyopathy diagnosed are presented. Significance of individual genetic particularities is evaluated through example of several patients with different ethnical background. In spite of not revealing confirmed pathogenic variants, we found several individual particularities of mitochondrial DNA, which may have clinical significance, in each patient. Through these examples modern approaches of personalized diagnostics are considered. In addition, robust relationship between laboratory and post-laboratory methodics in molecular genetic analysis are demonstrated.