The results of the use of molecular genetic technologу for the diagnosis of tuberous sclerosis

Abstract

A comprehensive molecular genetic examination of patients with diagnosis of tuberous sclerosis was carried out. The complex includes NGS with deep sequencing for detecting point mutations and indels, MLPA for identification of extended deletions, and Sanger sequencing. Mutations was found in 96,5% cases from 202 samples. Point mutation and indels were found in 93,3% cases, extended deletions were found in 6,7%. Mutations with low allelic representation were found in 5,9%.