hrp0084fc3.2 | Diabetes | ESPE2015

Experience with Molecular Diagnosis in 48 Cases of Neonatal Diabetes Mellitus Using Targeted Next-Generation Sequencing

Tikhonvich Yulia , Vasilyev Evgeny , Petrov Vasily , Malievsky Oleg , Petryaikina Elena , Ribkina Irina , Stotikova Olga , Tiulpakov Anatoly

Background: Neonatal diabetes mellitus (NDM) comprises a group of monogenic disorders caused by mutations in genes involved in pancreatic development or insulin secretion. Accurate and rapid molecular diagnosis of NDM is pivotal for making decision on the treatment strategy. Next-generation sequencing (NGS) allows simultaneos analysis of several candidate genes, which facilitates the diagnostic procedure in NDM.Objective and hypotheses: To summarise our ...