Genetic testing in MODY and neonatal types of diabetes

Abstract

Genetic testing and molecular diagnosis play growing role in differential diagnosis of diabetes. They bring important practical implications for diabetologists and their patients. This applies particularly to MODY (maturity onset diabetes of the young) and PNDM (permanent neonatal diabetes mellitus) forms of disease. In those monogenic forms of diabetes prognostic and diagnostic genetic tests allow to establish proper etiologic diagnosis, introduction of the optimal treatment, and the estimation of the prognosis for the individuals in the family. This review article summarizes the current knowledge and practical impact of the genetic testing in MODY and PNDM.