Demander un diagnostic génétique en diabétologie

Different clinical situations of monogenic diabetes (MODY, Maturity-Onset Diabetes of the Young; diabetes resulting from mutations in the ATP-sensitive potassium channel; diabetes with extrapancreatic features) are here reported to illustrate the clinical approach in the identification of monogenic diabetes. The practical and legal rules of molecular testing as well as the interpretation of results are presented. Both are essential and should be known by the clinician before requesting genetic testing, before taking medical decisions for patient treatment according to genetic results or requesting genetic screening of family members.