Review of current status of molecular diagnosis and characterization of monogenic diabetes mellitus: a focus on next-generation sequencing

Introduction: Monogenic diabetes is a subset of diabetes characterized by the presence of single-gene mutations and includes neonatal diabetes mellitus and maturity-onset diabetes of the young. Due to the genetic etiology of monogenic diabetes, molecular genetic testing can be used for diagnosis and classification. Areas covered: In addition to first-generation molecular analyses, many large clinical laboratories are transitioning to multiplexed next-generation sequencing panels to simultaneously assess patients for several of the most common genetic mutations seen in monogenic diabetes. With expanded development and adoption of next-generation sequencing panels, particularly in reference to laboratory settings, diagnostic testing for monogenic diabetes has the potential to be more accessible to the patient population. Expert opinion: Although molecular diagnostic testing is becoming increasingly prevalent, it is crucial to identify patients most likely to benefit from molecular testing versus those whose disease can be diagnosed and characterized with more traditional, less costly laboratory analyses. The continuous evolution of clinical molecular testing will be echoed in the clinical laboratory analysis of monogenic diabetes and continue to improve the diagnostic capabilities for monogenic diabetes mellitus.