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.

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回顾单基因糖尿病的分子诊断和表征的现状：关注下一代测序。

简介：单基因糖尿病是糖尿病的一个子集，其特征是存在单基因突变，包括新生儿糖尿病和年轻人成年型糖尿病。由于单基因糖尿病的遗传病因，分子遗传学检测可用于诊断和分类。 涵盖领域：除了第一代分子分析，许多大型临床实验室正在过渡到多路复用的下一代测序面板，以同时评估患者的单基因糖尿病中最常见的几种基因突变。随着下一代测序面板的开发和采用的扩大，特别是在实验室环境中，单基因糖尿病的诊断测试有可能更容易为患者群体所接受。 专家意见：尽管分子诊断测试正变得越来越普遍，但至关重要的是确定最有可能从分子测试中受益的患者与那些可以通过更传统、成本更低的实验室分析诊断和表征疾病的患者。临床分子检测的不断演进将在单基因糖尿病的临床实验室分析中得到呼应，并不断提高单基因糖尿病的诊断能力。