Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, USA.
Expert Rev Mol Diagn. 2020 Apr;20(4):413-420. doi: 10.1080/14737159.2020.1730179. Epub 2020 Mar 1.
: 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.: 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.: 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.
单基因糖尿病是一种由单基因突变引起的糖尿病亚组，包括新生儿糖尿病和青年发病的成年型糖尿病。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。除了第一代分子分析外，许多大型临床实验室正在向高通量下一代测序面板过渡，以便同时评估患者是否存在单基因糖尿病中最常见的几种遗传突变。随着下一代测序面板的不断发展和采用，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。虽然分子诊断测试越来越普遍，但识别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来诊断和描述疾病的患者至关重要。临床分子测试的不断发展将在单基因糖尿病的临床实验室分析中得到呼应，并继续提高单基因糖尿病的诊断能力。
