Rare diseases refer to a group of single diseases with low incidence rates, complex pathogeneses, severe disease conditions, and rapid progression. Most rare diseases have a genetic background and may occur in childhood. Paying attention to the rare genetic diseases in children and performing early diagnosis and treatment can effectively delay the course of disease and improve the quality of life of children. Many rare diseases can be diagnosed with the help of various experimental techniques, but the diagnosis of rare diseases is still not widely understood. This article summarizes the laboratory diagnostic techniques currently used for rare genetic diseases in children, so as to provide clues for the diagnosis and treatment of such diseases and help to enhance the theoretical understanding and precise medical treatment of rare genetic diseases in children.
罕见病指一类发病率低、发病机制复杂、病情严重，进展迅速的单病种疾病。多数罕见病有遗传背景，在儿童期即可发病。关注遗传相关儿童罕见病，早期诊治，可有效延缓病程，改善患儿生存质量。得益于各类实验技术的惠及，很多罕见病得以确诊，但不容忽视的是罕见病的诊断仍缺乏广泛认识。该文总结遗传相关儿童罕见病目前的实验室诊断技术，以期为该类疾病的诊治提供线索，有助于遗传相关儿童罕见病的理论认识和精准医疗。.
Keywords: Child; Diagnostic technique; Genetics; Rare disease.