单基因遗传病实验室诊断的现状与思考

Current status and consideration of laboratory diagnosis of monogenic diseases

高度发展的分子遗传学检测技术，在出生缺陷与遗传病检测领域中得到迅速推广。由于基因检测技术的特殊性，国内尚缺乏相应的室间质评，但目前很多临床实验室正在或准备开展单基因遗传病的诊断及产前诊断工作。本文从基因检测技术的应用现状，结合单基因遗传病诊断的难点，探讨与思考该类疾病实验室诊断的质量保证。

Highly developed molecular genetic techniques have got implemented widely in the diagnosis of birth defects and genetic diseases. Due to the special nature of genetic testing, there is still a lack of appropriate external quality assessment, but many clinical laboratories are conducting or going to conduct genetic diagnosis for monogenic diseases and prenatal diagnosis. In this paper, it will be discussed that how to ensure the quality control of the laboratory diagnosis of monogenetic diseases, based on the present application of genetic testing technologies and the difficulties in the diagnosis of monogenetic diseases.