Current status and consideration of laboratory diagnosis of monogenic diseases
10.3760/cma.j.issn.1009-9158.2015.08.002
- VernacularTitle:单基因遗传病实验室诊断的现状与思考
- Author:
Haiyan ZHU
- Publication Type:Journal Article
- Keywords:
Genetic diseases,inborn;
Genetic testing;
Clinical laboratory techniques;
Quality control
- From:
Chinese Journal of Laboratory Medicine
2015;(8):508-510
- CountryChina
- Language:Chinese
-
Abstract:
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.
