This standard aims to specify pre-test consultation, informed consent, data analysis process, reporting content and requirements, and post-test consultation for exome sequencing (ES) in prenatal genetic diagnosis. This standard specifies the application prerequisites, informed consent, quality control before, during and after testing, data analysis process, reporting content and requirements for exome sequencing (ES) in prenatal genetic diagnosis.
T/GDPMAA 0003-2020 history
2020T/GDPMAA 0003-2020 A consensus recommendation for the interpretation and reporting of exome sequencing in prenatal genetic diagnosis