T/GDPMAA 0003-2020 Pre-natal Exon Sequencing Genetic Advisory and Reporting Standardization
T/GDPMAA 0003-2020 Pre-natal Exon Sequencing Genetic Advisory and Reporting Standardization
Basic Information
Scope
Scope: This standard applies to hospitals with prenatal diagnosis qualifications (molecular genetics) or university molecular diagnostic laboratories established in cooperation with them, as well as independent medical laboratories and other institutions, when conducting full-process standardized management (including but not limited to data analysis, result interpretation, and report issuance) of human genome variation detection in fetal samples using NGS sequencing technology (including various gene package sequencing, medical exome sequencing, whole exome sequencing, and whole genome sequencing). Unless otherwise specified, the subjects involved in subsequent consultations and reporting are all fetuses. Main technical content: This standard aims to specify pre-test consultation, informed consent forms, data analysis processes, report content and requirements, as well as post-test consultation for exome sequencing (ES) in prenatal genetic diagnosis. This standard stipulates the application prerequisites, informed consent, quality control before, during, and after testing, data analysis processes, and report content and requirements for exome sequencing (ES) in prenatal genetic diagnosis.