Clinical application of next generation sequencing in molecular diagnosis of intellectual disability/global developmental delay
10.3760/cma.j.issn.1009-8158.2019.02.003
- VernacularTitle:高通量测序技术在智力障碍/全面发育迟缓中的临床应用
- Author:
Yu SUN
1
;
Qihua FU
;
Yongguo YU
Author Information
1. 上海交通大学医学院附属新华医院儿内分泌/遗传科
- Keywords:
Intellectual disability;
Next generation sequencing;
Whole exome sequencing;
Mutation
- From:
Chinese Journal of Laboratory Medicine
2019;42(2):84-88
- CountryChina
- Language:Chinese
-
Abstract:
Intellectual disability (ID) is a group of neurodevelopmental disorders with high heterogeneous in both genotypes and phenotypes and its definitive diagnosis is increasingly dependent ongenome-wide molecular diagnostics.Based on next generation sequencing(NGS), panel sequencing, whole exome sequencing (WES) and even whole genome sequencing are well applied to the molecular diagnosis of ID. Based on these, we recommend WES, especially trio-WES as the preferred detection method. NGS data analysis and reanalysis for ID have clinical significance for diagnosis, and can detect small scale variation and copy number variation in the genome reliably. Therefore, it has the potential to become the next recommended molecular diagnostic toolfor ID.
