A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.
Wenjie WangJianping YangJinjie XueWenjuan MuXiaogang ZhangWang WuMengnan XuYuyan GongYiqian LiuYu ZhangXiaobing XieWeiyue GuJigeng BaiDavid S CramPublished in: BMC medical genetics (2019)
The PEARS assay has clinical utility as a rapid and cost effective second-tier test to assist the clinician to accurately diagnose newborns with a suspected IEM.