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 Cram

Published 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.

Keyphrases

high throughput
single cell
loop mediated isothermal amplification
pregnant women
pulmonary embolism
patient safety
emergency department
low birth weight
gestational age
cord blood
preterm infants
gene expression
dna methylation
preterm birth
electronic health record
quality improvement
quantum dots