A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism

• Main Authors: Wenjie Wang (Author), Jianping Yang (Author), Jinjie Xue (Author), Wenjuan Mu (Author), Xiaogang Zhang (Author), Wang Wu (Author), Mengnan Xu (Author), Yuyan Gong (Author), Yiqian Liu (Author), Yu Zhang (Author), Xiaobing Xie (Author), Weiyue Gu (Author), Jigeng Bai (Author), David S. Cram (Author)
• Format: Book
• Published: BMC, 2019-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Tandem mass spectrometry (MS MS) and simple fluorometric assays are currently used in newborn screening programs to detect inborn errors of metabolism (IEM). The aim of the study was to evaluate the clinical utility of exome sequencing as a second tier screening method to assist...