PCR Amplicon-Based NGS Panel for Newborn IEM

PCR Amplicon-Based NGS Panel for Newborn IEM

     Tandem mass spectrometry (MS/MS) is widely used for the newborn screening.  However, some genetic diseases with relatively high incidence are not covered by MS/MS platforms and the misdiagnosis rates by MS/MS are  relatively high for some diseases. So, the next  generation  sequencing (NGS) technology has  become the alternative technology for clinical diagnosis.

      The "Baby Health"  newborn  NGS  project adopts the “all-in-one” ultrahigh PCR amplicon capture technology independently  developed by Uni-Medica to achieve rapid and  efficient library  construction based on dry blood spots (five 3 mm spots) for down-stream sequencing. The newborn NGS panel contains130 genes of 126 geneticdiseases suitable for neonatal detection, including diseases that are conventionally detected by MS/MS and other diseases with screening value for neonates, for example, lysosomal diseases, Wilson  disease  and so  on.  In  addition,  the panel also covers  metabolic  epilepsy such as  pyridoxine-dependent epilepsy, serine synthesis disorder, creatine synthesis disorder, which can be used to explore more possibilities for newborn screening.


1595584812179488.png

客服中心
技术支持: 江西八度鱼网络科技有限公司 | 管理登录