NEWBORN SCREENING TRANSLATIONAL RESEARCH NETWORK COORD CTR

该项目在Luminex xMAP平台上集成了两种互补的多路高通量分析方案，用于免疫分析和悬浮阵列的高多路DNA突变分析，需要新生儿筛查（NBS）项目在技术上进行新的实际投资。该提案的目的是研究将方法与新的组合Luminex测试系统集成的机会，以开发一个全面的NBS平台。该项目将在Luminex xMAP平台上开发用于NBS程序的综合分析。本文将描述两种发展路径：

This project integrates two complementary multiplex, high-throughput analytical protocols on the Luminex xMAP platform - for both immunoassay and highly multiplexed DNA mutation analysis by suspension array - requiring new yet practical investment in technology by newborn screening (NBS) programs. The objective of this proposal is to investigate opportunities to integrate methodologies with this new combined Luminex testing system to develop a comprehensive NBS platform. The project will develop comprehensive assays on the Luminex xMAP platform for use in NBS programs. Two development paths will be described: ¿ DNA mutation analysis - using the Luminex liquid universal array platform to develop assays for galactosemia (5 mutations); MCADD (5 mutations), biotinidase deficiency (5 mutations); hearing loss due to connexin-26 in the GJB2 gene (3 mutations) (35); and cytomegalovirus virus (3 markers). ¿ Phenotypic analysis - using mUltiplex microsphere sets with conjugated antibodies for specific analyte detection to screen for congenital hypothyroidism, cystic fibrosis, congenital adrenal hyperplasia, and the leukodystrophies Krabbe and Pompe disease.