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通过下一代测序来诊断遗传性结肠直肠癌

Ting Wen^1,2, Fabienne Ehivet³, Christine Stanislaw³

¹University of Utah School of Medicine, Salt Lake City, Utah.

Current protocols

|December 19, 2023

概括

本协议详细介绍了使用下一代测序 (NGS) 面板进行遗传性结直肠癌 (CRC) 分子诊断的逐步工作流程. 它专注于图书馆准备和测序,帮助临床实验室准确检测遗传变异,以改善患者护理.

科学领域:

遗传学是一个遗传学.
分子生物学分子生物学
在瘤学瘤学.

背景情况:

致病性生殖系变异是结直肠癌 (CRC) 和多重症的关键驱动因素.
下一代测序 (NGS) 为具有成本效益的CRC诊断提供了一种强大的方法.

研究的目的:

为基于NGS面板的CRC分子诊断提供详细的技术协议.
引导临床实验室通过湿实验室程序进行图书馆准备和测序.

主要方法:

专注于NGS的湿实验室部分,包括图书馆准备步骤,如gDNA碎片化,适配器结合,索引,杂交和捕获.
使用多个质量控制检查点的基于拉向下拉的目标丰富.
涵盖捕获前和捕获后的PCR放大.

主要成果:

通过NGS建立一个全面的技术工作流程,通过NGS诊断遗传性CRC.
突出了实验室实施NGS面板测试的关键决策点.

结论:

该协议是进行基于NGS的遗传CRC测试的临床实验室的宝贵资源.
遵守该协议,以及NCCN的指导方针,可以提高诊断准确性和患者管理.

关键词:

在ACMG技术标准指南中.一个基于捕获的库.基因组DNA (gDNA) 是一种基因组DNA.林奇综合征是什么意思林奇综合征大规模并行测序.

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