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在儿童中,基因测序和染色体微数组的诊断收益率

Kelly C Burk¹, Maki Kaneko², Catherine Quindipan²

¹Department of Neurology, Keck School of Medicine of the University of Southern California, Los Angeles, California.

Pediatric neurology

|November 18, 2023

概括

使用基因测序 (EGS) 的遗传测试与染色体微阵列 (CMA) 相比,提供了更高的诊断产量. 对于婴儿发作和复杂的神经现象,EGS特别有效.

科学领域:

遗传学遗传学是一个
神经学神经学
临床诊断临床诊断临床诊断

背景情况:

遗传因素导致大约40%的病例.
染色体微阵列 (CMA) 和基因测序 (EGS) 是的关键遗传测试.
在最近的研究中,EGS显示出比CMA更高的诊断产量.

研究的目的:

为了比较CMA和EGS的诊断产量,以确定遗传性病因.
调查发作的年龄和表型复杂性对诊断产量的影响.

主要方法:

从患者队伍中对遗传测试结果的回顾性分析.
在CMA (n=366) 和EGS (n=370) 之间对诊断产量的比较.
根据发作发作的年龄和表型复杂度对结果的分层.

主要成果:

在17.6%的病例中,EGS发现了致病变异,明显高于CMA的7.7%.
此外,EGS的不确定意义变异 (VUS) 率也更高,为41.9%,而CMA为16.4%.
EGS的诊断优势在婴儿发作发作和复杂的神经现象类型中更为明显.

结论:

基因测序 (EGS) 显示出明显高于染色体微阵列 (CMA) 的诊断产量.
EGS在诊断遗传性方面更有效,特别是在早期发作和复杂病例中.
应该将EGS视为一种主要的诊断工具,以加快的诊断和资源分配.

关键词:

是一种病.基因检测是一种基因检测.分子诊断学分子诊断学精准医学是一门精准的医学.

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