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在CytoScan XON测定和临床样本下一代测序中比较表子级副本数变异

Dongju Won¹, Eunju Yeom², Saeam Shin¹

¹Department of Laboratory Medicine, Yonsei University College of Medicine, Severance Hospital, Seoul, Republic of Korea.

Clinica chimica acta; international journal of clinical chemistry

|May 19, 2024

概括

赛托斯堪XON试验对检测外子级拷贝数变异 (CNV) 有望,尽管在识别小型CNV方面存在一些局限性,但其特异性很高. 这个工具有助于验证下一代测序 (NGS) 结果.

科学领域:

遗传学是一个遗传学.
分子生物学分子生物学
生物信息学是一种生物信息学.

背景情况:

对于副本数变异 (CNVs) 的下一代测序 (NGS) 存在很高的错误阳性率,特别是在涉及较少外型的CNVs中.
在外显子级的CNV检测对于准确的遗传诊断至关重要.
开发了一种新型的CytoScan XON测定方法,以解决NGS在exon级CNV评估中的局限性.

研究的目的:

评估CytoScan XON试验在检测临床相关的外子级 CNV 的性能.
将CytoScan XON测试的结果与从NGS和多重结合依赖探头放大 (MLPA) 中获得的结果进行比较.
评估CytoScan XON测定对小的外子级 CNV 的灵敏度和特异性.

主要方法:

从20个患者的血液样本中获得的23个外体水平的CNV的回顾性分析,这些血液样本之前已被NGS识别.
在CytoScan XON,NGS和MLPA之间对CNV检测结果的比较.
使用MLPA验证差异,以确定NGS中的假阳性率.

主要成果:

在CytoScan XON测定中,在23个外水平CNV中15个中,NGS结果与CytoScan XON测定结果一致.
MLPA证实了这些一致的CNV中的八个.
在CytoScan XON测定中,对于小的外子级CNVs,获得了72.7%的灵敏度和100%的特异性,并从NGS中识别了三个虚假阳性.

结论:

赛托斯堪XON测定是一种有价值的补充工具,用于检测外子级CNVs.
建议仔细考虑探针分布和CNV调用区域,以获得最佳的测试性能.
该试验显示了在基因检测中提高CNV检测准确性的潜力.

关键词:

通过CytoScan XON检测进行测试.异构层次的副本编号变体.多重联结依赖的探头放大,多重联结依赖的探头放大这是下一代测序.

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