基于方法的熟练测试的实施,进化和实验室性能,用于下一代测序检测生殖系序列变异的下一代测序
Karen D Tsuchiya1, Birgit Funke2, Madhuri Hegde3
1From the Department of Laboratory Medicine and Pathology, University of Washington, Seattle (Tsuchiya).
Archives of pathology & laboratory medicine
|October 18, 2023
概括
下一代测序 (NGS) 试验证明了遗传性疾病的高间实验室分析性能. 实验室从2016年到2020年在变种检测中始终取得了出色的灵敏度和特异性.
科学领域:
- 遗传学和基因组学 在
- 分子诊断学 分子诊断
- 实验室医学 实验室医学
背景情况:
- 下一代测序 (NGS) 对于诊断遗传性疾病至关重要.
- 关于这些诊断试验的实验室间分析性能存在有限的数据.
- 美国病理学家学院 (CAP) 启动了NGS生殖系计划,以解决这一差距.
研究的目的:
- 报告基于NGS的生殖线检测的实验室间分析性能.
- 分析2016-2020年CAP NGS生殖系计划中的实验室检测实践的演变.
- 评估参与实验室对变种检测的一致性和准确性.
主要方法:
- 对CAP NGS Germline计划 (2016-2020) 的结果进行分析.
- 自我报告的实验室测试实践的评估,包括测试产品 (面板,外基因组,基因组).
- 评估实验室间分析性能指标,如变种检测的灵敏度和特异性.
主要成果:
- 在2016-2020年期间,共有297个实验室参与了该项目,其测试产品在不断发展.
- 变异的中位检测百分比在94.3%至100%之间,对参考位置的准确性为100%.
- 实验室始终达到检测值 (≥90%的变种检测) 和特异性值 (≥95%).
结论:
- 参与CAP NGS生殖系计划的实验室自成立以来一直表现出高的分析性能.
- 检测序列变异 (SNV,indels) 的传感度和特异性的中位数为100.0%.
- 这些发现支持基于NGS的测试用于诊断遗传性疾病的可靠性.
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