综合多基因小组测试对神经病变患者的诊断和临床实用性
Jennifer Roggenbuck1, Ana Morales2, Colin A Ellis3
1The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
Journal of the peripheral nervous system : JPNS
|August 14, 2024
概括
下一代测序 (NGS) 显著改善了对外围神经病变的诊断,识别了旧指导方针遗漏的可操作的遗传变异. 扩展基因测试对于全面的患者护理至关重要.
科学领域:
- 遗传学 是一个遗传学.
- 神经学 神经学
- 分子诊断学 分子诊断
背景情况:
- 传统的神经病症评估包括对获得原因的查和针对特定基因的有针对性的基因测试 (PMP22,MFN2,GJB1,MPZ).
- 这种方法通常仅限于具有积极家族病史和早期症状发作的患者.
研究的目的:
- 评估下一代测序 (NGS) 的临床实用性和诊断产量,用于大批患有外围神经病变的成年患者.
- 将基于NGS的多基因面板测试的诊断能力与较旧的,指南限制的测试策略进行比较.
主要方法:
- 一组6849名成年患者接受了临床医生指定的外围神经病多基因小组测试.
- 测试小组包括66至111个基因,并结合了NGS与内基因删除/重复分析.
主要成果:
- 在8.4%的患者 (573/6849) 中实现了分子诊断.
- 在这些诊断中,PMP22,MFN2,GJB1,MPZ和TTR的变异占73.8%.
- 对69.5%的患者 (398/573) 发现了临床可行性,较大比例的诊断和干预措施被旧指南遗漏.
结论:
- 与传统方法相比,基于NGS的多基因小组测试为外围神经病变提供了更高的诊断产量.
- 目前针对神经病变的基因测试指南需要扩展,包括更多的基因,并解决获得和遗传形式之间的重叠问题.
- 为了改善患者管理和治疗策略,更广泛地获得全面的遗传诊断是必不可少的.
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