对怀疑遗传性白质疾病的个体进行诊断的方法
Guy Helman1, Jennifer L Orthmann-Murphy2, Adeline Vanderver3
1Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Handbook of clinical neurology
|September 25, 2024
概括
诊断罕见的儿科白血病,影响白质的疾病,是具有挑战性的. 下一代测序显著提高了诊断率,减少了受影响儿童和家庭的延迟.
科学领域:
- 神经学 神经学
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
背景情况:
- 白血病是一种具有高度诊断挑战的遗传白质疾病.
- 超过100种遗传性疾病,以及感染性和有毒性原因,存在白质异常.
- 诊断对于护理,生活质量和潜在的治疗干预至关重要.
研究的目的:
- 审查儿童白血病的诊断方法.
- 突出下一代测序对诊断的影响.
- 讨论白血病缩诊断方面的挑战和未来方向.
主要方法:
- 对新生儿查,标准护理检测和下一代测序 (NGS) 的审查.
- 对NGS应用程序的分析,包括外基因组和基因组测序.
- 考虑NGS未解决案件的方法.
主要成果:
- 像外体和基因组测序一样,NGS方法是诊断复杂病例的强大工具.
- 分子测试已经将诊断时间从5年以上缩短到大约16个月.
- NGS技术已经大大提高了识别白血病变的原因的能力.
结论:
- 下一代测序已经彻底改变了白血病的诊断,为以前未解决的病例提供了希望.
- 分子测试的持续进步对于及时和准确的诊断至关重要.
- 改善诊断产量对患者管理和家庭支持产生积极影响.
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