面板,外体,基因组,以及更多-通过诊断奥德赛寻找最佳途径
Arthur L Lenahan1, Audrey E Squire1, Danny E Miller2
1Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, 4800 Sand Point Way, Seattle, WA 98105, USA.
Pediatric clinics of North America
|September 13, 2023
概括
对疑似遗传性疾病选择合适的基因测试是复杂的. 本综述指导临床医生选择合适的遗传测试,并讨论了变种识别的未来技术.
科学领域:
- 医学遗传学 医学遗传学
- 基因组医学是基因组医学.
- 临床诊断 临床诊断 临床诊断
背景情况:
- 诊断遗传性疾病存在挑战,因为各种可用的临床遗传测试.
- 没有任何一项遗传测试可以识别所有致病性遗传变异,因此需要逐步测试策略.
- 对于临床医生来说,在非信息化测试后确定下一个诊断步骤可能很困难.
研究的目的:
- 提供常用临床遗传测试的概述.
- 提供关于每个基因测试的最佳应用的指导.
- 讨论当前基因测试的局限性和未来的技术进步.
主要方法:
- 对当前临床遗传测试方式的文献综述.
- 分析各种遗传测试的优缺点.
- 讨论用于检测遗传变异的新兴技术.
主要成果:
- 已建立的遗传测试概述,包括全外体测序和全基因组测序.
- 基于临床表现和可疑遗传病因学的测试选择指南.
- 鉴定当前基因测试的局限性,例如特定变异类型的挑战.
结论:
- 临床遗传测试需要根据疑似疾病和测试能力进行仔细的选择.
- 了解每个测试的局限性对于有效的诊断旅程至关重要.
- 技术的进步有望改善变种检测和简化基因测试在未来.
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