在患有的年轻患者中进行常规板遗传测试的收益率和实用性
Emily Grew1, Mayuri Reddy1, Hayley Reichner1
1Rutgers New Jersey Medical School, Newark, NJ, USA.
Journal of child neurology
|March 26, 2024
概括
8岁以下儿童的常规基因测试产生了临床相关的结果,识别了致病变异和不确定的变异,对治疗和预后有影响.
科学领域:
- 儿科神经学 儿科神经学
- 临床遗传学 临床遗传学
背景情况:
- 是一种常见的儿童神经系统疾病.
- 遗传因素在儿科病的病因学中起着重要作用.
- 基因检测的进步为诊断提供了新的可能性.
研究的目的:
- 为了评估儿科患者常规遗传面板测试的诊断产量.
- 为了确定基因检测结果在患有的儿童中呈阳性基因检测结果的预测因素.
主要方法:
- 从2021年7月到2023年7月,对性遗传小组结果的回顾性审查.
- 包括8岁以下的患者.
- 对人口统计,临床特征,家族病史,EEG和MRI发现的分析.
主要成果:
- 包括65名儿科患者 (平均年龄为4.5岁).
- 在16.9%的患者中发现了致病性变异,在10.8%的患者中发现了自身体衰退性疾病的携带者,在55.4%的患者中发现了不确定的变异.
- 遗传结果与临床特征,人口统计或成像之间没有发现任何关联.
结论:
- 遗传小组为儿科患者提供了临床相关的研究结果.
- 鉴定的变异对治疗,并发症查,生殖和预后有影响.
- 常规基因查对于诊断儿童的原因是有价值的.
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