肾脏病学的下一代分子遗传学诊断时代已经到来！
The time for next-generation molecular genetic diagnostics in nephrology is now!
机构信息
Mayo Clinic, Rochester, Minnesota, USA.
出版信息
Kidney Int. 2018 Aug;94(2):237-239. doi: 10.1016/j.kint.2018.03.025.
Abstract
Global and disease-group genetic testing is replacing single-gene molecular diagnostics. Bullich et al. demonstrate that gene panel analysis can result in a high yield of genetic diagnoses in cystic and familial glomerular populations. As the complexity of defining specific inherited kidney diseases becomes more apparent, a broader role for panel-based genomic testing in nephrology is now warranted. The resulting firm diagnosis can inform family planning decisions and aid prognostics and patient management.
摘要
全球和疾病组基因检测正在取代单基因分子诊断。Bullich 等人证明，基因panel 分析可以在囊性和家族性肾小球人群中产生高比例的遗传诊断。随着定义特定遗传性肾脏疾病的复杂性变得更加明显，基于 panel 的基因组检测在肾脏病学中的更广泛应用是合理的。明确的诊断结果可以为家庭计划决策提供信息，并有助于预后和患者管理。
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