The time for next-generation molecular genetic diagnostics in nephrology is now!

现在正是肾脏病学领域应用下一代分子遗传诊断技术的最佳时机!

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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.

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