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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… Click to show full 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.
Journal Title: Kidney international
Year Published: 2018
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