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

Peter C. Harris | Zendy

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

Author(s) -

Peter C. Harris

Publication year - 2018

Publication title -

kidney international

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.499

H-Index - 276

eISSN - 1523-1755

pISSN - 0085-2538

DOI - 10.1016/j.kint.2018.03.025

Subject(s) - nephrology , medicine , intensive care medicine , computational biology , biology

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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