The time for next-generation molecular genetic diagnostics in nephrology is now!
editorial · Level V
Where this comes from
- Record sourced from PubMed, PMID 30031442.
- Also identified by DOI 10.1016/j.kint.2018.03.025 and PMC identifier 6598196.
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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.
Medical subject headings
- Nephrology
- Pathology, Molecular