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. Author manuscript; available in PMC: 2021 Sep 1.
Published in final edited form as: Kidney Int. 2020 Apr 24;98(3):590–600. doi: 10.1016/j.kint.2020.03.031

Figure 2. Suggested algorithm for genetic testing of KDUE.

Figure 2.

Patients in which a genetic disease is suspected can be tested as outlined. Secondary analyses may clarify negative results or VUS. Cases without positive results should be periodically reviewed and reanalyzed.

* CNV analysis is possible with exome data and is offered by some commercial testing laboratories, although CMA generally has higher sensitivity.</p/> ** ES may miss some SNVs, exons or entire genes due to variability in capture and coverage. ES may also miss CNVs, moderate sized deletions/duplications, retrotransposition, and deep intronic splice variants.