Pair analysis and custom array CGH can detect a small copy number variation in COQ6 gene

ConclusionsThese relatively novel methods should be adopted in cases with negative results in gene tests by NGS analysis. Especially, in cases with CoQ10 deficiency, it is possible to delay initiating dialysis by starting treatment at their early stages.
Source: Clinical and Experimental Nephrology - Category: Urology & Nephrology Source Type: research