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

Keita NakanishiTakayuki OkamotoKandai NozuShigeo HaraYasuyuki SatoAsako HayashiToshiyuki TakahashiChina NaganoNana SakakibaraTomoko HorinouchiJunya FujimuraShogo MinamikawaTomohiko YamamuraRini RossantiHiroaki NagaseHiroshi KaitoTadashi ArigaKazumoto Iijima

Published in: Clinical and experimental nephrology (2018)

These 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.

Keyphrases

copy number
mitochondrial dna
genome wide
chronic kidney disease
dna methylation
high throughput
high resolution
replacement therapy
end stage renal disease
mass spectrometry
high density