Panel-based genetic testing for inherited retinal disease screening 176 genes.

Leo H N SheckSimona D EspostiOmar A MahrooGavin ArnoNikolas PontikosGenevieve WrightAndrew R WebsterKamron N KhanMichel Michaelides

Published in: Molecular genetics & genomic medicine (2021)

This study confirms that NGS 176 is a useful first-tier genetic test for most IRD patients. Age and initial clinical diagnosis were strongly associated with diagnostic yield.

Keyphrases

end stage renal disease
genome wide
ejection fraction
newly diagnosed
chronic kidney disease
peritoneal dialysis
prognostic factors
optical coherence tomography
patient reported outcomes
gene expression
dna methylation
patient reported