Combined approach for genetic diagnosis of infant cholestasis may improve management

A combined approach to genetic analysis, including panel-based next-generation sequencing (NGS) and whole exome sequencing (WES), may improve the diagnosis and management of infant cholestasis, according to a presentation at the 6th World Congress of Paediatric Gastroenterology, Hepatology and Nutrition.

Of the 413 patients who requested consultation of genetic analysis, 142 received Sanger sequencing-based on clinical features with 8 detected to have pathogenic variants, 256 received panel-based NGS analysis with 73 detected to have pathogenic variants, and 15 patients with multi-organ involvement received WES analysis directly with 8 detected to have genetic mutations. WES analysis was performed on 17 patients who received panel-based NGS that did not detect disease-causing variants; WES analysis detected 5 with pathogenic variants.

Reference |Chent HL, et al. A combined approach of panel-based NGS and WES for genetic analysis in pediatric cholestasis patients. Presented at: 6th World Congress of Paediatric Gastroenterology, Hepatology and Nutrition.