Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.

ABSTRACT:

Background

Cholestasis is a frequent and severe condition during childhood. Genetic cholestatic diseases represent up to 25% of pediatric cholestasis. Molecular analysis by targeted-capture next generation sequencing (NGS) has recently emerged as an efficient diagnostic tool. The objective of this study is to evaluate the use of NGS in children with cholestasis.

Methods

Children presenting cholestasis were included between 2015 and 2020. Molecular sequencing was performed by targeted capture of a panel of 34 genes involved in cholestasis and jaundice. Patients were classified into three categories: certain diagnosis; suggested diagnosis (when genotype was consistent with phenotype for conditions without any available OMIM or ORPHANET-number); uncertain diagnosis (when clinic

SUBMITTER: Almes M 

PROVIDER: S-EPMC9140938 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature