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Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis
- Source :
- Diagnostics, Vol 12, Iss 5, p 1169 (2022)
- Publication Year :
- 2022
- Publisher :
- MDPI AG, 2022.
-
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 clinical and para-clinical findings were not consistent enough with molecular findings). Results: A certain diagnosis was established in 169 patients among the 602 included (28.1%). Molecular studies led to a suggested diagnosis in 40 patients (6.6%) and to an uncertain diagnosis in 21 patients (3.5%). In 372 children (61.7%), no molecular defect was identified. Conclusions: NGS is a useful diagnostic tool in pediatric cholestasis, providing a certain diagnosis in 28.1% of the patients included in this study. In the remaining patients, especially those with variants of uncertain significance, the imputability of the variants requires further investigations.
Details
- Language :
- English
- ISSN :
- 20754418
- Volume :
- 12
- Issue :
- 5
- Database :
- Directory of Open Access Journals
- Journal :
- Diagnostics
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.71ba909fe65b4bb7be1a22d10e514f3b
- Document Type :
- article
- Full Text :
- https://doi.org/10.3390/diagnostics12051169