Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.

ABSTRACT:

Background

According to the Catalogue of Transmission Genetics in Arabs, less than half of diseases reported in Lebanese patients are mapped. In the recent years, Next Generation Sequencing (NGS) techniques have significantly improved clinical diagnosis, compared to traditional sequencing methods.

Methods

A total of 213 analyses by NGS (167 by whole exome sequencing (WES) and 46 by multigene panels tests) were performed on pediatric patients across different regions of Lebanon over a period of two years (December 2015-December 2017).

Results

Neurological disorders were the most frequent referral demand for both WES and gene panels (122/213). Pathogenic, likely pathogenic, or variants of unknown significance were identified in 69.5% of the WES and panel patients combin

SUBMITTER: Nair P 

PROVIDER: S-EPMC6305638 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature