The Results of Whole Exome Sequencing Performed On Previously Undiagnosed Pediatric Neurology Patients.

ABSTRACT:

Objective

Whole exome sequencing (WES) is a new molecular diagnostic test, used in pediatric medicine, especially pediatric neurology. The diagnostic yield of WES is higher than conventional methods. Therefore, this study aimed to assess the diagnostic yield of WES in a pediatric neurology clinic and to report positive results.

Materials & methods

This retrospective study was performed on patients, presenting to the pediatric neurology clinic of Ghaem Hospital in Mashhad, Iran, between March 2015 and March 2017, with various neurological disabilities and unrevealing workup before WES. The patients' clinical features and molecular diagnoses based on the WES results were reported in this study.

Results

The overall diagnostic yield of WES was 82.71% (67/81 patients). Two

SUBMITTER: Ahmadnia N 

PROVIDER: S-EPMC9376020 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature