Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.

ABSTRACT:

Background

Diagnostic trajectories for neurogenetic disorders frequently require the use of considerable time and resources, exposing patients and families to so-called "diagnostic odysseys". Previous studies have provided strong evidence for increased diagnostic and clinical utility of whole-exome sequencing in medical genetics. However, specific reports assessing its utility in a setting such as ours- a neurogeneticist led academic group serving in a low-income country-are rare.

Objectives

To assess the diagnostic yield of WES in patients suspected of having a neurogenetic condition and explore the cost-effectiveness of its implementation in a research group located in an Argentinean public hospital.

Methods

This is a prospective study of the clinical utility of WES

SUBMITTER: Cordoba M 

PROVIDER: S-EPMC5794057 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature