Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.

ABSTRACT:

Background

Next-generation sequencing (NGS) technology has allowed the promotion of genetic diagnosis and are becoming increasingly inexpensive and faster. To evaluate the utility of NGS in the clinical field, a targeted genetic panel approach was designed for the diagnosis of a set of inborn errors of metabolism (IEM). The final aim of the study was to compare the findings for the diagnostic yield of NGS in patients who presented with consistent clinical and biochemical suspicion of IEM with those obtained for patients who did not have specific biomarkers.

Methods

The subjects studied (n = 146) were classified into two categories: Group 1 (n = 81), which consisted of patients with clinical and biochemical suspicion of IEM, and Group 2 (n = 65), which consisted of IEM cases

SUBMITTER: Yubero D 

PROVIDER: S-EPMC4887012 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature