Targeted NGS: A Cost-Effective Approach to Molecular Diagnosis of PIDs.

ABSTRACT:

Background

Primary immunodeficiencies (PIDs) are a diverse group of disorders caused by multiple genetic defects. Obtaining a molecular diagnosis for PID patients using a phenotype-based approach is often complex, expensive, and not always successful. Next-generation sequencing (NGS) methods offer an unbiased genotype-based approach, which can facilitate molecular diagnostics.

Objective

To develop an efficient NGS method to identify variants in PID-related genes.

Methods

We performed HaloPlex custom target enrichment and NGS using the Ion Torrent PGM to screen 173 genes in 11 healthy controls, 13 PID patients previously evaluated with either an identified mutation or SNP, and 120 patients with undiagnosed PIDs. Sensitivity and specificity were determined by comparing

SUBMITTER: Stoddard JL 

PROVIDER: S-EPMC4217515 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature