Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.

ABSTRACT:

Background

Hemophagocytic lymphohistiocytosis (HLH) is a rapid-onset, potentially fatal hyperinflammatory syndrome. A prompt molecular diagnosis is crucial for appropriate clinical management. Here, we validated and prospectively evaluated a targeted high-throughput sequencing approach for HLH diagnostics.

Methods

A high-throughput sequencing strategy of 12 genes linked to HLH was validated in 13 patients with previously identified HLH-associated mutations and prospectively evaluated in 58 HLH patients. Moreover, 2504 healthy individuals from the 1000 Genomes project were analyzed in silico for variants in the same genes.

Results

Analyses revealed a mutation detection sensitivity of 97.3%, an average coverage per gene of 98.0%, and adequate coverage over 98.6% of site

SUBMITTER: Tesi B 

PROVIDER: S-EPMC4684627 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature