A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia.

ABSTRACT:

Background

Inherited thrombocytopenias (ITs) are a heterogeneous group of disorders characterized by low platelet counts and often disproportionate bleeding with over 30 genes currently implicated. Previously the UK-GAPP study using whole exome sequencing (WES) identified a pathogenic variant in 19 of 47 (40%) patients of which 71% had variants in genes known to cause IT.

Aims

To employ a targeted next-generation sequencing platform to improve efficiency of diagnostic testing and reduce overall costs.

Methods

We have developed an IT-specific gene panel as a pre-screen for patients prior to WES using the Agilent SureSelect^QXT transposon-based enrichment system.

Results

Thirty-one patients were analyzed using the panel-based sequencing, of which; 10% (

SUBMITTER: Johnson B 

PROVIDER: S-EPMC6178765 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature