A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.

ABSTRACT: Inherited bleeding, thrombotic, and platelet disorders (BPDs) are diseases that affect ∼300 individuals per million births. With the exception of hemophilia and von Willebrand disease patients, a molecular analysis for patients with a BPD is often unavailable. Many specialized tests are usually required to reach a putative diagnosis and they are typically performed in a step-wise manner to control costs. This approach causes delays and a conclusive molecular diagnosis is often never reached, which can compromise treatment and impede rapid identification of affected relatives. To address this unmet diagnostic need, we designed a high-throughput sequencing platform targeting 63 genes relevant for BPDs. The platform can call single nucleotide variants, short insertions/deletions, and large co

SUBMITTER: Simeoni I 

PROVIDER: S-EPMC5016734 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature