Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis

Tesi B., Lagerstedt-Robinson K., Chiang S. C. C., Ben Bdira E., Abboud M., Belen B., ...More

GENOME MEDICINE, vol.7, 2015 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 7
  • Publication Date: 2015
  • Doi Number: 10.1186/s13073-015-0244-1
  • Journal Name: GENOME MEDICINE
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Istanbul University Affiliated: Yes

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.