Development and Clinical Validation of a Multiplex Gene Fusion Assay

Research output: Contribution to journalArticlepeer-review

7 Scopus citations


Objective: The detection of gene fusion events is important for the diagnosis and management of malignancies. In this study, we describe the validation of a next-generation sequencing assay for multiplex detection of gene fusions. Methods: Based on previously described gene fusion events that occur in pediatric oncology, a custom anchored multiplex next-generation sequencing assay was designed to target 93 genes. Results: A total of 24 previously characterized specimens were examined. Twenty specimens had 1 or more previously described fusion events, and 4 specimens were negative for fusion events. The accuracy across specimens was 100% (20 of 20 specimens). The analytical sensitivity and specificity were both 100%. Interday reproducibility for fusion events was 94%; in comparison, intraday reproducibility was 90%. Conclusion: This multiple-gene fusion assay demonstrated appropriate sensitivity, specificity, and accuracy for clinical use. We anticipate that this assay will improve the diagnosis and management of patients with pediatric solid tumors.

Original languageEnglish (US)
Pages (from-to)512-518
Number of pages7
JournalLab Medicine
Issue number5
StatePublished - 2021


  • Anchored multiplex
  • Anchored multiplex PCR sequencing
  • Gene fusion
  • Gene fusion events
  • Genomic
  • Pediatric oncology
  • Pediatric tumors
  • RNAseq

ASJC Scopus subject areas

  • Clinical Biochemistry
  • Biochemistry, medical


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