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Updated: Jun 21, 2026
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Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
Validation of NTRK Fusion Detection Using an Ultrarapid, Fully Automated Cartridge-Based PCR Assay
Gloria Hopkins Sura1, Srividya Arjuna1, Mohamed H Maher2
1Division of Pathology and Laboratory Medicine, The University of Texas MD Anderson Cancer Center, Houston, Texas.
The Journal of Molecular Diagnostics : JMD
|June 19, 2026
Summary
The Idylla GeneFusion Assay offers a rapid method for detecting NTRK gene fusions, crucial for targeted cancer therapy. It shows high concordance with next-generation sequencing, making it a practical frontline tool.
Area of Science:
- Oncology
- Molecular Diagnostics
- Genetics
Background:
- NTRK gene fusions are rare but critical oncogenic drivers for TRK-targeted therapy.
- Conventional detection methods have limitations in sensitivity, cost, and turnaround time.
Purpose of the Study:
- To evaluate the performance of the Idylla GeneFusion Assay for detecting NTRK1/2/3 fusions.
- To assess its utility as a frontline diagnostic tool compared to next-generation sequencing (NGS).
Main Methods:
- Retrospective analysis of 193 tissue and cytology specimens with prior RNA-based NGS profiling.
- Evaluation of the Idylla GeneFusion Assay, a fully automated cartridge-based platform inferring fusions via expression imbalance.
Main Results:
- The assay detected 62.0% of NTRK fusions identified by NGS.
- High concordance with NGS was observed for definitive results (95.7% positive, 100% negative agreement).
- Sensitivity increased to 96.3% when including equivocal results, with 93.9% negative agreement.
Conclusions:
- The Idylla GeneFusion Assay is a rapid and practical frontline tool for NTRK fusion detection.
- It is particularly useful in settings with limited tissue or urgent need for results.
- Reflex NGS is recommended for equivocal cases or when fusion partner identification is necessary.
