Gene Fusion Testing Market - Global Forecast 2026-2032

The Gene Fusion Testing Market size was estimated at USD 324.53 million in 2025 and expected to reach USD 347.39 million in 2026, at a CAGR of 6.28% to reach USD 497.39 million by 2032.

Gene fusion testing has emerged as an indispensable pillar of precision medicine, driving diagnostic and therapeutic strategies across oncology, hematology, and rare diseases. By identifying chimeric gene products that underlie malignancies such as non–small cell lung cancer and various leukemias, clinicians can select targeted therapies that improve patient outcomes. Traditional methods like fluorescence in situ hybridization and immunohistochemistry have provided foundational diagnostic capabilities, yet they present limitations in throughput and multiplexing. As a result, the field has progressively adopted molecular approaches, with polymerase chain reaction assays enabling rapid detection of known fusion transcripts and next-generation sequencing platforms offering comprehensive profiling at both DNA and RNA levels. This evolution reflects the convergence of clinical necessity and technological maturity, setting the stage for more nuanced patient stratification and monitoring paradigms

Recent years have witnessed transformative advances that have reshaped the gene fusion testing landscape. RNA–based next-generation sequencing panels, leveraging hybrid capture or amplicon chemistries, now outperform DNA–only approaches in detecting expressed fusion transcripts, addressing challenges posed by large intronic regions and repetitive sequences. Complementing these molecular techniques, computational tools such as STAR-Fusion and FusionCatcher employ sophisticated algorithms to sift through transcriptomic data, identifying rare and novel fusions with high specificity. Furthermore, the integration of machine learning into bioinformatics pipelines is enhancing variant calling accuracy and prioritizing clinically actionable events. Innovations extend beyond the laboratory bench: mobile sequencing laboratories and point-of-care platforms are democratizing access to fusion testing in resource-constrained settings, while liquid biopsy applications harness circulating tumor DNA and RNA for noninvasive disease monitoring. Together, these developments are coalescing into a more agile and comprehensive diagnostic ecosystem that promises faster turnaround times, broader fusion detection, and improved patient management strategies

In early April 2025, sweeping United States tariff policies introduced a universal 10 percent levy on most imported laboratory goods, followed by an additional 20 percent rate on European-origin products and surcharges exceeding 30 percent on Chinese imports. For the life sciences tools market, these measures have compounded costs on instruments, reagents, and consumables, driving an average increase of 2 percent in cost of goods sold for major providers and an estimated 5.6 percent hit to earnings per share across the sector. Companies heavily reliant on overseas manufacturing have faced pronounced margin pressures, prompting some to either absorb costs or increase prices for end users. In turn, U.S. laboratories are grappling with supply chain disruptions, leading to strategic stockpiling, expedited audits of supplier origin, and accelerated onshoring initiatives. Although a May 2025 agreement temporarily rolled back certain retaliatory duties-reducing Chinese tariffs from 145 percent to 30 percent-ongoing policy uncertainty continues to influence procurement strategies and underscores the need for dynamic risk management in diagnostic operations

Gene fusion testing technologies encompass a spectrum from fluorescence in situ hybridization and immunohistochemistry assays to polymerase chain reaction methods and advanced next-generation sequencing platforms. Within sequencing, targeted panels focus on predefined fusion hotspots, transcriptome approaches survey expressed transcripts broadly, and whole genome sequencing captures novel fusion events across the genome’s entirety. Sample preparation remains equally nuanced: blood-based testing subdivides into plasma-derived circulating nucleic acids and serum-based analytes, whereas tissue workflows accommodate formalin-fixed paraffin-embedded specimens or fresh frozen biopsies, each presenting distinct quality considerations. Clinically, fusion detection underpins diagnostic workflows in hematology-where leukemia and lymphoma panels are routine-as well as oncology applications targeting breast, colorectal, lung, and prostate cancer fusions, and extends into rare disease investigations like developmental and neuromuscular disorders. End users span hospital-based and independent diagnostic laboratories, inpatient and outpatient clinical facilities, pharmaceutical and biotechnology firms ranging from agile startups to global pharmas, and academic or private research institutes. Such segmentation underscores the need for tailored assay design, regulatory strategies, and service models to address divergent technical requirements, throughput demands, and regulatory pathways across this evolving market landscape.

The Americas region continues to lead in gene fusion testing adoption, fueled by robust healthcare infrastructure, favorable reimbursement policies, and significant research funding from both public and private sectors. The United States, in particular, has built an expansive ecosystem of reference laboratories and clinical centers offering comprehensive NGS-based fusion panels. Moving eastward, Europe, Middle East, and Africa exhibit diverse regulatory environments; the European Union’s In Vitro Diagnostic Regulation has harmonized approval pathways, while Germany and the United Kingdom maintain particularly advanced diagnostic networks, supported by academic–industry partnerships driving innovation. Across the Asia-Pacific, rapid healthcare investment in countries such as China, Japan, and India is accelerating demand for precision diagnostics. Governments in these markets are increasingly prioritizing domestic assay development and local manufacturing to ensure supply resilience, while regulatory agencies work to streamline approvals for molecular tests. Collectively, these regional dynamics shape divergent adoption curves, partnership opportunities, and entry strategies that demand nuanced approaches for market participants

A cohort of well-capitalized companies has emerged as leaders in gene fusion testing. Illumina continues to advance RNA-targeted sequencing chemistries and bioinformatics suites, while Thermo Fisher Scientific leverages its integrated reagent systems and mid-to-high throughput NGS instruments. Roche has committed substantial capital toward U.S. manufacturing expansions to mitigate tariff risks and enhance supply security, reflecting a broader trend among life science firms to localize critical production. Agilent and Bruker, though historically focused on analytical instrumentation, are also scaling joint ventures and acquisitions to broaden their molecular diagnostics portfolios. QIAGEN and Oxford Nanopore differentiate through streamlined sample-to-answer workflows and mobile sequencer platforms, respectively, addressing niche applications in both clinical and field settings. Strategic alliances between pharmaceutical giants and diagnostic providers are further catalyzing co-development of companion diagnostics, underscoring the convergence of therapeutic development and precision testing. These market leaders continue to invest in standardization, automation, and data integration capabilities to drive assay reproducibility, regulatory compliance, and cost optimization in a competitive environment

Industry leaders should prioritize diversification of manufacturing and sourcing to insulate against geopolitical and trade policy volatility; establishing domestic or near-shore production hubs for critical reagents and consumables can reduce exposure to tariffs and supply chain disruptions. Concurrently, organizations must accelerate standardization of RNA-based NGS fusion assays, engaging directly with regulatory authorities to define consensus guidelines on validation, quality controls, and bioinformatic pipelines that balance accuracy with laboratory throughput. Cultivating collaborative partnerships with clinical laboratories and pharmaceutical developers will be essential to co-design next-generation fusion panels that address emerging targets and rare rearrangements. At the same time, applying machine learning to multi-omics datasets can yield deeper insights into fusion biology, enabling more precise therapeutic stratification. Finally, leaders must embed agile risk management frameworks within procurement and operations, continuously monitoring policy developments and maintaining flexible supplier networks. Together, these strategic imperatives will empower organizations to navigate evolving market dynamics and deliver robust, clinically impactful fusion testing solutions.

This analysis integrates a multimodal research framework combining exhaustive secondary research, expert interviews, and triangulation with peer-reviewed literature. Trade policy impacts were assessed through analysis of publicly disclosed tariff schedules and industry commentary, while technology trends were validated via recent publications in molecular diagnostics and Haematologica’s spotlight review on sequencing innovations. Segmentation insights were derived from an in-depth review of product portfolios, clinical guidelines, and laboratory workflows, ensuring comprehensive coverage across technology, sample type, application, and end user dimensions. Regional dynamics were benchmarked against healthcare expenditure data and regulatory frameworks sourced from global policy databases. To ensure robustness, initial findings underwent critical review by a panel of ten subject-matter experts spanning academic, clinical, and commercial sectors. Data points were cross-verified against company filings, press releases, and independent news reports, yielding a cohesive and actionable executive summary reflective of current industry realities.

Gene fusion testing stands at the nexus of technological innovation, clinical need, and regulatory evolution, offering unparalleled potential to transform patient care across oncology, hematology, and rare disease domains. The convergence of advanced sequencing modalities, computational analytics, and dynamic policy environments underscores a market in flux-one where agility, collaboration, and standardization will define success. Despite headwinds from tariff fluctuations and supply chain complexities, leading companies are forging resilient strategies through onshore investments, strategic alliances, and regulatory engagement. As regional markets mature and adopt more sophisticated diagnostics, stakeholders must remain vigilant to shifting reimbursement landscapes, reimbursement frameworks, and emerging genomic targets. By aligning technological capabilities with clinical imperatives and policy considerations, industry participants can ensure that gene fusion testing not only fulfills its promise of precision medicine but also achieves sustainable growth within a competitive global marketplace.

For a comprehensive understanding of gene fusion testing trends, regulatory developments, and strategic imperatives to guide your next steps, engage with Ketan Rohom, Associate Director of Sales & Marketing. Harness the insights from this report to inform decisions around technology adoption, tariff mitigation, and partnership opportunities across the diagnostic and pharmaceutical landscape. Reach out today to explore tailored packages, gain direct access to detailed data analyses, and accelerate your organization’s competitive advantage in this rapidly evolving field. Your roadmap to strategic growth in gene fusion testing is just one conversation away.