Gene Fusion Testing Market - Global Industry Size, Share, Trends, Opportunity, and Forecast, Segmented By Category (Research, Diagnostic), By Technology (Next-Generation Sequencing (NGS), Fluorescence In-Situ Hybridization (FISH), Polymerase Chain Reaction (PCR), Immunohistochemistry (IHC)), By Indication (Solid Tumors, Hematological Malignancies), By End User (Pharmaceutical and Biotechnology Companies, Hospitals and Diagnostic Laboratories, Academic and Research Centers), By Region and Competition, 2021-2031F

Forecast Period	2027-2031
Market Size (2025)	USD 713.68 Million
CAGR (2026-2031)	12.66%
Fastest Growing Segment	Hospitals and Diagnostic Laboratories
Largest Market	North America
Market Size (2031)	USD 1459.22 Million

Market Overview

The Global Gene Fusion Testing Market will grow from USD 713.68 Million in 2025 to USD 1459.22 Million by 2031 at a 12.66% CAGR. Gene fusion testing entails the molecular analysis of biological samples to identify hybrid genes formed by chromosomal rearrangements, which serve as critical biomarkers for selecting targeted tyrosine kinase inhibitor therapies. The expansion of this market is fundamentally driven by the increasing approval of tissue-agnostic drugs and the rising incidence of fusion-positive solid tumors, particularly non-small cell lung cancer. According to the American Cancer Society, in 2025, an estimated 226,650 new cases of lung cancer were projected to be diagnosed in the United States, a statistic that underscores the substantial clinical demand for precise genomic identification to guide therapeutic decisions.

Despite the clear clinical utility, the market encounters a significant challenge regarding the variable reimbursement landscape for comprehensive genomic profiling. Inconsistent insurance coverage policies for broad-panel next-generation sequencing often create financial barriers that limit patient access to these essential diagnostics, thereby impeding the broader commercial scalability of gene fusion testing across diverse healthcare settings.

Key Market Drivers

Technological evolution in next-generation sequencing (NGS) and molecular diagnostics serves as a primary catalyst for the Global Gene Fusion Testing Market, enabling the simultaneous detection of multiple actionable alterations. Modern NGS platforms have transitioned from single-gene assays to comprehensive genomic profiling, significantly enhancing the sensitivity required to identify rare fusion events such as those involving NTRK, ROS1, and ALK genes. Regulatory bodies are increasingly validating these technical advancements to expand clinical utility. According to Foundation Medicine, Inc., January 2025, in the 'U.S. Food and Drug Administration approves FoundationOne CDx as a companion diagnostic' announcement, the FDA granted approval for the test to identify BRAF fusions and rearrangements, directly facilitating access to targeted therapies for pediatric patients. This technical progress is commercially substantiated by major industry players; for instance, according to Illumina, October 2025, in the 'Q3 2025 Financial Results', the company reported quarterly revenue of $1.08 billion, a figure driven by accelerated growth in its clinical sequencing segment.

The rising global incidence of targetable cancer indications further compels the demand for precise gene fusion testing. As the burden of oncological diseases grows, healthcare systems are prioritizing the identification of genomic drivers to optimize treatment efficacy through precision medicine. According to the American Cancer Society, January 2025, in the 'Cancer Statistics, 2025' report, it was projected that a total of 2,041,910 new cancer cases would be diagnosed in the United States, representing a significant patient pool potentially eligible for genomic screening. This increasing prevalence necessitates the widespread deployment of fusion-specific diagnostics to guide the administration of tyrosine kinase inhibitors. Consequently, the correlation between escalating cancer rates and the clinical requirement for biomarker-driven therapy ensures that gene fusion testing remains a critical component of the modern oncological care continuum.

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Key Market Challenges

The variable reimbursement landscape for comprehensive genomic profiling constitutes a primary restraint on the commercial expansion of the global gene fusion testing market. When payers enforce inconsistent coverage policies or deny claims for broad-panel sequencing, clinical laboratories face substantial revenue uncertainty. This financial instability discourages medical facilities from adopting advanced fusion detection assays, as they cannot guarantee a return on the significant operational costs associated with next-generation sequencing. Consequently, healthcare providers often revert to narrower, less expensive testing methods, directly limiting the addressable market volume and impeding the standardization of these diagnostics in routine care.

According to the College of American Pathologists, in 2025, federal fee schedule adjustments resulted in a payment reduction of approximately 2.5 percent for pathology services. This contraction in reimbursement rates exacerbates the economic pressure on diagnostic providers, severely restricting their capacity to absorb the costs of denied claims. As laboratories struggle to maintain profitability amidst these declining payments and unpredictable insurance barriers, the availability of gene fusion testing is curtailed, ultimately stalling the sector's financial growth.

Key Market Trends

The emergence of liquid biopsy for non-invasive fusion detection represents a transformative shift in the market, addressing the critical limitation of tissue availability in conventional biopsies. Unlike solid tumor sampling, which can be invasive and operationally difficult to repeat, plasma-based next-generation sequencing allows for the longitudinal monitoring of fusion status and resistance mechanisms through a simple blood draw. This method is rapidly gaining traction in clinical settings, enabling providers to bypass the logistical hurdles of tissue acquisition while maintaining diagnostic precision. According to Florida Cancer Specialists & Research Institute, June 2025, in the 'FCS Launches Liquid Biopsy' announcement, the organization reported that its centralized laboratory had surpassed more than 16,000 processed molecular tests, a milestone accelerated by the integration of these patient-centric, minimally invasive assay options.

Concurrently, the integration of artificial intelligence for enhanced bioinformatics analysis is revolutionizing the interpretation of complex genomic data, particularly for identifying rare and cryptic gene fusions. As sequencing panels expand, the volume of data generated often overwhelms traditional bioinformatic pipelines, leading to potential false negatives; AI algorithms mitigate this by distinguishing true fusion events from sequencing artifacts with superior accuracy. This technological leap effectively bridges the gap between raw genomic output and actionable clinical insights. According to Gene Solutions Singapore, December 2025, in the 'Bridging Genomic Insights: AI‑Powered Liquid Biopsy and Multi‑Omics' announcement, their proprietary AI-driven platform demonstrated a substantial performance upgrade, specifically improving gene fusion detection rates by 20 percent compared to standard analytical methods.

Segmental Insights

The Hospitals and Diagnostic Laboratories segment is identified as the fastest-growing category in the Global Gene Fusion Testing Market due to the rising adoption of precision medicine within clinical workflows. This expansion is primarily driven by the increasing number of targeted cancer therapies approved by regulatory bodies such as the US FDA, which necessitates accurate companion diagnostic testing for treatment eligibility. Healthcare institutions are actively developing internal testing capabilities to minimize turnaround times and support immediate clinical decision-making. Consequently, the demand for accessible in-house genomic profiling services is accelerating the development of this market segment globally.

Regional Insights

North America maintains a leading position in the Global Gene Fusion Testing Market, driven by the widespread implementation of precision oncology and a robust healthcare infrastructure. The region benefits from significant investments in genomic research and the presence of major diagnostic manufacturers. This leadership is further supported by the U.S. Food and Drug Administration (FDA), which actively approves companion diagnostics for detecting actionable gene fusions. Additionally, initiatives by the National Cancer Institute foster the development of testing methodologies, facilitating their adoption in routine clinical practice for effective patient management.

Recent Developments

• In April 2025, Qiagen launched a new series of QIAseq panels designed for comprehensive genomic profiling at the American Association for Cancer Research (AACR) Annual Meeting. These new research-use-only panels were engineered to analyze over 700 genes, providing enhanced coverage for complex genomic variants including RNA gene fusions. The launch was part of the company's strategy to expand its portfolio of sample-to-insight solutions, facilitating deeper investigation into cancer biology and supporting the development of precision medicine strategies that rely on accurate fusion detection.
• In September 2024, NeoGenomics presented new clinical research data at the European Society for Medical Oncology (ESMO) Congress regarding the detection of actionable biomarkers in solid tumors. The company highlighted a real-world analysis of gene fusions identified through next-generation sequencing in community oncology settings, demonstrating the superior sensitivity of sequencing-based methods over traditional immunohistochemistry. The study emphasized the critical role of advanced fusion testing in identifying patients eligible for matched therapies who might otherwise be missed by conventional testing methods.
• In August 2024, Illumina received approval from the U.S. Food and Drug Administration for its TruSight Oncology Comprehensive test as a companion diagnostic. This approval authorized the use of the test to identify adult and pediatric patients with solid tumors harboring neurotrophic tyrosine receptor kinase (NTRK) gene fusions who may benefit from specific targeted therapies. Additionally, the test was approved to identify non-small cell lung cancer patients with RET gene fusions, marking a significant advancement in the commercial availability of distributable comprehensive genomic profiling kits for fusion detection.
• In March 2024, Thermo Fisher Scientific announced a strategic collaboration with a major pharmaceutical company to develop next-generation sequencing-based companion diagnostics for precision cancer therapies. This partnership focused on leveraging the Ion Torrent Genexus Dx System to create assays capable of detecting comprehensive genomic alterations, including gene fusions, in a rapid, decentralized setting. The initiative aimed to enhance patient access to targeted treatments by enabling the simultaneous analysis of multiple biomarkers, such as deletions, insertions, and fusions, within a single day.

Key Market Players

• Thermo Fisher Scientific Inc.
• Illumina, Inc.
• F. Hoffmann‑La Roche Ltd.
• QIAGEN N.V.
• Amoy Diagnostics Co., Ltd.
• ArcherDX (Integrated DNA Technologies, Inc.)
• Biocartis
• Biocare Medical, LLC
• Guardant Health, Inc.
• Myriad Genetics, Inc.

By Category	By Technology	By Indication	By End User	By Region
Research Diagnostic	Next-Generation Sequencing (NGS) Fluorescence In-Situ Hybridization (FISH) Polymerase Chain Reaction (PCR) Immunohistochemistry (IHC)	Solid Tumors Hematological Malignancies	Pharmaceutical and Biotechnology Companies Hospitals and Diagnostic Laboratories Academic Research Centers	North America Europe Asia Pacific South America Middle East & Africa

Report Scope:

In this report, the Global Gene Fusion Testing Market has been segmented into the following categories, in addition to the industry trends which have also been detailed below:

• Gene Fusion Testing Market, By Category:

• Research
• Diagnostic

• Gene Fusion Testing Market, By Technology:

• Next-Generation Sequencing (NGS)
• Fluorescence In-Situ Hybridization (FISH)
• Polymerase Chain Reaction (PCR)
• Immunohistochemistry (IHC)

• Gene Fusion Testing Market, By Indication:

• Solid Tumors
• Hematological Malignancies

• Gene Fusion Testing Market, By End User:

• Pharmaceutical and Biotechnology Companies
• Hospitals and Diagnostic Laboratories
• Academic
• Research Centers

• Gene Fusion Testing Market, By Region:

• North America
• United States
• Canada
• Mexico
• Europe
• France
• United Kingdom
• Italy
• Germany
• Spain
• Asia Pacific
• China
• India
• Japan
• Australia
• South Korea
• South America
• Brazil
• Argentina
• Colombia
• Middle East & Africa
• South Africa
• Saudi Arabia
• UAE