Genotyping Assay Market - Global Industry Size, Share, Trends, Opportunity, and Forecast, Segmented By Product & Service (Reagents & Kits, Genotyping Services, Instruments, Sequencers & Amplifiers, Analyzers, Bioinformatics, Software, Services), By Technology (PCR (Real-time PCR, Digital PCR), Microarrays, Sequencing (NGS, Pyrosequencing, Sanger Sequencing), Capillary Electrophoresis (Amplified Fragment Length Polymorphism, Restricted Fragment Length Polymorphism, Single-stranded Conformation Polymorphism), MALDI-TOF, Others), By Application (Pharmacogenomics, Diagnostic & Personalized Medicine, Agricultural Biotechnology, Animal Genetics, Other Applications), By End User(Pharmaceutical and Biopharmaceutical Companies, Diagnostic and Research Laboratories, Academic Institutes, Others), By Region, and By Competition, 2021-2031F

Forecast Period	2027-2031
Market Size (2025)	USD 17.89 Billion
CAGR (2026-2031)	15.12%
Fastest Growing Segment	Capillary Electrophoresis
Largest Market	North America
Market Size (2031)	USD 41.64 Billion

Market Overview

The Global Genotyping Assay Market will grow from USD 17.89 Billion in 2025 to USD 41.64 Billion by 2031 at a 15.12% CAGR. Genotyping assays are analytical solutions designed to determine the specific genetic makeup of an organism by comparing its DNA sequence to a reference standard. The market is expanding significantly, driven by the increasing application of pharmacogenomics and the rising global incidence of genetic diseases that demand targeted therapeutic approaches. This shift towards precision healthcare is substantiated by recent industry data regarding therapeutic approvals. According to the 'Personalized Medicine Coalition', in '2025', 18 new personalized medicines were approved in the preceding year, accounting for approximately 38 percent of all newly approved therapeutic molecular entities.

Conversely, a major impediment to market progress is the increasingly complex regulatory environment governing diagnostic testing. Specifically, the tightening oversight and evolving compliance requirements for Laboratory Developed Tests present a substantial hurdle for clinical laboratories and manufacturers. This regulatory uncertainty creates operational burdens that may delay the introduction of innovative assays and elevate development costs, effectively restraining the rapid scalability of genotyping solutions globally.

Key Market Drivers

Technological advancements in high-throughput sequencing and PCR are fundamentally reshaping the genotyping landscape by enabling laboratories to process vast libraries of genetic data with unprecedented speed and precision. The deployment of next-generation sequencing platforms allows for the simultaneous analysis of multiple genomic regions, which significantly reduces the cost per sample and enhances the scalability of large-scale population studies. This surge in technical capability is evidenced by the rapid uptake of advanced instrumentation across research centers and commercial laboratories. According to Illumina Inc., February 2024, in the 'Fourth Quarter and Full Year 2023 Financial Results', the company reported shipping 352 NovaSeq X instruments during the preceding fiscal year, underscoring the industrial shift toward high-capacity genomic infrastructure. Such hardware proliferation ensures that genotyping services remain accessible for broad applications ranging from basic research to complex clinical diagnostics.

Concurrently, the rising global prevalence of genetic disorders and chronic diseases is necessitating the integration of genotyping into routine clinical workflows and drug discovery pipelines. As the burden of complex pathologies such as cancer intensifies, healthcare providers increasingly rely on genomic profiling to identify biomarkers for targeted therapies and early detection. The scale of this public health challenge is highlighted by recent projections regarding oncological data. According to the American Cancer Society, January 2024, in the 'Cancer Facts & Figures 2024', it is projected that 2,001,140 new cancer cases will occur in the United States in 2024, creating a substantial imperative for precise diagnostic tools. To support the computational demands of analyzing this growing volume of biological data, significant investments are being directed toward biobanking and informatics infrastructure. For instance, according to the Novo Nordisk Foundation, in 2024, the organization committed approximately DKK 600 million to establish a state-of-the-art AI supercomputer aimed at accelerating research in healthcare and life sciences.

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Key Market Challenges

The growth of the Global Genotyping Assay Market is significantly hampered by the increasingly complex regulatory environment governing diagnostic testing, specifically the tightening oversight of Laboratory Developed Tests (LDTs). The regulatory shift to classify these tests as medical devices ends a long period of enforcement discretion, compelling clinical laboratories to navigate rigorous premarket review processes and quality system mandates. This transition imposes immediate operational burdens, forcing laboratories to redirect capital and technical expertise from the innovation of new genotyping assays toward administrative compliance for existing inventories.

The magnitude of this regulatory hurdle directly restricts market scalability by creating a bottleneck for test availability and increasing development costs. The sheer volume of assays requiring retroactive approval creates a substantial resource strain. For instance, according to the 'American Hospital Association', in '2024', one large health system reported managing at least 1,600 existing Laboratory Developed Tests that would require individual regulatory submissions under the new framework. Confronted with such extensive filing demands, laboratories are likely to rationalize their test menus and delay the introduction of advanced genotyping solutions, thereby effectively stalling the market's expansion.

Key Market Trends

The advancement of liquid biopsy genotyping applications is fundamentally reshaping the market by enabling non-invasive, real-time disease monitoring that overcomes the limitations of traditional tissue sampling. This trend is particularly impactful in precision oncology, where liquid biopsies facilitate the longitudinal analysis of circulating tumor DNA to detect emerging resistance mutations and guide dynamic therapeutic adjustments. The shift toward these blood-based assays is substantiated by their growing clinical validation for treatment selection, which allows clinicians to act on evolving genomic profiles rather than static snapshots. Demonstrating the clinical utility of this approach, according to Guardant Health, Inc., June 2025, in the 'SERENA-6 Phase III Trial Demonstrates Clinical Value of Guardant360 CDx Test' press release, the use of the company’s liquid biopsy assay to identify emerging ESR1 mutations and switch therapies reduced the risk of disease progression or death by 56 percent in patients with advanced breast cancer.

Concurrently, the increasing adoption of digital PCR for precision quantification is driving market growth as laboratories seek absolute nucleic acid measurement capabilities that surpass the sensitivity of quantitative PCR. This technology is becoming essential for applications requiring the detection of rare targets, such as viral load monitoring and cell and gene therapy quality control, without the need for reference standards. Manufacturers are responding to this demand by scaling their instrument and assay portfolios to support broader diagnostic workflows. Highlighting this expansion, according to Bio-Rad Laboratories, Inc., July 2025, in the 'Bio-Rad Expands Droplet Digital PCR Offering' press release, the company’s portfolio now includes more than 400,000 assays, significantly enhancing the accessibility of high-precision digital PCR solutions for life science research and clinical diagnostics.

Segmental Insights

Market intelligence identifies Capillary Electrophoresis as the fastest-growing segment in the Global Genotyping Assay Market, primarily driven by its critical function in validating Next-Generation Sequencing results. As the established benchmark for confirming genetic variants, this technology is witnessing increased demand alongside the expansion of genomic research. The segment's growth is further supported by the rising need for precise fragment analysis in forensic and diagnostic sectors, which requires adherence to rigorous standards set by regulatory bodies like the FDA. Additionally, the transition toward automated electrophoresis systems enables laboratories to enhance workflow efficiency, fostering broader market adoption.

Regional Insights

North America holds a leading position in the global genotyping assay market, primarily driven by the extensive application of genomic testing in personalized medicine and pharmaceutical research. The region benefits from the concentration of established biotechnology companies and significant funding for genetic studies. Additionally, supportive government programs from the National Institutes of Health encourage the adoption of genotyping technologies. A clear regulatory pathway provided by the U.S. Food and Drug Administration further supports market stability by ensuring the timely approval and commercialization of new diagnostic assays.

Recent Developments

• In October 2024, Illumina, Inc. unveiled the MiSeq i100 Series, a new line of benchtop sequencing systems designed to simplify and accelerate next-generation sequencing workflows. The platform utilizes XLEAP-SBS chemistry, which features improved stability allowing for room-temperature storage and shipping of reagents, thus reducing the logistical complexity for laboratories. This launch targets small to medium-sized laboratories by offering a streamlined process that can deliver results in as little as four hours. The system supports a wide range of applications, including targeted genotyping panels and microbial sequencing, reinforcing the company’s strategy to make genomic analysis more accessible and efficient for researchers.
• In March 2024, Eurofins Genomics Agrigenomics announced a strategic collaboration with MGI Tech to advance high-throughput genotyping solutions for the agricultural industry. As part of this partnership, the company placed the first corporate order in Europe for the DNBSEQ-T20×2 ultra-high throughput sequencer. The collaboration aims to establish low-pass whole genome sequencing as a cost-effective alternative to traditional microarray-based genotyping for plant and livestock breeding. By leveraging this advanced sequencing technology, the companies intend to provide affordable and scalable services that enable accurate genomic selection and the discovery of structural variations for agricultural researchers and breeders.
• In January 2024, Standard BioTools Inc. completed its merger with SomaLogic, establishing a diversified leader in the life sciences tools sector with a robust portfolio of multi-omics solutions. This strategic combination integrated SomaLogic’s data-driven proteomics technology with Standard BioTools’ established mass cytometry and microfluidics platforms, such as the Biomark X9 System used for high-throughput genotyping. The consolidation was designed to accelerate breakthroughs in human health by providing researchers with comprehensive tools for analyzing both genetic and protein biomarkers. The merged entity aims to leverage operational efficiencies and cross-selling opportunities to strengthen its competitive position in the global genomic and proteomic research markets.
• In January 2024, Thermo Fisher Scientific launched the Axiom PangenomiX Array, which the company described as its most ethnically diverse genotyping array to date. This new product was developed to support population-scale disease studies and pharmacogenomic research by combining SNP genotyping, whole genome copy number variant detection, and HLA typing into a single assay. The array incorporates clinically relevant pharmacogenomic markers and pathogenic variants to provide optimized coverage across diverse human populations. This launch addresses the growing demand for inclusive genomic tools that accurately reflect global genetic diversity, thereby facilitating advancements in precision medicine and drug development workflows.

Key Market Players

• Illumina Inc.
• Thermo Fisher Scientific Inc.
• Qiagen NV
• Agilent Technologies Inc.
• Danaher Corporation
• Hoffmann-La Roche Ltd.
• GE HealthCare Technologies Inc.
• Standard BioTools Inc.
• Eurofins Scientific SE
• Bio-Rad Laboratories Inc.

By Product & Service	By Technology	By Application	By End User	By Region
Reagents & Kits Genotyping Services Instruments Sequencers & Amplifiers Analyzers Bioinformatics Software Services	PCR (Real-time PCR, Digital PCR) Microarrays Sequencing (NGS, Pyrosequencing, Sanger Sequencing) Capillary Electrophoresis (Amplified Fragment Length Polymorphism, Restricted Fragment Length Polymorphism, Single-stranded Conformation Polymorphism) MALDI-TOF Others	Pharmacogenomics Diagnostic & Personalized Medicine Agricultural Biotechnology Animal Genetics Other Applications	Pharmaceutical and Biopharmaceutical Companies Diagnostic and Research Laboratories Academic Institutes Others	North America Europe Asia Pacific South America Middle East & Africa

Report Scope:

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

• Genotyping Assay Market, By Product & Service:

• Reagents & Kits
• Genotyping Services
• Instruments
• Sequencers & Amplifiers
• Analyzers
• Bioinformatics
• Software
• Services

• Genotyping Assay Market, By Technology:

• PCR (Real-time PCR, Digital PCR)
• Microarrays
• Sequencing (NGS, Pyrosequencing, Sanger Sequencing)
• Capillary Electrophoresis (Amplified Fragment Length Polymorphism, Restricted Fragment Length Polymorphism, Single-stranded Conformation Polymorphism)
• MALDI-TOF
• Others

• Genotyping Assay Market, By Application:

• Pharmacogenomics
• Diagnostic & Personalized Medicine
• Agricultural Biotechnology
• Animal Genetics
• Other Applications

• Genotyping Assay Market, By End User:

• Pharmaceutical and Biopharmaceutical Companies
• Diagnostic and Research Laboratories
• Academic Institutes
• Others

• Genotyping Assay 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