Genetic Mutation Analysis Market Report 2025

The genetic mutation analysis market size has grown rapidly in recent years. It will grow from $5.94 billion in 2024 to $6.65 billion in 2025 at a compound annual growth rate (CAGR) of 11.9%. The growth during the historic period can be attributed to the rising prevalence of genetic and inherited disorders, increasing awareness of the benefits of personalized medicine, advancements in sequencing technologies, wider adoption of liquid biopsy techniques, and greater integration of AI and big data analytics.

The genetic mutation analysis market size is expected to see rapid growth in the next few years. It will grow to $10.3 billion in 2029 at a compound annual growth rate (CAGR) of 11.5%. The growth in the forecast period is expected to be driven by increasing government initiatives and funding for genomics research, rising demand for early disease detection and preventive testing, expanded access to direct-to-consumer (DTC) genetic testing, growing demand in oncology and infectious disease monitoring, and heightened focus on reproductive and prenatal genomic applications. Key trends anticipated during this period include advancements in sequencing technologies, integration of AI and bioinformatics tools, innovations in rare mutation detection, progress in lab-on-a-chip and microfluidics technologies, and the adoption of accelerated computing.

The increasing prevalence of genetic disorders is expected to drive the growth of the genetic mutation analysis market in the coming years. Genetic disorders result from abnormalities or mutations in an individual’s DNA, which may be inherited or arise spontaneously. One contributing factor to the rising prevalence of these disorders is advanced parental age, which increases the likelihood of genetic mutations during reproduction. Genetic mutation analysis identifies changes in genes that may cause or indicate the presence of genetic disorders, enabling early diagnosis, targeted therapies, and informed reproductive or lifestyle decisions. For example, in October 2024, the Cystic Fibrosis Trust, a UK-based charity supporting people with cystic fibrosis, reported that registered patients increased from 11,148 in 2022 to 11,318 in 2023, reflecting a 1.5% year-over-year rise. This growing prevalence of genetic disorders is thus driving demand for genetic mutation analysis services.

Companies in the genetic mutation analysis market are developing innovative solutions, such as tissue-based next-generation sequencing (NGS) tests, to improve precision in detecting actionable genetic alterations and guide personalized treatments. Tissue-based NGS tests analyze DNA or RNA from tissue samples to identify genetic mutations, alterations, or biomarkers linked to diseases like cancer. For instance, in June 2024, Guardant Health Inc., a US-based oncology company, launched the Guardant360 TissueNext test, which expanded its tumor tissue gene panel to 498 genes. These biomarkers help oncologists determine the most effective targeted therapies for patients with advanced cancer. Along with panel expansion, Guardant improved the test’s workflow to deliver faster results. The Guardant360 TissueNext test will be covered as a standalone service for Medicare fee-for-service patients with advanced solid tumors, based on coverage provided by Palmetto GBA under the Molecular Diagnostics Services (MolDX) program.

In June 2023, Dotmatics Ltd., a US-based scientific informatics software company, acquired SoftGenetics LLC for an undisclosed amount. This acquisition aims to enhance Dotmatics’ genomics and bioinformatics capabilities by integrating SoftGenetics’ advanced genetic analysis tools. The move strengthens Dotmatics’ life sciences R&D platform and expands its presence in precision medicine and genetic research. SoftGenetics LLC, headquartered in the US, specializes in bioinformatics software for mutation detection, sequencing, and forensic applications.

Major players in the genetic mutation analysis market are F. Hoffmann-La Roche Ltd., Thermo Fisher Scientific Inc., Agilent Technologies Inc., Illumina Inc., Revvity Inc., Bio-Rad Laboratories Inc., QIAGEN N.V., Natera Inc., Myriad Genetics Inc., GenScript Biotech Corporation, Takara Bio Inc., 10x Genomics Inc., Oxford Nanopore Technologies Plc, Genomic Health Inc., Color Genomics Inc., Blueprint Medicines Corporation, GENEWIZ Inc., Pacific Biosciences of California Inc., Standard BioTools Inc., Personalis Inc., LGC Biosearch Technologies LLC, and BGI Genomics Co. Ltd.

North America was the largest region in the genetic mutation analysis market in 2024. The regions covered in genetic mutation analysis market report are Asia-Pacific, Western Europe, Eastern Europe, North America, South America, Middle East and Africa. The countries covered in the genetic mutation analysis market report are Australia, Brazil, China, France, Germany, India, Indonesia, Japan, Russia, South Korea, UK, USA, Canada, Italy, Spain.

Note that the outlook for this market is being affected by rapid changes in trade relations and tariffs globally. The report will be updated prior to delivery to reflect the latest status, including revised forecasts and quantified impact analysis. The report’s Recommendations and Conclusions sections will be updated to give strategies for entities dealing with the fast-moving international environment.

The sudden escalation of U.S. tariffs and the consequent trade frictions in spring 2025 are severely impacting the pharmaceutical companies contend with tariffs on APIs, glass vials, and lab equipment inputs with few alternative sources. Generic drug makers, operating on razor-thin margins, are especially vulnerable, with some reducing production of low-profit medicines. Biotech firms face delays in clinical trials due to tariff-related shortages of specialized reagents. In response, the industry is expanding API production in India and Europe, increasing inventory stockpiles, and pushing for trade exemptions for essential medicines.

Genetic mutation analysis involves the study and assessment of changes in an organism’s DNA sequence that alter its genetic code. It is primarily concerned with identifying and characterizing variations such as base substitutions, insertions, deletions, or structural rearrangements within specific genes or genomic regions. The purpose of this process is to evaluate the nature and potential impact of these changes, providing valuable insights into the patterns, diversity, and consequences of genetic alterations.

The core components of genetic mutation analysis include hardware, software, and services. Hardware refers to the laboratory instruments used to extract, amplify, and examine genetic material for mutation detection. A range of technologies is applied in this process, including next-generation sequencing (NGS), polymerase chain reaction (PCR), microarray, Sanger sequencing, and clustered regularly interspaced short palindromic repeats (CRISPR). Genetic mutation analysis is utilized across multiple applications, such as oncology, cardiovascular diseases, neurological disorders, infectious diseases, genetic disorders, and pharmacogenomics. Its primary end users include hospitals and clinics, research institutions, pharmaceutical and biotechnology companies, and diagnostic laboratories.

The genetic mutation analysis market research report is one of a series of new reports that provides genetic mutation analysis market statistics, including the genetic mutation analysis industry global market size, regional shares, competitors with the genetic mutation analysis market share, detailed genetic mutation analysis market segments, market trends, and opportunities, and any further data you may need to thrive in the genetic mutation analysis industry. This genetic mutation analysis market research report delivers a complete perspective of everything you need, with an in-depth analysis of the current and future scenarios of the industry.

The genetic mutation analysis market consists of revenues earned by entities by providing services such as mutation validation, biomarker discovery, genome annotation, structural variation analysis, and epigenetic profiling. The market value includes the value of related goods sold by the service provider or included within the service offering. The genetic mutation analysis market also includes sales of DNA extraction tools, mutation detection assays, sequencing panels, and genomic reference materials. Values in this market are ‘factory gate’ values, that is the value of goods sold by the manufacturers or creators of the goods, whether to other entities (including downstream manufacturers, wholesalers, distributors and retailers) or directly to end customers. The value of goods in this market includes related services sold by the creators of the goods.

The market value is defined as the revenues that enterprises gain from the sale of goods and/or services within the specified market and geography through sales, grants, or donations in terms of the currency (in USD unless otherwise specified).

The revenues for a specified geography are consumption values that are revenues generated by organizations in the specified geography within the market, irrespective of where they are produced. It does not include revenues from resales along the supply chain, either further along the supply chain or as part of other products.

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