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Genetic Mutation Analysis Market Poised to Hit $10.30 Billion by 2029 with Accelerating Growth Trends

09-05-2025 10:21 AM CET | Health & Medicine

Press release from: The Business Research Company

Genetic Mutation Analysis

Genetic Mutation Analysis

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Genetic Mutation Analysis Market Size Growth Forecast: What to Expect by 2025?
The market size of genetic mutation analysis has seen a swift expansion in the past few years. The market, which was valued at $5.94 billion in 2024, is projected to increase to $6.65 billion in 2025, with a compound annual growth rate (CAGR) of 11.9%. Factors contributing to this historical growth include a higher incidence of genetic disorders and inherited diseases, increased understanding of the advantages of personalized medicine, advancements in sequencing technologies, a rise in the utilization of liquid biopsy approaches, and the expanding incorporation of AI and big data analytics.

How Will the Genetic Mutation Analysis Market Size Evolve and Grow by 2029?
The market size for genetic mutation analysis is projected to experience a significant increase in the coming years, expanding to $10.30 billion in 2029 with a compound annual growth rate (CAGR) of 11.5%. The surge in the predicted period is due to factors such as the escalation of government support and funding for genomics studies, the growing need for early illness detection and preventive examinations, the widening reach of direct-to-consumer (DTC) genetic tests, the escalating demand in areas such as oncology and infection disease monitoring, and the increasing emphasis on reproductive and prenatal genomic applications. Dominant tendencies in the prediction period comprise advancements in sequencing technologies, the amalgamation of AI and bioinformatics instruments, technical progress in detecting rare mutations, advancements in lab-on-a-chip and microfluidics, and the integration of expedited computing.

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What Drivers Are Propelling the Growth of Genetic Mutation Analysis Market Forward?
Forecasts indicate that the escalating incidence of genetic diseases is anticipated to stimulate growth in the genetic mutation analysis market. Genetic illnesses are consequences of mutations or irregularities in a person's DNA, which can either be hereditary or occur sporadically. The mounting occurrence of genetic diseases can be partially linked to the advancement in parental age, increasing the possibility of genetic deviations during the procreation process and thereby raising the chances of such disorders in the subsequent generation. Genetic mutation analysis aids in identifying alterations in genes that could lead to or indicate the existence of genetic diseases, allowing for early detection, customised treatments and knowledgeable reproductive or lifestyle choices. For instance, the Cystic Fibrosis Trust, a charity based in the UK that aids cystic fibrosis patients, reported that while 11,148 cystic fibrosis patients were documented in 2022, this number escalated to 11,318 in 2023, demonstrating a year-over-year increase in patient registrations by 1.5%. Consequently, the burgeoning incidence of genetic disorders is propelling the growth of the genetic mutation analysis market.

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What Are the Key Trends Driving Genetic Mutation Analysis Market Growth?
Firms predominantly active in the genetic mutation analysis market are concentrating their efforts on creating innovative solutions, like tissue-based next-generation sequencing (NGS) tests, to improve accuracy in spotting significant genetic alterations and inform personalized treatment methods. These tests are state-of-the-art diagnostic tools that inspect DNA or RNA from a tissue sample to identify any genetic mutations, changes, or biomarkers linked to diseases such as cancer. For example, in June 2024, US-based oncology company Guardant Health Inc. introduced the Guardant360 TissueNext test, which extends the range of genes detected in tumor tissue samples to 498. These genes or cancer biomarkers, grant oncologists the ability to pinpoint the most suitable therapies or treatment plans for patients with advanced cancer. Besides expanding the panel, Guardant has optimized the test's operational process to ensure quicker results. The Guardant360 TissueNext test will now be available for advanced solid tumor cancer patients covered under Medicare's fee-for-service, based on the coverage provided by Palmetto GBA, a Medicare administrative contractor for the Molecular Diagnostics Services program (MolDX), according to the current local coverage determination.

What Are the Key Segments in the Genetic Mutation Analysis Market?
The genetic mutation analysis market covered in this report is segmented

1) By Component: Hardware, Software, Services
2) By Technology: Next-Generation Sequencing (NGS), Polymerase Chain Reaction (PCR), Microarray, Sanger Sequencing, Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)
3) By Application: Oncology, Cardiovascular Diseases, Neurological Disorders, Infectious Diseases, Genetic Disorders, Pharmacogenomics
4) By End User: Hospitals And Clinics, Research Institutes, Pharmaceutical And Biotechnology Companies, Diagnostic Laboratories

Subsegment:
1) By Hardware: Sequencers, Polymerase Chain Reaction (PCR) Machines, Microarray Instruments, Electrophoresis Systems, Imaging Systems
2) By Software: Data Analysis Software, Sequence Alignment Tools, Variant Calling Software, Genome Annotation Software, Visualization Tools
3) By Services: Genetic Testing Services, Data Interpretation Services, Bioinformatics Services, Sample Preparation Services, Clinical Reporting Services

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Who Are the Key Players Shaping the Genetic Mutation Analysis Market's Competitive Landscape?
Major companies operating 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.

What Geographic Markets Are Powering Growth in the Genetic Mutation Analysis Market?
North America was the largest region in the genetic mutation analysis market in 2024. The regions covered in the genetic mutation analysis market report are Asia-Pacific, Western Europe, Eastern Europe, North America, South America, Middle East, Africa.

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