• Cat-intel
  • MedIntelliX
  • Resources
  • About Us
  • Request Free Sample ×

    Kindly complete the form below to receive a free sample of this Report

    Leading companies partner with us for data-driven Insights

    clients tt-cursor
    Hero Background

    Mendelian Disorders Testing Market

    ID: MRFR/LS/4053-HCR
    90 Pages
    Kinjoll Dey
    October 2025

    Mendelian disorders testing market research report: by test type (carrier testing, diagnostic testing, new-born screening), by disorder (cystic fibrosis, sickle cell anemia), by end-user (hospitals, ascs, specialized clinics) – Global forecast till 2035

    Share:
    Download PDF ×

    We do not share your information with anyone. However, we may send you emails based on your report interest from time to time. You may contact us at any time to opt-out.

    Mendelian Disorders Testing Market Infographic
    Purchase Options

    Mendelian Disorders Testing Market Summary

    The Global Mendelian Disorders Testing Market is projected to grow from 0.43 USD Billion in 2024 to 1.23 USD Billion by 2035.

    Key Market Trends & Highlights

    Mendelian Disorders Testing Key Trends and Highlights

    • The market is expected to experience a compound annual growth rate (CAGR) of 10.01% from 2025 to 2035.
    • By 2035, the market valuation is anticipated to reach 1.23 USD Billion, indicating robust growth.
    • In 2024, the market is valued at 0.43 USD Billion, reflecting the increasing demand for genetic testing.
    • Growing adoption of advanced genetic testing technologies due to rising awareness of Mendelian disorders is a major market driver.

    Market Size & Forecast

    2024 Market Size 0.43 (USD Billion)
    2035 Market Size 1.23 (USD Billion)
    CAGR (2025-2035) 10.01%

    Major Players

    Celera Group (U.S.), Abbott Laboratories (U.S.), ELITech Group (France), Quest Diagnostics (U.S.), AutoGenomics (U.S.), PerkinElmer Inc. (U.S.), Roche Diagnostics (Switzerland), Bio-Rad Laboratories, Inc. (U.S.), Applied Biosystems Inc. (U.S.), Transgenomic Inc. (U.S.)

    Mendelian Disorders Testing Market Drivers

    Market Growth Projections

    The Global Mendelian Disorders Testing Market Industry is projected to experience substantial growth in the coming years. The market is expected to expand from a valuation of 0.43 USD Billion in 2024 to approximately 1.23 USD Billion by 2035. This growth trajectory suggests a compound annual growth rate (CAGR) of 10.01% from 2025 to 2035. Such projections indicate a robust demand for genetic testing services, driven by factors such as technological advancements, increased awareness, and the rising prevalence of genetic disorders. These metrics highlight the industry's potential for significant expansion in the global healthcare landscape.

    Rising Prevalence of Genetic Disorders

    The Global Mendelian Disorders Testing Market Industry experiences growth driven by the increasing prevalence of genetic disorders. As awareness of genetic conditions rises, more individuals seek testing for conditions such as cystic fibrosis and sickle cell anemia. In 2024, the market is valued at 0.43 USD Billion, reflecting a growing demand for accurate diagnostic tools. This trend is expected to continue as the global population ages and the incidence of genetic disorders increases. The emphasis on early diagnosis and personalized medicine further propels the need for comprehensive testing solutions, indicating a robust future for the industry.

    Growing Demand for Personalized Medicine

    The shift towards personalized medicine is a crucial driver for the Global Mendelian Disorders Testing Market Industry. As healthcare increasingly focuses on tailored treatment approaches, genetic testing becomes essential for identifying the most effective therapies for individuals with Mendelian disorders. This trend is evident in the rising number of targeted therapies developed based on genetic profiles. The market's growth trajectory, from 0.43 USD Billion in 2024 to an expected 1.23 USD Billion by 2035, reflects the increasing integration of genetic testing in personalized treatment plans, suggesting a promising future for the industry.

    Advancements in Genetic Testing Technologies

    Technological advancements play a pivotal role in shaping the Global Mendelian Disorders Testing Market Industry. Innovations in next-generation sequencing and CRISPR technology enhance the accuracy and efficiency of genetic testing. These advancements enable the identification of a broader range of Mendelian disorders, thus expanding the market's scope. As testing becomes more accessible and affordable, healthcare providers are increasingly adopting these technologies. The anticipated growth from 0.43 USD Billion in 2024 to 1.23 USD Billion by 2035, with a CAGR of 10.01% from 2025 to 2035, underscores the transformative impact of technology on the industry.

    Increased Government Initiatives and Funding

    Government initiatives and funding significantly influence the Global Mendelian Disorders Testing Market Industry. Various governments are investing in genetic research and public health programs aimed at improving genetic disorder detection and management. These initiatives often include funding for research projects and public awareness campaigns that promote genetic testing. Such support not only enhances testing accessibility but also encourages healthcare providers to integrate genetic testing into routine care. The result is a more informed public and a healthcare system better equipped to address genetic disorders, thereby fostering market growth.

    Rising Awareness and Education on Genetic Testing

    Awareness and education regarding genetic testing are vital for the expansion of the Global Mendelian Disorders Testing Market Industry. As healthcare professionals and the public become more informed about the benefits of genetic testing, the demand for these services increases. Educational campaigns and resources provided by healthcare organizations contribute to this awareness, leading to higher testing rates. The growing recognition of the importance of early diagnosis and intervention in managing genetic disorders further supports market growth. This trend indicates a positive outlook for the industry as more individuals seek genetic testing services.

    Market Segment Insights

    Mendelian Disorders Testing Type Insights

    On the basis of the test type, the Mendelian disorders testing market is segmented into carrier testing, diagnostic testing, new-born screening, predictive & pre-symptomatic testing, prenatal testing, and others

    Mendelian Disorders Testing Disorder Type Insights

    On the basis of the disorder type, the mendelian disorders testing market is segmented into cystic fibrosis, sickle cell anemia, severe combined immunodeficiency (SCID), Tay-Sachs disorder, polycystic kidney disorder, Gaucher's disease, Huntington's disease, neurofibromatosis, thalassemia, familial hypercholesterolemia, and others

    Mendelian Disorders Testing End-User Insights

    On the basis of the end user, the mendelian disorders testing market is segmented into hospitals, ambulatory surgical centers (ASCs), and specialized clinics.

    Get more detailed insights about Mendelian Disorders Testing Market Research Report- Global Forecast till 2032

    Key Companies in the Mendelian Disorders Testing Market market include

    Future Outlook

    Mendelian Disorders Testing Market Future Outlook

    The Global Mendelian Disorders Testing Market is projected to grow at a 10.01% CAGR from 2024 to 2035, driven by advancements in genomic technologies and increasing awareness of genetic disorders.

    New opportunities lie in:

    • Develop innovative testing platforms utilizing CRISPR technology for enhanced accuracy.
    • Expand telehealth services for genetic counseling to reach underserved populations.
    • Collaborate with pharmaceutical companies for companion diagnostics in targeted therapies.

    By 2035, the market is expected to achieve substantial growth, reflecting advancements in testing methodologies and increased global demand.

    Market Segmentation

    Intended Audience

    • Description: Mendelian disorders testing Market, Mendelian disorders testing, Mendelian disorders testing Market in Europe, Mendelian disorders testing Market in Asia Pacific, Mendelian disorders testing Market in the Middle East
    • Sources: Annual reports, Press release, White paper, and Company presentation
    • Research Methodology
    • Academic Medical Institutes and Universities
    • Medical Research Laboratories
    • Research and Development (R&D) Companies
    • Mendelian Disorders Test Kit Manufacturers
    • Mendelian Disorders Test Kit Suppliers

    Mendelian Disorders Testing Market Key Players

    • Transgenomic Inc. (U.S.)
    • Applied Biosystems Inc. (U.S.)
    • Bio-Rad Laboratories, Inc. (U.S.)
    • Roche Diagnostics (Switzerland)
    • PerkinElmer Inc. (U.S.)
    • AutoGenomics (U.S.)
    • Quest Diagnostics (U.S.)
    • ELITechGroup (France)
    • Abbott Laboratories (U.S.)
    • Celera Group (U.S.)

    Global Mendelian Disorders Testing Market Overview

    • Description: Mendelian disorders testing Market, Mendelian disorders testing, Mendelian disorders testing Market in Europe, Mendelian disorders testing Market in Asia Pacific, Mendelian disorders testing Market in the Middle East
    • Sources: Annual reports, Press release, White paper, and Company presentation
    • Research Methodology
    • Academic Medical Institutes and Universities
    • Medical Research Laboratories
    • Research and Development (R&D) Companies
    • Mendelian Disorders Test Kit Manufacturers
    • Mendelian Disorders Test Kit Suppliers

    Report Scope

    Report Attribute/Metric Details
    Market Size 2023 0.4 (USD Billion)
    Market Size 2024 0.43 (USD Billion)
    Market Size 2032 0.96 (USD Billion)
    Compound Annual Growth Rate (CAGR) 8.54 % (2024 - 2032)
    Report Coverage Revenue Forecast, Competitive Landscape, Growth Factors, and Trends
    Base Year 2023
    Market Forecast Period 2024 - 2032
    Historical Data 2019 - 2023
      Geographies Covered North America, Europe, Asia-Pacific, and Rest of the World (RoW)
      Key Vendors Celera Group (U.S.), Abbott Laboratories (U.S.), ELITechGroup (France), Quest Diagnostics (U.S.), AutoGenomics (U.S.), PerkinElmer Inc. (U.S.), Roche Diagnostics (Switzerland), Bio-Rad Laboratories, Inc. (U.S.), Applied Biosystems Inc. (U.S.),  Transgenomic Inc. (U.S.),  and others.
      Key Market Opportunities Rising awareness among healthcare professionals and patients about the importance of early and accurate diagnosis of Mendelian disorders is driving demand for testing services.
      Key Market Drivers Growing incidence of inherited genetic disorders drives the demand for early and accurate diagnostic testing.

    Market Highlights

    Author
    Kinjoll Dey
    Research Analyst Level I

    He is an extremely curious individual currently working in Healthcare and Medical Devices Domain. Kinjoll is comfortably versed in data centric research backed by healthcare educational background. He leverages extensive data mining and analytics tools such as Primary and Secondary Research, Statistical Analysis, Machine Learning, Data Modelling. His key role also involves Technical Sales Support, Client Interaction and Project management within the Healthcare team. Lastly, he showcases extensive affinity towards learning new skills and remain fascinated in implementing them.

    Leave a Comment

    FAQs

    At what CAGR is the mendelian disorders testing market projected to grow during the forecast period?

    The mendelian disorders testing market is projected to grow at a 8.54% CAGR between 2024-2032.

    Which region is projected to lead the mendelian disorders testing market?

    The Americas is projected to lead the mendelian disorders testing market.

    Name the major end users of the mendelian disorders testing market.

    Major end users of the mendelian disorders testing market include specialized clinics, ambulatory surgical centers, and hospitals.

    Who are the key players profiled in the mendelian disorders testing market?

    Key players profiled in the mendelian disorders testing market include Transgenomic Inc. (US), Applied Biosystems Inc. (US), Bio-Rad Laboratories, Inc. (US), Roche Diagnostics (Switzerland), PerkinElmer Inc. (US), AutoGenomics (US), Quest Diagnostics (US), ELITechGroup (France), Abbott Laboratories (US), and Celera Group (US).

    What are the strategies adopted by key players to strengthen their position in the mendelian disorders testing market?

    Strategies adopted by key players to strengthen their position in the mendelian disorders testing market include strategic alliances, mergers, partnerships, new product launches, and acquisitions.

    Download Free Sample

    Kindly complete the form below to receive a free sample of this Report

    Case Study
    Chemicals and Materials