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    US Mendelian Disorders Testing Market

    ID: MRFR/LS/11203-CR
    100 Pages
    Garvit Vyas
    December 2023

    US 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

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    US Mendelian Disorders Testing Market Infographic
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    US Mendelian Disorders Testing Market Summary

    As per MRFR analysis, the US Mendelian Disorders Testing Market Size was estimated at 105.35 USD Million in 2024. The US mendelian disorders-testing market is projected to grow from 115.9 USD Million in 2025 to 300.88 USD Million by 2035, exhibiting a compound annual growth rate (CAGR) of 10.01% during the forecast period 2025 - 2035.

    Key Market Trends & Highlights

    The US Mendelian Disorders Testing Market is experiencing robust growth driven by technological advancements and increasing awareness.

    • Technological advancements in genetic testing are enhancing the accuracy and efficiency of diagnosing mendelian disorders.
    • The largest segment in the market is the prenatal testing segment, while the fastest-growing segment is the carrier screening segment.
    • Increased awareness and demand for genetic counseling are contributing to the market's expansion as more individuals seek personalized healthcare solutions.
    • Rising prevalence of mendelian disorders and advancements in genetic technologies are key drivers propelling market growth.

    Market Size & Forecast

    2024 Market Size 105.35 (USD Million)
    2035 Market Size 300.88 (USD Million)

    Major Players

    Illumina (US), Thermo Fisher Scientific (US), Agilent Technologies (US), Roche (CH), PerkinElmer (US), Myriad Genetics (US), Invitae (US), Fulgent Genetics (US), GeneDx (US)

    US Mendelian Disorders Testing Market Trends

    The mendelian disorders-testing market is currently experiencing notable growth, driven by advancements in genetic testing technologies and an increasing awareness of genetic disorders. As healthcare providers and patients alike recognize the importance of early diagnosis, the demand for comprehensive testing options has surged. This trend is further supported by the integration of genetic counseling services, which help individuals understand their test results and make informed decisions regarding their health. Additionally, the rise of personalized medicine is influencing the landscape, as tailored treatment plans based on genetic profiles become more prevalent. Moreover, regulatory bodies are playing a crucial role in shaping the mendelian disorders-testing market. The establishment of guidelines and standards for genetic testing ensures the reliability and accuracy of results, fostering trust among healthcare professionals and patients. Furthermore, public health initiatives aimed at increasing screening for genetic disorders are likely to enhance market growth. As the understanding of genetics continues to evolve, the mendelian disorders-testing market appears poised for further expansion, with ongoing innovations and a commitment to improving patient outcomes.

    Technological Advancements in Genetic Testing

    Recent innovations in genetic testing technologies are transforming the mendelian disorders-testing market. Next-generation sequencing and other advanced methodologies are enabling more accurate and efficient testing, which may lead to earlier diagnoses and better patient management. These advancements are likely to enhance the overall effectiveness of genetic testing, making it more accessible to a broader population.

    Increased Awareness and Demand for Genetic Counseling

    There is a growing recognition of the importance of genetic counseling in the mendelian disorders-testing market. As patients seek to understand their genetic risks and the implications of their test results, the demand for counseling services is rising. This trend suggests that healthcare providers are increasingly integrating genetic counseling into their practices, thereby improving patient education and support.

    Regulatory Developments and Standardization

    Regulatory bodies are actively shaping the mendelian disorders-testing market through the establishment of guidelines and standards. These developments aim to ensure the accuracy and reliability of genetic tests, which is essential for building trust among healthcare providers and patients. As regulations evolve, they may influence the market dynamics, potentially leading to increased adoption of genetic testing.

    US Mendelian Disorders Testing Market Drivers

    Advancements in Genetic Technologies

    Technological innovations in genetic testing methodologies are significantly influencing the mendelian disorders-testing market. The advent of next-generation sequencing (NGS) and CRISPR technology has revolutionized the way genetic disorders are diagnosed and treated. These advancements allow for more accurate, efficient, and cost-effective testing solutions. For instance, NGS can analyze multiple genes simultaneously, reducing the time and cost associated with traditional testing methods. The market for genetic testing technologies is projected to reach $10 billion by 2026, indicating a robust growth trajectory. As these technologies become more accessible and affordable, the mendelian disorders-testing market is expected to expand, driven by the increasing adoption of advanced testing solutions in clinical settings.

    Growing Public Awareness and Education

    Public awareness and education regarding genetic disorders are pivotal drivers for the mendelian disorders-testing market. As individuals become more informed about the implications of genetic testing, they are more likely to seek testing services. Educational campaigns and initiatives by healthcare organizations have played a significant role in disseminating information about the benefits of genetic testing. Surveys indicate that over 70% of the population is now aware of genetic testing options available for various disorders. This heightened awareness not only encourages individuals to pursue testing but also prompts healthcare providers to offer these services more proactively. Consequently, the mendelian disorders-testing market is likely to benefit from this trend, as increased public knowledge leads to higher demand for testing.

    Rising Prevalence of Mendelian Disorders

    The increasing incidence of mendelian disorders in the US is a crucial driver for the mendelian disorders-testing market. As genetic conditions such as cystic fibrosis, sickle cell anemia, and Huntington's disease become more recognized, the demand for testing services rises. Recent estimates suggest that approximately 1 in 4,000 individuals are affected by cystic fibrosis alone, highlighting the need for effective screening and diagnosis. This growing prevalence necessitates advancements in testing technologies and methodologies, thereby propelling the market forward. Furthermore, as healthcare providers become more aware of these disorders, they are likely to recommend genetic testing more frequently, further stimulating market growth. The mendelian disorders-testing market is thus positioned to expand significantly as awareness and diagnosis of these conditions increase.

    Integration of Genetic Testing in Healthcare

    The integration of genetic testing into routine healthcare practices is transforming the mendelian disorders-testing market. Healthcare providers are increasingly recognizing the value of genetic testing in diagnosing and managing mendelian disorders. This shift is evidenced by the growing number of healthcare institutions adopting genetic testing protocols, which enhances patient care and treatment outcomes. According to recent data, nearly 60% of healthcare providers in the US now incorporate genetic testing into their clinical workflows. This trend not only improves the accuracy of diagnoses but also facilitates personalized treatment plans, thereby increasing the demand for testing services. As genetic testing becomes a standard component of healthcare, the mendelian disorders-testing market is likely to experience substantial growth, driven by the need for comprehensive and effective patient management.

    Regulatory Support and Reimbursement Policies

    Regulatory support and favorable reimbursement policies are essential factors driving the mendelian disorders-testing market. The US government and regulatory bodies have implemented guidelines that facilitate the approval and reimbursement of genetic tests. This support encourages healthcare providers to adopt genetic testing as a standard practice. Recent changes in reimbursement policies have made it easier for patients to access testing services, thereby increasing the market's growth potential. For instance, Medicare and Medicaid have expanded coverage for genetic testing, which has led to a surge in testing rates among eligible populations. As regulatory frameworks continue to evolve in favor of genetic testing, the mendelian disorders-testing market is expected to thrive, driven by improved access and affordability.

    Market Segment Insights

    By Type: Carrier Testing (Largest) vs. Diagnostic Testing (Fastest-Growing)

    In the US mendelian disorders-testing market, carrier testing has established itself as the largest segment, capturing a significant share due to its key role in assessing genetic risks prior to conception. This segment predominantly appeals to couples planning families, ensuring that potential genetic disorders are identified early on. Cross-analysis with other testing types shows that diagnostic testing follows closely, providing critical information for individuals already affected by a condition, further reinforcing the importance of accurate genetic knowledge in this sector. Looking forward, the growth trends indicate that diagnostic testing is the fastest-growing segment, driven by advancements in technology and increasing public awareness of genetic disorders. Furthermore, policy changes promoting screening and testing, coupled with a growing emphasis on personalized medicine, are expected to bolster this expansion. The rising prevalence of genetic disorders is introducing more patients to diagnostic testing, which will ultimately strengthen the market's overall landscape.

    Carrier Testing: Dominant vs. Diagnostic Testing: Emerging

    Carrier testing stands out as a dominant force in the US mendelian disorders-testing market, primarily due to its wide application among prospective parents. This segment offers a clear understanding of the chances of passing on genetic conditions, making it crucial for family planning decisions. On the other hand, diagnostic testing is emerging as a key player, fueled by innovative technologies and a deeper understanding of genetic conditions. It is increasingly being adopted by patients seeking clarity regarding existing health issues, thus driving market growth. Both segments play integral roles, with carrier testing focusing on prevention and diagnostic testing providing immediate insights for those affected.

    By Disorder Type: Cystic Fibrosis (Largest) vs. Sickle Cell Anemia (Fastest-Growing)

    In the US mendelian disorders-testing market, cystic fibrosis remains the largest segment, capturing significant attention from healthcare providers and patients alike due to its severe implications and the need for early diagnosis. Following closely, sickle cell anemia is emerging as a crucial contender, gaining increased focus in testing and research, especially in diverse populations where the prevalence is notable. Overall, the distribution indicates a strong inclination towards disorders that exhibit clear diagnostic criteria and management plans. Growth trends in the US mendelian disorders-testing market are being driven by advancements in genetic testing technologies, increasing awareness about rare genetic diseases, and the rising incidence of disorders such as sickle cell anemia. The fast-growing segment of sickle cell anemia has seen rising support from healthcare initiatives aimed at improving screenings, particularly in affected communities. Additionally, the continuous decline in testing costs and the expansion of insurance coverage for genetic testing are expected to fuel further growth in this segment.

    Cystic Fibrosis: Dominant vs. Sickle Cell Anemia: Emerging

    Cystic fibrosis stands as a dominant disorder type in testing due to its high clinical relevance and the requirement for rapid diagnosis to manage its life-altering effects. The ongoing research and development in treatment therapies contribute to sustaining its prominence in the US mendelian disorders-testing market. On the other hand, sickle cell anemia, characterized by significant morbidity and healthcare burdens, is emerging rapidly as a focus of testing due to an increase in awareness and the necessity for targeted interventions. The implementation of comprehensive screening programs has accelerated its recognition, fostering a growing market that is expected to gain momentum with advancements in diagnostic methodologies and patient care strategies.

    By End User: Hospitals (Largest) vs. Specialized Clinics (Fastest-Growing)

    In the US mendelian disorders-testing market, hospitals dominate the end user segment, accounting for the largest share due to their extensive resources and comprehensive diagnostic facilities. Ambulatory surgical centers (ASCs) also play a significant role, providing pivotal testing services, while specialized clinics carve out a niche with tailored services targeting specific disorders and patient needs. The growth trends in this segment are being driven by an increasing demand for personalized medicine and advancements in genetic testing technologies. Specialized clinics are experiencing the fastest growth as they adapt quickly to new testing methodologies and cater to the unique needs of patients. ASCs are also expanding their capabilities, capitalizing on the shift towards outpatient care, which boosts their market position.

    Hospitals (Dominant) vs. Specialized Clinics (Emerging)

    Hospitals serve as the dominant force within the end user segment, attributed to their capacity to offer a broad spectrum of medical services including extensive diagnostic testing. These institutions benefit from large-scale operations, advanced technology, and skilled personnel, enabling efficient management of complex cases. In contrast, specialized clinics are emerging as key players, focusing on specific mendelian disorders and leveraging their expertise to provide personalized care. Their flexibility and adaptability to new testing methods allow them to respond swiftly to market demands, enhancing their appeal among patients seeking targeted services. This dynamic interplay between hospitals and specialized clinics shapes the overall landscape of the US mendelian disorders-testing market.

    Get more detailed insights about US Mendelian Disorders Testing Market

    Key Players and Competitive Insights

    The mendelian disorders-testing market is characterized by a dynamic competitive landscape, driven by advancements in genetic testing technologies and an increasing demand for personalized medicine. Key players such as Illumina (US), Thermo Fisher Scientific (US), and Myriad Genetics (US) are at the forefront, leveraging innovation and strategic partnerships to enhance their market positions. Illumina (US) focuses on expanding its genomic sequencing capabilities, while Thermo Fisher Scientific (US) emphasizes the integration of advanced analytics into its testing solutions. Myriad Genetics (US) is actively pursuing collaborations to broaden its test offerings, thereby shaping a competitive environment that prioritizes technological advancement and customer-centric solutions.

    In terms of business tactics, companies are increasingly localizing manufacturing and optimizing supply chains to enhance efficiency and responsiveness to market demands. The competitive structure of the market appears moderately fragmented, with several players vying for market share. However, the collective influence of major companies like Roche (CH) and Invitae (US) suggests a trend towards consolidation, as these firms seek to leverage their resources and capabilities to gain a competitive edge.

    In October 2025, Illumina (US) announced a strategic partnership with a leading healthcare provider to enhance access to genetic testing services. This collaboration is expected to facilitate the integration of genomic data into clinical workflows, thereby improving patient outcomes and expanding Illumina's market reach. The strategic importance of this partnership lies in its potential to streamline the testing process and promote the adoption of personalized medicine.

    In September 2025, Myriad Genetics (US) launched a new suite of tests aimed at identifying rare mendelian disorders. This initiative not only diversifies its product portfolio but also positions the company as a leader in the niche market of rare genetic conditions. The launch reflects a strategic focus on addressing unmet medical needs and enhancing patient care through innovative testing solutions.

    In August 2025, Thermo Fisher Scientific (US) unveiled a new digital platform designed to facilitate the analysis of genetic data. This platform aims to integrate artificial intelligence (AI) capabilities, enabling more accurate interpretations of genetic tests. The introduction of this technology underscores the company's commitment to digital transformation and its potential to redefine the landscape of genetic testing.

    As of November 2025, current trends in the mendelian disorders-testing market indicate a strong emphasis on digitalization, sustainability, and AI integration. Strategic alliances are increasingly shaping the competitive landscape, fostering innovation and collaboration among key players. Looking ahead, competitive differentiation is likely to evolve, with a shift from price-based competition to a focus on technological innovation, reliability in supply chains, and the ability to deliver personalized solutions. This evolution suggests that companies will need to continuously adapt and innovate to maintain their competitive positions in a rapidly changing market.

    Key Companies in the US Mendelian Disorders Testing Market market include

    Future Outlook

    US Mendelian Disorders Testing Market Future Outlook

    The mendelian disorders-testing market is projected to grow at a 10.01% CAGR from 2024 to 2035, driven by advancements in genetic technologies and increasing awareness of genetic disorders.

    New opportunities lie in:

    • Development of AI-driven genetic analysis platforms
    • Expansion of direct-to-consumer genetic testing services
    • Partnerships with healthcare providers for integrated testing solutions

    By 2035, the market is expected to achieve substantial growth, reflecting increased demand and innovation.

    Market Segmentation

    US Mendelian Disorders Testing Market Type Outlook

    • carrier testing
    • diagnostic testing
    • new-born screening
    • predictive & pre-symptomatic testing
    • prenatal testing
    • others

    US Mendelian Disorders Testing Market End User Outlook

    • hospitals
    • ambulatory surgical centers (ASCs)
    • specialized clinics

    US Mendelian Disorders Testing Market Disorder Type Outlook

    • 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
    • others

    Report Scope

    MARKET SIZE 2024105.35(USD Million)
    MARKET SIZE 2025115.9(USD Million)
    MARKET SIZE 2035300.88(USD Million)
    COMPOUND ANNUAL GROWTH RATE (CAGR)10.01% (2024 - 2035)
    REPORT COVERAGERevenue Forecast, Competitive Landscape, Growth Factors, and Trends
    BASE YEAR2024
    Market Forecast Period2025 - 2035
    Historical Data2019 - 2024
    Market Forecast UnitsUSD Million
    Key Companies Profiled["Illumina (US)", "Thermo Fisher Scientific (US)", "Agilent Technologies (US)", "Roche (CH)", "PerkinElmer (US)", "Myriad Genetics (US)", "Invitae (US)", "Fulgent Genetics (US)", "GeneDx (US)"]
    Segments CoveredType, Disorder Type, End User
    Key Market OpportunitiesAdvancements in genomic technologies enhance accuracy and accessibility in the mendelian disorders-testing market.
    Key Market DynamicsTechnological advancements and regulatory changes drive growth in the mendelian disorders-testing market.
    Countries CoveredUS

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