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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

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Mendelian Disorders Testing Market Summary

As per MRFR analysis, the Mendelian Disorders Testing Market was estimated at 0.43 USD Billion in 2024. The Mendelian Disorders Testing industry is projected to grow from 0.473 in 2025 to 1.228 by 2035, exhibiting a compound annual growth rate (CAGR) of 10.01 during the forecast period 2025 - 2035.

Key Market Trends & Highlights

The Mendelian Disorders Testing Market is poised for substantial growth driven by technological advancements and increasing awareness.

  • North America remains the largest market for Mendelian disorders testing, driven by robust healthcare infrastructure and high demand for genetic testing.
  • The Asia-Pacific region is emerging as the fastest-growing market, fueled by rising healthcare investments and increasing awareness of genetic disorders.
  • Carrier testing continues to dominate the market, while diagnostic testing is experiencing rapid growth due to advancements in technology.
  • Key market drivers include technological advancements in genetic testing and the rising prevalence of Mendelian disorders, which are propelling demand across various segments.

Market Size & Forecast

2024 Market Size 0.43 (USD Billion)
2035 Market Size 1.228 (USD Billion)
CAGR (2025 - 2035) 10.01%

Major Players

Illumina (US), Thermo Fisher Scientific (US), Agilent Technologies (US), F. Hoffmann-La Roche (CH), PerkinElmer (US), Myriad Genetics (US), Invitae (US), GeneDx (US), Sema4 (US)

Mendelian Disorders Testing Market Trends

The Mendelian Disorders Testing Market is currently experiencing a notable evolution, driven by advancements in genetic research and technology. As understanding of genetic conditions deepens, the demand for accurate and efficient testing methods is increasing. This market encompasses a range of services, including carrier screening, prenatal testing, and diagnostic testing for various Mendelian disorders. The integration of next-generation sequencing technologies is particularly influential, as it enhances the ability to identify genetic mutations with greater precision. Furthermore, the growing awareness of genetic disorders among healthcare providers and patients is likely to propel market growth, as individuals seek proactive measures for health management. In addition, the regulatory landscape surrounding genetic testing is evolving, which may impact the Mendelian Disorders Testing Market. Regulatory bodies are increasingly focusing on ensuring the accuracy and reliability of genetic tests, which could lead to improved standards and practices within the industry. Moreover, collaborations between academic institutions and biotechnology companies are fostering innovation, potentially leading to the development of novel testing methodologies. As the market continues to mature, it appears poised for further expansion, driven by technological advancements and a heightened focus on personalized medicine.

Technological Advancements in Genetic Testing

The Mendelian Disorders Testing Market is witnessing rapid technological progress, particularly with the advent of next-generation sequencing. This innovation allows for comprehensive analysis of genetic material, enabling the identification of mutations associated with various disorders. As these technologies become more accessible, they are likely to enhance the accuracy and efficiency of testing, thereby attracting more patients and healthcare providers.

Increased Awareness and Demand for Genetic Testing

There is a growing recognition of the importance of genetic testing among both healthcare professionals and the general public. This heightened awareness is driving demand for testing services, as individuals seek to understand their genetic predispositions. Consequently, the Mendelian Disorders Testing Market is expected to expand as more people opt for carrier screening and diagnostic testing.

Regulatory Developments and Standardization

The regulatory environment surrounding genetic testing is evolving, with an emphasis on ensuring the reliability and accuracy of tests. Regulatory bodies are likely to implement stricter guidelines, which may lead to improved quality standards in the Mendelian Disorders Testing Market. This focus on standardization could enhance consumer confidence and promote wider adoption of testing services.

Mendelian Disorders Testing Market Drivers

Rising Prevalence of Mendelian Disorders

The increasing prevalence of Mendelian disorders is a critical factor driving the Mendelian Disorders Testing Market. Conditions such as cystic fibrosis, sickle cell disease, and Huntington's disease are becoming more recognized, leading to a greater need for effective diagnostic solutions. Epidemiological studies indicate that approximately 1 in 200 individuals are affected by a Mendelian disorder, underscoring the urgency for comprehensive testing options. As awareness of these conditions grows, so does the demand for genetic testing services that can provide accurate diagnoses and inform treatment decisions. This rising prevalence is likely to stimulate market growth, as healthcare systems strive to address the needs of affected populations.

Regulatory Developments and Standardization

The Mendelian Disorders Testing Market is influenced by evolving regulatory frameworks aimed at ensuring the safety and efficacy of genetic testing. Regulatory bodies are increasingly focusing on standardizing testing procedures and validating the accuracy of results. This is particularly crucial as the market expands, with numerous new testing services entering the landscape. Enhanced regulations not only foster consumer trust but also encourage innovation among testing providers. As a result, companies are investing in compliance and quality assurance measures, which may lead to improved testing outcomes. The establishment of clear guidelines is anticipated to facilitate market growth, as stakeholders navigate the complexities of genetic testing.

Technological Advancements in Genetic Testing

The Mendelian Disorders Testing Market is experiencing a transformative phase due to rapid technological advancements. Innovations such as next-generation sequencing (NGS) and CRISPR gene editing are revolutionizing the landscape of genetic testing. These technologies enable more accurate and efficient identification of genetic mutations associated with Mendelian disorders. For instance, NGS allows for the simultaneous analysis of multiple genes, significantly reducing the time and cost associated with traditional testing methods. As a result, the market is projected to grow at a compound annual growth rate (CAGR) of approximately 12% over the next five years. This growth is driven by the increasing adoption of these advanced technologies in clinical settings, enhancing diagnostic capabilities and patient outcomes.

Increased Awareness and Demand for Genetic Testing

The rising awareness regarding genetic disorders and the benefits of early diagnosis is propelling the Mendelian Disorders Testing Market forward. Educational initiatives and advocacy from healthcare professionals have led to a heightened understanding of genetic testing among the public. This awareness is reflected in the increasing demand for testing services, as individuals seek proactive measures for health management. According to recent surveys, nearly 60% of individuals express interest in genetic testing for hereditary conditions. This trend is likely to continue, as more people recognize the importance of genetic information in making informed healthcare decisions. Consequently, the market is expected to expand, driven by this growing consumer demand.

Integration of Genetic Testing in Clinical Practice

The integration of Mendelian disorders testing into routine clinical practice is a significant driver for the Mendelian Disorders Testing Market. Healthcare providers are increasingly recognizing the value of genetic testing in diagnosing and managing hereditary conditions. This integration is supported by clinical guidelines recommending genetic testing for specific patient populations, thereby enhancing the overall quality of care. As healthcare systems adopt personalized medicine approaches, the demand for genetic testing is expected to rise. Furthermore, the collaboration between genetic testing laboratories and healthcare providers is likely to streamline the testing process, making it more accessible to patients. This trend is indicative of a broader shift towards precision medicine, which is anticipated to bolster market growth.

Market Segment Insights

Mendelian Disorders Testing Market 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 Market 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 Market 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

Regional Insights

North America : Leading Innovation and Research

North America is the largest market for Mendelian disorders testing, accounting for approximately 45% of the global market share. The region's growth is driven by advanced healthcare infrastructure, increasing awareness of genetic disorders, and supportive regulatory frameworks. The demand for personalized medicine and genetic testing is on the rise, further propelled by government initiatives promoting research and development in genomics. The United States is the leading country in this market, with significant contributions from key players such as Illumina, Thermo Fisher Scientific, and Myriad Genetics. The competitive landscape is characterized by continuous innovation and strategic partnerships among these companies. Canada also plays a vital role, with increasing investments in genetic research and testing services, enhancing the overall market dynamics.

Europe : Regulatory Support and Growth

Europe is the second-largest market for Mendelian disorders testing, holding around 30% of the global market share. The region benefits from robust healthcare systems and increasing government support for genetic research. Regulatory bodies are actively promoting the integration of genetic testing into clinical practice, which is driving demand. The European Union's initiatives to standardize genetic testing protocols are also contributing to market growth. Leading countries in this region include Germany, France, and the United Kingdom, where significant investments in healthcare technology are being made. The competitive landscape features major players like F. Hoffmann-La Roche and Agilent Technologies, which are focusing on innovative solutions to enhance testing accuracy. The presence of numerous startups in the genetic testing space is also fostering a dynamic market environment.

Asia-Pacific : Emerging Market Potential

Asia-Pacific is witnessing rapid growth in the Mendelian disorders testing market, accounting for approximately 20% of the global share. The region's growth is fueled by increasing healthcare expenditure, rising awareness of genetic disorders, and advancements in technology. Countries like China and India are leading this growth, driven by government initiatives to enhance healthcare access and promote genetic research. China is the largest market in the region, with significant investments in biotechnology and genetic testing infrastructure. India is also emerging as a key player, with a growing number of diagnostic laboratories offering genetic testing services. The competitive landscape is evolving, with both established companies and new entrants focusing on innovative testing solutions to meet the rising demand.

Middle East and Africa : Untapped Market Opportunities

The Middle East and Africa region is gradually emerging in the Mendelian disorders testing market, holding about 5% of the global share. The growth is driven by increasing awareness of genetic disorders and the need for advanced healthcare solutions. Governments are beginning to recognize the importance of genetic testing, leading to initiatives aimed at improving healthcare infrastructure and access to genetic services. Countries like South Africa and the UAE are at the forefront of this growth, with investments in healthcare technology and genetic research. The competitive landscape is still developing, with a mix of local and international players entering the market. The presence of key players is expected to increase as demand for genetic testing rises, creating new opportunities for growth in the region.

Mendelian Disorders Testing Market Regional Image

Key Companies in the Mendelian Disorders Testing Market market include

Future Outlook

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 research, increasing awareness, and technological innovations.

New opportunities lie in:

  • Development of AI-driven genetic analysis platforms
  • Expansion of telehealth services for remote testing
  • Partnerships with healthcare providers for integrated testing solutions

By 2035, the market is expected to be robust, driven by innovation and strategic partnerships.

Market Segmentation

Mendelian Disorders Testing Market Type Outlook

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

Mendelian Disorders Testing Market End User Outlook

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

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 20240.43(USD Billion)
MARKET SIZE 20250.473(USD Billion)
MARKET SIZE 20351.228(USD Billion)
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 Billion
Key Companies ProfiledMarket analysis in progress
Segments CoveredMarket segmentation analysis in progress
Key Market OpportunitiesAdvancements in genomic technologies enhance accuracy and accessibility in the Mendelian Disorders Testing Market.
Key Market DynamicsRising demand for personalized medicine drives innovation and competition in the Mendelian Disorders Testing market.
Countries CoveredNorth America, Europe, APAC, South America, MEA

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.

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FAQs

What is the current valuation of the Mendelian Disorders Testing Market?

The Mendelian Disorders Testing Market was valued at 0.43 USD Billion in 2024.

What is the projected market size for the Mendelian Disorders Testing Market by 2035?

The market is projected to reach 1.228 USD Billion by 2035.

What is the expected CAGR for the Mendelian Disorders Testing Market during the forecast period?

The expected CAGR for the market from 2025 to 2035 is 10.01%.

Which companies are considered key players in the Mendelian Disorders Testing Market?

Key players include Illumina, Thermo Fisher Scientific, Agilent Technologies, and F. Hoffmann-La Roche.

What are the main segments of the Mendelian Disorders Testing Market?

The main segments include carrier testing, diagnostic testing, newborn screening, and prenatal testing.

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