A quick peek into the report
Table of Contents
1.1Market Outlook
1.1.1Definitions
1.1.2Inclusion and Exclusion Criteria
1.1.3Market Size, 2024-2035 (US$)
1.2Industry Outlook
1.2.1Introduction
1.2.2Market Overview and Ecosystem
1.2.3Funding Scenario
1.2.4Patent Analysis
1.2.4.1By Country
1.2.4.2By Year
1.2.5Regulatory Landscape / Compliances
1.2.5.1Legal Requirement and Framework in U.S.
1.2.5.2Legal Requirement and Framework in E.U.
1.2.5.2.1U.K.
1.2.5.2.2Spain
1.2.5.3Legal Requirement and Framework in Asia-Pacific
1.2.5.3.1Japan
1.2.5.3.2China
1.2.5.3.3India
1.2.5.3.4Taiwan
1.2.5.4Other Key Countries
1.3Market Dynamics
1.3.1Market Opportunities and Trends
1.3.2Market Drivers
1.3.2.1Impact Analysis
1.3.3Market Restraints
1.3.3.1Impact Analysis
2.1Overview
2.2Gastroenterology Disease
2.3Endocrine and Metabolism Disease
2.4Cardiovascular Disease
2.5Neurological Disease
2.6Hematology and Oncology Disease
2.7Dermatological Disease
2.8Others
3.1Overview
3.2Products
3.3Services
4.1Overview
4.2Molecular Genetic Tests
4.3Chromosomal Genetic Tests
4.4Biochemical Genetic Tests
5.1Overview
5.2DNA Sample
5.3Buccal Swab Sample
5.4Blood Sample
5.5Saliva Sample
5.6Others
6.1Overview
6.2Inherited Trait
6.3Acquired Trait
7.1Overview
7.2Polymerase Chain Reaction (PCR)
7.3Next-Generation Sequencing (NGS)
7.3.1Whole Genome Sequencing
7.3.2Whole Exome Sequencing
7.4Microarrays
7.5Sanger Sequencing
7.6Other Technologies
8.1Overview
8.2Prenatal
8.3Neonate and Infant
8.4Children and Adolescent
8.5Adult
9.1Overview
9.2Hospitals
9.3Diagnostic Laboratories
9.4Other End Users
10.1Market Overview
10.1.1North America
10.1.1.1Market Dynamics
10.1.1.1.1Impact Analysis
10.1.1.2North America Rare Disease Genetic Testing Market (by Disease Type)
10.1.1.3North America Rare Disease Genetic Testing Market (by Technology)
10.1.1.4North America Rare Disease Genetic Testing Market (by Country)
10.1.1.5U.S.
10.1.1.5.1Market Dynamics
10.1.1.5.2Market Size and Forecast
10.1.1.5.2.1U.S. Rare Disease Genetic Testing (by Disease Type)
10.1.1.5.2.2U.S. Rare Disease Genetic Testing (by Technology)
10.1.1.6Canada
10.1.1.6.1Market Dynamics
10.1.1.6.2Market Size and Forecast
10.1.1.6.2.1Canada Rare Disease Genetic Testing (by Disease Type)
10.1.1.6.2.2Canada Rare Disease Genetic Testing (by Technology)
10.1.2Europe
10.1.2.1Market Dynamics
10.1.2.1.1Impact Analysis
10.1.2.2Europe Rare Disease Genetic Testing Market (by Disease Type)
10.1.2.3Europe Rare Disease Genetic Testing Market (by Technology)
10.1.2.4Europe Rare Disease Genetic Testing Market (by Country)
10.1.2.5U.K.
10.1.2.5.1Market Dynamics
10.1.2.5.2Market Size and Forecast
10.1.2.5.2.1U.K. Rare Disease Genetic Testing (by Disease Type)
10.1.2.5.2.2U.K. Rare Disease Genetic Testing (by Technology)
10.1.2.6Germany
10.1.2.6.1Market Dynamics
10.1.2.6.2Market Size and Forecast
10.1.2.6.2.1Germany Rare Disease Genetic Testing (by Disease Type)
10.1.2.6.2.2Germany Rare Disease Genetic Testing (by Technology)
10.1.2.7France
10.1.2.7.1Market Dynamics
10.1.2.7.2Market Size and Forecast
10.1.2.7.2.1France Rare Disease Genetic Testing (by Disease Type)
10.1.2.7.2.2France Rare Disease Genetic Testing (by Technology)
10.1.2.8Italy
10.1.2.8.1Market Dynamics
10.1.2.8.2Market Size and Forecast
10.1.2.8.2.1Italy Rare Disease Genetic Testing (by Disease Type)
10.1.2.8.2.2Italy Rare Disease Genetic Testing (by Technology)
10.1.2.9Spain
10.1.2.9.1Market Dynamics
10.1.2.9.2Market Size and Forecast
10.1.2.9.2.1Spain Rare Disease Genetic Testing (by Disease Type)
10.1.2.9.2.2Spain Rare Disease Genetic Testing (by Technology)
10.1.2.10Russia
10.1.2.10.1Market Dynamics
10.1.2.10.2Market Size and Forecast
10.1.2.10.2.1Russia Rare Disease Genetic Testing (by Disease Type)
10.1.2.10.2.2Russia Rare Disease Genetic Testing (by Technology
10.1.2.11Rest-of-Europe
10.1.2.11.1Market Dynamics
10.1.2.11.2Market Size and Forecast
10.1.2.11.2.1Rest-of-Europe Rare Disease Genetic Testing (by Disease Type)
10.1.2.11.2.2Rest-of-Europe Rare Disease Genetic Testing (by Technology)
10.1.3Asia-Pacific
10.1.3.1Market Dynamics
10.1.3.1.1Impact Analysis
10.1.3.2Asia-Pacific Rare Disease Genetic Testing Market (by Disease Type)
10.1.3.3Asia-Pacific Rare Disease Genetic Testing Market (by Technology)
10.1.3.4Asia-Pacific Rare Disease Genetic Testing Market (by Country)
10.1.3.5Japan
10.1.3.5.1Market Dynamics
10.1.3.5.2Market Size and Forecast
10.1.3.5.2.1Japan Rare Disease Genetic Testing (by Disease Type)
10.1.3.5.2.2Japan Rare Disease Genetic Testing (by Technology)
10.1.3.6China
10.1.3.6.1Market Dynamics
10.1.3.6.2Market Size and Forecast
10.1.3.6.2.1China Rare Disease Genetic Testing (by Disease Type)
10.1.3.6.2.2China Rare Disease Genetic Testing (by Technology)
10.1.3.7India
10.1.3.7.1Market Dynamics
10.1.3.7.2Market Size and Forecast
10.1.3.7.2.1India Rare Disease Genetic Testing (by Disease Type)
10.1.3.7.2.2India Rare Disease Genetic Testing (by Technology)
10.1.3.8Australia
10.1.3.8.1Market Dynamics
10.1.3.8.2Market Size and Forecast
10.1.3.8.2.1Australia Rare Disease Genetic Testing (by Disease Type)
10.1.3.8.2.2Australia Rare Disease Genetic Testing (by Technology)
10.1.3.9Singapore
10.1.3.9.1Market Dynamics
10.1.3.9.2Market Size and Forecast
10.1.3.9.2.1Singapore Rare Disease Genetic Testing (by Disease Type)
10.1.3.9.2.2Singapore Rare Disease Genetic Testing (by Technology)
10.1.3.10South Korea
10.1.3.10.1Market Dynamics
10.1.3.10.2Market Size and Forecast
10.1.3.10.2.1South Korea Rare Disease Genetic Testing (by Disease Type)
10.1.3.10.2.2South Korea Rare Disease Genetic Testing (by Technology
10.1.3.11Rest-of-Asia-Pacific
10.1.3.11.1Market Dynamics
10.1.3.11.2Market Size and Forecast
10.1.3.11.2.1Rest-of-Asia-Pacific Rare Disease Genetic Testing (by Disease Type)
10.1.3.11.2.2Rest-of-Asia-Pacific Rare Disease Genetic Testing (by Technology)
10.1.4Latin America
10.1.4.1Market Dynamics
10.1.4.1.1Impact Analysis
10.1.4.2Latin America Rare Disease Genetic Testing Market (by Disease Type)
10.1.4.3Latin America Rare Disease Genetic Testing Market (by Technology)
10.1.4.4Latin America Rare Disease Genetic Testing Market (by Country)
10.1.4.5Brazil
10.1.4.5.1Market Dynamics
10.1.4.5.2Market Size and Forecast
10.1.4.5.2.1Brazil Rare Disease Genetic Testing (by Disease Type)
10.1.4.5.2.2Brazil Rare Disease Genetic Testing (by Technology)
10.1.4.6Mexico
10.1.4.6.1Market Dynamics
10.1.4.6.2Market Size and Forecast
10.1.4.6.2.1Mexico Rare Disease Genetic Testing (by Disease Type)
10.1.4.6.2.2Mexico Rare Disease Genetic Testing (by Technology)
10.1.4.7Rest-of-Latin America
10.1.4.7.1Market Dynamics
10.1.4.7.2Market Size and Forecast
10.1.4.7.2.1Rest-of-Latin America Rare Disease Genetic Testing (by Disease Type)
10.1.4.7.2.2Rest-of-Latin America Disease Genetic Testing (by Technology)
10.1.5Rest-of-the-World
10.1.5.1Market Dynamics
10.1.5.2Market Size and Forecast
10.1.5.2.1.1Rest-of-the-World Rare Disease Genetic Testing (by Disease Type)
10.1.5.2.1.2Rest-of-the-World Rare Disease Genetic Testing (by Technology)
11.1Competitive Benchmarking
11.2Growth Share matrix (2024)
11.2.1By Disease Type
11.2.2By Technology Type
11.3Competitive Landscape
11.3.1Key Strategies and Developments by Company
11.3.1.1Funding Activities
11.3.1.2Mergers and Acquisitions
11.3.1.3Regulatory Approvals
11.3.1.4Partnerships, Collaborations and Business Expansions
11.3.2Key Developments Analysis
11.4Company Profiles
11.4.1 23andMe Inc.
11.4.1.1Company Overview
11.4.1.2Product Portfolio
11.4.1.3Target Customers/End Users
11.4.1.4Analyst View
11.4.2 3 billion, Inc.
11.4.2.1Company Overview
11.4.2.2Product Portfolio
11.4.2.3Target Customers/End Users
11.4.2.4Analyst View
11.4.3Agilent Technologies, Inc.
11.4.3.1Company Overview
11.4.3.2Product Portfolio
11.4.3.3Target Customers/End Users
11.4.3.4Analyst View
11.4.4Azenta U.S., Inc. (GENEWIZ, Inc.)
11.4.4.1Company Overview
11.4.4.2Product Portfolio
11.4.4.3Target Customers/End Users
11.4.4.4Analyst View
11.4.5BGI Group
11.4.5.1Company Overview
11.4.5.2Product Portfolio
11.4.5.3Target Customers/End Users
11.4.5.4Analyst View
11.4.6CENTOGENE N.V.
11.4.6.1Company Overview
11.4.6.2Product Portfolio
11.4.6.3Target Customers/End Users
11.4.6.4Analyst View
11.4.7Exact Sciences Corporation
11.4.7.1Company Overview
11.4.7.2Product Portfolio
11.4.7.3Target Customers/End Users
11.4.7.4Analyst View
11.4.8Eurofins Scientific SE.
11.4.8.1Company Overview
11.4.8.2Product Portfolio
11.4.8.3Target Customers/End Users
11.4.8.4Analyst View
11.4.9GeneDx, Holdings Corp.
11.4.9.1Company Overview
11.4.9.2Product Portfolio
11.4.9.3Target Customers/End Users
11.4.9.4Analyst View
11.4.10Illumina, Inc.
11.4.10.1Company Overview
11.4.10.2Product Portfolio
11.4.10.3Target Customers/End Users
11.4.10.4Analyst View
11.4.11Invitae Corporation
11.4.11.1Company Overview
11.4.11.2Product Portfolio
11.4.11.3Target Customers/End Users
11.4.11.4Analyst View
11.4.12Konica Minolta (Ambry Genetics, Inc.)
11.4.12.1Company Overview
11.4.12.2Product Portfolio
11.4.12.3Target Customers/End Users
11.4.12.4Analyst View
11.4.13Laboratory Corporation of America Holdings
11.4.13.1Company Overview
11.4.13.2Product Portfolio
11.4.13.3Target Customers/End Users
11.4.13.4Analyst View
11.4.14Myriad Genetics, Inc.
11.4.14.1Company Overview
11.4.14.2Product Portfolio
11.4.14.3Target Customers/End Users
11.4.14.4Analyst View
11.4.15PerkinElmer, Inc.
11.4.15.1Company Overview
11.4.15.2Product Portfolio
11.4.15.3Target Customers/End Users
11.4.15.4Analyst View
12.Research Methodology
Table:Rare Disease Genetic Testing Market, Comparative Analysis
Table:Rare Disease Genetic Testing Market, Regulatory Scenario
Table:Rare Disease Genetic Testing Market Dynamics, Impact Analysis
Table:Rare Disease Genetic Testing Market (by Trait Type), $Million, 2023-2035
Table:Rare Disease Genetic Testing Market (by Technology), $Million, 2023-2035
Table:Rare Disease Genetic Testing Market (by Age Group), $Million, 2023-2035
Table:Rare Disease Genetic Testing Market (by End User), $Million, 2023-2035
Figure:Rare Disease Genetic Testing Market, Market Dynamics Impact Analysis
Figure:Rare Disease Genetic Testing Market Coverage
Figure:Rare Disease Genetic Testing Market Key Trends, Impact Analysis, 2025-2035
Figure:Rare Disease Genetic Testing Market, Patent Analysis, January 2022-March 2025
Figure:Rare Disease Genetic Testing Market, Competitive Landscape, January 2022-March 2025
Rare Disease Genetic Testing Market Report Coverage
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Rare Disease Genetic Testing Market |
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Base Year |
2024 |
Forecast Period |
2025-2035 |
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Approximately CAGR During Forecast Period 2025-2035 |
13% |
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How can this report add value to the Organization ?
Product/Innovation Strategy: The global rare disease genetic testing market is comprehensively segmented across multiple categories, including disease type, specialty type, sample type, end-user, and region. This segmentation provides valuable insights into the market landscape, helping readers identify which segments hold the largest market share and which are poised for significant growth in the coming years. Understanding these divisions enables stakeholders to assess trends, target key opportunities, and strategize effectively for advancements in rare disease genetic testing.
Growth/Marketing Strategy: Between January 2021 and June 2023, partnerships, collaborations, product launches, and upgrades dominated key developments in the global rare disease genetic testing market, accounting for approximately 86.2% of total advancements. These strategic initiatives have played a crucial role in driving innovation, expanding diagnostic capabilities, and enhancing accessibility to rare disease genetic testing, positioning the market for continued growth and technological progress.
Competitive Strategy: The global rare disease genetic testing market comprises numerous established players actively expanding their offerings of tests, panels, and assays. Key industry participants analyzed in the study include leading companies that provide specialized disease-specific panels and multiplex instruments, driving advancements in rare disease genetic testing. These players play a crucial role in enhancing diagnostic accuracy, expanding test accessibility, and fostering innovation to support the growing demand for genetic testing solutions.
Methodology
Key Considerations and Assumptions in Market Engineering and Validation
• Detailed secondary research was performed to ensure maximum coverage of manufacturers/suppliers operational in a country.
• Exact revenue information, up to a certain extent, was extracted for each company from secondary sources and databases. The revenues specific to the product/technology were then estimated for each market player based on fact-based proxy indicators as well as primary inputs.
• The scope of the rare disease genetic testing market report has been carefully derived based on interactions with experts in different companies across the world. The rare disease genetic testing market report provides a market study of rare disease genetic testing tests covering kits, panels, and assays.
• The market contribution of the rare disease genetic testing offerings anticipated to be launched in the future has been calculated based on the historical analysis of the offerings. This analysis has been supported by proxy factors such as the innovation scale of the companies, the status of funding, collaborations, customer base, and patent scenario.
• The scope of availability of the offerings in a particular region has been assessed based on a comprehensive analysis of companies’ prospects, the regional end-user perception, and other factors impacting the launch of offerings in that region.
• The base year considered for the calculation of the market size is 2024. A historical year analysis has been done for the period FY2020-FY2023. The market size has been estimated for FY2024 and projected for the period FY2025-FY2035.
• Revenues of the companies have been referenced from their annual reports for FY2022 and FY2023. For private companies, revenues have been estimated based on factors such as inputs obtained from primary research, funding history, product approval status, market collaborations, and operational history.
• Regional distribution of the market revenue has been estimated based on the companies in each region and the adoption rate of the rare disease genetic testing offerings. All the numbers have been adjusted to a single digit after the decimal for better presentation in the report. However, the real figures have been utilized for compound annual growth rate (CAGR) estimation. The CAGR has been calculated for the period 2025-2035.
• The market has been mapped based on the available rare disease genetic testing offerings. All the key companies with significant offerings in this field have been considered and profiled in the rare disease genetic testing market report.
• Market strategies and developments of key players have been considered for the calculation of the potential of the market in the forecast period.
• Patent expiration analysis assumes that the rate of new patent filings would remain the same during the forecast period.
Primary Research:
The primary sources involve industry experts in genomic sequencing, including the market players offering rare disease genetic testing kits/assays and panels and instruments. Resources such as physicians, global sales heads, regional marketing managers, distributors, CXOs, and investors have been interviewed to obtain and verify both qualitative and quantitative aspects of rare disease genetic testing research study.
The key data points taken from the primary sources include:
• validation and triangulation of all the numbers and graphs
• validation of the report’s segmentation and key qualitative findings
• understanding the competitive landscape and business model
• current and proposed production values of a product by market players
• validation of the numbers of the different segments of the market in focus
• percentage split of individual markets for regional analysis
Secondary Research
Open Sources
• National Center for Biotechnology Information (NCBI), U.S. Food and Drug Administration (FDA), World Health Organization (WHO), PubMed, Science Direct
• Canadian Institute of Health Research
• Global Health Data Exchange (GHDx)
• European Medicines Agency
• Annual reports, SEC filings, and investor presentations of the leading market players
• Company websites and detailed study of their portfolios
• Gold standard magazines, journals, whitepapers, press releases, and news articles
• Databases
• National Organization for Rare Disease
• Orpha net
• National Institutes of Health
The key data points taken from the secondary sources include:
• segmentations, split-ups, and percentage shares
• data for market value
• quantitative data for mathematical and statistical calculations
• key industry trends of the top players in the market
• Qualitative insights into the market trends are given in addition to emerging areas of innovation. Quantitative data for mathematical and statistical calculations
Introduction to Rare Disease Genetic Testing Market
Before the advent of next-generation sequencing (NGS), including whole-genome sequencing (WGS) and whole-exome sequencing (WES), physicians primarily relied on Sanger sequencing for rare disease genetic testing. However, this method was highly time-consuming, often leading to delays in diagnosis. Until definitive results were available, physicians had to rely on a general diagnostic approach, which prolonged the treatment process for rare disease patients.
According to BIS Research, the global rare disease genetic testing market includes various panels and tests designed to detect genetic abnormalities associated with rare diseases. These tests primarily consist of polymerase chain reaction (PCR)-based and NGS-based techniques, along with specialized panels and assays. Some of the most used rare disease genetic testing panels focus on conditions related to gastroenterology, endocrinology and metabolism, and neurology.
Cutting-edge technologies such as WGS and WES have revolutionized rare disease genetic testing by providing comprehensive genetic analysis. WGS examines an individual's entire genome, while WES focuses on protein-coding regions, helping identify genetic variations, mutations, or abnormalities responsible for rare diseases. These advanced rare disease genetic testing methods have significantly improved diagnostic accuracy and efficiency, enabling earlier and more precise disease identification, and ultimately enhancing patient outcomes.
Demand – Drivers, Challenges, and Opportunities
Market Demand Drivers:
• Rapid Technological Advancements in Rare Disease Diagnosis: Technological advancements, including next-generation sequencing (NGS), targeted gene panels, and artificial intelligence (AI)-driven algorithms, have significantly enhanced the accuracy of rare disease genetic testing. NGS enables comprehensive genomic analysis, allowing for the precise identification of disease-causing genetic mutations. By uncovering genetic mechanisms and enabling personalized treatment strategies, these innovations are improving patient outcomes, increasing patient satisfaction, and driving market growth. Furthermore, these advancements have led to the emergence of new areas within rare disease genetic testing, opening novel opportunities for research and drug discovery.
• Rising Prevalence of Genetic Disorders and Congenital Disorders: The increasing prevalence of genetic and congenital disorders is a key driver of growth in the global rare disease genetic testing market. The rising demand for diagnostic services, expansion of rare disease genetic testing programs, emphasis on personalized medicine, ongoing research and development initiatives, a supportive regulatory framework, and strong patient advocacy efforts are all contributing to market expansion. Additionally, the growing prevalence of these disorders has led to the expansion of rare disease genetic testing programs, with governments and healthcare organizations implementing newborn screening and prenatal genetic testing initiatives to facilitate early detection and intervention.
• Growing Recognition and Emphasis on Early Detection and Prevention of Rare Diseases in Paediatric Populations: Growing consumer demand for early detection and prevention, along with an increasing focus on personalized medicine and precision healthcare, is expected to drive the expansion of the global rare disease genetic testing market. Factors such as increased awareness and education, patient empowerment, expanded rare disease genetic testing programs, preventive healthcare strategies, supportive policies, and improved insurance coverage are fuelling the demand for diagnostic services. These elements collectively contribute to the rising adoption of rare disease genetic testing, further accelerating market growth.
Market Challenges:
• Lack of Consolidation of Information Leading to Difficulty in Diagnosis: The lack of consolidated information and the resulting challenges in diagnosis present significant obstacles for the global rare disease genetic testing market. Rare diseases often suffer from limited available data, fragmented research findings, and dispersed expertise, making accurate diagnosis more difficult. The vast number of rare diseases, each with distinct symptoms and genetic variations, further complicates efforts to centralize comprehensive knowledge and expertise. This fragmentation hinders advancements in rare disease genetic testing, affecting the efficiency and accessibility of diagnostic solutions.
• Significant Capital Requirement for Research and Development Hindering Global Expansion Efforts: The substantial capital required for research and development (R&D) presents a significant challenge for the global rare disease genetic testing market. Advancements in rare disease genetic testing demand extensive genetic studies, clinical trials, and the development of innovative diagnostic tools and therapies, all of which require considerable financial investment. These efforts involve specialized expertise, advanced laboratory infrastructure, regulatory compliance, and patient recruitment, further escalating costs. The high expenses associated with R&D act as a barrier, particularly for smaller companies and research institutions with limited resources, restricting their ability to pursue comprehensive research in rare disease genetic testing. Additionally, since rare diseases impact a small patient population, the limited commercial market potential for diagnostics and treatments makes it challenging to attract sufficient private investment, further hindering progress in rare disease genetic testing.
Market Opportunities:
• Whole-Genome Sequencing Putting an End to the Rare Disease Diagnostic Odysseys: Whole-genome sequencing (WGS) has the potential to transform rare disease genetic testing by ending prolonged diagnostic odysseys and creating significant opportunities for the global rare disease genetic testing market. This advanced technology enables a comprehensive analysis of an individual's entire genome, offering a detailed view of genetic variations and mutations. By providing a thorough assessment, WGS facilitates the detection of both common and rare genetic variants, including those linked to rare diseases. As a result, WGS is emerging as a powerful tool in rare disease genetic testing, enhancing diagnostic accuracy and expanding market potential.
• AI-Based Diagnostic Tools Diagnosing Rare Diseases by Identifying Potential Diagnoses: AI-based diagnostic tools that leverage machine learning and artificial intelligence (AI) algorithms are creating significant opportunities in the global rare disease genetic testing market by enhancing the accuracy and efficiency of rare disease diagnosis. AI and machine learning are revolutionizing rare disease genetic testing by analyzing vast datasets, recognizing patterns, and generating precise predictions. These technologies enable faster and more accurate identification of genetic mutations associated with rare diseases, improving diagnostic outcomes. As AI-driven solutions continue to advance, they are expected to play a crucial role in expanding the capabilities of rare disease genetic testing, driving market growth, and improving patient care.
• Transitioning toward Increased Genetics Coverage in Reimbursement Policies: The shift toward expanded genetics coverage in reimbursement policies presents a significant opportunity for the global rare disease genetic testing market. Increased coverage enhances access to rare disease genetic testing, promotes early diagnosis and intervention, supports research and development initiatives, and drives innovation in the field. Additionally, it alleviates financial burdens for patients, making rare disease genetic testing more accessible and aligning with the principles of personalized medicine. These factors collectively contribute to higher diagnostic rates and advancements in the management of rare diseases, further strengthening the growth and impact of the rare disease genetic testing market.
Industrial Impact on Rare Disease Genetic Testing Market
The global rare disease genetic testing market has witnessed significant growth, driven by the increasing demand for early detection of rare diseases and the rising prevalence of these conditions. The growing emphasis on early diagnosis and prevention, particularly in paediatric populations worldwide, further contributes to market expansion. Rare disease genetic testing holds immense potential to revolutionize healthcare by enabling advanced diagnostic solutions, improving patient outcomes, and accelerating research efforts. Additionally, factors such as increased patient demand and the reduced turnaround time of rare disease genetic testing continue to drive market growth, making it a crucial component of modern precision medicine.
Market Segmentation of Rare Disease Genetic Testing Market:
Segmentation 1: by Disease Type
- Gastroenterology Disease
- Endocrine and Metabolism Disease
- Cardiovascular Disease
- Neurology Disease
- Hematology and Oncology Disease
- Dermatology Disease
- Other Diseases
Endocrine and Metabolism Disease Segment to Continue its Dominance as the Leading Disease Type
Endocrine and metabolic diseases are highly prevalent in the general population, making their diagnosis and management particularly complex. Diagnosing these conditions often involves rare disease genetic testing, including next-generation sequencing (NGS), along with biomarker analysis, newborn screening, and molecular diagnostic techniques to ensure accurate identification and effective management.
Segmentation 2: Offering
- Products
- Services
Services to Witness the Highest Growth Between 2025 and 2035
Services are uniquely designed to cater to the specific needs of individuals affected by rare diseases, healthcare professionals, and researchers in this field. These services enhance the use of diagnostic products and support comprehensive, personalized rare disease genetic testing, ensuring accurate diagnosis and effective disease management.
Segmentation 3: by Specialty Type
- Molecular Genetic Tests
- Chromosomal Genetic Tests
- Biochemical Tests
Molecular Genetic Test to Continue its Dominance as the Leading Specialty Type
The growing popularity of molecular genetic testing is primarily driven by its ability to provide essential information for genetic counseling and family planning for individuals and families affected by rare diseases. By detecting specific genetic mutations, rare disease genetic testing helps families understand the likelihood of disease inheritance and evaluate the risk of passing the condition to future generations. Additionally, this testing plays a crucial role in identifying genetic disorders in newborns, enabling early intervention and timely treatment initiation for better health outcomes.
Segmentation 4: by Sample Type
- DNA Sample
- Buccal Swab Sample
- Blood Sample
- Saliva Sample
- Others
Blood Sample to Witness the Highest Growth Between 2025 and 2035
Blood samples are processed to isolate various components, including white blood cells, serum, or plasma, which are then analyzed to detect genetic abnormalities, identify biochemical markers, or explore other diagnostic indicators. Rare disease genetic testing utilizes advanced methods such as PCR, DNA sequencing, and microarrays on these blood samples to pinpoint specific genetic mutations associated with rare diseases. These techniques enhance diagnostic accuracy, enabling early detection and informed medical decision-making.
Segmentation 5: by Trait Type
- Inherited Trait
- Acquired Trait
Inherited Trait to Witness the Highest Growth between 2025 and 2035
Inherited traits are genetic characteristics or conditions transmitted from parents to their offspring through DNA. These traits arise from variations or mutations in specific genes, which can elevate the risk of developing certain rare diseases. Rare disease genetic testing plays a crucial role in identifying these inherited mutations, enabling early diagnosis, risk assessment, and informed medical decisions for affected individuals and their families.
Segmentation 6: by Technology
- Sanger Sequencing
- PCR
- NGS
- Microarrays
- Others (Targeted Cytogenetics, Karyotyping, and FISH)
Next-Generation Sequencing (NGS) to Witness the Highest Growth between 2025 and 2035
Next-generation sequencing (NGS) technology offers enhanced sensitivity and specificity in detecting genetic variants, including single-nucleotide variants (SNVs), insertions, deletions, and structural rearrangements. It plays a crucial role in rare disease genetic testing, enabling comprehensive genomic analysis for accurate diagnosis. Additionally, NGS extends its applications to non-invasive prenatal testing, facilitating the detection of fetal chromosomal abnormalities associated with certain rare genetic conditions, thereby supporting early intervention and informed decision-making.
Segmentation 7: by Age Group
- Prenatal
- Neonate and Infant
- Children and Adolescent
- Adult
Prenatal to Witness the Highest Growth between 2025 and 2035
Prenatal testing and diagnostics are essential for identifying potential rare diseases and congenital abnormalities in the foetus. As part of rare disease genetic testing, methods such as chorionic villus sampling (CVS) and amniocentesis are utilized to detect genetic disorders or developmental issues early in pregnancy. These advanced diagnostic techniques enable timely medical intervention, informed decision-making, and improved prenatal care for at-risk pregnancies.
Segmentation 8: by End User
- Hospital
- Diagnostics Laboratories
- Other End Users
Hospitals to Witness the Highest Growth Between 2025 and 2035
Hospitals are at the forefront of integrating syndromic testing panels into routine healthcare practices, significantly enhancing diagnostic capabilities in rare disease genetic testing. Leading healthcare institutions, particularly in North America and Europe, and increasingly in the Asia-Pacific region, have adopted these advanced testing panels and assays to deliver more precise and timely diagnoses. This integration supports improved patient care by enabling comprehensive genetic analysis, facilitating early detection, and guiding targeted treatment strategies.
Segmentation 9: by Region
- North America
- U.S.
- Canada
- Europe
- Germany
- U.K.
- France
- Italy
- Russia
- Spain
- Rest-of-Europe
- Asia-Pacific
- Japan
- India
- China
- South Korea
- Australia
- Singapore
- Rest-of-Asia-Pacific
- Latin America
- Brazil
- Mexico
- Rest-of-Latin America
- Rest-of-the-World
The expansion of the rare disease genetic testing market in China is driven by the high prevalence of rare diseases due to its large population, a progressively favorable policy landscape, and government-led initiatives and partnerships aimed at enhancing collaboration in rare disease diagnosis and treatment. Additionally, countries like India and Australia are expected to experience significant market growth during the forecast period from 2025 to 2035, fuelled by increasing awareness, improved healthcare infrastructure, and advancements in rare disease genetic testing technologies.
Recent Developments in the Rare Disease Genetic Testing Market
- In April 2023, Agilent Technologies, Inc. and Theragen Bio collaborated in South Korea to enhance bioinformatic solutions for cancer genomic profiling, further advancing precision medicine.
- In April 2023, 3billion received accreditation from the California Department of Public Health (CDPH) as a clinical laboratory. With this accreditation, hospitals across California can now utilize 3 billion's rare disease genetic testing services for diagnostics and claim insurance coverage for these tests.
- In February 2023, Akili Labs and BGI Genomics established the first commercial clinical sequencing facility in Africa, strengthening access to rare disease genetic testing and advanced genomic diagnostics in the region.
- In January 2023, Premier Research and CENTOGENE formed a strategic partnership to accelerate and reduce the risk of clinical development for rare diseases, facilitating advancements in rare disease genetic testing and therapeutic research.
- In February 2023, Illumina introduced the first NovaSeq X Plus sequencer and unveiled workflow insights on Illumina Complete Long Reads at the Advances in Genome Biology and Technology (AGBT) conference, supporting advancements in genomic sequencing and rare disease genetic testing.
- In March 2023, Invitae announced a partnership with Epic to streamline rare disease genetic testing through Aura, Epic’s specialty diagnostics suite. This collaboration aims to integrate genetic test results seamlessly into provider workflows, making genetic insights more accessible for informed treatment decisions.
Rare Disease Genetic Testing Market - A Global and Regional Analysis
Focus on Disease Type, Offering, Speciality, Sample Type, Trait Type, Technology, Age Group, End User, and Country Analysis - Analysis and Forecast, 2025-2035
Frequently Asked Questions
Rare disease genetic testing involves the use of advanced diagnostic techniques to identify genetic mutations associated with rare diseases. These tests analyze a patient's genetic material to detect mutations that could lead to conditions such as rare hereditary disorders, genetic syndromes, and other conditions that affect a small proportion of the population. The tests are critical for early diagnosis, personalized treatment plans, and understanding the genetic basis of rare diseases, ultimately improving patient outcomes.
The global rare disease genetic testing market was valued at approximately $XX billion in 2024 and is projected to reach $XX billion by 2035, exhibiting a compound annual growth rate (CAGR) of approximately 13% from 2025 to 2035.
Key trends in the rare disease genetic testing market include advancements in next-generation sequencing (NGS) technologies, which have significantly enhanced the accuracy and speed of genetic testing. The increasing use of whole genome sequencing (WGS) and whole exome sequencing (WES) is also driving the market, as they allow for the identification of genetic mutations that may have previously been undetectable. Additionally, there is a growing trend toward the integration of artificial intelligence (AI) and machine learning (ML) to improve the interpretation of genetic data, enabling better diagnosis and treatment. Rising awareness of rare diseases and the availability of genetic counseling services are further fueling market growth.
Key trends in the rare disease genetic testing market include advancements in next-generation sequencing (NGS) technologies, which have significantly enhanced the accuracy and speed of genetic testing. The increasing use of whole genome sequencing (WGS) and whole exome sequencing (WES) is also driving the market, as they allow for the identification of genetic mutations that may have previously been undetectable. Additionally, there is a growing trend toward the integration of artificial intelligence (AI) and machine learning (ML) to improve the interpretation of genetic data, enabling better diagnosis and treatment. Rising awareness of rare diseases and the availability of genetic counseling services are further fueling market growth.
This report will be useful for diagnostic laboratories, pharmaceutical companies, and healthcare providers focusing on rare diseases. It is also relevant for investors, policymakers, and research organizations looking to understand the dynamics of the rare disease genetic testing market. Furthermore, manufacturers of genetic testing kits and platforms can use this report to make informed decisions regarding market opportunities and product development.