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PUBLISHER: BIS Research | PRODUCT CODE: 1331030

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PUBLISHER: BIS Research | PRODUCT CODE: 1331030

Rare Disease Genetic Testing Market - A Global and Regional Analysis: Focus on Disease Type, Offering, Specialty Type, Sample Type, Trait Type, Technology, Age Group, End User, and Country Analysis - Analysis and Forecast, 2023-2033

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“Global Rare Disease Genetic Testing Market to Reach $16.69 Billion by 2033.”

Introduction of Rare Disease Genetic Testing

The global rare disease genetic testing market was valued at $4.11 billion in 2022 and is anticipated to reach $16.69 billion by 2033, witnessing a CAGR of 13.69% during the forecast period 2023-2033. Cutting-edge technologies, such as whole-genome sequencing (WGS) and whole-exome sequencing (WES), involve the analysis of an individual's complete genetic code (genome) or specific protein-coding regions (exome), respectively. These methods help identify genetic variations, mutations, or abnormalities responsible for rare diseases.

KEY MARKET STATISTICS
Forecast Period2023 - 2033
2023 Evaluation$4.63 Billion
2033 Forecast$16.69 Billion
CAGR13.69%

Market Introduction

Before the advent of NGS (which includes WGS and WES), physicians relied on the Sanger sequencing-based tests, which could detect rare diseases but were extremely time-consuming. Additionally, till all the tests were completed, physicians had to rely on a general diagnostic odyssey or general diagnosis until definitive results were available. This delayed the treatment process. As per BIS Research, the global rare disease genetic testing market includes panels and tests that can be used for more rare disease genetic testing. These are predominantly polymerase chain reaction (PCR) and next-generation sequencing (NGS) based tests, panels, and assays. The most common rare disease genetic testing panels include gastroenterology, endocrine and metabolism, and neurology disease, among others.

Industrial Impact

The global rare disease genetic testing market has witnessed significant growth, attributed to the increasing demand for early detection of rare diseases. The increasing prevalence of rare diseases has played a critical role in market growth. Furthermore, growing recognition and emphasis on early detection and prevention of rare diseases in pediatric populations around the world are also expected to influence market growth.

Rare disease genetic testing has immense potential to deliver next-level healthcare solutions. For instance, in January 2023, BGI Genomics, in collaboration with the National Centre for Cardiovascular Diseases, Fuwai Hospital, and the State Key Laboratory of Cardiovascular Diseases, developed the "CardioGen automated interpretation system," which serves as the genotype and phenotype database of monogenic cardiovascular disease. Other factors also impact the market growth, including increased patient demand and low turnaround time of these tests.

Market Segmentation:

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 Dominate the Global Rare Disease Genetic Testing Market (by Disease Type)

Based on disease type, the rare disease genetic testing market is led by endocrine and metabolism, which held a 21.88% share in 2022. The burden of endocrine and metabolism diseases often has a high prevalence in the general population, making their diagnosis and management particularly challenging. Their diagnosis addresses genetic testing such as NGS. Further, it also includes biomarker analysis, newborn screening, and molecular diagnostic techniques.

Segmentation 2: Offering

  • Products
  • Services

Services Segment to Dominate the Global Rare Disease Genetic Testing Market (by Offering)

Based on offerings, the rare disease genetic testing market is led by services, which held an 81.58% share in 2022. Services are specifically tailored to meet the distinct requirements of individuals affected by rare diseases, healthcare professionals, and researchers engaged in this field. The availability of these services complements the use of diagnostic products and facilitates comprehensive and personalized rare disease genetic testing.

Segmentation 3: by Specialty Type

  • Molecular Genetic Tests
  • Chromosomal Genetic Tests
  • Biochemical Genetic Tests

Molecular Genetic Tests Occupying the Largest Share in the Market (by Specialty Type)

Based on specialty type, the rare disease genetic testing market is led by molecular genetic tests, which held a 58.89% share in 2022. The key reason for the increasing popularity of molecular genetic testing is that it provides crucial information for genetic counseling and family planning for individuals and families affected by rare diseases. By identifying specific genetic mutations, families can gain insights into the likelihood of disease inheritance and assess the risk of passing on the condition to future generations. This type of testing is utilized to identify genetic disorders in newborns, allowing for prompt intervention and treatment initiation.

Segmentation 4: by Sample Type

  • DNA Sample
  • Buccal Swab Sample
  • Blood Sample
  • Saliva Sample
  • Others

Blood Sample to Witness the Highest Growth Between 2023 and 2033

Based on sample type, the rare disease genetic testing market is led by blood samples, and it held a 33.99% share in 2022. Blood samples undergo processing to isolate different components, including white blood cells, serum, or plasma. These isolated components are then subjected to further analysis to detect genetic abnormalities, identify biochemical markers, or explore other diagnostic indicators. Genetic testing methods such as PCR, DNA sequencing, and microarrays can be employed on blood samples to identify specific genetic mutations that are associated with rare diseases.

Segmentation 5: by Trait Type

  • Inherited Trait
  • Acquired Trait

Inherited Trait to Witness the Highest Growth between 2023 and 2033

Based on trait type, the rare disease genetic testing market is led by inherited traits, which held an 82.59% share in 2022. Inherited traits are characteristics or conditions that are passed down from parents to their offspring through genetic material, i.e., DNA. These traits result from variations or mutations in the genes and can increase the risk of developing certain rare diseases.

Segmentation 6: by Technology

  • Sanger Sequencing
  • PCR
  • NGS
  • Microarrays
  • Others (Targeted Cytogenetics, Karyotyping, and FISH)

NGS to Dominate the Global Rare Disease Genetic Testing Market (by Technology)

Based on technology, the rare disease genetic testing market is led by next-generation sequencing (NGS), and it held a 43.80% share in 2022. NGS technology provides higher sensitivity and specificity in detecting genetic variants, including single-nucleotide variants (SNVs), insertions, deletions, and structural rearrangements. This technology also extends its applications to non-invasive prenatal testing, including the detection of fetal chromosomal abnormalities associated with certain rare genetic conditions.

Segmentation 7: by Age Group

  • Prenatal
  • Neonate and Infant
  • Children and Adolescent
  • Adult

Prenatal to Witness the Highest Growth between 2023 and 2033

Based on age group, the rare disease genetic testing market is led by the prenatal age group, which held a 39.68% share in 2022. Prenatal testing and diagnostics play a crucial role in identifying potential rare diseases and congenital abnormalities in the fetus. Prenatal testing methods such as chorionic villus sampling (CVS) and amniocentesis are employed to detect genetic disorders or developmental issues.

Segmentation 8: by End User

  • Hospital
  • Diagnostics Laboratories
  • Other End Users

Hospitals to Dominate the Global Rare Disease Genetic Testing Market (by End User)

Based on end users, the rare disease genetic testing market is led by hospitals, which recorded a 53.12% share in 2022. Hospitals are at the forefront of adopting syndromic testing panels into routine healthcare procedures. Hospitals, particularly in leading regions such as North America and Europe, and also to a certain extent in Asia-Pacific, have incorporated syndromic testing panels and assays to provide superior care to patients.

Segmentation 9: by Region

  • North America - U.S., Canada
  • Europe - Germany, U.K., France, Italy, Russia, Spain, and Rest-of-Europe
  • Asia-Pacific - Japan, India, China, South Korea, Australia, Singapore, and Rest-of-Asia-Pacific
  • Latin America - Brazil, Mexico, and Rest-of-Latin America
  • Rest-of-the-World

Regions such as North America and Europe have technologically advanced industries and allocate considerable budgets to research and development (R&D) activities. Moreover, a maximum number of rare disease testing is done there, due to which these regions hold the maximum share in the global rare disease genetic testing market.

Recent Developments in the Rare Disease Genetic Testing Market

  • In April 2023, Agilent Technologies, Inc. and Theragen Bio collaborated in South Korea to advance bioinformatic solutions for cancer genomic profiling.
  • In April 2023, 3 billion receives accreditation from the California Department of Public Health (CDPH) as a clinical laboratory. With the CDPH accreditation, hospitals throughout California will now be able to utilize 3 billion's genetic tests for diagnostic purposes and can claim insurance for the tests.
  • In February 2023, Akili Labs and BGI Genomics established the first commercial clinical sequencing facility in Africa.
  • In January 2023, Premier Research and CENTOGENE formed a strategic partnership to hasten and reduce the risk of clinical development for rare diseases.
  • In February 2023, Illumina delivers the first NovaSeq X Plus sequencer and workflow insights on Illumina Complete Long Reads unveiled at Advances in Genome Biology and Technology (AGBT).
  • In March 2023, Invitae Announces Partnership with Epic to Streamline Genetic Testing. Through Aura, Epic's specialty diagnostics suite, Invitae will streamline interactions with provider organizations in the Epic community, making test result information available in providers' usual workflows so that it's easier to use genetic insights to inform treatment decisions.

Demand - Drivers, Challenges, and Opportunities

Market Demand Drivers:

  • Rapid Technological Advancements in Rare Disease Diagnosis: Technological advancements, such as next-generation sequencing (NGS), targeted gene panels, and artificial intelligence (AI)-based algorithms, have significantly improved diagnostic accuracy for rare diseases. NGS enables comprehensive genomic analysis, allowing for the identification of disease-causing genetic mutations with higher precision. By identifying the underlying genetic mechanisms and individualizing treatment plans, technological advancements are improving patient outcomes, patient satisfaction, and overall market growth. These advancements have also led to the emergence of new areas of rare disease genetic testing, which have opened up new avenues for research and drug discovery.
  • Rising Prevalence of Genetic Disorders and Congenital Disorders: The rising prevalence of genetic disorders and congenital disorders has a significant impact on the growth of the global rare disease genetic testing market. Increased demand for diagnostic services, expansion of screening programs, focus on personalized medicine, research and development initiatives, supportive regulatory environment, and patient advocacy all contribute to the expanding market. Furthermore, the rising prevalence led to an expansion of screening programs. Governments and healthcare organizations are implementing newborn screening programs and prenatal genetic testing initiatives to identify these disorders early.
  • Growing Recognition and Emphasis on Early Detection and Prevention of Rare Diseases in Paediatric Populations: Increased consumer demand for early detection and prevention, coupled with a focus on personalized medicine and precision healthcare, is expected to fuel the growth of the global rare disease market. Awareness and education, patient empowerment, expanded screening programs, preventive healthcare strategies, supportive policies, and insurance coverage are all contributing to the expansion of diagnostic services and driving market demand for rare disease genetic testing.

Market Challenges:

  • Lack of Consolidation of Information Leading to Difficulty in Diagnosis: The lack of consolidation of information and the resulting difficulty in diagnosis poses significant challenges for the global rare disease genetic testing market. Rare diseases often have limited available information, fragmented research findings, and scattered expertise. The vast number of rare diseases, each with its unique set of symptoms and genetic variations, makes it challenging to consolidate comprehensive knowledge and expertise in a centralized manner.
  • Significant Capital Requirement for Research and Development Hindering Global Expansion Efforts: The significant capital requirement for research and development (R&D) poses a notable challenge for the global rare disease genetic testing market. Research and development in the field of rare diseases often involve extensive genetic studies, clinical trials, and the development of innovative diagnostic tools and therapies. These activities require substantial financial investment, as they involve specialized expertise, laboratory infrastructure, regulatory compliance, and patient recruitment. The high costs associated with R&D act as a barrier, particularly for smaller companies and research institutions with limited resources, hindering their ability to undertake comprehensive research and development efforts. Rare diseases, by definition, affect a small patient population. Hence, the limited commercial market potential for treatments and diagnostics creates challenges in attracting sufficient private investment.

Market Opportunities:

  • Whole-Genome Sequencing Putting an End to the Rare Disease Diagnostic Odysseys: Whole-genome sequencing (WGS) has the potential to put an end to rare disease genetic testing odysseys and presents significant opportunities for the global rare disease genetic testing market. This technology enables a comprehensive analysis of an individual's entire genome, providing a comprehensive view of the genetic variations and mutations. This approach allows for the detection of both common and rare genetic variants, including those associated with rare diseases.
  • AI-Based Diagnostic Tools Diagnosing Rare Diseases by Identifying Potential Diagnoses: AI-based diagnostic tools that utilize machine learning and artificial intelligence algorithms present significant opportunities for the global rare disease market by improving the diagnosis of rare diseases. Artificial intelligence (AI) and machine learning algorithms are revolutionizing rare disease genetic testing by analyzing large datasets, identifying patterns, and making accurate predictions. For instance, in July 2021, Sema4, the parent organization of GeneDx, successfully concluded a transaction with CM Life Sciences, marking its debut as a publicly traded company. The company now operates as an AI-driven genomics and clinical data platform company.
  • Transitioning toward Increased Genetics Coverage in Reimbursement Policies: Transitioning toward increased genetics coverage in reimbursement policies presents a valuable opportunity for the global rare disease genetic testing market. It improves access to genetic testing, encourages early diagnosis and intervention, supports research and development efforts, stimulates innovation, reduces financial burdens for patients, and aligns with the principles of personalized medicine. These factors collectively contribute to improved diagnostic rates and advancements in rare disease management.

How Can This Report Add Value to an Organization?

  • Product/Innovation Strategy: The global rare disease genetic testing market has been extensively segmented on the basis of various categories, such as disease type, specialty type, sample type, end-user, and region. This can help readers understand which segments account for the largest share and which are well-positioned to grow in the coming years.
  • Growth/Marketing Strategy: Partnerships, collaborations, product launches, and upgrades accounted for the maximum number of key developments, i.e., nearly 86.2% of the total developments in the global rare disease genetic testing market were between January 2021 and June 2023.
  • Competitive Strategy: The global rare disease genetic testing market has numerous established players paving their way into providing tests, panels, and assays in the market. Key players in the global rare disease genetic testing market analyzed and profiled in the study involve established players offering various disease-specific panels and multiplex instruments.

Key Market Players and Competition Synopsis

The companies that are profiled have been selected based on inputs gathered from primary experts and analyzing company coverage, product portfolio, and market penetration.

Key Companies Profiled:

  • 23andMe Holding Co.
  • 3billion, Inc.
  • Agilent Technologies, Inc.
  • Konica Minolta (Ambry Genetics, Inc.)
  • BGI Group
  • CENTOGENE N.V.
  • Eurofins Scientific SE
  • GeneDx, Holdings Corp.
  • Azenta U.S., Inc. (GENEWIZ, Inc.)
  • Illumina, Inc.
  • Invitae Corporation
  • Laboratory Corporation of America Holdings
  • Medgenome
  • Myriad Genetics, Inc.
  • OPKO Health, Inc.
  • PerkinElmer, Inc.
  • Exact Sciences Corporation (Prevention Genetics)
  • QIAGEN N.V.
  • Quest Diagnostics Incorporated
  • Strand Life Science Pvt Ltd.
Product Code: BHP0644SC

Table of Contents

1 Market

  • 1.1 Global Market Outlook
    • 1.1.1 Product Definition
    • 1.1.2 Inclusion and Exclusion Criteria
      • 1.1.2.1 Inclusion Criteria
      • 1.1.2.2 Exclusion Criteria
    • 1.1.3 Market Overview
      • 1.1.3.1 Market Footprint
      • 1.1.3.2 Market Size and Future Growth Potential
    • 1.1.4 COVID-19 Impact on the Market
      • 1.1.4.1 Impact on Research and Clinical Operations
      • 1.1.4.2 COVID-19 Impact: Current Scenario of the Market
  • 1.2 Industry Analysis
    • 1.2.1 Regulatory Framework
      • 1.2.1.1 Legal Requirements and Framework in the U.S.
      • 1.2.1.2 Legal Requirements and Framework in Europe
        • 1.2.1.2.1 U.K.
        • 1.2.1.2.2 Spain
      • 1.2.1.3 Legal Requirements and Framework in Asia-Pacific
        • 1.2.1.3.1 Japan
        • 1.2.1.3.2 China
        • 1.2.1.3.3 India
        • 1.2.1.3.4 Taiwan
    • 1.2.2 Patent Analysis
      • 1.2.2.1 Patent Filing Trend (by Country)
      • 1.2.2.2 Patent Filing Trend (by Year)
    • 1.2.3 Funding Scenario
  • 1.3 Market Dynamics
    • 1.3.1 Overview
    • 1.3.2 Market Drivers
      • 1.3.2.1 Rapid Technological Advancements in Rare Disease Diagnosis
      • 1.3.2.2 Rising Prevalence of Genetic Disorders and Congenital Disorders
      • 1.3.2.3 Growing Recognition and Emphasis on Early Detection and Prevention of Rare Diseases in Pediatric Populations
    • 1.3.3 Market Challenges
      • 1.3.3.1 Lack of Consolidation of Information Leading to Difficulty in Diagnosis
      • 1.3.3.2 Significant Capital Requirement for Research and Development Hindering Global Expansion Efforts
    • 1.3.4 Market Opportunities
      • 1.3.4.1 Whole Genome Sequencing Putting an End to the Rare Disease Genetic Testing Odysseys
      • 1.3.4.2 AI-Based Diagnostic Tools Diagnosing Rare Diseases by Identifying Potential Diagnoses
      • 1.3.4.3 Transitioning toward Increased Genetics Coverage in Reimbursement Policies

2 Competitive Insights

  • 2.1 Competitive Benchmarking
    • 2.1.1 Key Strategies and Developments
      • 2.1.1.1 Funding Activities
      • 2.1.1.2 New Offerings, Product Upgradation, and Approvals
      • 2.1.1.3 Mergers and Acquisitions
      • 2.1.1.4 Partnerships, Collaborations, And Business Expansion
    • 2.1.2 Market Share Analysis
      • 2.1.2.1 Rare Disease Genetic Testing Market, Market Share Analysis of Companies Offering Products
      • 2.1.2.2 Rare Disease Genetic Testing Market, Market Share Analysis of Companies Offering Services.
    • 2.1.3 Growth-Share Analysis
      • 2.1.3.1 By Disease Type
      • 2.1.3.2 By Technology Type

3 Global Rare Disease Genetic Testing Market (by disease type), 2022-2033

  • 3.1 Overview
  • 3.2 Gastroenterology Disease
  • 3.3 Endocrine and Metabolism Disease
  • 3.4 Cardiovascular Disease
  • 3.5 Neurology Disease
  • 3.6 Hematology and Oncology Disease
  • 3.7 Dermatology Disease
  • 3.8 Other Diseases

4 Global Rare Disease Genetic Testing Market (by Offering), 2022-2033

  • 4.1 Overview
  • 4.2 Products
  • 4.3 Services

5 Global Rare Disease Genetic Testing Market (by Specialty Type), 2022-2033

  • 5.1 Overview
  • 5.2 Molecular Genetic Tests
  • 5.3 Chromosomal Genetic Tests
  • 5.4 Biochemical Genetic Tests

6 Global Rare Disease Genetic Testing Market (by Sample Type), 2022-2033

  • 6.1 Overview
  • 6.2 DNA Sample
  • 6.3 Buccal Swab Sample
  • 6.4 Blood Sample
  • 6.5 Saliva Sample
  • 6.6 Others

7 Global Rare Disease Genetic Testing Market (by Trait Type), 2022-2033

  • 7.1 Overview
  • 7.2 Inherited Trait
  • 7.3 Acquired Trait

8 Global Rare Disease Genetic Testing Market (by Technology), 2022-2033

  • 8.1 Overview
  • 8.2 Polymerase Chain Reaction (PCR)
  • 8.3 Next-Generation Sequencing (NGS)
    • 8.3.1 Whole Genome Sequencing
    • 8.3.2 Whole Exome Sequencing
  • 8.4 Microarrays
  • 8.5 Sanger Sequencing
  • 8.6 Other Technologies

9 Global Rare Disease Genetic Testing Market (by Age Group), 2022-2033

  • 9.1 Overview
  • 9.2 Prenatal
  • 9.3 Neonate and Infant
  • 9.4 Children and Adolescent
  • 9.5 Adult

10 Global Rare Disease Genetic Testing Market (by End User), 2022-2033

  • 10.1 Overview
  • 10.2 Hospitals
  • 10.3 Diagnostic Laboratories
  • 10.4 Other End User

11 Global Rare Disease Genetic Testing Market (by Region)

  • 11.1 North America Rare Disease Genetic Testing Market
    • 11.1.1 Market Dynamics
      • 11.1.1.1 Impact Analysis
    • 11.1.2 Market Sizing and Forecast
      • 11.1.2.1 North America Rare Disease Genetic Testing Market (by Disease Type)
      • 11.1.2.2 North America Rare Disease Genetic Testing Market (by Technology)
      • 11.1.2.3 North America Rare Disease Genetic Testing Market (by Country)
        • 11.1.2.3.1 U.S.
          • 11.1.2.3.1.1 Market Dynamics
          • 11.1.2.3.1.2 Market Size and Forecast
          • 11.1.2.3.1.2.1 U.S. Rare Disease Genetic Testing Market (by Disease Type)
          • 11.1.2.3.1.2.2 U.S. Rare Disease Genetic Testing Market (by Technology)
        • 11.1.2.3.2 Canada
          • 11.1.2.3.2.1 Market Dynamics
          • 11.1.2.3.2.2 Market Size and Forecast
          • 11.1.2.3.2.2.1 Canada Rare Disease Genetic Testing Market (by Disease Type)
          • 11.1.2.3.2.2.2 Canada Rare Disease Genetic Testing Market (by Technology)
  • 11.2 Europe Rare Disease Genetic Testing Market
    • 11.2.1 Market Dynamics
      • 11.2.1.1 Impact Analysis
    • 11.2.2 Market Sizing and Forecast
      • 11.2.2.1 Europe Rare Disease Genetic Testing Market (by Disease Type)
      • 11.2.2.2 Europe Rare Disease Genetic Testing Market (by Technology)
      • 11.2.2.3 Europe Rare Disease Genetic Testing Market (by Country)
        • 11.2.2.3.1 Germany
          • 11.2.2.3.1.1 Market Dynamics
          • 11.2.2.3.1.2 Market Size and Forecast
          • 11.2.2.3.1.2.1 Germany Rare Disease Genetic Testing Market (by Disease Type)
          • 11.2.2.3.1.2.2 Germany Rare Disease Genetic Testing Market (by Technology)
        • 11.2.2.3.2 U.K.
          • 11.2.2.3.2.1 Market Dynamics
          • 11.2.2.3.2.2 Market Size and Forecast
          • 11.2.2.3.2.2.1 U.K Rare Disease Genetic Testing Market (by Disease Type)
          • 11.2.2.3.2.2.2 U.K. Rare Disease Genetic Testing Market (by Technology)
        • 11.2.2.3.3 France
          • 11.2.2.3.3.1 Market Dynamics
          • 11.2.2.3.3.2 Market Size and Forecast
          • 11.2.2.3.3.2.1 France Rare Disease Genetic Testing Market (by Disease Type)
          • 11.2.2.3.3.2.2 France Rare Disease Genetic Testing Market (by Technology)
        • 11.2.2.3.4 Italy
          • 11.2.2.3.4.1 Market Dynamics
          • 11.2.2.3.4.2 Market Size and Forecast
          • 11.2.2.3.4.2.1 Italy Rare Disease Genetic Testing Market (by Disease Type)
          • 11.2.2.3.4.2.2 Italy Rare Disease Genetic Testing Market (by Technology)
        • 11.2.2.3.5 Spain
          • 11.2.2.3.5.1 Market Dynamics
          • 11.2.2.3.5.2 Market Size and Forecast
          • 11.2.2.3.5.2.1 Spain Rare Disease Genetic Testing Market (by Disease Type)
          • 11.2.2.3.5.2.2 Spain Rare Disease Genetic Testing Market (by Technology)
        • 11.2.2.3.6 Russia
          • 11.2.2.3.6.1 Market Dynamics
          • 11.2.2.3.6.2 Market Size and Forecast
          • 11.2.2.3.6.2.1 Russia Rare Disease Genetic Testing Market (by Disease Type)
          • 11.2.2.3.6.2.2 Russia Rare Disease Genetic Testing Market (by Technology)
        • 11.2.2.3.7 Rest-of-Europe
          • 11.2.2.3.7.1 Market Dynamics
          • 11.2.2.3.7.2 Market Size and Forecast
          • 11.2.2.3.7.2.1 Rest-of-Europe Rare Disease Genetic Testing Market (by Disease Type)
          • 11.2.2.3.7.2.2 Rest-of-Europe Rare Disease Genetic Testing Market (by Technology)
  • 11.3 Asia-Pacific Rare Disease Genetic Testing Market
    • 11.3.1 Market Dynamics
      • 11.3.1.1 Impact Analysis
    • 11.3.2 Market Size and Forecast
      • 11.3.2.1 Asia-Pacific Rare Disease Genetic Testing Market (by Disease Type)
      • 11.3.2.2 Asia-Pacific Rare Disease Genetic Testing Market (by Technology)
      • 11.3.2.3 Asia-Pacific Rare Disease Genetic Testing Market (by Country)
        • 11.3.2.3.1 Japan
          • 11.3.2.3.1.1 Market Dynamics
          • 11.3.2.3.1.2 Market Size and Forecast
          • 11.3.2.3.1.2.1 Japan Rare Disease Genetic Testing Market (by Disease Type)
          • 11.3.2.3.1.2.2 Japan Rare Disease Genetic Testing Market (by Technology)
        • 11.3.2.3.2 China
          • 11.3.2.3.2.1 Market Dynamics
          • 11.3.2.3.2.2 Market Size and Forecast
          • 11.3.2.3.2.2.1 China Rare Disease Genetic Testing Market (by Disease Type)
          • 11.3.2.3.2.2.2 China Rare Disease Genetic Testing Market (by Technology)
        • 11.3.2.3.3 Australia
          • 11.3.2.3.3.1 Market Dynamics
          • 11.3.2.3.3.2 Market Size and Forecast
          • 11.3.2.3.3.2.1 Australia Rare Disease Genetic Testing Market (by Disease Type)
          • 11.3.2.3.3.2.2 Australia Rare Disease Genetic Testing Market (by Technology)
        • 11.3.2.3.4 South Korea
          • 11.3.2.3.4.1 Market Dynamics
          • 11.3.2.3.4.2 Market Size and Forecast
          • 11.3.2.3.4.2.1 South Korea Rare Disease Genetic Testing Market (by Disease Type)
          • 11.3.2.3.4.2.2 South Korea Rare Disease Genetic Testing Market (by Technology)
        • 11.3.2.3.5 India
          • 11.3.2.3.5.1 Market Dynamics
          • 11.3.2.3.5.2 Market Size and Forecast
          • 11.3.2.3.5.2.1 India Rare Disease Genetic Testing Market (by Disease Type)
          • 11.3.2.3.5.2.2 India Rare Disease Genetic Testing Market (by Technology)
        • 11.3.2.3.6 Singapore
          • 11.3.2.3.6.1 Market Dynamics
          • 11.3.2.3.6.2 Market Size and Forecast
          • 11.3.2.3.6.2.1 Singapore Rare Disease Genetic Testing Market (by Disease Type)
          • 11.3.2.3.6.2.2 Singapore Rare Disease Genetic Testing Market (by Technology)
        • 11.3.2.3.7 Rest-of-Asia-Pacific
          • 11.3.2.3.7.1 Market Dynamics
          • 11.3.2.3.7.2 Market Size and Forecast
          • 11.3.2.3.7.2.1 Rest-of-Asia-Pacific Rare Disease Genetic Testing Market (by Disease Type)
          • 11.3.2.3.7.2.2 Rest-of-Asia-Pacific Rare Disease Genetic Testing Market (by Technology)
  • 11.4 Latin America Rare Disease Genetic Testing Market
    • 11.4.1 Market Dynamics
      • 11.4.1.1 Impact Analysis
    • 11.4.2 Market Size and Forecast
      • 11.4.2.1 Latin America Rare Disease Genetic Testing Market (by Disease Type)
      • 11.4.2.2 Latin America Rare Disease Genetic Testing Market (by Technology)
      • 11.4.2.3 Latin America Rare Disease Genetic Testing Market (by Country)
        • 11.4.2.3.1 Brazil
          • 11.4.2.3.1.1 Market Dynamics
          • 11.4.2.3.1.2 Market Size and Forecast
          • 11.4.2.3.1.2.1 Brazil Rare Disease Genetic Testing Market (by Disease Type)
          • 11.4.2.3.1.2.2 Brazil Rare Disease Genetic Testing Market (by Technology)
        • 11.4.2.3.2 Mexico
          • 11.4.2.3.2.1 Market Dynamics
          • 11.4.2.3.2.2 Market Size and Forecast
          • 11.4.2.3.2.2.1 Mexico Rare Disease Genetic Testing Market (by Disease Type)
          • 11.4.2.3.2.2.2 Mexico Rare Disease Genetic Testing Market (by Technology)
        • 11.4.2.3.3 Rest-of-Latin America
          • 11.4.2.3.3.1 Market Dynamics
          • 11.4.2.3.3.2 Market Size and Forecast
          • 11.4.2.3.3.2.1 Rest-of-Latin America Rare Disease Genetic Testing Market (by Disease Type)
          • 11.4.2.3.3.2.2 Rest-of-Latin America Rare Disease Genetic Testing Market (by Technology)
  • 11.5 Rest-of-the-World Rare Disease Genetic Testing Market
    • 11.5.1 Market Dynamics
      • 11.5.1.1 Impact Analysis
    • 11.5.2 Market Size and Forecast
      • 11.5.2.1 Rest-of-the-World Rare Disease Genetic Testing Market (by Disease Type)
      • 11.5.2.2 Rest-of-the-World Rare Disease Genetic Testing Market (by Technology)

12 Company Profiles

  • 12.1 Overview
    • 12.1.1 23andMe Holding Co.
      • 12.1.1.1 Company Overview
      • 12.1.1.2 Role of 23andMe Holding Co. in the Global Rare Disease Genetic Testing Market
      • 12.1.1.3 Financials
      • 12.1.1.4 Recent Developments
      • 12.1.1.5 Analyst Perspective
    • 12.1.2 3billion, Inc.
      • 12.1.2.1 Company Overview
      • 12.1.2.2 Role of 3billion, Inc. in the Global Rare Disease Genetic Testing Market
      • 12.1.2.3 Recent Developments
      • 12.1.2.4 Analyst Perspective
    • 12.1.3 Agilent Technologies, Inc.
      • 12.1.3.1 Company Overview
      • 12.1.3.2 Role of Agilent Technologies, Inc. in the Global Rare Disease Genetic Testing Market
      • 12.1.3.3 Financials
      • 12.1.3.4 Recent Developments
      • 12.1.3.5 Analyst Perspective
    • 12.1.4 Konica Minolta (Ambry Genetics, Inc.)
      • 12.1.4.1 Company Overview
      • 12.1.4.2 Role of Konica Minolta (Ambry Genetics, Inc.) in the Global Rare Disease Genetic Testing Market
      • 12.1.4.3 Financials
      • 12.1.4.4 Recent Developments
      • 12.1.4.5 Analyst Perspective
    • 12.1.5 BGI Group
      • 12.1.5.1 Company Overview
      • 12.1.5.2 Role of BGI Group in the Global Rare Disease Genetic Testing Market
      • 12.1.5.3 Financials
      • 12.1.5.4 Recent Developments
      • 12.1.5.5 Analyst Perspective
    • 12.1.6 CENTOGENE N.V.
      • 12.1.6.1 Company Overview
      • 12.1.6.2 Role of CENTOGENE N.V. in the Global Rare Disease Genetic Testing Market
      • 12.1.6.3 Financials
      • 12.1.6.4 Recent Developments
      • 12.1.6.5 Analyst Perspective
    • 12.1.7 Eurofins Scientific SE
      • 12.1.7.1 Company Overview
      • 12.1.7.2 Role of Eurofins Scientific SE in the Global Rare Disease Genetic Testing Market
      • 12.1.7.3 Financials
      • 12.1.7.4 Recent Developments
      • 12.1.7.5 Analyst Perspective
    • 12.1.8 GeneDx, Holdings Corp.
      • 12.1.8.1 Company Overview
      • 12.1.8.2 Role of GeneDx, Holdings Corp. in the Global Rare Disease Genetic Testing Market
      • 12.1.8.3 Financials
      • 12.1.8.4 Recent Developments
      • 12.1.8.5 Analyst Perspective
    • 12.1.9 Azenta U.S., Inc. (GENEWIZ, Inc.)
      • 12.1.9.1 Company Overview
      • 12.1.9.2 Role of Azenta U.S., Inc. (GENEWIZ, Inc.) in the Global Rare Disease Genetic Testing Market
      • 12.1.9.3 Financials
      • 12.1.9.4 Recent Developments
      • 12.1.9.5 Analyst Perspective
    • 12.1.10 Illumina, Inc.
      • 12.1.10.1 Company Overview
      • 12.1.10.2 Role of Illumina, Inc. in the Global Rare Disease Genetic Testing Market
      • 12.1.10.3 Financials
      • 12.1.10.4 Recent Developments
      • 12.1.10.5 Analyst Perspective
    • 12.1.11 Invitae Corporation
      • 12.1.11.1 Company Overview
      • 12.1.11.2 Role of Invitae Corporation in the Global Rare Disease Genetic Testing Market
      • 12.1.11.3 Financials
      • 12.1.11.4 Recent Developments
      • 12.1.11.5 Analyst Perspective
    • 12.1.12 Laboratory Corporation of America Holdings
      • 12.1.12.1 Company Overview
      • 12.1.12.2 Role of Laboratory Corporation of America Holdings in the Global Rare Disease Genetic Testing Market
      • 12.1.12.3 Financials
      • 12.1.12.4 Recent Developments
      • 12.1.12.5 Analyst Perspective
    • 12.1.13 Medgenome
      • 12.1.13.1 Company Overview
      • 12.1.13.2 Role of Medgenome in the Global Rare Disease Genetic Testing Market
      • 12.1.13.3 Recent Developments
      • 12.1.13.4 Analyst Perspective
    • 12.1.14 Myriad Genetics, Inc.
      • 12.1.14.1 Company Overview
      • 12.1.14.2 Role of Myriad Genetics, Inc. in the Global Rare Disease Genetic Testing Market
      • 12.1.14.3 Financials
      • 12.1.14.4 Recent Developments
      • 12.1.14.5 Analyst Perspective
    • 12.1.15 OPKO Health, Inc.
      • 12.1.15.1 Company Overview
      • 12.1.15.2 Role of OPKO Health, Inc. in the Global Rare Disease Genetic Testing Market
      • 12.1.15.3 Financials
      • 12.1.15.4 Recent Developments
      • 12.1.15.5 Analyst Perspective
    • 12.1.16 PerkinElmer, Inc.
      • 12.1.16.1 Company Overview
      • 12.1.16.2 Role of PerkinElmer, Inc. in the Global Rare Disease Genetic Testing Market
      • 12.1.16.3 Financials
      • 12.1.16.4 Key Insights about the Financial Health of the Company
      • 12.1.16.5 Recent Developments
      • 12.1.16.6 Analyst Perspective
    • 12.1.17 Exact Sciences Corporation (Prevention Genetics)
      • 12.1.17.1 Company Overview
      • 12.1.17.2 Role of Exact Sciences Corporation (Prevention Genetics) in the Global Rare Disease Genetic Testing Market
      • 12.1.17.3 Financials
      • 12.1.17.4 Recent Developments
      • 12.1.17.5 Analyst Perspective
    • 12.1.18 QIAGEN N.V.
      • 12.1.18.1 Company Overview
      • 12.1.18.2 Role of QIAGEN N.V. in the Global Rare Disease Genetic Testing Market
      • 12.1.18.3 Financials
      • 12.1.18.4 Recent Developments
      • 12.1.18.5 Analyst Perspective
    • 12.1.19 Quest Diagnostics Incorporated
      • 12.1.19.1 Company Overview
      • 12.1.19.2 Role of Quest Diagnostics Incorporated in the Global Rare Disease Genetic Testing Market
      • 12.1.19.3 Financials
      • 12.1.19.4 Analyst Perspective
    • 12.1.20 Strand Life Science Pvt Ltd.
      • 12.1.20.1 Company Overview
      • 12.1.20.2 Role of Strand Life Science Pvt Ltd. in the Global Rare Disease Genetic Testing Market
      • 12.1.20.3 Recent Developments
      • 12.1.20.4 Analyst Perspective
Product Code: BHP0644SC

List of Figures

  • Figure 1: Global Prevalence Rare Disease, 2022
  • Figure 2: Global Rare Disease Genetic Testing Market, $Billion, 2022-2033
  • Figure 3: Global Rare Disease Genetic Testing Market, Market Dynamics
  • Figure 4: Most Frequently Studied Rare Diseases, 2021
  • Figure 5: Global Rare Disease Genetic Testing Market Share (by Technology), 2022 and 2033
  • Figure 6: Global Rare Disease Genetic Testing Market Share (by Specialty Type), 2022 and 2033
  • Figure 7: Global Rare Disease Genetic Testing Market Share (by Offering), 2022 and 2033
  • Figure 8: Global Rare Disease Genetic Testing Market Share (by Disease Type), 2022 and 2033
  • Figure 9: Global Rare Disease Genetic Testing Market Share (by Sample Type), 2022 and 2033
  • Figure 10: Global Rare Disease Genetic Testing Market Share (by Trait Type), 2022 and 2033
  • Figure 11: Global Rare Disease Genetic Testing Market Share (by End User), 2022 and 2033
  • Figure 12: Global Rare Disease Genetic Testing Market (by Region), $Billion, 2022 and 2033
  • Figure 13: Share of Key Developments and Strategies, January 2019-June 2023
  • Figure 14: Global Rare Disease Genetic Testing Market Segmentation
  • Figure 15: Global Rare Disease Genetic Testing Market: Research Methodology
  • Figure 16: Primary Research Methodology
  • Figure 17: Bottom-Up Approach (Segment-Wise Analysis)
  • Figure 18: Top-Down Approach (Segment-Wise Analysis)
  • Figure 19: Global Rare Disease Genetic Testing Market Potential, $Billion, 2022-2033
  • Figure 20: Regulatory Scenario in Europe (by Country)
  • Figure 21: Global Rare Disease Genetic Testing Market, Patent Analysis (by Country), January 2018- June 2023
  • Figure 22: Global Rare Disease Genetic Testing Market, Patent Analysis (by Year), January 2018-June 2023
  • Figure 23: NIH Funding on Rare Diseases, $Million, 2013-2023
  • Figure 24: Global Rare Disease Genetic Testing Market Dynamics
  • Figure 25: Rare Disease Prevalence in India, 2022
  • Figure 26: Global Prevalence of Rare Diseases, 2022
  • Figure 27: Most Frequently Studied Rare Diseases, 2021
  • Figure 28: Publications Related to the Use of Artificial Intelligence for Rare Disease Diagnosis, 2015-2022
  • Figure 29: Global Rare Disease Genetic Testing Market, Number of Key Developments and Strategies, January 2019-June 2023
  • Figure 30: Global Rare Disease Genetic Testing Market, Number of Funding Activities, January 2019-June 2023
  • Figure 31: Global Rare Disease Genetic Testing Market, Number of New Offerings, Product Upgradation, and Approvals January 2019-June 2023
  • Figure 32: Global Rare Disease Genetic Testing Market, Number of Mergers and Acquisitions, January 2019-June 2023
  • Figure 33: Global Rare Disease Genetic Testing Market, Number of Partnerships, Collaborations, and Business Expansions, January 2019-June 2023
  • Figure 34: Global Rare Disease Genetic Testing Market, Company Revenue Share Analysis of Companies Offering Products, $Billion, 2022
  • Figure 35: Global Rare Disease Genetic Testing Market, Company Revenue Share Analysis of Companies Offering Services, $Billion, 2022
  • Figure 36: Global Rare Disease Genetic Testing Market, Growth-Share Matrix (by Disease Type), 2023-2033
  • Figure 37: Global Rare Disease Genetic Testing Market, Growth-Share Matrix (by Technology Type), 2023-2033
  • Figure 38: Global Rare Disease Genetic Testing Market (by Disease Type)
  • Figure 39: Global Rare Disease Genetic Testing Market (by Disease Type), $Billion, 2022-2032
  • Figure 40: Global Rare Disease Genetic Testing Market (Gastroenterology Disease), $Billion, 2022-2033
  • Figure 41: Global Rare Disease Genetic Testing Market (Endocrine and Metabolism Disease), $Billion, 2022-2033
  • Figure 42: Global Rare Disease Genetic Testing Market (Cardiovascular Disease), $Billion, 2022-2033
  • Figure 43: Global Rare Disease Genetic Testing Market (Neurology Disease), $Billion, 2022-2033
  • Figure 44: Global Rare Disease Genetic Testing Market (Hematology and Oncology Disease), $Billion, 2022-2033
  • Figure 45: Global Rare Disease Genetic Testing Market (Dermatology Disease), $Billion, 2022-2033
  • Figure 46: Global Rare Disease Genetic Testing Market (Other Diseases), $Billion, 2022-2033
  • Figure 47: Global Rare Disease Genetic Testing Market (by Offering)
  • Figure 48: Global Rare Disease Genetic Testing Market (by Offering), $Billion, 2022-2032
  • Figure 49: Global Rare Disease Genetic Testing Market (Products), $Billion, 2022-2033
  • Figure 50: Global Rare Disease Genetic Testing Market (Services), $Billion, 2022-2033
  • Figure 51: Global Rare Disease Genetic Testing Market (by Specialty Type)
  • Figure 52: Global Rare Disease Genetic Testing Market (by Specialty Type), $Billion, 2022-2032
  • Figure 53: Global Rare Disease Genetic Testing Market (Molecular Genetic Tests), $Billion, 2022-2033
  • Figure 54: Global Rare Disease Genetic Testing Market (Chromosomal Genetic Tests), $Billion, 2022-2033
  • Figure 55: Global Rare Disease Genetic Testing Market (Biochemical Genetic Tests), $Billion, 2022-2033
  • Figure 56: Global Rare Disease Genetic Testing Market (by Sample Type)
  • Figure 57: Global Rare Disease Genetic Testing Market (by Sample Type), $Billion, 2022-2032
  • Figure 58: Global Rare Disease Genetic Testing Market (DNA Sample), $Billion, 2022-2033
  • Figure 59: Global Rare Disease Genetic Testing Market (Buccal Swab Sample), $Billion, 2022-2033
  • Figure 60: Global Rare Disease Genetic Testing Market (Blood Sample), $Billion, 2022-2033
  • Figure 61: Global Rare Disease Genetic Testing Market (Saliva Sample), $Billion, 2022-2033
  • Figure 62: Global Rare Disease Genetic Testing Market (Others), $Billion, 2022-2033
  • Figure 63: Global Rare Disease Genetic Testing Market (by Trait Type)
  • Figure 64: Global Rare Disease Genetic Testing Market (by Trait Type), $Billion, 2022-2032
  • Figure 65: Global Rare Disease Genetic Testing Market (Inherited Trait), $Billion, 2022-2033
  • Figure 66: Global Rare Disease Genetic Testing Market (Acquired Trait), $Billion, 2022-2033
  • Figure 67: Global Rare Disease Genetic Testing Market (by Technology)
  • Figure 68: Global Rare Disease Genetic Testing Market (by Technology), $Billion, 2022-2032
  • Figure 69: Global Rare Disease Genetic Testing Market (Polymerase Chain Reaction (PCR)), $Billion, 2022-2033
  • Figure 70: Global Rare Disease Genetic Testing Market (by Next-Generation Sequencing (NGS)), $Billion, 2022-2033
  • Figure 71: Global Rare Disease Genetic Testing Market (Whole Genome Sequencing), $Billion, 2022-2033
  • Figure 72: Global Rare Disease Genetic Testing Market (Whole Exome Sequencing), $Billion, 2022-2033
  • Figure 73: Global Rare Disease Genetic Testing Market (Microarrays), $Billion, 2022-2033
  • Figure 74: Global Rare Disease Genetic Testing Market (Sanger Sequencing), $Billion, 2022-2033
  • Figure 75: Global Rare Disease Genetic Testing Market (Other Technologies), $Billion, 2022-2033
  • Figure 76: Global Rare Disease Genetic Testing Market (by Age Group)
  • Figure 77: Global Rare Disease Genetic Testing Market (by Age Group), $Billion, 2022-2032
  • Figure 78: Global Rare Disease Genetic Testing Market (Prenatal), $Billion, 2022-2033
  • Figure 79: Global Rare Disease Genetic Testing Market (Neonate and Infant), $Billion, 2022-2033
  • Figure 80: Global Rare Disease Genetic Testing Market (Children and Adolescent), $Billion, 2022-2033
  • Figure 81: Global Rare Disease Genetic Testing Market (Adult), $Billion, 2022-2033
  • Figure 82: Global Rare Disease Genetic Testing Market (by End User)
  • Figure 83: Global Rare Disease Genetic Testing Market (by End User), $Billion, 2022-2032
  • Figure 84: Global Rare Disease Genetic Testing Market (Hospitals), $Billion, 2022-2033
  • Figure 85: Global Rare Disease Genetic Testing Market (Diagnostic Laboratories), $Billion, 2022-2033
  • Figure 86: Global Rare Disease Genetic Testing Market (Other End User), $Billion, 2022-2033
  • Figure 87: Global Rare Disease Genetic Testing Market Share (by Region), 2022-2033
  • Figure 88: North America Rare Disease Genetic Testing Market, $Billion, 2022-2033
  • Figure 89: North America Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
  • Figure 90: North America Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
  • Figure 91: North America Rare Disease Genetic Testing Market (by Country), % Share, 2022 and 2033
  • Figure 92: U.S. Rare Disease Genetic Testing Market, $Million, 2022-2033
  • Figure 93: U.S. Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
  • Figure 94: U.S. Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
  • Figure 95: Canada Rare Disease Genetic Testing Market, $Million, 2022-2033
  • Figure 96: Canada Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
  • Figure 97: Canada Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
  • Figure 98: Europe Rare Disease Genetic Testing Market, $Billion, 2022-2033
  • Figure 99: Europe Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
  • Figure 100: Europe Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
  • Figure 101: Europe Rare Disease Genetic Testing Market (by Country), % Share, 2022 and 2033
  • Figure 102: Germany Rare Disease Genetic Testing Market, $Million, 2022-2033
  • Figure 103: Germany Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
  • Figure 104: Germany Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
  • Figure 105: U.K. Rare Disease Genetic Testing Market, $Million, 2022-2033
  • Figure 106: U.K. Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
  • Figure 107: U.K. Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
  • Figure 108: France Rare Disease Genetic Testing Market, $Million, 2022-2033
  • Figure 109: France Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
  • Figure 110: France Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
  • Figure 111: Italy Rare Disease Genetic Testing Market, $Million, 2022-2033
  • Figure 112: Italy Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
  • Figure 113: Italy Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
  • Figure 114: Spain Rare Disease Genetic Testing Market, $Million, 2022-2033
  • Figure 115: Spain Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
  • Figure 116: Spain Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
  • Figure 117: Russia Rare Disease Genetic Testing Market, $Million, 2022-2033
  • Figure 118: Russia Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
  • Figure 119: Russia Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
  • Figure 120: Rest-of-Europe Rare Disease Genetic Testing Market, $Million, 2022-2033
  • Figure 121: Rest-of-Europe Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
  • Figure 122: Rest-of-Europe Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
  • Figure 123: Asia-Pacific Rare Disease Genetic Testing Market, $Billion, 2022-2033
  • Figure 124: Asia-Pacific Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
  • Figure 125: Asia-Pacific Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
  • Figure 126: Asia-Pacific Rare Disease Genetic Testing Market (by Country), % Share, 2022 and 2033
  • Figure 127: Japan Rare Disease Genetic Testing Market, $Million, 2022-2033
  • Figure 128: Japan Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
  • Figure 129: Japan Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
  • Figure 130: China Rare Disease Genetic Testing Market, $Million, 2022-2033
  • Figure 131: China Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
  • Figure 132: China Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
  • Figure 133: Australia Rare Disease Genetic Testing Market, $Million, 2022-2033
  • Figure 134: Australia Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
  • Figure 135: Australia Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
  • Figure 136: South Korea Rare Disease Genetic Testing Market, $Million, 2022-2033
  • Figure 137: South Korea Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
  • Figure 138: South Korea Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
  • Figure 139: India Rare Disease Genetic Testing Market, $Million, 2022-2033
  • Figure 140: India Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
  • Figure 141: India Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
  • Figure 142: Singapore Rare Disease Genetic Testing Market, $Million, 2022-2033
  • Figure 143: Singapore Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
  • Figure 144: Singapore Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
  • Figure 145: Rest-of-Asia-Pacific Rare Disease Genetic Testing Market, $Million, 2022-2033
  • Figure 146: Rest-of-Asia-Pacific Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
  • Figure 147: Rest-of-Asia-Pacific Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
  • Figure 148: Latin America Rare Disease Genetic Testing Market, $Billion, 2022-2033
  • Figure 149: Latin America Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
  • Figure 150: Latin America Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
  • Figure 151: Latin America Rare Disease Genetic Testing Market (by Country), % Share, 2022 and 2033
  • Figure 152: Brazil Rare Disease Genetic Testing Market, $Million, 2022-2033
  • Figure 153: Brazil Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
  • Figure 154: Brazil Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
  • Figure 155: Mexico Rare Disease Genetic Testing Market, $Million, 2022-2033
  • Figure 156: Mexico Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
  • Figure 157: Mexico Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
  • Figure 158: Rest-of-Latin America Rare Disease Genetic Testing Market, $Million, 2022-2033
  • Figure 159: Rest-of-Latin America Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
  • Figure 160: Rest-of-Latin America Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
  • Figure 161: Rest-of-the-World Rare Disease Genetic Testing Market, $Billion, 2022-2033
  • Figure 162: Rest-of-the-World Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
  • Figure 163: Rest-of-the-World Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
  • Figure 164: Global Rare Disease Genetic Testing Market, Total Number of Key Companies Profiled
  • Figure 165: 23andMe, Inc: Product Portfolio
  • Figure 166: 23andMe Holding Co.: Overall Financials, $Million, 2020-2022
  • Figure 167: 23andMe Holding Co.: Net Revenue (by Segment), $Million, 2020-2022
  • Figure 168: 23andMe Holding Co.: Net Revenue (by Region), $Million, 2020-2022
  • Figure 169: 23andMe Holding Co.: R&D Expenditure, $Million, 2020-2022
  • Figure 170: 3billion, Inc: Product Portfolio
  • Figure 171: Agilent Technologies, Inc: Product Portfolio
  • Figure 172: Agilent Technologies, Inc.: Overall Financials, $Million, 2020-2022
  • Figure 173: Agilent Technologies, Inc.: Net Revenue (by Segment), $Million, 2020-2022
  • Figure 174: Agilent Technologies, Inc.: Net Revenue (by Region), $Million, 2020-2022
  • Figure 175: Agilent Technologies, Inc.: R&D Expenditure, $Million, 2020-2022
  • Figure 176: Konica Minolta (Ambry Genetics, Inc.): Product Portfolio
  • Figure 177: Konica Minolta (Ambry Genetics, Inc.).: Overall Financials, $Million, 2020-2022
  • Figure 178: Konica Minolta (Ambry Genetics, Inc.): Net Revenue (by Segment), $Million, 2020-2022
  • Figure 179: Konica Minolta (Ambry Genetics, Inc.): Net Revenue (by Region), $Million, 2020-2022
  • Figure 180: Konica Minolta (Ambry Genetics, Inc.): R&D Expenditure, $Million, 2020-2022
  • Figure 181: BGI Genomics: Product Portfolio
  • Figure 182: BGI Genomics.: Overall Financials, $Million, 2020-2022
  • Figure 183: CENTOGENE N.V.: Product Portfolio
  • Figure 184: CENTOGENE N.V.: Overall Financials, $Million, 2020-2022
  • Figure 185: CENTOGENE N.V.: Net Revenue (by Segment), $Million, 2020-2022
  • Figure 186: CENTOGENE N.V.: Net Revenue (by Region), $Million, 2020-2022
  • Figure 187: CENTOGENE N.V.: R&D Expenditure, $Million, 2020-202
  • Figure 188: Eurofins Scientific SE: Product Portfolio
  • Figure 189: Eurofins Scientific SE: Overall Financials, $Million, 2020-2022
  • Figure 190: Eurofins Scientific SE: Net Revenue (by Segment), $Million, 2020-2022
  • Figure 191: Eurofins Scientific SE: Net Revenue (by Region), $Million, 2020-2022
  • Figure 192: GeneDx, Holdings Corp.: Product Portfolio
  • Figure 193: GeneDx, Holdings Corp.: Overall Financials, $Million, 2020-2022
  • Figure 194: GeneDx, Holdings Corp.: Net Revenue (by Segment), $Million, 2020-2022
  • Figure 195: GeneDx, Holdings Corp.: R&D Expenditure, $Million, 2020-2022
  • Figure 196: Azenta U.S., Inc. (GENEWIZ, Inc.): Product Portfolio
  • Figure 197: Azenta U.S., Inc. (GENEWIZ, Inc.): Overall Financials, $Million, 2020-2022
  • Figure 198: Azenta U.S., Inc. (GENEWIZ, Inc.): Net Revenue (by Segment), $Million, 2020-2022
  • Figure 199: Azenta U.S., Inc. (GENEWIZ, Inc.): Net Revenue (by Region), $Million, 2020-2022
  • Figure 200: Illumina, Inc.: Product Portfolio
  • Figure 201: Illumina, Inc.: Overall Financials, $Million, 2020-2022
  • Figure 202: Illumina, Inc.: Revenue (by Segment), $Million, 2020-2022
  • Figure 203: Illumina, Inc.: Revenue (by Region), $Million, 2020-2022
  • Figure 204: Illumina, Inc.: R&D Expenditure, $Million, 2020-2022
  • Figure 205: Invitae Corporation: Product Portfolio
  • Figure 206: Invitae Corporation: Overall Financials, $Million, 2020-2022
  • Figure 207: Invitae Corporation: Net Revenue (by Segment), $Million, 2020-2022
  • Figure 208: Invitae Corporation: Net Revenue (by Region), $Million, 2020-2022
  • Figure 209: Laboratory Corporation of America Holdings: Product Portfolio
  • Figure 210: Laboratory Corporation of America Holdings: Overall Financials, $Million, 2020-2022
  • Figure 211: Laboratory Corporation of America Holdings: Revenue (by Segment), $Million, 2020-2022
  • Figure 212: Laboratory Corporation of America Holdings: Revenue (by Region), $Million, 2020-2022
  • Figure 213: Medgenome: Product Portfolio
  • Figure 214: Myriad Genetics, Inc.: Product Portfolio
  • Figure 215: Myriad Genetics, Inc.: Overall Financials, $Million, 2020-2022
  • Figure 216: Myriad Genetics, Inc.: Net Revenue (by Segment), $Million, 2020-2022
  • Figure 217: Myriad Genetics, Inc.: R&D Expenditure, $Million, 2020-2022
  • Figure 218: OPKO Health, Inc.: Product Portfolio
  • Figure 219: OPKO Health, Inc.: Overall Financials, $Million, 2020-2022
  • Figure 220: OPKO Health, Inc.: Revenue (by Segment), $Million, 2020-2022
  • Figure 221: PerkinElmer, Inc.: Product Portfolio
  • Figure 222: PerkinElmer, Inc.: Overall Financials, $Million, 2020-2022
  • Figure 223: PerkinElmer, Inc.: Revenue (by Segment), $Million, 2020-2022
  • Figure 224: PerkinElmer, Inc.: Revenue (by Region), $Million, 2020-2022
  • Figure 225: PerkinElmer, Inc.: R&D Expenditure, $Million, 2020-2022
  • Figure 226: Exact Sciences Corporation (Prevention Genetics): Product Portfolio
  • Figure 227: Exact Sciences Corporation: Overall Financials, $Million, 2020-2022
  • Figure 228: Exact Sciences Corporation: Revenue (by Segment), $Million, 2020-2022
  • Figure 229: Exact Sciences Corporation: Revenue (by Region), $Million, 2020-2022
  • Figure 230: Exact Sciences Corporation: R&D Expenditure, $Million, 2020-2022
  • Figure 231: QIAGEN N.V.: Product Portfolio
  • Figure 232: QIAGEN N.V.: Overall Financials, $Million, 2020-2022
  • Figure 233: QIAGEN N.V.: Revenue (by Segment), $Million, 2020-2022
  • Figure 234: QIAGEN N.V.: Revenue (by Region), $Million, 2020-2022
  • Figure 235: QIAGEN N.V.: R&D Expenditure, $Million, 2020-2022
  • Figure 236: Quest Diagnostics Incorporated.: Product Portfolio
  • Figure 237: Quest Diagnostics Incorporated: Overall Financials, $Million, 2020-2022
  • Figure 238: Quest Diagnostics Incorporated: Revenue (by Segment), $Million, 2020-2022
  • Figure 239: Strand Life Science Pvt Ltd.: Product Portfolio

List of Tables

  • Table 1: Key Questions Answered in the Report
  • Table 2: Funding for Rare Disease Research
  • Table 3: Technological Advancements in the Rare Disease Genetic Testing Ecosystem
  • Table 4: Expansion of Medicare Coverage for Rare Disease Genetic Testing Tests (by Companies)
  • Table 5: North America Rare Disease Genetic Testing Market, Impact Analysis
  • Table 6: Europe Rare Disease Genetic Testing Market, Impact Analysis
  • Table 7: Asia-Pacific Rare Disease Genetic Testing Market, Impact Analysis
  • Table 8: Latin America Rare Disease Genetic Testing Market, Impact Analysis
  • Table 9: Rest-of-the-World Rare Disease Genetic Testing Market, Impact Analysis
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Manager - EMEA

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Manager - Americas

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