Rare Disease Genetic Testing Market Size, Trends, Analysis, and Outlook By Disease (Neurological Disorders, Immunological Disorders, Hematology Diseases, Endocrine & Metabolism Diseases, Cancer, Musculoskeletal Disorders, Cardiovascular Disorders, Dermatology Disease, Others), By Technology (Next Generation Sequencing, Array Technology, PCR-based Testing, FISH, Sanger Sequencing, Karyotyping), By Specialty (Molecular Genetic Tests, Chromosomal Genetic Tests, Biochemical Genetic Tests), By End-user (Research Laboratories & CROs, Hospitals & Clinics, Diagnostic Laboratories), by Region, Country, Segment, and Companies, 2024-2030

March 2024 | 190 pages | ID: RB2A1147BA07EN
VPAResearch

Abstracts

The global Rare Disease Genetic Testing market size is poised to register 14.52% growth from 2024 to 2030, presenting significant growth prospects for companies operating in the industry. The industry study analyzes the global Rare Disease Genetic Testing market across By Disease (Neurological Disorders, Immunological Disorders, Hematology Diseases, Endocrine & Metabolism Diseases, Cancer, Musculoskeletal Disorders, Cardiovascular Disorders, Dermatology Disease, Others), By Technology (Next Generation Sequencing, Array Technology, PCR-based Testing, FISH, Sanger Sequencing, Karyotyping), By Specialty (Molecular Genetic Tests, Chromosomal Genetic Tests, Biochemical Genetic Tests), By End-user (Research Laboratories & CROs, Hospitals & Clinics, Diagnostic Laboratories).

The Rare Disease Genetic Testing Market is experiencing growth propelled by increasing recognition of rare genetic disorders, rising demand for early and accurate diagnosis, and advancements in genetic testing technologies and bioinformatics analysis. Rare disease genetic testing encompasses a variety of molecular and genomic assays aimed at identifying pathogenic variants and mutations associated with rare inherited diseases. Key trends shaping its future include the development of next-generation sequencing (NGS) panels and exome sequencing assays for comprehensive and high-throughput genetic analysis, integration of bioinformatics algorithms and databases for variant interpretation and classification, and customization of genetic testing strategies for specific disease phenotypes and patient populations. Moreover, increasing adoption of newborn screening and population-based genetic screening programs, expansion of genetic counseling services and rare disease registries, and regulatory approvals for new genetic testing platforms contribute to market expansion.

Rare Disease Genetic Testing Market Drivers, Trends, Opportunities, and Growth Opportunities

This comprehensive study discusses the latest trends and the most pressing challenges for industry players and investors. The Rare Disease Genetic Testing market research analyses the global market trends, key drivers, challenges, and opportunities in the industry. In addition, the latest Future of Rare Disease Genetic Testing survey report provides the market size outlook across types, applications, and other segments across the world and regions. It provides data-driven insights and actionable recommendations for companies in the Rare Disease Genetic Testing industry.

Key market trends defining the global Rare Disease Genetic Testing demand in 2024 and Beyond

The industry continues to remain an attractive hub for opportunities for both domestic and global vendors. As the market evolves, factors such as emerging market dynamics, demand from end-user sectors, a growing patient base, changes in consumption patterns, and widening distribution channels continue to play a major role.

Rare Disease Genetic Testing Market Segmentation- Industry Share, Market Size, and Outlook to 2030

The Rare Disease Genetic Testing industry comprises a wide range of segments and sub-segments. The rising demand for these product types and applications is supporting companies to increase their investment levels across niche segments. Accordingly, leading companies plan to generate a large share of their future revenue growth from expansion into these niche segments. The report presents the market size outlook across segments to support Rare Disease Genetic Testing companies scaling up production in these sub-segments with a focus on expanding into emerging countries.

Key strategies adopted by companies within the Rare Disease Genetic Testing industry

Leading Rare Disease Genetic Testing companies are boosting investments to capitalize on untapped potential and future possibilities across niche market segments and surging demand conditions in key regions. Further, companies are leveraging advanced technologies to unlock opportunities and achieve operational excellence. The report provides key strategies opted for by the top 10 Rare Disease Genetic Testing companies.

Rare Disease Genetic Testing Market Study- Strategic Analysis Review

The Rare Disease Genetic Testing market research report dives deep into the qualitative factors shaping the market, empowering you to make informed decisions-

• Industry Dynamics: Porter's Five Forces analysis to understand bargaining power, competitive rivalry, and threats that impact long-term strategy formulation.
• Strategic Insights: Provides valuable perspectives on key players and their approaches based on comprehensive strategy analysis.
• Internal Strengths and Weaknesses: Develop targeted strategies to leverage strengths, address weaknesses, and capitalize on market opportunities.
• Future Possibilities: Prepare for diverse outcomes with in-depth scenario analysis. Explore potential market disruptions, technology advancements, and economic changes.

Rare Disease Genetic Testing Market Size Outlook- Historic and Forecast Revenue in Three Cases

The Rare Disease Genetic Testing industry report provides a detailed analysis and outlook of revenue generated by companies from 2018 to 2023. Further, with actual data for 2023, the report forecasts the market size outlook from 2024 to 2030 in three case scenarios- low case, reference case, and high case scenarios.

Rare Disease Genetic Testing Country Analysis and Revenue Outlook to 2030

The report analyses 22 countries worldwide including the key driving forces and market size outlook from 2021 to 2030. In addition, region analysis across Asia Pacific, Europe, the Middle East, Africa, North America, and South America is included in the study. For each of the six regions, the market size outlook by segments is forecast for 2030.

North America Rare Disease Genetic Testing Market Size Outlook- Companies plan for focused investments in a changing environment

The US continues to remain the market leader in North America, driven by a large consumer base, the presence of well-established providers, and a strong end-user industry demand. Leading companies focus on new product launches in the changing environment. The US economy is expected to grow in 2024 (around 2.2% growth in 2024), potentially driving demand for various Rare Disease Genetic Testing market segments. Similarly, Strong end-user demand is encouraging Canadian Rare Disease Genetic Testing companies to invest in niche segments. Further, as Mexico continues to strengthen its trade relations and invest in technological advancements, the Mexico Rare Disease Genetic Testing market is expected to experience significant expansion, offering lucrative opportunities for both domestic and international stakeholders.

Europe Rare Disease Genetic Testing Market Size Outlook-Companies investing in assessing consumers, categories, competitors, and capabilities

The German industry remains the major market for companies in the European Rare Disease Genetic Testing industry with consumers in Germany, France, the UK, Spain, Italy, and others anticipated to register a steady demand throughout the forecast period, driving the overall market prospects. In addition, the proactive approach of businesses in identifying and leveraging new growth prospects positions the European Rare Disease Genetic Testing market for an upward trajectory, fostering both domestic and international interest. Leading brands operating in the industry are emphasizing effective marketing strategies, innovative product offerings, and a keen understanding of consumer preferences.

Asia Pacific Rare Disease Genetic Testing Market Size Outlook- an attractive hub for opportunities for both local and global companies

The increasing prevalence of indications, robust healthcare expenditure, and increasing investments in healthcare infrastructure drive the demand for Rare Disease Genetic Testing in Asia Pacific. In particular, China, India, and South East Asian Rare Disease Genetic Testing markets present a compelling outlook for 2030, acting as a magnet for both domestic and multinational manufacturers seeking growth opportunities. Similarly, with a burgeoning population and a rising middle class, India offers a vast consumer market. Japanese and Korean companies are quickly aligning their strategies to navigate changes, explore new markets, and enhance their competitive edge. Our report utilizes in-depth interviews with industry experts and comprehensive data analysis to provide a comprehensive outlook of 6 major markets in the region.

Latin America Rare Disease Genetic Testing Market Size Outlook- Continued urbanization and rising income levels

Rising income levels contribute to greater purchasing power among consumers, spurring consumption and creating opportunities for market expansion. Continued urbanization and rising income levels are expected to sustainably drive consumption growth in the medium to long term.

Middle East and Africa Rare Disease Genetic Testing Market Size Outlook- continues its upward trajectory across segments

Robust demand from Middle Eastern countries including Saudi Arabia, the UAE, Qatar, Kuwait, and other GCC countries supports the overall Middle East Rare Disease Genetic Testing market potential. Fueled by increasing healthcare expenditure of individuals, growing population, and high prevalence across a few markets drives the demand for Rare Disease Genetic Testing.

Rare Disease Genetic Testing Market Company Profiles

The global Rare Disease Genetic Testing market is characterized by intense competitive conditions with leading companies opting for aggressive marketing to gain market shares. The report presents business descriptions, SWOT analysis, growth strategies, and financial profiles. Leading companies included in the study are 3billion Inc, Ambry Genetics, Artemis DNA, Arup Laboratories, Baylor Genetics, Centogene N.V., Color Genomics Inc, Coopersurgical Inc, Eurofins Scientific, Fulgent Genetics Inc, Health Network Laboratories, Invitae Corp, Laboratory Corp of America Holdings, Macrogen Inc, Myriad Genetics Inc, Opko Health Inc, Perkin Elmer Inc, PreventionGenetics, Progenity Inc, Quest Diagnostics Inc, Realm IDX Inc, Strand Life Sciences

Recent Rare Disease Genetic Testing Market Developments

The global Rare Disease Genetic Testing market study presents recent market news and developments including new product launches, mergers, acquisitions, expansions, product approvals, and other updates in the industry.

Rare Disease Genetic Testing Market Report Scope

Parameters: Revenue, Volume Price

Study Period: 2023 (Base Year); 2018- 2023 (Historic Period); 2024- 2030 (Forecast Period)

Currency: USD; (Upon request, can be provided in Euro, JPY, GBP, and other Local Currency)

Qualitative Analysis

• Pricing Analysis
• Value Chain Analysis
• SWOT Profile
• Market Dynamics- Trends, Drivers, Challenges
• Porter’s Five Forces Analysis
• Macroeconomic Impact Analysis
• Case Scenarios- Low, Base, High

Market Segmentation:

By Disease

Neurological Disorders

Immunological Disorders

Hematology Diseases

Endocrine & Metabolism Diseases

Cancer

Musculoskeletal Disorders

Cardiovascular Disorders

Dermatology Disease

Others

By Technology

Next Generation Sequencing

-Whole Exome Sequencing

-Whole Genome Sequencing

Array Technology

PCR-based Testing

FISH

Sanger Sequencing

Karyotyping

By Specialty

Molecular Genetic Tests

Chromosomal Genetic Tests

Biochemical Genetic Tests

By End-User

Research Laboratories & CROs

Hospitals & Clinics

Diagnostic Laboratories

Geographical Segmentation:

• North America (3 markets)
• Europe (6 markets)
• Asia Pacific (6 markets)
• Latin America (3 markets)
• Middle East Africa (5 markets)

Companies

3billion Inc

Ambry Genetics

Artemis DNA

Arup Laboratories

Baylor Genetics

Centogene N.V.

Color Genomics Inc

Coopersurgical Inc

Eurofins Scientific

Fulgent Genetics Inc

Health Network Laboratories

Invitae Corp

Laboratory Corp of America Holdings

Macrogen Inc

Myriad Genetics Inc

Opko Health Inc

Perkin Elmer Inc

PreventionGenetics

Progenity Inc

Quest Diagnostics Inc

Realm IDX Inc

Strand Life Sciences

Formats Available: Excel, PDF, and PPT

Contents

1. EXECUTIVE SUMMARY

1.1 Rare Disease Genetic Testing Market Overview and Key Findings, 2024
1.2 Rare Disease Genetic Testing Market Size and Growth Outlook, 2021- 2030
1.3 Rare Disease Genetic Testing Market Growth Opportunities to 2030
1.4 Key Rare Disease Genetic Testing Market Trends and Challenges
  1.4.1 Rare Disease Genetic Testing Market Drivers and Trends
  1.4.2 Rare Disease Genetic Testing Market Challenges
1.5 Competitive Landscape and Key Players
1.6 Competitive Analysis- Growth Strategies Adopted by Leading Rare Disease Genetic Testing Companies

2. RARE DISEASE GENETIC TESTING MARKET SIZE OUTLOOK TO 2030

2.1 Rare Disease Genetic Testing Market Size Outlook, USD Million, 2021- 2030
2.2 Rare Disease Genetic Testing Incremental Market Growth Outlook, %, 2021- 2030
2.3 Segment Snapshot, 2024

3. RARE DISEASE GENETIC TESTING MARKET- STRATEGIC ANALYSIS REVIEW

3.1 Porter's Five Forces Analysis
* Threat of New Entrants
* Threat of Substitutes
* Intensity of Competitive Rivalry
* Bargaining Power of Buyers
* Bargaining Power of Suppliers
3.2 Value Chain Analysis
3.3 SWOT Analysis

4. RARE DISEASE GENETIC TESTING MARKET SEGMENTATION ANALYSIS AND OUTLOOK

4.1 Market Segmentation and Scope
4.2 Market Breakdown by Type, Application, and Other Segments, 2021-2030
By Disease
Neurological Disorders
Immunological Disorders
Hematology Diseases
Endocrine & Metabolism Diseases
Cancer
Musculoskeletal Disorders
Cardiovascular Disorders
Dermatology Disease
Others
By Technology
Next Generation Sequencing
-Whole Exome Sequencing
-Whole Genome Sequencing
Array Technology
PCR-based Testing
FISH
Sanger Sequencing
Karyotyping
By Specialty
Molecular Genetic Tests
Chromosomal Genetic Tests
Biochemical Genetic Tests
By End-User
Research Laboratories & CROs
Hospitals & Clinics
Diagnostic Laboratories
4.3 Growth Prospects and Niche Opportunities, 2023- 2030
4.4 Regional comparison of Market Growth, CAGR, 2023-2030

5. REGION-WISE MARKET OUTLOOK TO 2030

5.1 Key Findings for Asia Pacific Rare Disease Genetic Testing Market, 2025
5.2 Asia Pacific Rare Disease Genetic Testing Market Size Outlook by Type, 2021- 2030
5.3 Asia Pacific Rare Disease Genetic Testing Market Size Outlook by Application, 2021- 2030
5.4 Key Findings for Europe Rare Disease Genetic Testing Market, 2025
5.5 Europe Rare Disease Genetic Testing Market Size Outlook by Type, 2021- 2030
5.6 Europe Rare Disease Genetic Testing Market Size Outlook by Application, 2021- 2030
5.7 Key Findings for North America Rare Disease Genetic Testing Market, 2025
5.8 North America Rare Disease Genetic Testing Market Size Outlook by Type, 2021- 2030
5.9 North America Rare Disease Genetic Testing Market Size Outlook by Application, 2021- 2030
5.10 Key Findings for South America Rare Disease Genetic Testing Market, 2025
5.11 South America Pacific Rare Disease Genetic Testing Market Size Outlook by Type, 2021- 2030
5.12 South America Rare Disease Genetic Testing Market Size Outlook by Application, 2021- 2030
5.13 Key Findings for Middle East and Africa Rare Disease Genetic Testing Market, 2025
5.14 Middle East Africa Rare Disease Genetic Testing Market Size Outlook by Type, 2021- 2030
5.15 Middle East Africa Rare Disease Genetic Testing Market Size Outlook by Application, 2021- 2030

6. COUNTRY-WISE MARKET SIZE OUTLOOK TO 2030

6.1 US Rare Disease Genetic Testing Market Size Outlook and Revenue Growth Forecasts
6.2 US Rare Disease Genetic Testing Industry Drivers and Opportunities
6.3 Canada Market Size Outlook and Revenue Growth Forecasts
6.4 Canada Rare Disease Genetic Testing Industry Drivers and Opportunities
6.6 Mexico Market Size Outlook and Revenue Growth Forecasts
6.6 Mexico Rare Disease Genetic Testing Industry Drivers and Opportunities
6.7 Germany Market Size Outlook and Revenue Growth Forecasts
6.8 Germany Rare Disease Genetic Testing Industry Drivers and Opportunities
6.9 France Market Size Outlook and Revenue Growth Forecasts
6.10 France Rare Disease Genetic Testing Industry Drivers and Opportunities
6.11 UK Market Size Outlook and Revenue Growth Forecasts
6.12 UK Rare Disease Genetic Testing Industry Drivers and Opportunities
6.13 Spain Market Size Outlook and Revenue Growth Forecasts
6.14 Spain Rare Disease Genetic Testing Industry Drivers and Opportunities
6.16 Italy Market Size Outlook and Revenue Growth Forecasts
6.16 Italy Rare Disease Genetic Testing Industry Drivers and Opportunities
6.17 Rest of Europe Market Size Outlook and Revenue Growth Forecasts
6.18 Rest of Europe Rare Disease Genetic Testing Industry Drivers and Opportunities
6.19 China Market Size Outlook and Revenue Growth Forecasts
6.20 China Rare Disease Genetic Testing Industry Drivers and Opportunities
6.21 India Market Size Outlook and Revenue Growth Forecasts
6.22 India Rare Disease Genetic Testing Industry Drivers and Opportunities
6.23 Japan Market Size Outlook and Revenue Growth Forecasts
6.24 Japan Rare Disease Genetic Testing Industry Drivers and Opportunities
6.26 South Korea Market Size Outlook and Revenue Growth Forecasts
6.26 South Korea Rare Disease Genetic Testing Industry Drivers and Opportunities
6.27 Australia Market Size Outlook and Revenue Growth Forecasts
6.28 Australia Rare Disease Genetic Testing Industry Drivers and Opportunities
6.29 South East Asia Market Size Outlook and Revenue Growth Forecasts
6.30 South East Asia Rare Disease Genetic Testing Industry Drivers and Opportunities
6.31 Rest of Asia Pacific Market Size Outlook and Revenue Growth Forecasts
6.32 Rest of Asia Pacific Rare Disease Genetic Testing Industry Drivers and Opportunities
6.33 Brazil Market Size Outlook and Revenue Growth Forecasts
6.34 Brazil Rare Disease Genetic Testing Industry Drivers and Opportunities
6.36 Argentina Market Size Outlook and Revenue Growth Forecasts
6.36 Argentina Rare Disease Genetic Testing Industry Drivers and Opportunities
6.37 Rest of South America Market Size Outlook and Revenue Growth Forecasts
6.38 Rest of South America Rare Disease Genetic Testing Industry Drivers and Opportunities
6.39 Middle East Market Size Outlook and Revenue Growth Forecasts
6.40 Middle East Rare Disease Genetic Testing Industry Drivers and Opportunities
6.41 Africa Market Size Outlook and Revenue Growth Forecasts
6.42 Africa Rare Disease Genetic Testing Industry Drivers and Opportunities

7. RARE DISEASE GENETIC TESTING MARKET OUTLOOK ACROSS SCENARIOS

7.1 Low Growth Case
7.2 Reference Growth Case
7.3 High Growth Case

8. RARE DISEASE GENETIC TESTING COMPANY PROFILES

8.1 Profiles of Leading Rare Disease Genetic Testing Companies in the Market
8.2 Business Descriptions, SWOT Analysis, and Growth Strategies
8.3 Financial Performance and Key Metrics

3BILLION INC

Ambry Genetics
Artemis DNA
Arup Laboratories
Baylor Genetics
Centogene N.V.
Color Genomics Inc
Coopersurgical Inc
Eurofins Scientific
Fulgent Genetics Inc
Health Network Laboratories
Invitae Corp
Laboratory Corp of America Holdings
Macrogen Inc
Myriad Genetics Inc
Opko Health Inc
Perkin Elmer Inc
PreventionGenetics
Progenity Inc
Quest Diagnostics Inc
Realm IDX Inc
Strand Life Sciences

9. APPENDIX

9.1 Scope of the Report
9.2 Research Methodology and Data Sources
9.3 Glossary of Terms
9.4 Market Definitions
9.5 Contact Information