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Global Rare Disease Diagnostics Market Research Report 2025

Global Rare Disease Diagnostics Market Research Report 2025

Publishing Date : Mar, 2025

License Type :
 

Report Code : 1717942

No of Pages : 73

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Synopsis
Often rare diseases are chronic and life-threatening. Rare diseases can be single gene, multifactorial, chromosomal or non-genetic.
The global Rare Disease Diagnostics market was valued at US$ 20540 million in 2023 and is anticipated to reach US$ 36260 million by 2030, witnessing a CAGR of 8.3% during the forecast period 2024-2030.
The global pharmaceutical market is 1475 billion USD in 2022, growing at a CAGR of 5% during the next six years. The pharmaceutical market includes chemical drugs and biological drugs. For biologics is expected to 381 billion USD in 2022. In comparison, the chemical drug market is estimated to increase from 1005 billion in 2018 to 1094 billion U.S. dollars in 2022. The pharmaceutical market factors such as increasing demand for healthcare, technological advancements, and the rising prevalence of chronic diseases, increase in funding from private & government organizations for development of pharmaceutical manufacturing segments and rise in R&D activities for drugs. However, the industry also faces challenges such as stringent regulations, high costs of research and development, and patent expirations. Companies need to continuously innovate and adapt to these challenges to stay competitive in the market and ensure their products reach patients in need. Additionally, the COVID-19 pandemic has highlighted the importance of vaccine development and supply chain management, further emphasizing the need for pharmaceutical companies to be agile and responsive to emerging public health needs.
This report aims to provide a comprehensive presentation of the global market for Rare Disease Diagnostics, with both quantitative and qualitative analysis, to help readers develop business/growth strategies, assess the market competitive situation, analyze their position in the current marketplace, and make informed business decisions regarding Rare Disease Diagnostics.
Report Scope
The Rare Disease Diagnostics market size, estimations, and forecasts are provided in terms of revenue ($ millions), considering 2023 as the base year, with history and forecast data for the period from 2019 to 2030. This report segments the global Rare Disease Diagnostics market comprehensively. Regional market sizes, concerning products by Type, by Application, and by players, are also provided.
For a more in-depth understanding of the market, the report provides profiles of the competitive landscape, key competitors, and their respective market ranks. The report also discusses technological trends and new product developments.
The report will help the Rare Disease Diagnostics companies, new entrants, and industry chain related companies in this market with information on the revenues, sales volume, and average price for the overall market and the sub-segments across the different segments, by company, by Type, by Application, and by regions.
Market Segmentation
By Company
Retrophin
3billion
23andMe
QIAGEN
Illumina
PerkinElmer
Strand Life Sciences
Segment by Type
Hematology
Oncology
Segment by Application
Hospital Laboratories
Diagnostic Laboratories
Genetic Testing Laboratories
Cancer Research Laboratories
Others
By Region
North America
United States
Canada
Europe
Germany
France
UK
Italy
Russia
Nordic Countries
Rest of Europe
Asia-Pacific
China
Japan
South Korea
Southeast Asia
India
Australia
Rest of Asia
Latin America
Mexico
Brazil
Rest of Latin America
Middle East & Africa
Turkey
Saudi Arabia
UAE
Rest of MEA
Chapter Outline
Chapter 1: Introduces the report scope of the report, executive summary of different market segments (by Type, by Application, etc), including the market size of each market segment, future development potential, and so on. It offers a high-level view of the current state of the market and its likely evolution in the short to mid-term, and long term.
Chapter 2: Introduces executive summary of global market size, regional market size, this section also introduces the market dynamics, latest developments of the market, the driving factors and restrictive factors of the market, the challenges and risks faced by companies in the industry, and the analysis of relevant policies in the industry.
Chapter 3: Detailed analysis of Rare Disease Diagnostics companies’ competitive landscape, revenue market share, latest development plan, merger, and acquisition information, etc.
Chapter 4: Provides the analysis of various market segments by Type, covering the market size and development potential of each market segment, to help readers find the blue ocean market in different market segments.
Chapter 5: Provides the analysis of various market segments by Application, covering the market size and development potential of each market segment, to help readers find the blue ocean market in different downstream markets.
Chapter 6, 7, 8, 9, 10: North America, Europe, Asia Pacific, Latin America, Middle East and Africa segment by country. It provides a quantitative analysis of the market size and development potential of each region and its main countries and introduces the market development, future development prospects, market space, and capacity of each country in the world.
Chapter 11: Provides profiles of key players, introducing the basic situation of the main companies in the market in detail, including product sales, revenue, price, gross margin, product introduction, recent development, etc.
Chapter 12: The main points and conclusions of the report.
Index
1 Report Overview
1.1 Study Scope
1.2 Market Analysis by Type
1.2.1 Global Rare Disease Diagnostics Market Size Growth Rate by Type: 2019 VS 2023 VS 2030
1.2.2 Hematology
1.2.3 Oncology
1.3 Market by Application
1.3.1 Global Rare Disease Diagnostics Market Growth by Application: 2019 VS 2023 VS 2030
1.3.2 Hospital Laboratories
1.3.3 Diagnostic Laboratories
1.3.4 Genetic Testing Laboratories
1.3.5 Cancer Research Laboratories
1.3.6 Others
1.4 Study Objectives
1.5 Years Considered
1.6 Years Considered
2 Global Growth Trends
2.1 Global Rare Disease Diagnostics Market Perspective (2019-2030)
2.2 Rare Disease Diagnostics Growth Trends by Region
2.2.1 Global Rare Disease Diagnostics Market Size by Region: 2019 VS 2023 VS 2030
2.2.2 Rare Disease Diagnostics Historic Market Size by Region (2019-2024)
2.2.3 Rare Disease Diagnostics Forecasted Market Size by Region (2025-2030)
2.3 Rare Disease Diagnostics Market Dynamics
2.3.1 Rare Disease Diagnostics Industry Trends
2.3.2 Rare Disease Diagnostics Market Drivers
2.3.3 Rare Disease Diagnostics Market Challenges
2.3.4 Rare Disease Diagnostics Market Restraints
3 Competition Landscape by Key Players
3.1 Global Top Rare Disease Diagnostics Players by Revenue
3.1.1 Global Top Rare Disease Diagnostics Players by Revenue (2019-2024)
3.1.2 Global Rare Disease Diagnostics Revenue Market Share by Players (2019-2024)
3.2 Global Rare Disease Diagnostics Market Share by Company Type (Tier 1, Tier 2, and Tier 3)
3.3 Players Covered: Ranking by Rare Disease Diagnostics Revenue
3.4 Global Rare Disease Diagnostics Market Concentration Ratio
3.4.1 Global Rare Disease Diagnostics Market Concentration Ratio (CR5 and HHI)
3.4.2 Global Top 10 and Top 5 Companies by Rare Disease Diagnostics Revenue in 2023
3.5 Rare Disease Diagnostics Key Players Head office and Area Served
3.6 Key Players Rare Disease Diagnostics Product Solution and Service
3.7 Date of Enter into Rare Disease Diagnostics Market
3.8 Mergers & Acquisitions, Expansion Plans
4 Rare Disease Diagnostics Breakdown Data by Type
4.1 Global Rare Disease Diagnostics Historic Market Size by Type (2019-2024)
4.2 Global Rare Disease Diagnostics Forecasted Market Size by Type (2025-2030)
5 Rare Disease Diagnostics Breakdown Data by Application
5.1 Global Rare Disease Diagnostics Historic Market Size by Application (2019-2024)
5.2 Global Rare Disease Diagnostics Forecasted Market Size by Application (2025-2030)
6 North America
6.1 North America Rare Disease Diagnostics Market Size (2019-2030)
6.2 North America Rare Disease Diagnostics Market Growth Rate by Country: 2019 VS 2023 VS 2030
6.3 North America Rare Disease Diagnostics Market Size by Country (2019-2024)
6.4 North America Rare Disease Diagnostics Market Size by Country (2025-2030)
6.5 United States
6.6 Canada
7 Europe
7.1 Europe Rare Disease Diagnostics Market Size (2019-2030)
7.2 Europe Rare Disease Diagnostics Market Growth Rate by Country: 2019 VS 2023 VS 2030
7.3 Europe Rare Disease Diagnostics Market Size by Country (2019-2024)
7.4 Europe Rare Disease Diagnostics Market Size by Country (2025-2030)
7.5 Germany
7.6 France
7.7 U.K.
7.8 Italy
7.9 Russia
7.10 Nordic Countries
8 Asia-Pacific
8.1 Asia-Pacific Rare Disease Diagnostics Market Size (2019-2030)
8.2 Asia-Pacific Rare Disease Diagnostics Market Growth Rate by Region: 2019 VS 2023 VS 2030
8.3 Asia-Pacific Rare Disease Diagnostics Market Size by Region (2019-2024)
8.4 Asia-Pacific Rare Disease Diagnostics Market Size by Region (2025-2030)
8.5 China
8.6 Japan
8.7 South Korea
8.8 Southeast Asia
8.9 India
8.10 Australia
9 Latin America
9.1 Latin America Rare Disease Diagnostics Market Size (2019-2030)
9.2 Latin America Rare Disease Diagnostics Market Growth Rate by Country: 2019 VS 2023 VS 2030
9.3 Latin America Rare Disease Diagnostics Market Size by Country (2019-2024)
9.4 Latin America Rare Disease Diagnostics Market Size by Country (2025-2030)
9.5 Mexico
9.6 Brazil
10 Middle East & Africa
10.1 Middle East & Africa Rare Disease Diagnostics Market Size (2019-2030)
10.2 Middle East & Africa Rare Disease Diagnostics Market Growth Rate by Country: 2019 VS 2023 VS 2030
10.3 Middle East & Africa Rare Disease Diagnostics Market Size by Country (2019-2024)
10.4 Middle East & Africa Rare Disease Diagnostics Market Size by Country (2025-2030)
10.5 Turkey
10.6 Saudi Arabia
10.7 UAE
11 Key Players Profiles
11.1 Retrophin
11.1.1 Retrophin Company Detail
11.1.2 Retrophin Business Overview
11.1.3 Retrophin Rare Disease Diagnostics Introduction
11.1.4 Retrophin Revenue in Rare Disease Diagnostics Business (2019-2024)
11.1.5 Retrophin Recent Development
11.2 3billion
11.2.1 3billion Company Detail
11.2.2 3billion Business Overview
11.2.3 3billion Rare Disease Diagnostics Introduction
11.2.4 3billion Revenue in Rare Disease Diagnostics Business (2019-2024)
11.2.5 3billion Recent Development
11.3 23andMe
11.3.1 23andMe Company Detail
11.3.2 23andMe Business Overview
11.3.3 23andMe Rare Disease Diagnostics Introduction
11.3.4 23andMe Revenue in Rare Disease Diagnostics Business (2019-2024)
11.3.5 23andMe Recent Development
11.4 QIAGEN
11.4.1 QIAGEN Company Detail
11.4.2 QIAGEN Business Overview
11.4.3 QIAGEN Rare Disease Diagnostics Introduction
11.4.4 QIAGEN Revenue in Rare Disease Diagnostics Business (2019-2024)
11.4.5 QIAGEN Recent Development
11.5 Illumina
11.5.1 Illumina Company Detail
11.5.2 Illumina Business Overview
11.5.3 Illumina Rare Disease Diagnostics Introduction
11.5.4 Illumina Revenue in Rare Disease Diagnostics Business (2019-2024)
11.5.5 Illumina Recent Development
11.6 PerkinElmer
11.6.1 PerkinElmer Company Detail
11.6.2 PerkinElmer Business Overview
11.6.3 PerkinElmer Rare Disease Diagnostics Introduction
11.6.4 PerkinElmer Revenue in Rare Disease Diagnostics Business (2019-2024)
11.6.5 PerkinElmer Recent Development
11.7 Strand Life Sciences
11.7.1 Strand Life Sciences Company Detail
11.7.2 Strand Life Sciences Business Overview
11.7.3 Strand Life Sciences Rare Disease Diagnostics Introduction
11.7.4 Strand Life Sciences Revenue in Rare Disease Diagnostics Business (2019-2024)
11.7.5 Strand Life Sciences Recent Development
12 Analyst's Viewpoints/Conclusions
13 Appendix
13.1 Research Methodology
13.1.1 Methodology/Research Approach
13.1.2 Data Source
13.2 Disclaimer
13.3 Author Details
List of Tables
List of Tables
Table 1. Global Rare Disease Diagnostics Market Size Growth Rate by Type (US$ Million): 2019 VS 2023 VS 2030
Table 2. Key Players of Hematology
Table 3. Key Players of Oncology
Table 4. Global Rare Disease Diagnostics Market Size Growth by Application (US$ Million): 2019 VS 2023 VS 2030
Table 5. Global Rare Disease Diagnostics Market Size by Region (US$ Million): 2019 VS 2023 VS 2030
Table 6. Global Rare Disease Diagnostics Market Size by Region (2019-2024) & (US$ Million)
Table 7. Global Rare Disease Diagnostics Market Share by Region (2019-2024)
Table 8. Global Rare Disease Diagnostics Forecasted Market Size by Region (2025-2030) & (US$ Million)
Table 9. Global Rare Disease Diagnostics Market Share by Region (2025-2030)
Table 10. Rare Disease Diagnostics Market Trends
Table 11. Rare Disease Diagnostics Market Drivers
Table 12. Rare Disease Diagnostics Market Challenges
Table 13. Rare Disease Diagnostics Market Restraints
Table 14. Global Rare Disease Diagnostics Revenue by Players (2019-2024) & (US$ Million)
Table 15. Global Rare Disease Diagnostics Market Share by Players (2019-2024)
Table 16. Global Top Rare Disease Diagnostics Players by Company Type (Tier 1, Tier 2, and Tier 3) & (based on the Revenue in Rare Disease Diagnostics as of 2023)
Table 17. Ranking of Global Top Rare Disease Diagnostics Companies by Revenue (US$ Million) in 2023
Table 18. Global 5 Largest Players Market Share by Rare Disease Diagnostics Revenue (CR5 and HHI) & (2019-2024)
Table 19. Key Players Headquarters and Area Served
Table 20. Key Players Rare Disease Diagnostics Product Solution and Service
Table 21. Date of Enter into Rare Disease Diagnostics Market
Table 22. Mergers & Acquisitions, Expansion Plans
Table 23. Global Rare Disease Diagnostics Market Size by Type (2019-2024) & (US$ Million)
Table 24. Global Rare Disease Diagnostics Revenue Market Share by Type (2019-2024)
Table 25. Global Rare Disease Diagnostics Forecasted Market Size by Type (2025-2030) & (US$ Million)
Table 26. Global Rare Disease Diagnostics Revenue Market Share by Type (2025-2030)
Table 27. Global Rare Disease Diagnostics Market Size by Application (2019-2024) & (US$ Million)
Table 28. Global Rare Disease Diagnostics Revenue Market Share by Application (2019-2024)
Table 29. Global Rare Disease Diagnostics Forecasted Market Size by Application (2025-2030) & (US$ Million)
Table 30. Global Rare Disease Diagnostics Revenue Market Share by Application (2025-2030)
Table 31. North America Rare Disease Diagnostics Market Size Growth Rate by Country (US$ Million): 2019 VS 2023 VS 2030
Table 32. North America Rare Disease Diagnostics Market Size by Country (2019-2024) & (US$ Million)
Table 33. North America Rare Disease Diagnostics Market Size by Country (2025-2030) & (US$ Million)
Table 34. Europe Rare Disease Diagnostics Market Size Growth Rate by Country (US$ Million): 2019 VS 2023 VS 2030
Table 35. Europe Rare Disease Diagnostics Market Size by Country (2019-2024) & (US$ Million)
Table 36. Europe Rare Disease Diagnostics Market Size by Country (2025-2030) & (US$ Million)
Table 37. Asia-Pacific Rare Disease Diagnostics Market Size Growth Rate by Region (US$ Million): 2019 VS 2023 VS 2030
Table 38. Asia-Pacific Rare Disease Diagnostics Market Size by Region (2019-2024) & (US$ Million)
Table 39. Asia-Pacific Rare Disease Diagnostics Market Size by Region (2025-2030) & (US$ Million)
Table 40. Latin America Rare Disease Diagnostics Market Size Growth Rate by Country (US$ Million): 2019 VS 2023 VS 2030
Table 41. Latin America Rare Disease Diagnostics Market Size by Country (2019-2024) & (US$ Million)
Table 42. Latin America Rare Disease Diagnostics Market Size by Country (2025-2030) & (US$ Million)
Table 43. Middle East & Africa Rare Disease Diagnostics Market Size Growth Rate by Country (US$ Million): 2019 VS 2023 VS 2030
Table 44. Middle East & Africa Rare Disease Diagnostics Market Size by Country (2019-2024) & (US$ Million)
Table 45. Middle East & Africa Rare Disease Diagnostics Market Size by Country (2025-2030) & (US$ Million)
Table 46. Retrophin Company Detail
Table 47. Retrophin Business Overview
Table 48. Retrophin Rare Disease Diagnostics Product
Table 49. Retrophin Revenue in Rare Disease Diagnostics Business (2019-2024) & (US$ Million)
Table 50. Retrophin Recent Development
Table 51. 3billion Company Detail
Table 52. 3billion Business Overview
Table 53. 3billion Rare Disease Diagnostics Product
Table 54. 3billion Revenue in Rare Disease Diagnostics Business (2019-2024) & (US$ Million)
Table 55. 3billion Recent Development
Table 56. 23andMe Company Detail
Table 57. 23andMe Business Overview
Table 58. 23andMe Rare Disease Diagnostics Product
Table 59. 23andMe Revenue in Rare Disease Diagnostics Business (2019-2024) & (US$ Million)
Table 60. 23andMe Recent Development
Table 61. QIAGEN Company Detail
Table 62. QIAGEN Business Overview
Table 63. QIAGEN Rare Disease Diagnostics Product
Table 64. QIAGEN Revenue in Rare Disease Diagnostics Business (2019-2024) & (US$ Million)
Table 65. QIAGEN Recent Development
Table 66. Illumina Company Detail
Table 67. Illumina Business Overview
Table 68. Illumina Rare Disease Diagnostics Product
Table 69. Illumina Revenue in Rare Disease Diagnostics Business (2019-2024) & (US$ Million)
Table 70. Illumina Recent Development
Table 71. PerkinElmer Company Detail
Table 72. PerkinElmer Business Overview
Table 73. PerkinElmer Rare Disease Diagnostics Product
Table 74. PerkinElmer Revenue in Rare Disease Diagnostics Business (2019-2024) & (US$ Million)
Table 75. PerkinElmer Recent Development
Table 76. Strand Life Sciences Company Detail
Table 77. Strand Life Sciences Business Overview
Table 78. Strand Life Sciences Rare Disease Diagnostics Product
Table 79. Strand Life Sciences Revenue in Rare Disease Diagnostics Business (2019-2024) & (US$ Million)
Table 80. Strand Life Sciences Recent Development
Table 81. Research Programs/Design for This Report
Table 82. Key Data Information from Secondary Sources
Table 83. Key Data Information from Primary Sources
List of Figures
Figure 1. Global Rare Disease Diagnostics Market Size Comparison by Type (2024-2030) & (US$ Million)
Figure 2. Global Rare Disease Diagnostics Market Share by Type: 2023 VS 2030
Figure 3. Hematology Features
Figure 4. Oncology Features
Figure 5. Global Rare Disease Diagnostics Market Size Comparison by Application (2024-2030) & (US$ Million)
Figure 6. Global Rare Disease Diagnostics Market Share by Application: 2023 VS 2030
Figure 7. Hospital Laboratories Case Studies
Figure 8. Diagnostic Laboratories Case Studies
Figure 9. Genetic Testing Laboratories Case Studies
Figure 10. Cancer Research Laboratories Case Studies
Figure 11. Others Case Studies
Figure 12. Rare Disease Diagnostics Report Years Considered
Figure 13. Global Rare Disease Diagnostics Market Size (US$ Million), Year-over-Year: 2019-2030
Figure 14. Global Rare Disease Diagnostics Market Size, (US$ Million), 2019 VS 2023 VS 2030
Figure 15. Global Rare Disease Diagnostics Market Share by Region: 2023 VS 2030
Figure 16. Global Rare Disease Diagnostics Market Share by Players in 2023
Figure 17. Global Top Rare Disease Diagnostics Players by Company Type (Tier 1, Tier 2, and Tier 3) & (based on the Revenue in Rare Disease Diagnostics as of 2023)
Figure 18. The Top 10 and 5 Players Market Share by Rare Disease Diagnostics Revenue in 2023
Figure 19. North America Rare Disease Diagnostics Market Size YoY Growth (2019-2030) & (US$ Million)
Figure 20. North America Rare Disease Diagnostics Market Share by Country (2019-2030)
Figure 21. United States Rare Disease Diagnostics Market Size YoY Growth (2019-2030) & (US$ Million)
Figure 22. Canada Rare Disease Diagnostics Market Size YoY Growth (2019-2030) & (US$ Million)
Figure 23. Europe Rare Disease Diagnostics Market Size YoY Growth (2019-2030) & (US$ Million)
Figure 24. Europe Rare Disease Diagnostics Market Share by Country (2019-2030)
Figure 25. Germany Rare Disease Diagnostics Market Size YoY Growth (2019-2030) & (US$ Million)
Figure 26. France Rare Disease Diagnostics Market Size YoY Growth (2019-2030) & (US$ Million)
Figure 27. U.K. Rare Disease Diagnostics Market Size YoY Growth (2019-2030) & (US$ Million)
Figure 28. Italy Rare Disease Diagnostics Market Size YoY Growth (2019-2030) & (US$ Million)
Figure 29. Russia Rare Disease Diagnostics Market Size YoY Growth (2019-2030) & (US$ Million)
Figure 30. Nordic Countries Rare Disease Diagnostics Market Size YoY Growth (2019-2030) & (US$ Million)
Figure 31. Asia-Pacific Rare Disease Diagnostics Market Size YoY Growth (2019-2030) & (US$ Million)
Figure 32. Asia-Pacific Rare Disease Diagnostics Market Share by Region (2019-2030)
Figure 33. China Rare Disease Diagnostics Market Size YoY Growth (2019-2030) & (US$ Million)
Figure 34. Japan Rare Disease Diagnostics Market Size YoY Growth (2019-2030) & (US$ Million)
Figure 35. South Korea Rare Disease Diagnostics Market Size YoY Growth (2019-2030) & (US$ Million)
Figure 36. Southeast Asia Rare Disease Diagnostics Market Size YoY Growth (2019-2030) & (US$ Million)
Figure 37. India Rare Disease Diagnostics Market Size YoY Growth (2019-2030) & (US$ Million)
Figure 38. Australia Rare Disease Diagnostics Market Size YoY Growth (2019-2030) & (US$ Million)
Figure 39. Latin America Rare Disease Diagnostics Market Size YoY Growth (2019-2030) & (US$ Million)
Figure 40. Latin America Rare Disease Diagnostics Market Share by Country (2019-2030)
Figure 41. Mexico Rare Disease Diagnostics Market Size YoY Growth (2019-2030) & (US$ Million)
Figure 42. Brazil Rare Disease Diagnostics Market Size YoY Growth (2019-2030) & (US$ Million)
Figure 43. Middle East & Africa Rare Disease Diagnostics Market Size YoY Growth (2019-2030) & (US$ Million)
Figure 44. Middle East & Africa Rare Disease Diagnostics Market Share by Country (2019-2030)
Figure 45. Turkey Rare Disease Diagnostics Market Size YoY Growth (2019-2030) & (US$ Million)
Figure 46. Saudi Arabia Rare Disease Diagnostics Market Size YoY Growth (2019-2030) & (US$ Million)
Figure 47. Retrophin Revenue Growth Rate in Rare Disease Diagnostics Business (2019-2024)
Figure 48. 3billion Revenue Growth Rate in Rare Disease Diagnostics Business (2019-2024)
Figure 49. 23andMe Revenue Growth Rate in Rare Disease Diagnostics Business (2019-2024)
Figure 50. QIAGEN Revenue Growth Rate in Rare Disease Diagnostics Business (2019-2024)
Figure 51. Illumina Revenue Growth Rate in Rare Disease Diagnostics Business (2019-2024)
Figure 52. PerkinElmer Revenue Growth Rate in Rare Disease Diagnostics Business (2019-2024)
Figure 53. Strand Life Sciences Revenue Growth Rate in Rare Disease Diagnostics Business (2019-2024)
Figure 54. Bottom-up and Top-down Approaches for This Report
Figure 55. Data Triangulation
Figure 56. Key Executives Interviewed

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