Global Rare Disease Diagnostics Market Research Report 2023

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$ 22460 million in 2022 and is anticipated to reach US$ 36260 million by 2029, witnessing a CAGR of 8.3% during the forecast period 2023-2029. The influence of COVID-19 and the Russia-Ukraine War were considered while estimating market sizes.

North American market for Rare Disease Diagnostics is estimated to increase from $ million in 2023 to reach $ million by 2029, at a CAGR of % during the forecast period of 2023 through 2029.

Asia-Pacific market for Rare Disease Diagnostics is estimated to increase from $ million in 2023 to reach $ million by 2029, at a CAGR of % during the forecast period of 2023 through 2029.

The global market for Rare Disease Diagnostics in Hospital Laboratories is estimated to increase from $ million in 2023 to $ million by 2029, at a CAGR of % during the forecast period of 2023 through 2029.

The key global companies of Rare Disease Diagnostics include Retrophin, 3billion, 23andMe, QIAGEN, Illumina, PerkinElmer and Strand Life Sciences, etc. In 2022, the world's top three vendors accounted for approximately % of the revenue.

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.

The Rare Disease Diagnostics market size, estimations, and forecasts are provided in terms of and revenue ($ millions), considering 2022 as the base year, with history and forecast data for the period from 2018 to 2029. 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 for the overall market and the sub-segments across the different segments, by company, by type, by application, and by regions.

1.1 Study Scope

1.2 Market Analysis by Type

1.2.1 Global Rare Disease Diagnostics Market Size Growth Rate by Type: 2018 VS 2022 VS 2029

1.2.2 Hematology

1.2.3 Oncology

1.3 Market by Application

1.3.1 Global Rare Disease Diagnostics Market Growth by Application: 2018 VS 2022 VS 2029

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

2.1 Global Rare Disease Diagnostics Market Perspective (2018-2029)

2.2 Rare Disease Diagnostics Growth Trends by Region

2.2.1 Global Rare Disease Diagnostics Market Size by Region: 2018 VS 2022 VS 2029

2.2.2 Rare Disease Diagnostics Historic Market Size by Region (2018-2023)

2.2.3 Rare Disease Diagnostics Forecasted Market Size by Region (2024-2029)

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

3.1 Global Top Rare Disease Diagnostics Players by Revenue

3.1.1 Global Top Rare Disease Diagnostics Players by Revenue (2018-2023)

3.1.2 Global Rare Disease Diagnostics Revenue Market Share by Players (2018-2023)

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 2022

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

4.1 Global Rare Disease Diagnostics Historic Market Size by Type (2018-2023)

4.2 Global Rare Disease Diagnostics Forecasted Market Size by Type (2024-2029)

5.1 Global Rare Disease Diagnostics Historic Market Size by Application (2018-2023)

5.2 Global Rare Disease Diagnostics Forecasted Market Size by Application (2024-2029)

6.1 North America Rare Disease Diagnostics Market Size (2018-2029)

6.2 North America Rare Disease Diagnostics Market Growth Rate by Country: 2018 VS 2022 VS 2029

6.3 North America Rare Disease Diagnostics Market Size by Country (2018-2023)

6.4 North America Rare Disease Diagnostics Market Size by Country (2024-2029)

6.5 United States

6.6 Canada

7.1 Europe Rare Disease Diagnostics Market Size (2018-2029)

7.2 Europe Rare Disease Diagnostics Market Growth Rate by Country: 2018 VS 2022 VS 2029

7.3 Europe Rare Disease Diagnostics Market Size by Country (2018-2023)

7.4 Europe Rare Disease Diagnostics Market Size by Country (2024-2029)

7.5 Germany

7.6 France

7.7 U.K.

7.8 Italy

7.9 Russia

7.10 Nordic Countries

8.1 Asia-Pacific Rare Disease Diagnostics Market Size (2018-2029)

8.2 Asia-Pacific Rare Disease Diagnostics Market Growth Rate by Region: 2018 VS 2022 VS 2029

8.3 Asia-Pacific Rare Disease Diagnostics Market Size by Region (2018-2023)

8.4 Asia-Pacific Rare Disease Diagnostics Market Size by Region (2024-2029)

8.5 China

8.6 Japan

8.7 South Korea

8.8 Southeast Asia

8.9 India

8.10 Australia

9.1 Latin America Rare Disease Diagnostics Market Size (2018-2029)

9.2 Latin America Rare Disease Diagnostics Market Growth Rate by Country: 2018 VS 2022 VS 2029

9.3 Latin America Rare Disease Diagnostics Market Size by Country (2018-2023)

9.4 Latin America Rare Disease Diagnostics Market Size by Country (2024-2029)

9.5 Mexico

9.6 Brazil

10.1 Middle East & Africa Rare Disease Diagnostics Market Size (2018-2029)

10.2 Middle East & Africa Rare Disease Diagnostics Market Growth Rate by Country: 2018 VS 2022 VS 2029

10.3 Middle East & Africa Rare Disease Diagnostics Market Size by Country (2018-2023)

10.4 Middle East & Africa Rare Disease Diagnostics Market Size by Country (2024-2029)

10.5 Turkey

10.6 Saudi Arabia

10.7 UAE

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 (2018-2023)

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 (2018-2023)

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 (2018-2023)

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 (2018-2023)

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 (2018-2023)

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 (2018-2023)

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 (2018-2023)

11.7.5 Strand Life Sciences Recent Development

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

    Table 1. Global Rare Disease Diagnostics Market Size Growth Rate by Type (US$ Million): 2018 VS 2022 VS 2029

    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): 2018 VS 2022 VS 2029

    Table 5. Global Rare Disease Diagnostics Market Size by Region (US$ Million): 2018 VS 2022 VS 2029

    Table 6. Global Rare Disease Diagnostics Market Size by Region (2018-2023) & (US$ Million)

    Table 7. Global Rare Disease Diagnostics Market Share by Region (2018-2023)

    Table 8. Global Rare Disease Diagnostics Forecasted Market Size by Region (2024-2029) & (US$ Million)

    Table 9. Global Rare Disease Diagnostics Market Share by Region (2024-2029)

    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 (2018-2023) & (US$ Million)

    Table 15. Global Rare Disease Diagnostics Market Share by Players (2018-2023)

    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 2022)

    Table 17. Ranking of Global Top Rare Disease Diagnostics Companies by Revenue (US$ Million) in 2022

    Table 18. Global 5 Largest Players Market Share by Rare Disease Diagnostics Revenue (CR5 and HHI) & (2018-2023)

    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 (2018-2023) & (US$ Million)

    Table 24. Global Rare Disease Diagnostics Revenue Market Share by Type (2018-2023)

    Table 25. Global Rare Disease Diagnostics Forecasted Market Size by Type (2024-2029) & (US$ Million)

    Table 26. Global Rare Disease Diagnostics Revenue Market Share by Type (2024-2029)

    Table 27. Global Rare Disease Diagnostics Market Size by Application (2018-2023) & (US$ Million)

    Table 28. Global Rare Disease Diagnostics Revenue Market Share by Application (2018-2023)

    Table 29. Global Rare Disease Diagnostics Forecasted Market Size by Application (2024-2029) & (US$ Million)

    Table 30. Global Rare Disease Diagnostics Revenue Market Share by Application (2024-2029)

    Table 31. North America Rare Disease Diagnostics Market Size Growth Rate by Country (US$ Million): 2018 VS 2022 VS 2029

    Table 32. North America Rare Disease Diagnostics Market Size by Country (2018-2023) & (US$ Million)

    Table 33. North America Rare Disease Diagnostics Market Size by Country (2024-2029) & (US$ Million)

    Table 34. Europe Rare Disease Diagnostics Market Size Growth Rate by Country (US$ Million): 2018 VS 2022 VS 2029

    Table 35. Europe Rare Disease Diagnostics Market Size by Country (2018-2023) & (US$ Million)

    Table 36. Europe Rare Disease Diagnostics Market Size by Country (2024-2029) & (US$ Million)

    Table 37. Asia-Pacific Rare Disease Diagnostics Market Size Growth Rate by Region (US$ Million): 2018 VS 2022 VS 2029

    Table 38. Asia-Pacific Rare Disease Diagnostics Market Size by Region (2018-2023) & (US$ Million)

    Table 39. Asia-Pacific Rare Disease Diagnostics Market Size by Region (2024-2029) & (US$ Million)

    Table 40. Latin America Rare Disease Diagnostics Market Size Growth Rate by Country (US$ Million): 2018 VS 2022 VS 2029

    Table 41. Latin America Rare Disease Diagnostics Market Size by Country (2018-2023) & (US$ Million)

    Table 42. Latin America Rare Disease Diagnostics Market Size by Country (2024-2029) & (US$ Million)

    Table 43. Middle East & Africa Rare Disease Diagnostics Market Size Growth Rate by Country (US$ Million): 2018 VS 2022 VS 2029

    Table 44. Middle East & Africa Rare Disease Diagnostics Market Size by Country (2018-2023) & (US$ Million)

    Table 45. Middle East & Africa Rare Disease Diagnostics Market Size by Country (2024-2029) & (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 (2018-2023) & (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 (2018-2023) & (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 (2018-2023) & (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 (2018-2023) & (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 (2018-2023) & (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 (2018-2023) & (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 (2018-2023) & (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 (2023-2029) & (US$ Million)

    Figure 2. Global Rare Disease Diagnostics Market Share by Type: 2022 VS 2029

    Figure 3. Hematology Features

    Figure 4. Oncology Features

    Figure 5. Global Rare Disease Diagnostics Market Size Comparison by Application (2023-2029) & (US$ Million)

    Figure 6. Global Rare Disease Diagnostics Market Share by Application: 2022 VS 2029

    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: 2018-2029

    Figure 14. Global Rare Disease Diagnostics Market Size, (US$ Million), 2018 VS 2022 VS 2029

    Figure 15. Global Rare Disease Diagnostics Market Share by Region: 2022 VS 2029

    Figure 16. Global Rare Disease Diagnostics Market Share by Players in 2022

    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 2022)

    Figure 18. The Top 10 and 5 Players Market Share by Rare Disease Diagnostics Revenue in 2022

    Figure 19. North America Rare Disease Diagnostics Market Size YoY Growth (2018-2029) & (US$ Million)

    Figure 20. North America Rare Disease Diagnostics Market Share by Country (2018-2029)

    Figure 21. United States Rare Disease Diagnostics Market Size YoY Growth (2018-2029) & (US$ Million)

    Figure 22. Canada Rare Disease Diagnostics Market Size YoY Growth (2018-2029) & (US$ Million)

    Figure 23. Europe Rare Disease Diagnostics Market Size YoY Growth (2018-2029) & (US$ Million)

    Figure 24. Europe Rare Disease Diagnostics Market Share by Country (2018-2029)

    Figure 25. Germany Rare Disease Diagnostics Market Size YoY Growth (2018-2029) & (US$ Million)

    Figure 26. France Rare Disease Diagnostics Market Size YoY Growth (2018-2029) & (US$ Million)

    Figure 27. U.K. Rare Disease Diagnostics Market Size YoY Growth (2018-2029) & (US$ Million)

    Figure 28. Italy Rare Disease Diagnostics Market Size YoY Growth (2018-2029) & (US$ Million)

    Figure 29. Russia Rare Disease Diagnostics Market Size YoY Growth (2018-2029) & (US$ Million)

    Figure 30. Nordic Countries Rare Disease Diagnostics Market Size YoY Growth (2018-2029) & (US$ Million)

    Figure 31. Asia-Pacific Rare Disease Diagnostics Market Size YoY Growth (2018-2029) & (US$ Million)

    Figure 32. Asia-Pacific Rare Disease Diagnostics Market Share by Region (2018-2029)

    Figure 33. China Rare Disease Diagnostics Market Size YoY Growth (2018-2029) & (US$ Million)

    Figure 34. Japan Rare Disease Diagnostics Market Size YoY Growth (2018-2029) & (US$ Million)

    Figure 35. South Korea Rare Disease Diagnostics Market Size YoY Growth (2018-2029) & (US$ Million)

    Figure 36. Southeast Asia Rare Disease Diagnostics Market Size YoY Growth (2018-2029) & (US$ Million)

    Figure 37. India Rare Disease Diagnostics Market Size YoY Growth (2018-2029) & (US$ Million)

    Figure 38. Australia Rare Disease Diagnostics Market Size YoY Growth (2018-2029) & (US$ Million)

    Figure 39. Latin America Rare Disease Diagnostics Market Size YoY Growth (2018-2029) & (US$ Million)

    Figure 40. Latin America Rare Disease Diagnostics Market Share by Country (2018-2029)

    Figure 41. Mexico Rare Disease Diagnostics Market Size YoY Growth (2018-2029) & (US$ Million)

    Figure 42. Brazil Rare Disease Diagnostics Market Size YoY Growth (2018-2029) & (US$ Million)

    Figure 43. Middle East & Africa Rare Disease Diagnostics Market Size YoY Growth (2018-2029) & (US$ Million)

    Figure 44. Middle East & Africa Rare Disease Diagnostics Market Share by Country (2018-2029)

    Figure 45. Turkey Rare Disease Diagnostics Market Size YoY Growth (2018-2029) & (US$ Million)

    Figure 46. Saudi Arabia Rare Disease Diagnostics Market Size YoY Growth (2018-2029) & (US$ Million)

    Figure 47. Retrophin Revenue Growth Rate in Rare Disease Diagnostics Business (2018-2023)

    Figure 48. 3billion Revenue Growth Rate in Rare Disease Diagnostics Business (2018-2023)

    Figure 49. 23andMe Revenue Growth Rate in Rare Disease Diagnostics Business (2018-2023)

    Figure 50. QIAGEN Revenue Growth Rate in Rare Disease Diagnostics Business (2018-2023)

    Figure 51. Illumina Revenue Growth Rate in Rare Disease Diagnostics Business (2018-2023)

    Figure 52. PerkinElmer Revenue Growth Rate in Rare Disease Diagnostics Business (2018-2023)

    Figure 53. Strand Life Sciences Revenue Growth Rate in Rare Disease Diagnostics Business (2018-2023)

    Figure 54. Bottom-up and Top-down Approaches for This Report

    Figure 55. Data Triangulation

    Figure 56. Key Executives Interviewed