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Global Rare Disease Genetic Testing Market Research Report 2025
Published Date: July 2025
|
Report Code: QYRE-Auto-17F6013
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Global Rare Disease Genetic Testing Market Insights Forecast to 2028
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Global Rare Disease Genetic Testing Market Research Report 2025

Code: QYRE-Auto-17F6013
Report
July 2025
Pages:95
QYResearch
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DESCRIPTION
TABLE OF CONTENT
TABLES & FIGURES
FEATURED COMPANIES
Quest Diagnostics
CENTOGENE
Invitae Corporation
3Billion Inc.
ARUP Laboratories
Eurofins Scientific
Strand Life Sciences
Ambry Genetics
Perkin Elmer
Macrogen
Baylor Genetics
Color Genomics
PreventionGenetics
Progenity，Inc
CooperSurgical
Fulgent Genetics
Myriad Genetics
LabCorp
OPKO Health

Rare Disease Genetic Testing Market

The global market for Rare Disease Genetic Testing was valued at US$ million in the year 2024 and is projected to reach a revised size of US$ million by 2031, growing at a CAGR of %during the forecast period.
North American market for Rare Disease Genetic Testing is estimated to increase from $ million in 2024 to reach $ million by 2031, at a CAGR of % during the forecast period of 2025 through 2031.
Asia-Pacific market for Rare Disease Genetic Testing is estimated to increase from $ million in 2024 to reach $ million by 2031, at a CAGR of % during the forecast period of 2025 through 2031.
The global market for Rare Disease Genetic Testing in Research Laboratories and CROs is estimated to increase from $ million in 2024 to $ million by 2031, at a CAGR of % during the forecast period of 2025 through 2031.
The major global companies of Rare Disease Genetic Testing include Quest Diagnostics, Centogene, Invitae Corporation, 3billion, Arup Laboratories, Eurofins Scientific, Strand Life Sciences, Ambry Genetics, Perkin Elmer, Macrogen, etc. In 2024, 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 Genetic Testing, 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 Genetic Testing.
The Rare Disease Genetic Testing market size, estimations, and forecasts are provided in terms of and revenue ($ millions), considering 2024 as the base year, with history and forecast data for the period from 2020 to 2031. This report segments the global Rare Disease Genetic Testing 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 Genetic Testing 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.
Market Segmentation

Scope of Rare Disease Genetic Testing Market Report

Report Metric Details
Report Name Rare Disease Genetic Testing Market
Segment by Type
  • Next-Generation Sequencing (NGS)
  • Array Technology
  • PCR-based Testing
  • Fluorescence in Situ Hybridization (FISH)
  • Sanger Sequencing
  • Karyotyping
  • Others
Segment by Application
  • Research Laboratories and CROs
  • Diagnostic Laboratories
  • Hospitals and Clinics
  • Others
By Region
  • North America (United States, Canada)
  • Europe (Germany, France, UK, Italy, Russia) Rest of Europe
  • Nordic Countries
  • 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)
By Company Quest Diagnostics, Centogene, Invitae Corporation, 3billion, Arup Laboratories, Eurofins Scientific, Strand Life Sciences, Ambry Genetics, Perkin Elmer, Macrogen, Baylor Genetics, Color Genomics, Preventiongenetics, Progenity, Coopersurgical, Fulgent Genetics, Myriad Genetics, LabCorp, Opko Health
Forecast units USD million in value
Report coverage Revenue and volume forecast, company share, competitive landscape, growth factors and trends

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 Genetic Testing company 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.

FAQ for this report

Who are the main players in the Rare Disease Genetic Testing Market report?

Ans: The main players in the Rare Disease Genetic Testing Market are Quest Diagnostics, Centogene, Invitae Corporation, 3billion, Arup Laboratories, Eurofins Scientific, Strand Life Sciences, Ambry Genetics, Perkin Elmer, Macrogen, Baylor Genetics, Color Genomics, Preventiongenetics, Progenity, Coopersurgical, Fulgent Genetics, Myriad Genetics, LabCorp, Opko Health

What are the Application segmentation covered in the Rare Disease Genetic Testing Market report?

Ans: The Applications covered in the Rare Disease Genetic Testing Market report are Research Laboratories and CROs, Diagnostic Laboratories, Hospitals and Clinics, Others

What are the Type segmentation covered in the Rare Disease Genetic Testing Market report?

Ans: The Types covered in the Rare Disease Genetic Testing Market report are Next-Generation Sequencing (NGS), Array Technology, PCR-based Testing, Fluorescence in Situ Hybridization (FISH), Sanger Sequencing, Karyotyping, Others

1 Report Overview
1.1 Study Scope
1.2 Market Analysis by Type
1.2.1 Global Rare Disease Genetic Testing Market Size Growth Rate by Type: 2020 VS 2024 VS 2031
1.2.2 Next-Generation Sequencing (NGS)
1.2.3 Array Technology
1.2.4 PCR-based Testing
1.2.5 Fluorescence in Situ Hybridization (FISH)
1.2.6 Sanger Sequencing
1.2.7 Karyotyping
1.2.8 Others
1.3 Market by Application
1.3.1 Global Rare Disease Genetic Testing Market Growth by Application: 2020 VS 2024 VS 2031
1.3.2 Research Laboratories and CROs
1.3.3 Diagnostic Laboratories
1.3.4 Hospitals and Clinics
1.3.5 Others
1.4 Assumptions and Limitations
1.5 Study Objectives
1.6 Years Considered
2 Global Growth Trends
2.1 Global Rare Disease Genetic Testing Market Perspective (2020-2031)
2.2 Global Rare Disease Genetic Testing Growth Trends by Region
2.2.1 Global Rare Disease Genetic Testing Market Size by Region: 2020 VS 2024 VS 2031
2.2.2 Rare Disease Genetic Testing Historic Market Size by Region (2020-2025)
2.2.3 Rare Disease Genetic Testing Forecasted Market Size by Region (2026-2031)
2.3 Rare Disease Genetic Testing Market Dynamics
2.3.1 Rare Disease Genetic Testing Industry Trends
2.3.2 Rare Disease Genetic Testing Market Drivers
2.3.3 Rare Disease Genetic Testing Market Challenges
2.3.4 Rare Disease Genetic Testing Market Restraints
3 Competition Landscape by Key Players
3.1 Global Top Rare Disease Genetic Testing Players by Revenue
3.1.1 Global Top Rare Disease Genetic Testing Players by Revenue (2020-2025)
3.1.2 Global Rare Disease Genetic Testing Revenue Market Share by Players (2020-2025)
3.2 Global Rare Disease Genetic Testing Market Share by Company Type (Tier 1, Tier 2, and Tier 3)
3.3 Global Key Players Ranking by Rare Disease Genetic Testing Revenue
3.4 Global Rare Disease Genetic Testing Market Concentration Ratio
3.4.1 Global Rare Disease Genetic Testing Market Concentration Ratio (CR5 and HHI)
3.4.2 Global Top 10 and Top 5 Companies by Rare Disease Genetic Testing Revenue in 2024
3.5 Global Key Players of Rare Disease Genetic Testing Head office and Area Served
3.6 Global Key Players of Rare Disease Genetic Testing, Product and Application
3.7 Global Key Players of Rare Disease Genetic Testing, Date of Enter into This Industry
3.8 Mergers & Acquisitions, Expansion Plans
4 Rare Disease Genetic Testing Breakdown Data by Type
4.1 Global Rare Disease Genetic Testing Historic Market Size by Type (2020-2025)
4.2 Global Rare Disease Genetic Testing Forecasted Market Size by Type (2026-2031)
5 Rare Disease Genetic Testing Breakdown Data by Application
5.1 Global Rare Disease Genetic Testing Historic Market Size by Application (2020-2025)
5.2 Global Rare Disease Genetic Testing Forecasted Market Size by Application (2026-2031)
6 North America
6.1 North America Rare Disease Genetic Testing Market Size (2020-2031)
6.2 North America Rare Disease Genetic Testing Market Growth Rate by Country: 2020 VS 2024 VS 2031
6.3 North America Rare Disease Genetic Testing Market Size by Country (2020-2025)
6.4 North America Rare Disease Genetic Testing Market Size by Country (2026-2031)
6.5 United States
6.6 Canada
7 Europe
7.1 Europe Rare Disease Genetic Testing Market Size (2020-2031)
7.2 Europe Rare Disease Genetic Testing Market Growth Rate by Country: 2020 VS 2024 VS 2031
7.3 Europe Rare Disease Genetic Testing Market Size by Country (2020-2025)
7.4 Europe Rare Disease Genetic Testing Market Size by Country (2026-2031)
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 Genetic Testing Market Size (2020-2031)
8.2 Asia-Pacific Rare Disease Genetic Testing Market Growth Rate by Region: 2020 VS 2024 VS 2031
8.3 Asia-Pacific Rare Disease Genetic Testing Market Size by Region (2020-2025)
8.4 Asia-Pacific Rare Disease Genetic Testing Market Size by Region (2026-2031)
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 Genetic Testing Market Size (2020-2031)
9.2 Latin America Rare Disease Genetic Testing Market Growth Rate by Country: 2020 VS 2024 VS 2031
9.3 Latin America Rare Disease Genetic Testing Market Size by Country (2020-2025)
9.4 Latin America Rare Disease Genetic Testing Market Size by Country (2026-2031)
9.5 Mexico
9.6 Brazil
10 Middle East & Africa
10.1 Middle East & Africa Rare Disease Genetic Testing Market Size (2020-2031)
10.2 Middle East & Africa Rare Disease Genetic Testing Market Growth Rate by Country: 2020 VS 2024 VS 2031
10.3 Middle East & Africa Rare Disease Genetic Testing Market Size by Country (2020-2025)
10.4 Middle East & Africa Rare Disease Genetic Testing Market Size by Country (2026-2031)
10.5 Turkey
10.6 Saudi Arabia
10.7 UAE
11 Key Players Profiles
11.1 Quest Diagnostics
11.1.1 Quest Diagnostics Company Details
11.1.2 Quest Diagnostics Business Overview
11.1.3 Quest Diagnostics Rare Disease Genetic Testing Introduction
11.1.4 Quest Diagnostics Revenue in Rare Disease Genetic Testing Business (2020-2025)
11.1.5 Quest Diagnostics Recent Development
11.2 Centogene
11.2.1 Centogene Company Details
11.2.2 Centogene Business Overview
11.2.3 Centogene Rare Disease Genetic Testing Introduction
11.2.4 Centogene Revenue in Rare Disease Genetic Testing Business (2020-2025)
11.2.5 Centogene Recent Development
11.3 Invitae Corporation
11.3.1 Invitae Corporation Company Details
11.3.2 Invitae Corporation Business Overview
11.3.3 Invitae Corporation Rare Disease Genetic Testing Introduction
11.3.4 Invitae Corporation Revenue in Rare Disease Genetic Testing Business (2020-2025)
11.3.5 Invitae Corporation Recent Development
11.4 3billion
11.4.1 3billion Company Details
11.4.2 3billion Business Overview
11.4.3 3billion Rare Disease Genetic Testing Introduction
11.4.4 3billion Revenue in Rare Disease Genetic Testing Business (2020-2025)
11.4.5 3billion Recent Development
11.5 Arup Laboratories
11.5.1 Arup Laboratories Company Details
11.5.2 Arup Laboratories Business Overview
11.5.3 Arup Laboratories Rare Disease Genetic Testing Introduction
11.5.4 Arup Laboratories Revenue in Rare Disease Genetic Testing Business (2020-2025)
11.5.5 Arup Laboratories Recent Development
11.6 Eurofins Scientific
11.6.1 Eurofins Scientific Company Details
11.6.2 Eurofins Scientific Business Overview
11.6.3 Eurofins Scientific Rare Disease Genetic Testing Introduction
11.6.4 Eurofins Scientific Revenue in Rare Disease Genetic Testing Business (2020-2025)
11.6.5 Eurofins Scientific Recent Development
11.7 Strand Life Sciences
11.7.1 Strand Life Sciences Company Details
11.7.2 Strand Life Sciences Business Overview
11.7.3 Strand Life Sciences Rare Disease Genetic Testing Introduction
11.7.4 Strand Life Sciences Revenue in Rare Disease Genetic Testing Business (2020-2025)
11.7.5 Strand Life Sciences Recent Development
11.8 Ambry Genetics
11.8.1 Ambry Genetics Company Details
11.8.2 Ambry Genetics Business Overview
11.8.3 Ambry Genetics Rare Disease Genetic Testing Introduction
11.8.4 Ambry Genetics Revenue in Rare Disease Genetic Testing Business (2020-2025)
11.8.5 Ambry Genetics Recent Development
11.9 Perkin Elmer
11.9.1 Perkin Elmer Company Details
11.9.2 Perkin Elmer Business Overview
11.9.3 Perkin Elmer Rare Disease Genetic Testing Introduction
11.9.4 Perkin Elmer Revenue in Rare Disease Genetic Testing Business (2020-2025)
11.9.5 Perkin Elmer Recent Development
11.10 Macrogen
11.10.1 Macrogen Company Details
11.10.2 Macrogen Business Overview
11.10.3 Macrogen Rare Disease Genetic Testing Introduction
11.10.4 Macrogen Revenue in Rare Disease Genetic Testing Business (2020-2025)
11.10.5 Macrogen Recent Development
11.11 Baylor Genetics
11.11.1 Baylor Genetics Company Details
11.11.2 Baylor Genetics Business Overview
11.11.3 Baylor Genetics Rare Disease Genetic Testing Introduction
11.11.4 Baylor Genetics Revenue in Rare Disease Genetic Testing Business (2020-2025)
11.11.5 Baylor Genetics Recent Development
11.12 Color Genomics
11.12.1 Color Genomics Company Details
11.12.2 Color Genomics Business Overview
11.12.3 Color Genomics Rare Disease Genetic Testing Introduction
11.12.4 Color Genomics Revenue in Rare Disease Genetic Testing Business (2020-2025)
11.12.5 Color Genomics Recent Development
11.13 Preventiongenetics
11.13.1 Preventiongenetics Company Details
11.13.2 Preventiongenetics Business Overview
11.13.3 Preventiongenetics Rare Disease Genetic Testing Introduction
11.13.4 Preventiongenetics Revenue in Rare Disease Genetic Testing Business (2020-2025)
11.13.5 Preventiongenetics Recent Development
11.14 Progenity
11.14.1 Progenity Company Details
11.14.2 Progenity Business Overview
11.14.3 Progenity Rare Disease Genetic Testing Introduction
11.14.4 Progenity Revenue in Rare Disease Genetic Testing Business (2020-2025)
11.14.5 Progenity Recent Development
11.15 Coopersurgical
11.15.1 Coopersurgical Company Details
11.15.2 Coopersurgical Business Overview
11.15.3 Coopersurgical Rare Disease Genetic Testing Introduction
11.15.4 Coopersurgical Revenue in Rare Disease Genetic Testing Business (2020-2025)
11.15.5 Coopersurgical Recent Development
11.16 Fulgent Genetics
11.16.1 Fulgent Genetics Company Details
11.16.2 Fulgent Genetics Business Overview
11.16.3 Fulgent Genetics Rare Disease Genetic Testing Introduction
11.16.4 Fulgent Genetics Revenue in Rare Disease Genetic Testing Business (2020-2025)
11.16.5 Fulgent Genetics Recent Development
11.17 Myriad Genetics
11.17.1 Myriad Genetics Company Details
11.17.2 Myriad Genetics Business Overview
11.17.3 Myriad Genetics Rare Disease Genetic Testing Introduction
11.17.4 Myriad Genetics Revenue in Rare Disease Genetic Testing Business (2020-2025)
11.17.5 Myriad Genetics Recent Development
11.18 LabCorp
11.18.1 LabCorp Company Details
11.18.2 LabCorp Business Overview
11.18.3 LabCorp Rare Disease Genetic Testing Introduction
11.18.4 LabCorp Revenue in Rare Disease Genetic Testing Business (2020-2025)
11.18.5 LabCorp Recent Development
11.19 Opko Health
11.19.1 Opko Health Company Details
11.19.2 Opko Health Business Overview
11.19.3 Opko Health Rare Disease Genetic Testing Introduction
11.19.4 Opko Health Revenue in Rare Disease Genetic Testing Business (2020-2025)
11.19.5 Opko Health Recent Development
12 Analyst's Viewpoints/Conclusions
13 Appendix
13.1 Research Methodology
13.1.1 Methodology/Research Approach
13.1.1.1 Research Programs/Design
13.1.1.2 Market Size Estimation
13.1.1.3 Market Breakdown and Data Triangulation
13.1.2 Data Source
13.1.2.1 Secondary Sources
13.1.2.2 Primary Sources
13.2 Author Details
13.3 Disclaimer
FEATURED COMPANIES
Quest Diagnostics
CENTOGENE
Invitae Corporation
3Billion Inc.
ARUP Laboratories
Eurofins Scientific
Strand Life Sciences
Ambry Genetics
Perkin Elmer
Macrogen
Baylor Genetics
Color Genomics
PreventionGenetics
Progenity，Inc
CooperSurgical
Fulgent Genetics
Myriad Genetics
LabCorp
OPKO Health
List of Tables
 Table 1. Global Rare Disease Genetic Testing Market Size Growth Rate by Type (US$ Million): 2020 VS 2024 VS 2031
 Table 2. Key Players of Next-Generation Sequencing (NGS)
 Table 3. Key Players of Array Technology
 Table 4. Key Players of PCR-based Testing
 Table 5. Key Players of Fluorescence in Situ Hybridization (FISH)
 Table 6. Key Players of Sanger Sequencing
 Table 7. Key Players of Karyotyping
 Table 8. Key Players of Others
 Table 9. Global Rare Disease Genetic Testing Market Size Growth by Application (US$ Million): 2020 VS 2024 VS 2031
 Table 10. Global Rare Disease Genetic Testing Market Size by Region (US$ Million): 2020 VS 2024 VS 2031
 Table 11. Global Rare Disease Genetic Testing Market Size by Region (2020-2025) & (US$ Million)
 Table 12. Global Rare Disease Genetic Testing Market Share by Region (2020-2025)
 Table 13. Global Rare Disease Genetic Testing Forecasted Market Size by Region (2026-2031) & (US$ Million)
 Table 14. Global Rare Disease Genetic Testing Market Share by Region (2026-2031)
 Table 15. Rare Disease Genetic Testing Market Trends
 Table 16. Rare Disease Genetic Testing Market Drivers
 Table 17. Rare Disease Genetic Testing Market Challenges
 Table 18. Rare Disease Genetic Testing Market Restraints
 Table 19. Global Rare Disease Genetic Testing Revenue by Players (2020-2025) & (US$ Million)
 Table 20. Global Rare Disease Genetic Testing Market Share by Players (2020-2025)
 Table 21. Global Top Rare Disease Genetic Testing Players by Company Type (Tier 1, Tier 2, and Tier 3) & (based on the Revenue in Rare Disease Genetic Testing as of 2024)
 Table 22. Ranking of Global Top Rare Disease Genetic Testing Companies by Revenue (US$ Million) in 2024
 Table 23. Global 5 Largest Players Market Share by Rare Disease Genetic Testing Revenue (CR5 and HHI) & (2020-2025)
 Table 24. Global Key Players of Rare Disease Genetic Testing, Headquarters and Area Served
 Table 25. Global Key Players of Rare Disease Genetic Testing, Product and Application
 Table 26. Global Key Players of Rare Disease Genetic Testing, Date of Enter into This Industry
 Table 27. Mergers & Acquisitions, Expansion Plans
 Table 28. Global Rare Disease Genetic Testing Market Size by Type (2020-2025) & (US$ Million)
 Table 29. Global Rare Disease Genetic Testing Revenue Market Share by Type (2020-2025)
 Table 30. Global Rare Disease Genetic Testing Forecasted Market Size by Type (2026-2031) & (US$ Million)
 Table 31. Global Rare Disease Genetic Testing Revenue Market Share by Type (2026-2031)
 Table 32. Global Rare Disease Genetic Testing Market Size by Application (2020-2025) & (US$ Million)
 Table 33. Global Rare Disease Genetic Testing Revenue Market Share by Application (2020-2025)
 Table 34. Global Rare Disease Genetic Testing Forecasted Market Size by Application (2026-2031) & (US$ Million)
 Table 35. Global Rare Disease Genetic Testing Revenue Market Share by Application (2026-2031)
 Table 36. North America Rare Disease Genetic Testing Market Size Growth Rate by Country (US$ Million): 2020 VS 2024 VS 2031
 Table 37. North America Rare Disease Genetic Testing Market Size by Country (2020-2025) & (US$ Million)
 Table 38. North America Rare Disease Genetic Testing Market Size by Country (2026-2031) & (US$ Million)
 Table 39. Europe Rare Disease Genetic Testing Market Size Growth Rate by Country (US$ Million): 2020 VS 2024 VS 2031
 Table 40. Europe Rare Disease Genetic Testing Market Size by Country (2020-2025) & (US$ Million)
 Table 41. Europe Rare Disease Genetic Testing Market Size by Country (2026-2031) & (US$ Million)
 Table 42. Asia-Pacific Rare Disease Genetic Testing Market Size Growth Rate by Region (US$ Million): 2020 VS 2024 VS 2031
 Table 43. Asia-Pacific Rare Disease Genetic Testing Market Size by Region (2020-2025) & (US$ Million)
 Table 44. Asia-Pacific Rare Disease Genetic Testing Market Size by Region (2026-2031) & (US$ Million)
 Table 45. Latin America Rare Disease Genetic Testing Market Size Growth Rate by Country (US$ Million): 2020 VS 2024 VS 2031
 Table 46. Latin America Rare Disease Genetic Testing Market Size by Country (2020-2025) & (US$ Million)
 Table 47. Latin America Rare Disease Genetic Testing Market Size by Country (2026-2031) & (US$ Million)
 Table 48. Middle East & Africa Rare Disease Genetic Testing Market Size Growth Rate by Country (US$ Million): 2020 VS 2024 VS 2031
 Table 49. Middle East & Africa Rare Disease Genetic Testing Market Size by Country (2020-2025) & (US$ Million)
 Table 50. Middle East & Africa Rare Disease Genetic Testing Market Size by Country (2026-2031) & (US$ Million)
 Table 51. Quest Diagnostics Company Details
 Table 52. Quest Diagnostics Business Overview
 Table 53. Quest Diagnostics Rare Disease Genetic Testing Product
 Table 54. Quest Diagnostics Revenue in Rare Disease Genetic Testing Business (2020-2025) & (US$ Million)
 Table 55. Quest Diagnostics Recent Development
 Table 56. Centogene Company Details
 Table 57. Centogene Business Overview
 Table 58. Centogene Rare Disease Genetic Testing Product
 Table 59. Centogene Revenue in Rare Disease Genetic Testing Business (2020-2025) & (US$ Million)
 Table 60. Centogene Recent Development
 Table 61. Invitae Corporation Company Details
 Table 62. Invitae Corporation Business Overview
 Table 63. Invitae Corporation Rare Disease Genetic Testing Product
 Table 64. Invitae Corporation Revenue in Rare Disease Genetic Testing Business (2020-2025) & (US$ Million)
 Table 65. Invitae Corporation Recent Development
 Table 66. 3billion Company Details
 Table 67. 3billion Business Overview
 Table 68. 3billion Rare Disease Genetic Testing Product
 Table 69. 3billion Revenue in Rare Disease Genetic Testing Business (2020-2025) & (US$ Million)
 Table 70. 3billion Recent Development
 Table 71. Arup Laboratories Company Details
 Table 72. Arup Laboratories Business Overview
 Table 73. Arup Laboratories Rare Disease Genetic Testing Product
 Table 74. Arup Laboratories Revenue in Rare Disease Genetic Testing Business (2020-2025) & (US$ Million)
 Table 75. Arup Laboratories Recent Development
 Table 76. Eurofins Scientific Company Details
 Table 77. Eurofins Scientific Business Overview
 Table 78. Eurofins Scientific Rare Disease Genetic Testing Product
 Table 79. Eurofins Scientific Revenue in Rare Disease Genetic Testing Business (2020-2025) & (US$ Million)
 Table 80. Eurofins Scientific Recent Development
 Table 81. Strand Life Sciences Company Details
 Table 82. Strand Life Sciences Business Overview
 Table 83. Strand Life Sciences Rare Disease Genetic Testing Product
 Table 84. Strand Life Sciences Revenue in Rare Disease Genetic Testing Business (2020-2025) & (US$ Million)
 Table 85. Strand Life Sciences Recent Development
 Table 86. Ambry Genetics Company Details
 Table 87. Ambry Genetics Business Overview
 Table 88. Ambry Genetics Rare Disease Genetic Testing Product
 Table 89. Ambry Genetics Revenue in Rare Disease Genetic Testing Business (2020-2025) & (US$ Million)
 Table 90. Ambry Genetics Recent Development
 Table 91. Perkin Elmer Company Details
 Table 92. Perkin Elmer Business Overview
 Table 93. Perkin Elmer Rare Disease Genetic Testing Product
 Table 94. Perkin Elmer Revenue in Rare Disease Genetic Testing Business (2020-2025) & (US$ Million)
 Table 95. Perkin Elmer Recent Development
 Table 96. Macrogen Company Details
 Table 97. Macrogen Business Overview
 Table 98. Macrogen Rare Disease Genetic Testing Product
 Table 99. Macrogen Revenue in Rare Disease Genetic Testing Business (2020-2025) & (US$ Million)
 Table 100. Macrogen Recent Development
 Table 101. Baylor Genetics Company Details
 Table 102. Baylor Genetics Business Overview
 Table 103. Baylor Genetics Rare Disease Genetic Testing Product
 Table 104. Baylor Genetics Revenue in Rare Disease Genetic Testing Business (2020-2025) & (US$ Million)
 Table 105. Baylor Genetics Recent Development
 Table 106. Color Genomics Company Details
 Table 107. Color Genomics Business Overview
 Table 108. Color Genomics Rare Disease Genetic Testing Product
 Table 109. Color Genomics Revenue in Rare Disease Genetic Testing Business (2020-2025) & (US$ Million)
 Table 110. Color Genomics Recent Development
 Table 111. Preventiongenetics Company Details
 Table 112. Preventiongenetics Business Overview
 Table 113. Preventiongenetics Rare Disease Genetic Testing Product
 Table 114. Preventiongenetics Revenue in Rare Disease Genetic Testing Business (2020-2025) & (US$ Million)
 Table 115. Preventiongenetics Recent Development
 Table 116. Progenity Company Details
 Table 117. Progenity Business Overview
 Table 118. Progenity Rare Disease Genetic Testing Product
 Table 119. Progenity Revenue in Rare Disease Genetic Testing Business (2020-2025) & (US$ Million)
 Table 120. Progenity Recent Development
 Table 121. Coopersurgical Company Details
 Table 122. Coopersurgical Business Overview
 Table 123. Coopersurgical Rare Disease Genetic Testing Product
 Table 124. Coopersurgical Revenue in Rare Disease Genetic Testing Business (2020-2025) & (US$ Million)
 Table 125. Coopersurgical Recent Development
 Table 126. Fulgent Genetics Company Details
 Table 127. Fulgent Genetics Business Overview
 Table 128. Fulgent Genetics Rare Disease Genetic Testing Product
 Table 129. Fulgent Genetics Revenue in Rare Disease Genetic Testing Business (2020-2025) & (US$ Million)
 Table 130. Fulgent Genetics Recent Development
 Table 131. Myriad Genetics Company Details
 Table 132. Myriad Genetics Business Overview
 Table 133. Myriad Genetics Rare Disease Genetic Testing Product
 Table 134. Myriad Genetics Revenue in Rare Disease Genetic Testing Business (2020-2025) & (US$ Million)
 Table 135. Myriad Genetics Recent Development
 Table 136. LabCorp Company Details
 Table 137. LabCorp Business Overview
 Table 138. LabCorp Rare Disease Genetic Testing Product
 Table 139. LabCorp Revenue in Rare Disease Genetic Testing Business (2020-2025) & (US$ Million)
 Table 140. LabCorp Recent Development
 Table 141. Opko Health Company Details
 Table 142. Opko Health Business Overview
 Table 143. Opko Health Rare Disease Genetic Testing Product
 Table 144. Opko Health Revenue in Rare Disease Genetic Testing Business (2020-2025) & (US$ Million)
 Table 145. Opko Health Recent Development
 Table 146. Research Programs/Design for This Report
 Table 147. Key Data Information from Secondary Sources
 Table 148. Key Data Information from Primary Sources
 Table 149. Authors List of This Report


List of Figures
 Figure 1. Rare Disease Genetic Testing Picture
 Figure 2. Global Rare Disease Genetic Testing Market Size Comparison by Type (2020-2031) & (US$ Million)
 Figure 3. Global Rare Disease Genetic Testing Market Share by Type: 2024 VS 2031
 Figure 4. Next-Generation Sequencing (NGS) Features
 Figure 5. Array Technology Features
 Figure 6. PCR-based Testing Features
 Figure 7. Fluorescence in Situ Hybridization (FISH) Features
 Figure 8. Sanger Sequencing Features
 Figure 9. Karyotyping Features
 Figure 10. Others Features
 Figure 11. Global Rare Disease Genetic Testing Market Size by Application (2020-2031) & (US$ Million)
 Figure 12. Global Rare Disease Genetic Testing Market Share by Application: 2024 VS 2031
 Figure 13. Research Laboratories and CROs Case Studies
 Figure 14. Diagnostic Laboratories Case Studies
 Figure 15. Hospitals and Clinics Case Studies
 Figure 16. Others Case Studies
 Figure 17. Rare Disease Genetic Testing Report Years Considered
 Figure 18. Global Rare Disease Genetic Testing Market Size (US$ Million), Year-over-Year: 2020-2031
 Figure 19. Global Rare Disease Genetic Testing Market Size, (US$ Million), 2020 VS 2024 VS 2031
 Figure 20. Global Rare Disease Genetic Testing Market Share by Region: 2024 VS 2031
 Figure 21. Global Rare Disease Genetic Testing Market Share by Players in 2024
 Figure 22. Global Top Rare Disease Genetic Testing Players by Company Type (Tier 1, Tier 2, and Tier 3) & (based on the Revenue in Rare Disease Genetic Testing as of 2024)
 Figure 23. The Top 10 and 5 Players Market Share by Rare Disease Genetic Testing Revenue in 2024
 Figure 24. North America Rare Disease Genetic Testing Market Size YoY Growth (2020-2031) & (US$ Million)
 Figure 25. North America Rare Disease Genetic Testing Market Share by Country (2020-2031)
 Figure 26. United States Rare Disease Genetic Testing Market Size YoY Growth (2020-2031) & (US$ Million)
 Figure 27. Canada Rare Disease Genetic Testing Market Size YoY Growth (2020-2031) & (US$ Million)
 Figure 28. Europe Rare Disease Genetic Testing Market Size YoY Growth (2020-2031) & (US$ Million)
 Figure 29. Europe Rare Disease Genetic Testing Market Share by Country (2020-2031)
 Figure 30. Germany Rare Disease Genetic Testing Market Size YoY Growth (2020-2031) & (US$ Million)
 Figure 31. France Rare Disease Genetic Testing Market Size YoY Growth (2020-2031) & (US$ Million)
 Figure 32. U.K. Rare Disease Genetic Testing Market Size YoY Growth (2020-2031) & (US$ Million)
 Figure 33. Italy Rare Disease Genetic Testing Market Size YoY Growth (2020-2031) & (US$ Million)
 Figure 34. Russia Rare Disease Genetic Testing Market Size YoY Growth (2020-2031) & (US$ Million)
 Figure 35. Nordic Countries Rare Disease Genetic Testing Market Size YoY Growth (2020-2031) & (US$ Million)
 Figure 36. Asia-Pacific Rare Disease Genetic Testing Market Size YoY Growth (2020-2031) & (US$ Million)
 Figure 37. Asia-Pacific Rare Disease Genetic Testing Market Share by Region (2020-2031)
 Figure 38. China Rare Disease Genetic Testing Market Size YoY Growth (2020-2031) & (US$ Million)
 Figure 39. Japan Rare Disease Genetic Testing Market Size YoY Growth (2020-2031) & (US$ Million)
 Figure 40. South Korea Rare Disease Genetic Testing Market Size YoY Growth (2020-2031) & (US$ Million)
 Figure 41. Southeast Asia Rare Disease Genetic Testing Market Size YoY Growth (2020-2031) & (US$ Million)
 Figure 42. India Rare Disease Genetic Testing Market Size YoY Growth (2020-2031) & (US$ Million)
 Figure 43. Australia Rare Disease Genetic Testing Market Size YoY Growth (2020-2031) & (US$ Million)
 Figure 44. Latin America Rare Disease Genetic Testing Market Size YoY Growth (2020-2031) & (US$ Million)
 Figure 45. Latin America Rare Disease Genetic Testing Market Share by Country (2020-2031)
 Figure 46. Mexico Rare Disease Genetic Testing Market Size YoY Growth (2020-2031) & (US$ Million)
 Figure 47. Brazil Rare Disease Genetic Testing Market Size YoY Growth (2020-2031) & (US$ Million)
 Figure 48. Middle East & Africa Rare Disease Genetic Testing Market Size YoY Growth (2020-2031) & (US$ Million)
 Figure 49. Middle East & Africa Rare Disease Genetic Testing Market Share by Country (2020-2031)
 Figure 50. Turkey Rare Disease Genetic Testing Market Size YoY Growth (2020-2031) & (US$ Million)
 Figure 51. Saudi Arabia Rare Disease Genetic Testing Market Size YoY Growth (2020-2031) & (US$ Million)
 Figure 52. UAE Rare Disease Genetic Testing Market Size YoY Growth (2020-2031) & (US$ Million)
 Figure 53. Quest Diagnostics Revenue Growth Rate in Rare Disease Genetic Testing Business (2020-2025)
 Figure 54. Centogene Revenue Growth Rate in Rare Disease Genetic Testing Business (2020-2025)
 Figure 55. Invitae Corporation Revenue Growth Rate in Rare Disease Genetic Testing Business (2020-2025)
 Figure 56. 3billion Revenue Growth Rate in Rare Disease Genetic Testing Business (2020-2025)
 Figure 57. Arup Laboratories Revenue Growth Rate in Rare Disease Genetic Testing Business (2020-2025)
 Figure 58. Eurofins Scientific Revenue Growth Rate in Rare Disease Genetic Testing Business (2020-2025)
 Figure 59. Strand Life Sciences Revenue Growth Rate in Rare Disease Genetic Testing Business (2020-2025)
 Figure 60. Ambry Genetics Revenue Growth Rate in Rare Disease Genetic Testing Business (2020-2025)
 Figure 61. Perkin Elmer Revenue Growth Rate in Rare Disease Genetic Testing Business (2020-2025)
 Figure 62. Macrogen Revenue Growth Rate in Rare Disease Genetic Testing Business (2020-2025)
 Figure 63. Baylor Genetics Revenue Growth Rate in Rare Disease Genetic Testing Business (2020-2025)
 Figure 64. Color Genomics Revenue Growth Rate in Rare Disease Genetic Testing Business (2020-2025)
 Figure 65. Preventiongenetics Revenue Growth Rate in Rare Disease Genetic Testing Business (2020-2025)
 Figure 66. Progenity Revenue Growth Rate in Rare Disease Genetic Testing Business (2020-2025)
 Figure 67. Coopersurgical Revenue Growth Rate in Rare Disease Genetic Testing Business (2020-2025)
 Figure 68. Fulgent Genetics Revenue Growth Rate in Rare Disease Genetic Testing Business (2020-2025)
 Figure 69. Myriad Genetics Revenue Growth Rate in Rare Disease Genetic Testing Business (2020-2025)
 Figure 70. LabCorp Revenue Growth Rate in Rare Disease Genetic Testing Business (2020-2025)
 Figure 71. Opko Health Revenue Growth Rate in Rare Disease Genetic Testing Business (2020-2025)
 Figure 72. Bottom-up and Top-down Approaches for This Report
 Figure 73. Data Triangulation
 Figure 74. Key Executives Interviewed
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