Table of Content

Executive Summary

1 Product Definition
1.1 Inclusion and Exclusion

2 Market Scope
2.1 Scope of Work
2.2 Key Questions Answered in the Report

3 Research Methodology
3.1 Global Rare Disease Diagnostics Market: Research Methodology
3.2 Primary Data Sources
3.3 Secondary Data Sources
3.4 Market Estimation Model
3.5 Criteria for Company Profiling

4 Market Overview
4.1 Market Definition
4.2 Test During Diagnostics
4.3 Market Size and Growth Potential, $Billion, 2019-2030
4.4 COVID-19 Impact on the Global Rare Disease Diagnostics Market

5 Industry Insights
5.1 Overview
5.2 Legal Requirements and Framework in the U.S.
5.3 Legal Requirements and Framework in Europe
5.4 Legal Requirements and Framework in Asia-Pacific
5.4.1 Japan
5.5 Funding Scenario
5.6 Patent Analysis
5.6.1 Overview
5.6.2 Patent Classification
5.6.3 Regional Analysis

6 Market Dynamics
6.1 Overview
6.2 Impact Analysis
6.3 Market Drivers
6.3.1 Rising Prevalence of Genetic Disorders
6.3.2 Increasing Research and Development in the Field of Rare Disease Diagnostics
6.3.3 Rare Genome Projects Lead to Rise in Awareness Regarding Treatment of Rare Disease
6.3.4 Commitment of Big Pharma and Biotech Companies to Rare Diseases
6.4 Market Restrains
6.4.1 Expensive Sequencing Procedures and their Application in Medical Treatments
6.4.2 High Capital Requirement Hampering the Expansion of Global Reach
6.4.3 Stringent Regulatory Standards
6.5 Market Opportunities
6.5.1 Technological Advancements in Sample Preparation for Whole Genome and Exome Sequencing in Rare Disease Sequencing
6.5.2 Huge Opportunity for Pharma and Medical Devices and Biotechnology Companies

7 Competitive Landscape
7.1 Synergistic Activities
7.2 Business Expansion Activities and Others
7.3 Product Launches and Product Updates
7.4 Mergers and Acquisitions
7.5 Market Share Analysis, 2019
7.6 Growth Share Analysis
7.6.1 Growth Share Analysis (by Company)

8 Global Rare Disease Diagnostics Market (by Disease Type), $Billion, 2019-2030
8.1 Overview
8.2 Gastroenterology Disease
8.3 Endocrine and Metabolism Disorders Disease
8.4 Cardiovascular Disorders
8.5 Neurology Disease
8.6 Hematology and Oncology Disease
8.7 Dermatology Disease
8.8 Other Diseases

9 Global Rare Disease Diagnostics Market (by Trait Type), $Billion, 2019-2030
9.1 Overview
9.2 Inherited Trait
9.3 Acquired Trait

10 Global Rare Disease Diagnostics Market (by Product Type), $Billion, 2019-2030
10.1 Overview
10.2 Kits and Assays
10.3 Panels
10.4 Other Products

11 Global Rare Disease Diagnostics Market (by Age Group), $Billion, 2019-2030
11.1 Overview
11.2 Children Age Group
11.3 Adult Age Group

12 Global Rare Disease Diagnostics Market (by Test Type), $Billion, 2019-2030
12.1 Overview
12.2 Genetic Test
12.3 General Lab Test
12.4 Imaging Test
12.5 Other Tests

13 Global Rare Disease Diagnostics Market (by Technology), $Billion, 2019-2030
13.1 Overview
13.2 Next-Generation Sequencing (NGS)
13.3 Whole Exome Sequencing (WES)
13.4 Whole-Genome Sequencing (WGS)
13.5 Microarrays
13.6 Other Technologies

14 Global Rare Disease Diagnostics Market (by Sample Type), $Billion, 2019-2030
14.1 DNA Sample
14.2 Buccal Swab Sample
14.3 Blood Sample
14.4 Saliva Sample
14.5 Other Samples

15 Global Rare Disease Diagnostics Market (by End User), $Billion, 2019-2030
15.1 Overview
15.2 Hospital Laboratories
15.3 Diagnostics Laboratories
15.4 Genetic Testing Laboratories
15.5 Cancer Research Laboratories
15.6 Cancer Research Institutes
15.7 Universities Research Laboratories
15.8 Other End Users

16 Global Rare Disease Diagnostics Market (by Region), $Billion, 2019-2030
16.1 Overview
16.2 North America
16.2.1 U.S.
16.2.2 Canada
16.3 Europe
16.3.1 Germany
16.3.2 France
16.3.3 U.K.
16.3.4 Italy
16.3.5 Spain
16.3.6 Russia
16.3.7 Rest-of-Europe
16.4 Asia-Pacific
16.4.1 China
16.4.2 Japan
16.4.3 Australia
16.4.4 India
16.4.5 Singapore
16.4.6 Rest-of-APAC
16.5 Latin America
16.5.1 Brazil
16.5.2 Mexico
16.5.3 Rest-of-Latin America
16.6 Rest-of-the-World

17 Company Profiles
17.1 Overview
17.2 23andMe, Inc.
17.2.1 Company Overview
17.2.2 Role of 23andMe, Inc. in the Global Rare Disease Diagnostics Market
17.2.3 SWOT Analysis
17.3 3billion, Inc.
17.3.1 Company Overview
17.3.2 Role of 3billion, Inc. in the Global Rare Disease Diagnostics Market
17.3.3 SWOT Analysis
17.4 Agilent Technologies, Inc.
17.4.1 Company Overview
17.4.2 Role of Agilent Technologies, Inc. in the Global Rare Disease Diagnostics Market
17.4.3 Financials
17.4.4 Key Insights About Financial Health of the Company
17.4.5 SWOT Analysis
17.5 Beijing Genomics Institute (BGI) Genomics Co., Ltd
17.5.1 Company Overview
17.5.2 Role of Beijing Genomics Institute (BGI) Genomics Co., Ltd in the Global Rare Disease Diagnostics Market
17.5.3 SWOT Analysis
17.6 CENTOGENE N.V.
17.6.1 Company Overview
17.6.2 Role of CENTOGENE N.V. in the Global Rare Disease Diagnostics Market
17.6.3 SWOT Analysis
17.7 Eurofins Scientific SE
17.7.1 Company Overview
17.7.2 Role of Eurofins Scientific SE in the Global Rare Disease Diagnostics Market
17.7.3 Financials
17.7.4 SWOT Analysis
17.8 GENEWIZ, Inc.
17.8.1 Company Overview
17.8.2 Role of GENEWIZ, Inc. in the Global Rare Disease Diagnostics Market
17.8.3 SWOT Analysis
17.9 Illumina, Inc.
17.9.1 Company Overview
17.9.2 Role of Illumina, Inc. in the Global Rare Disease Diagnostics Market
17.9.3 Financials
17.9.4 Key Insights About Financial Health of the Company
17.9.5 SWOT Analysis
17.10 In-Depth Genomics
17.10.1 Company Overview
17.10.2 Role of In-Depth Genomics in the Global Rare Disease Diagnostics Market
17.10.3 SWOT Analysis
17.11 Invitae Corporation
17.11.1 Company Overview
17.11.2 Role of Invitae Corporation, Inc. in the Rare Disease Diagnostics Market
17.11.3 Financials
17.11.4 Key Insights About Financial Health of the Company
17.11.5 SWOT Analysis
17.12 Laboratory Corporation of America Holdings
17.12.1 Company Overview
17.12.2 Role of Laboratory Corporation of America Holdings in the Global Rare Disease Diagnostics Market
17.12.3 Financials
17.12.4 SWOT Analysis
17.13 Opko Health
17.13.1 Company Overview
17.13.2 Role of Opko Health, Inc. in the Global Rare Disease Diagnostics Market
17.13.3 Financials
17.13.4 Key Insights About Financial Health of the Company
17.13.5 SWOT Analysis
17.14 PerkinElmer, Inc.
17.14.1 Company Overview
17.14.2 Role of PerkinElmer Inc. in the Global Rare Disease Diagnostics Market
17.14.3 Financials
17.14.4 Key Insights About Financial Health of the Company
17.14.5 SWOT Analysis
17.15 Quest Diagnostics Incorporated
17.15.1 Company Overview
17.15.2 Role of Quest Diagnostics Limited in the Global Rare Disease Diagnostics Market
17.15.3 Financials
17.15.4 SWOT Analysis
17.16 Travere Therapeutics, Inc.
17.16.1 Company Overview
17.16.2 Role of Travere Therapeutics, Inc. in the Global Rare Disease Diagnostics Market
17.16.3 Financials
17.16.4 SWOT Analysis



List of Tables


Table 1: Per Sample Clinical Cost of WGS and WES
Table 4.1: Genetic Tests
Table 5.1: Funding for Rare Disease Research

List of Figures


Figure 1: Impact Analysis of Market Drivers and Market Challenges on the Global Rare Disease Diagnostics Market
Figure 2: Global Rare Disease Diagnostics Market (by Disease Type), $Billion, 2019 Vs. 2030
Figure 3: Global Rare Disease Diagnostics Market (by Technology), $Billion, 2019 vs. 2030
Figure 4: Global Rare Disease Diagnostics Market Snapshot, $Billion, 2019 and 2030
Figure 2.1: Global Rare Disease Diagnostics Segmentation
Figure 3.1: Global Rare Disease Diagnostics Market Research Methodology
Figure 3.2: Primary Research Methodology
Figure 3.3: Bottom-Up Approach (Segment-Wise Analysis)
Figure 3.4: Top-Down Approach (Segment-Wise Analysis)
Figure 4.1: Rare Disease Prevalence Across Various Countries
Figure 4.2: Global Rare Disease Diagnostics Market, $Billion, 2019-2030
Figure 4.3: Global Rare Disease Diagnostics Market: COVID-19 Impact
Figure 5.1: Regulatory Scenario in Europe (by Country)
Figure 5.2: NIH Funding on Rare Diseases, $Million
Figure 5.3: Patent Classification in the Global Rare Disease Diagnostics Market, 2017-2020
Figure 5.4: Patent Analysis (by Region), 2017-2020
Figure 6.1: Impact Analysis
Figure 6.2: Prevalence of Rare Disease, Million
Figure 6.3: Percentage of Rare Disease Research in Five Years
Figure 7.1: Share of Key Developments and Strategies, January 2017-December 2020
Figure 7.2: Synergistic Activities Share (by Company), January 2017-December 2020
Figure 7.3: Business Expansion Activities Share (by Company), January 2017- December 2020
Figure 7.4: Number of Product Launches (by Company), January 2017-December 2020
Figure 7.5: Merger and Acquisitions, January 2017- December 2020
Figure 7.6: Market Share Analysis for Global Rare Disease Diagnostics Market, 2019
Figure 7.7: Growth Share Analysis for Global Rare Disease Diagnostics Market (by Company), 2019
Figure 8.1: Global Rare Disease Diagnostics Market (by Disease Type)
Figure 8.2: Global Rare Disease Diagnostics Market (by Disease Type), $Billion, 2019 and 2030
Figure 8.3: Global Rare Disease Diagnostics Market,(Gastroenterology Disease), $Billion, 2019-2030
Figure 8.4: Global Rare Disease Diagnostics Market (Endocrine and Metabolism Disorders Disease), $ Billion, 2019-2030
Figure 8.5: Global Rare Disease Diagnostics Market (Cardiovascular Disorders), $Billion, 2019-2030
Figure 8.6: Global Rare Disease Diagnostics Market (Neurology Disease), $Billion, 2019-2030
Figure 8.7: Global Rare Disease Diagnostics Market (Hematology and Oncology Disease), $Billion, 2019-2030
Figure 8.8: Global Rare Disease Diagnostics Market (Dermatology Disease), $Billion, 2019-2030
Figure 8.9: Global Rare Disease Diagnostics Market (Other Diseases), $Billion, 2019-2030
Figure 9.1: Global Rare Disease Diagnostics Market (by Trait Type)
Figure 9.2: Global Rare Disease Diagnostics Market (by Trait Type), $Billion, 2019-2030
Figure 9.3: Global Rare Disease Diagnostics Market (Inherited Trait), $Billion, 2019-2030
Figure 9.4: Global Rare Disease Diagnostics Market (Acquired Trait), $Billion, 2019-2030
Figure 10.1: Global Rare Disease Diagnostics Market (by Product Type)
Figure 10.2: Global Rare Disease Diagnostics Market (by Product Type), $Billion, 2019-2030
Figure 10.3: Global Rare Disease Diagnostics Market (Kits and Assays), $Billion, 2019-2030
Figure 10.4: Global Rare Disease Diagnostics Market (Panels), $ Billion, 2019-2030
Figure 10.5: Global Rare Disease Diagnostics Market (Other Products), $Billion, 2019-2030
Figure 11.1: Global Rare Disease Diagnostics Market (by Age Group)
Figure 11.2: Global Rare Disease Diagnostics Market (by Age Group), $Billion, 2019-2030
Figure 11.3: Global Rare Disease Diagnostics Market (Children Age Group), $Billion, 2019-2030
Figure 11.4: Global Rare Disease Diagnostics Market (Adult Age Group), $Billion, 2019-2030
Figure 12.1: Global Rare Disease Diagnostics Market (by Test Type)
Figure 12.2: Global Rare Disease Diagnostics Market (by Test Type), $Billion, 2019 and 2030
Figure 12.3: Global Rare Disease Diagnostics Market (Genetic Test), $Billion, 2019-2030
Figure 12.4: Global Rare Disease Diagnostics Market (General Lab Test), $Billion, 2019-2030
Figure 12.5: Global Rare Disease Diagnostics Market (Imaging Test), $Billion, 2019-2030
Figure 12.6: Global Rare Disease Diagnostics Market (Other Tests), $Billion, 2019-2030
Figure 13.1: Global Rare Disease Diagnostics Market (by Technology)
Figure 13.2: Global Rare Disease Diagnostics Market (by Technology), $Billion, 2019 and 2030
Figure 13.3: Global Rare Disease Diagnostics Market, $Billion (NGS), 2019-2030
Figure 13.4: Global Rare Disease Diagnostics Market, $Billion (Whole Exome Sequencing), 2019-2030
Figure 13.5: Global Rare Disease Diagnostics Market (Whole Genome Sequencing), $Billion, 2019-2030
Figure 13.6: Global Rare Disease Diagnostics Market (Microarrays), $Billion, 2019-2030
Figure 13.7: Global Rare Disease Diagnostics Market (Other Technologies), $Billion, 2019-2030
Figure 14.1: Global Rare Disease Diagnostics Market (by Sample Type)
Figure 14.2: Global Rare Disease Diagnostics Market (DNA Sample), $Billion, 2019-2030
Figure 14.3: Global Rare Disease Diagnostics Market (Buccal Swab Sample), $Billion, 2019-2030
Figure 14.4: Global Rare Disease Diagnostics Market (Blood Sample), $Billion, 2019-2030
Figure 14.5: Global Rare Disease Diagnostics Market (Saliva Sample), $Billion, 2019-2030
Figure 14.6: Global Rare Disease Diagnostics Market (Other Samples), $Billion, 2019-2030
Figure 15.1: Global Rare Disease Diagnostics Market (by End User)
Figure 15.2: Global Rare Disease Diagnostics Market (Hospital Laboratories), $Billion, 2019-2030
Figure 15.3: Global Rare Disease Diagnostics Market (Diagnostics Laboratories), $Billion, 2019-2030
Figure 15.4: Global Rare Disease Diagnostics Market (Genetic Testing Laboratories), $Billion, 2019-2030
Figure 15.5: Global Rare Disease Diagnostics Market (Cancer Research Laboratories), $Billion, 2019-2030
Figure 15.6: Global Rare Disease Diagnostics Market (Cancer Research Institutes), $Billion, 2019-2030
Figure 15.7: Global Rare Disease Diagnostics Market (Universities Research Laboratories), $Billion, 2019-2030
Figure 15.8: Global Rare Disease Diagnostics Market (Other End Users), $Billion, 2019-2030
Figure 16.1: Global Rare Disease Diagnostics Market (by Region), 2019 and 2030
Figure 16.2: Global Rare Disease Diagnostics Market (by Region), 2019-2030
Figure 16.3: Global Rare Disease Diagnostics Market Share (by Region), 2019
Figure 16.4: Global Rare Disease Diagnostics Market Share (by Region), 2030
Figure 16.5: North America Rare Disease Diagnostics Market, $Billion, 2019-2030
Figure 16.6: North America: Market Dynamics
Figure 16.7: North America Rare Disease Diagnostics Market (by Country), $Billion 2019-2030
Figure 16.8: U.S. Rare Disease Diagnostics Market, $Billion, 2019-2030
Figure 16.9: Canada Rare Disease Diagnostics Market, $Billion, 2019-2030
Figure 16.10: Europe Rare Disease Diagnostics Market, $Billion, 2019-2030
Figure 16.11: Europe: Market Dynamics
Figure 16.12: Europe Rare Disease Diagnostics Market (by Country), $Billion 2019-2030
Figure 16.13: Germany Rare Disease Diagnostics Market, $Billion, 2019-2030
Figure 16.14: France Rare Disease Diagnostics Market, $Billion, 2019-2030
Figure 16.15: U.K. Rare Disease Diagnostics Market, $Billion, 2019-2030
Figure 16.16: Italy Rare Disease Diagnostics Market, $Billion, 2019-2030
Figure 16.17: Spain Rare Disease Diagnostics Market, $Billion, 2019-2030
Figure 16.18: Russia Rare Disease Diagnostics Market, $Billion, 2019-2030
Figure 16.19: Rest-of-Europe Rare Disease Diagnostics Market, $Billion, 2019-2030
Figure 16.20: Asia-Pacific Rare Disease Diagnostics Market, $Billion, 2019-2030
Figure 16.21: APAC: Market Dynamics
Figure 16.22: APAC Rare Disease Diagnostics Market (by Country), $Billion2019-2030
Figure 16.23: China Rare Disease Diagnostics Market, $Billion, 2019-2030
Figure 16.24: Japan Rare Disease Diagnostics Market, $Billion, 2019-2030
Figure 16.25: Australia Rare Disease Diagnostics Market, $Billion, 2019-2030
Figure 16.26: India Rare Disease Diagnostics Market, $Billion, 2019-2030
Figure 16.27: Singapore Rare Disease Diagnostics Market, $Billion, 2019-2030
Figure 16.28: RoAPAC Rare Disease Diagnostics Market, $Billion, 2019-2030
Figure 16.29: Latin America Rare Disease Diagnostics Market, $Billion, 2019-2030
Figure 16.30: Latin America: Market Dynamics
Figure 16.31: Latin America Rare Disease Diagnostics Market (by Country), $Billion, 2019-2030
Figure 16.32: Brazil Rare Disease Diagnostics Market, $Billion, 2019-2030
Figure 16.33: Mexico Rare Disease Diagnostics Market, $Billion, 2019-2030
Figure 16.34: Rest-of-Latin America Rare Disease Diagnostics Market, $Billion, 2019-2030
Figure 16.35: RoW Rare Disease Diagnostics Market, $Billion, 2019-2030
Figure 17.1: Total Number of Companies Profiled
Figure 17.2: 23andMe, Inc.: Product Portfolio
Figure 17.3: 23andme Inc.: SWOT Analysis
Figure 17.4: 3billion, Inc.: Product Portfolio
Figure 17.5: 23andme Inc.: SWOT Analysis
Figure 17.6: Agilent Technologies, Inc.: Product Portfolio
Figure 17.7: Agilent Technologies, Inc.: Overall Financials, 2017-2019
Figure 17.8: Agilent Technologies, Inc.: Revenue (by Segment), 2017-2019
Figure 17.9: Agilent Technologies, Inc.: Revenue (by Region), 2016-2018
Figure 17.10: Agilent Technologies, Inc.: R&D Expenditure, 2017-2019
Figure 17.11: Agilent Technologies, Inc.: SWOT Analysis
Figure 17.12: Beijing Genomics Institute (BGI) Genomics Co., Ltd: Product Portfolio
Figure 17.13: Beijing Genomics Institute (BGI) Genomics Co., Ltd.: SWOT Analysis
Figure 17.14: CENTOGENE N.V.: Overall Product Portfolio
Figure 17.15: CENTOGENE N.V.: SWOT Analysis
Figure 17.20: Eurofins Scientific SE: Overall Product Portfolio
Figure 17.21: Eurofins Scientific SE: Overall Financials, 2017-2019
Figure 17.22: Eurofins Scientific SE: Revenue (by Region), 2018-2019
Figure 17.23: Eurofins Scientific SE.: SWOT Analysis
Figure 17.24: GENEWIZ, Inc.: Overall Service Portfolio
Figure 17.25: GENEWIZ, Inc.: SWOT Analysis
Figure 17.26: Illumina, Inc.: Overall Product Portfolio
Figure 17.27: Illumina, Inc.: Overall Financials, 2017-2019
Figure 17.28: Illumina, Inc.: Revenue (by Segment), 2017-2019
Figure 17.29: Illumina, Inc.: Revenue (by Region), 2017-2020
Figure 17.30: Illumina, Inc.: R&D Expenditure, 2017-2019
Figure 17.31: Illumina, Inc.: SWOT Analysis
Figure 17.32: In-Depth Genomics: Overall Service Portfolio
Figure 17.33: In-Depth Genomics.: SWOT Analysis
Figure 17.34: Invitae Corporation: Portfolio
Figure 17.35: Invitae Corporation: Overall Financials, 2017-2019
Figure 17.36: Invitae Corporation: Revenue (by Segment), 2017-2019
Figure 17.37: Invitae Corporation: Revenue (by Geography), 2017-2019
Figure 17.38: Invitae Corporation: R&D Expenditure, 2017-2019
Figure 17.39: Invitae Corporation: SWOT Analysis
Figure 17.40: Laboratory Corporation of America Holdings: Portfolio
Figure 17.41: Laboratory Corporation of America Holdings: Overall Financials, 2017-2019
Figure 17.42: Laboratory Corporation of America Holdings: Revenue (by Segment), 2017-2019
Figure 17.43: Laboratory Corporation of America Holdings: Revenue (by Region), 2019
Figure 17.44: Laboratory Corporation of America Holdings: SWOT Analysis
Figure 17.45 Opko Health: Portfolio
Figure 17.46: Opko Health: Overall Financials, 2017-2019
Figure 17.47: Opko Health: Revenue (by Segment), 2017-2019
Figure 17.48: Opko Health: Revenue (by Region), 2017-2019
Figure 17.49: Opko Health: R&D Expenditure, 2017-2019
Figure 17.50: Opko Health: SWOT Analysis
Figure 17.51: PerkinElmer, Inc.: Overall Financials, 2017-2019
Figure 17.52: PerkinElmer, Inc.: Revenue (by Segment), 2017-2019
Figure 17.53: PerkinElmer, Inc.: Revenue (by Region), 2018-2019
Figure 17.54: PerkinElmer, Inc.: R&D Expenditure, 2017-2019
Figure 17.55: PerkinElmer, Inc.: SWOT Analysis
Figure 17.56: Quest Diagnostics Incorporated: Portfolio
Figure 17.57: Quest Diagnostics Incorporated: Overall Financials, 2017-2019
Figure 17.58: Quest Diagnostics Incorporated: Revenue (by Business Segment), 2017-2019
Figure 17.59: Quest Diagnostics Incorporated: SWOT Analysis
Figure 17.60: Travere Therapeutics, Inc: Portfolio
Figure 17.61: Travere Therapeutics, Inc.: Overall Financials, 2017-2019
Figure 17.62: Travere Therapeutics, Inc.: SWOT Analysis