Executive Summary
1 Market Overview
1.1 Rare Disease Introduction
1.2 Tests Performed during Diagnosis
1.3 Rare Disease Challenges and Recommendations
1.4 List of Genetic Tests
1.5 Rare Disease Policies
1.6 A Path to Success: Partnerships and Coordinated Efforts of the Rare Diseases Community
1.7 Global Market Overview
1.8 Assumptions and Limitations

2 Market Dynamics
2.1 Market Dynamics: Drivers, Restraints, and Opportunities, and Trends
2.2 Rare Disease Diagnostics Market: Drivers
2.3 Rare Disease Diagnostics Market: Challenges
2.4 Rare Disease Diagnostics Market: Opportunity
2.5 Rare Disease Diagnostics Market: Trends

3 Competitive Landscape
3.1 Product Launches
3.2 Joint Venture, Collaborations, and Partnerships
3.3 IRDiRC Perspective: Progress in Rare Diseases Research, 2010-2016
3.4 Service Providers

4 Industry Insights
4.1 Funding Scenario
4.2 Legal Requirements and Regulations
4.3 List of Regulatory Bodies

5 Global Rare Disease Diagnostics Market (by Disease Type)
5.1 Key Takeaways
5.2 Rare Disease Market Attractiveness (by Disease Type)
5.3 Overview: Disease Type
5.4 Market Overview: Disease Type
5.5 Market Value (by Gastroenterology Disease Type), 2017-2025
5.6 Market Value ((by Endocrine and Metabolism Disorders Disease Type)), 2017-2025
5.7 Market Value (by Cardiovascular Disorders), 2017-2025
5.8 Market Value (by Neurology Disease Type), 2017-2025
5.9 Market Value (by Hematology and Oncology Disease Type), 2017-2025
5.10 Market Value (by Dermatology Disease Type), 2017-2025
5.11 Market Value (by Other Therapeutic Areas), 2017-2025

6 Global Rare Disease Diagnostics Market (by Test Type)
6.1 Key Takeaways
6.2 Rare Disease Market Attractiveness (by Test Type)
6.3 Overview: Test Type
6.4 Market Overview: Disease Type
6.5 Market Value (by Genetic Test Type), 2017-2025
6.6 Market Value (by General Lab Tests), 2017-2025
6.7 Market Value (by Imaging Test Type), 2017-2025
6.8 Market Value (by Other Tests), 2017-2025

7 Global Rare Disease Diagnostics Market (by Trait)
7.1 Key Takeaways
7.2 Rare Disease Market Attractiveness (by Trait Type)
7.3 Overview: Trait Type
7.4 Market Overview: Trait Type
7.5 Market Value (by Inherited Trait Type), 2017-2025
7.6 Market Value (by Acquired Trait Type), 2017-2025

8 Global Rare Disease Diagnostics Market (by Age Group)
8.1 Key Takeaways
8.2 Rare Disease Market Attractiveness (by Age Group)
8.3 Overview: Age Group
8.4 Market Overview: Age Group
8.5 Market Value (by Children Age Group), 2017-2025
8.6 Market Value (by Adult Age Group), 2017-2025

9 Global Rare Disease Diagnostics Market (by End User)
9.1 Key Takeaways
9.2 Rare Disease Market Attractiveness (by End User)
9.3 Market Overview: End User
9.4 Market Value (by Hospital Laboratories), 2017-2025
9.5 Market Value (by Diagnostic laboratories), 2017-2025
9.6 Market Value (by Genetic Testing Laboratories), 2017-2025
9.7 Market Value (by Cancer Research Laboratories), 2017-2025
9.8 Market Value (by Other End User), 2017-2025

10 Global Rare Disease Diagnostics Market (by Region)
10.1 Market Overview (by Region)
10.2 Global Rare Disease Diagnostics Market (by Region)
10.3 Market Value (by Region)

11 North America Rare Disease Diagnostics Market
11.1 Market Overview (by Country)
11.2 North America: Impact of Market Drivers and Market Restraints
11.3 Market Value (by Country)
11.4 Market Value: U.S. Rare Disease Diagnostics Market, 2017-2025
11.5 Market Value: Canada Rare Disease Diagnostics Market, 2017-2025

12 Europe Rare Disease Diagnostics Market
12.1 Market Overview (by Country)
12.2 Europe: Impact of Market Drivers and Market Restraints
12.3 Market Value (by Country)
12.4 Market Value: U.K Rare Disease Diagnostics Market, 2017-2025
12.5 Market Value: Germany Rare Disease Diagnostics Market, 2017-2025
12.6 Market Value: France Rare Disease Diagnostics Market, 2017-2025
12.7 Market Value: Russia Rare Disease Diagnostics Market, 2017-2025
12.8 Market Value: Italy Rare Disease Diagnostics Market, 2017-2025
12.9 Market Value: Spain Rare Disease Diagnostics Market, 2017-2025
12.10 Market Value: Rest-of-Europe Rare Disease Diagnostics Market, 2017-2025

13 Latin America Rare Disease Diagnostics Market
13.1 Market Overview (by Country)
13.2 Latin America: Impact of Market Drivers and Market Restraints
13.3 Market Value (by Country)
13.4 Market Value: Brazil Rare Disease Diagnostics Market, 2017-2025
13.5 Market Value: Mexico Rare Disease Diagnostics Market, 2017-2025
13.6 Market Value: Rest-of-Latin America Rare Disease Diagnostics Market, 2017-2025

14 Asia Pacific Rare Disease Diagnostics Market
14.1 Market Overview (by Country)
14.2 Asia-Pacific: Impact of Market Drivers and Market Restraints
14.3 Market Value (by Country)
14.4 Market Value: China Rare Disease Diagnostics Market, 2017-2025
14.5 Market Value: Japan Rare Disease Diagnostics Market, 2017-2025
14.6 Market Value: India Rare Disease Diagnostics Market, 2017-2025
14.7 Market Value: Australia Rare Disease Diagnostics Market, 2017-2025
14.8 Market Value: Singapore Rare Disease Diagnostics Market, 2017-2025
14.9 Market Value: Rest-of-Asia-Pacific Rare Disease Diagnostics Market, 2017-2025

15 MEA Rare Disease Diagnostics Market
15.1 Market Overview (by Country)
15.2 MEA: Impact of Market Drivers and Market Restraints
15.3 Market Value (by Country)
15.4 Market Value: GCC Country Rare Disease Diagnostics Market, 2017-2025
15.5 Market Value: South Africa Rare Disease Diagnostics Market, 2017-2025
15.6 Market Value: Rest-of-MEA Rare Disease Diagnostics Market, 2017-2025

16 Company Profiles
16.1 23andMe, Inc.
16.1.1 Company Overview
16.1.2 Product Portfolio
16.1.3 Recent Development
16.1.4 SWOT Analysis
16.2 3billion, Inc.
16.2.1 Company Overview
16.2.2 Product Portfolio
16.2.3 Global Footprint
16.2.4 Financial Overview
16.2.5 Recent Development
16.2.6 SWOT Analysis
16.3 BGI
16.3.1 Company Overview
16.3.2 Product Portfolio
16.3.3 Recent Development
16.3.4 SWOT Analysis
16.4 Centogene A.G.
16.4.1 Company Overview
16.4.2 Product Portfolio
16.4.3 Global Footprint
16.4.4 Recent Development
16.4.5 SWOT Analysis
16.5 Eurofins Scientific
16.5.1 Company Overview
16.5.2 Product Portfolio
16.5.3 Global Footprint
16.5.4 Financial Overview
16.5.5 Net Revenue (by Business Segment)
16.5.6 Recent Development
16.5.7 SWOT Analysis
16.6 GENEWIZ
16.6.1 Company Overview
16.6.2 Product Portfolio
16.6.3 Recent Development
16.6.4 SWOT Analysis
16.7 Illumina Inc.
16.7.1 Company Overview
16.7.2 Product Portfolio
16.7.3 Global Footprint
16.7.4 Net Revenue (by Business Segment)
16.7.5 Recent Development
16.7.6 SWOT Analysis
16.8 InDepth Genomics
16.9 Laboratory Corporation of America
16.9.1 Company Overview
16.9.2 Product Portfolio
16.9.3 Global Footprint
16.9.4 Financial Overview
16.9.5 Net Revenue (by Business Segment)
16.9.6 Recent Development
16.9.7 SWOT Analysis
16.10 Partek, Inc.
16.10.1 Company Overview
16.10.2 Product Portfolio
16.10.3 Recent Development
16.10.4 SWOT Analysis
16.11 PerkinElmer, Inc.
16.11.1 Company Overview
16.11.2 Product Portfolio
16.11.3 Global Footprint
16.11.4 Net Revenue (by Business Segment)
16.11.5 Recent Development
16.11.6 SWOT Analysis
16.12 Personal Genome Diagnostics, Inc.
16.12.1 Company Overview
16.12.2 Product Portfolio
16.12.3 Recent Development
16.12.4 SWOT Analysis
16.13 QIAGEN N.V.
16.13.1 Company Overview
16.13.2 Product Portfolio
16.13.3 Global Footprint
16.13.4 Net Revenue (by Business Segment)
16.13.5 Recent Development
16.13.6 SWOT Analysis
16.14 Retrophin, Inc.
16.14.1 Company Overview
16.14.2 Product Portfolio
16.14.3 Global Footprint
16.14.4 Financial Overview
16.14.5 Net Revenue (by Business Segment)
16.14.6 Recent Development
16.14.7 SWOT Analysis
16.15 Strand Life Sciences Pvt Ltd.
16.15.1 Company Overview
16.15.2 Product Portfolio
16.15.3 Global Footprint
16.15.4 Recent Development
16.15.5 SWOT Analysis

Report Scope

List of Tables

Table 1 List of web-based and computer-aided tools available to help in diagnosing and managing rare genetic diseases (1/2)
Table 2 Genetic Tests
Table 3 Rare Disease Policies
Table 4 Limitation to Diagnostic Devices or Tests
Table 5 Genetic Test: Service Providers
Table 6 Funding for Rare Disease Research
Table 7 List of Regulatory Bodies

List of Figures

Figure 1 Rare disease diagnostic evaluation steps
Figure 2 Problems/Challenges/Web-based Solutions
Figure 3 Rare Disease Diagnostics Market (by Disease Type), Incremental Opportunity (%)
Figure 4 Rare Disease Diagnostics Market Value, Billion
Figure 5 Market Share (by Disease Type), %, 2018
Figure 6 Rare Disease Diagnostics Market (Y-o-Y), 2017-2025
Figure 7 Market Share (by Test Type), %, 2018
Figure 8 Market Share (by Trait), %, 2018
Figure 9 Market Share (by Age), %, 2018
Figure 10 Market Share (by End User), %, 2018
Figure 11 Global Rare Disease Diagnostics Market Value (by Disease Type), $Billion
Figure 12 Global Rare Disease Diagnostics Market Value (by Test Type), $Billion
Figure 13 Global Rare Disease Diagnostics Market Value (by Trait Type), $Billion
Figure 14 Global Rare Disease Diagnostics Market Value (by Age Group Type), $Billion
Figure 15 Global Rare Disease Diagnostics Market Value (by End User), $Billion
Figure 16 Global Rare Disease Diagnostics Market Revenue, (By Hematology and Oncology), $Billion
Figure 17 Market Revenue (by Region), 2017, $Billion
Figure 18 Region with the Highest CAGR. %, 2018-2025
Figure 19 Product Manufacturer, Service Providers, Research Organization Collaborations
Figure 20 Global Rare Disease Diagnostics Market (by Region), $Billion
Figure 21 Global Rare Disease Diagnostics Market (by Disease Type)
Figure 22 Global Rare Disease Diagnostics Market (by Disease Type), 2025
Figure 23 Global Rare Disease Diagnostics Market (by Test Type), 2018
Figure 24 Global Rare Disease Diagnostics Market (by Test Type), 2025
Figure 25 Global Rare Disease Diagnostics Market (by Trait Type), 2018
Figure 26 Global Rare Disease Diagnostics Market (by Trait Type), 2025
Figure 27 Global Rare Disease Diagnostics Market (by Age Group), 2018
Figure 28 Global Rare Disease Diagnostics Market (by Age Group), 2025
Figure 29 Global Rare Disease Diagnostics Market (by End User), 2018
Figure 30 Global Rare Disease Diagnostics Market (by End User), 2025
Figure 31 Global Rare Disease Diagnostics Market (by Region), 2018
Figure 32 Global Rare Disease Diagnostics Market (by Region), 2025
Figure 33 Challenges in Getting to the Right Doctor
Figure 34 Rare Disease Prevalence across various countries
Figure 35 Partnerships and Coordinated Efforts of the Rare Diseases Community
Figure 36 Global Rare Disease Diagnostics Market, 2017-2025
Figure 37 Prevalence of Rare Disease
Figure 38 Approximate number of gene discoveries by method
Figure 39 Percentage of rare disease research in next five years
Figure 40 Increase in genetic test development for diseases, 2016
Figure 41 Full genome sequencing becomes affordable
Figure 42 Orphan Drug Approvals
Figure 43 Competitive Landscape (January 2014-February 2018)
Figure 44 Distribution of European registries by coverage
Figure 45 IRDiRC Member Evolution
Figure 46 Distribution of Funded Projects and Trials by Type of Research
Figure 47 Distribution of Research Projects by Medical Domain
Figure 48 Service Providers
Figure 49 Industry Insights (January 2014-February 2018)
Figure 50 NIH Funding On Rare Diseases ($Mn)
Figure 51 Orphan drug legislation timeline
Figure 52 Rare Disease Diagnostics Market Attractiveness (by Disease Type)
Figure 53 Rare Disease Diagnostics Market (by Disease Type)
Figure 54 Global Rare Disease Diagnostics Market (by Disease Type), 2017-2025
Figure 55 Global Rare Disease Diagnostics Market (by Gastroenterology Disease Type), 2017-2025
Figure 56 Global Rare Disease Diagnostics Market, ((by Endocrine and Metabolism Disorders Disease Type)) 2017-2025
Figure 57 Global Rare Disease Diagnostics Market (by Cardiovascular Disorders), 2017-2025
Figure 58 Global Rare Disease Diagnostics Market (by Neurology Disease Type), 2017-2025
Figure 59 Global Rare Disease Diagnostics Market (by Hematology and Oncology Disease Type), 2017-2025
Figure 60 Global Rare Disease Diagnostics Market (by Dermatology Disease Type), 2017-2025
Figure 61 Global Rare Disease Diagnostics Market (by Other therapeutic Areas), 2017-2025
Figure 62 Rare Disease Diagnostics Market Attractiveness (by Test Type)
Figure 63 Rare Disease Diagnostics Market (by Test Type)
Figure 64 Global Rare Disease Diagnostics Market (by Test Type), 2017-2025
Figure 65 Global Rare Disease Diagnostics Market (by Genetic Test Type), 2017-2025
Figure 66 Global Rare Disease Diagnostics Market (by General Lab Tests), 2017-2025
Figure 67 Global Rare Disease Diagnostics Market (by Imaging Test Type), 2017-2025
Figure 68 Global Rare Disease Diagnostics Market (by Others), 2017-2025
Figure 69 Rare Disease Diagnostics Market Attractiveness (by Trait Type)
Figure 70 Rare Disease Diagnostics Market (by Trait)
Figure 71 Global Rare Disease Diagnostics Market (by Trait), 2017-2025
Figure 72 Global Rare Disease Diagnostics Market (by Inherited Trait Type), 2017-2025
Figure 73 Global Rare Disease Diagnostics Market (by Acquired Trait Type), 2017-2025
Figure 74 Rare Disease Diagnostics Market Attractiveness (by Age Group)
Figure 75 Rare Disease Diagnostics Market (by Age Group)
Figure 76 Global Rare Disease Diagnostics Market (by Children), 2017-2025
Figure 77 Global Rare Disease Diagnostics Market (by Children Age Group), 2017-2015
Figure 78 Global Rare Disease Diagnostics Market (by Adults Age Group), 2017-2025
Figure 79 Rare Disease Diagnostics Market Attractiveness (by End User)
Figure 80 Global Rare Disease Diagnostics Market (by End User), 2017-2025
Figure 81 Global Rare Disease Diagnostics Market, by Hospital Laboratories, 2017-2025
Figure 82 Global Rare Disease Diagnostics Market by Diagnostic laboratories, 2017-2025
Figure 83 Global Rare Disease Diagnostics Market by Genetic Testing Laboratories, 2017-2025
Figure 84 Global Rare Disease Diagnostics Market (by Cancer Research Laboratories), 2017-2025
Figure 85 Global Rare Disease Diagnostics Market (by Other End User), 2017-2025
Figure 86 Absolute Dollar Opportunity (by Region)
Figure 87 Market Share: (by Region) 2018
Figure 88 Market Share: (by Region) 2025
Figure 89 Rare Disease Diagnostics Market Year-on-Year Growth
Figure 90 Global Rare Disease Diagnostics Market (by Region)
Figure 91 Global Rare Disease Diagnostics Market (by Region), 2017-2025
Figure 92 Market Value, $Billion
Figure 93 North America Rare Disease Diagnostics Market (by Country)
Figure 94 North America Rare Disease Diagnostics Market (by Country), 2017-2025
Figure 95 The U.S. Rare Disease Diagnostics Market, 2017-2025
Figure 96 Canada Rare Disease Diagnostics Market, 2017-2025
Figure 97 Europe Market Value, Billion
Figure 98 Europe Rare Disease Diagnostics Market Share (by Country)
Figure 99 Europe Rare Disease Diagnostics Market (by Country), 2017-2025
Figure 100 U.K Rare Disease Diagnostics Market, 2017-2025
Figure 101 Germany Rare Disease Diagnostics Market, 2017-2025
Figure 102 France Rare Disease Diagnostics Market, 2017-2025
Figure 103 Russia Rare Disease Diagnostics Market, 2017-2025
Figure 104 Italy Rare Disease Diagnostics Market, 2017-2025
Figure 105 Spain Rare Disease Diagnostics Market, 2017-2025
Figure 106 Rest-of-Europe Rare Disease Diagnostics Market, 2017-2025
Figure 107 Latin America Market Value, Billion
Figure 108 Latin America Rare Disease Diagnostics Market (by Country)
Figure 109 Latin America Rare Disease Diagnostics Market (by Country), 2017-2025
Figure 110 Brazil Rare Disease Diagnostics Market, 2017-2025
Figure 111 Mexico Rare Disease Diagnostics Market, 2017-2025
Figure 112 Rest-of-Latin America Rare Disease Diagnostics Market, 2017-2025
Figure 113 Market Value, Billion
Figure 114 Asia Pacific Rare Disease Diagnostics Market (by Country)
Figure 115 Asia Pacific Rare Disease Diagnostics Market (by Country), 2017-2025
Figure 116 China Rare Disease Diagnostics Market, 2017-2025
Figure 117 India Rare Disease Diagnostics Market, 2017-2025
Figure 118 Japan Rare Disease Diagnostics Market, 2017-2025
Figure 119 Australia Rare Disease Diagnostics Market, 2017-2025
Figure 120 Singapore Rare Disease Diagnostics Market, 2017-2025
Figure 121 Rest-of-Asia-Pacific Rare Disease Diagnostics Market, 2017-2025
Figure 122 MEA Market Value, Billion
Figure 123 MEA Rare Disease Diagnostics Market (by Country)
Figure 124 MEA Rare Disease Diagnostics Market (by Country), 2017-2025
Figure 125 GCC Countries Rare Disease Diagnostics Market, 2017-2025
Figure 126 South Africa Rare Disease Diagnostics Market, 2017-2025
Figure 127 Rest-of-MEA Rare Disease Diagnostics Market, 2017-2025

Companies Mentioned
• 23andMe, Inc.
• 3billion, Inc.
• BGI
• Centogene A.G.
• Eurofins Scientific
• GENEWIZ
• Illumina Inc.
• InDepth Genomics
• Laboratory Corporation of America
• Partek, Inc.
• PerkinElmer, Inc.
• Personal Genome Diagnostics, Inc.
• QIAGEN N.V.
• Retrophin, Inc.
• Strand Life Sciences Pvt Ltd.