Global Rare Disease Diagnostics Market

Global Rare Disease Diagnostics Market: Focus on Genetic Diseases, Service Providers, Competitive Landscape, and Country - Analysis and Forecast, 2018-2025

The global rare disease diagnostics market was valued $45.18 billion in 2017 and is anticipated to reach $86.15 billion by 2025.

SKU: BH071A
Published Year: 2018
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Rare diseases, also known as orphan diseases, have become a major health burden in the recent times. Comprising 6000-7000 life threatening diseases, rare diseases affect small percentage of the population. Every country has their own definition of rare disease based on the country’s population. In the initial years, pharmaceutical companies were less interested in adopting them to develop treatments for such a small patient population, therefore the US FDA started giving orphan drug designations to the drug candidates intended to treat rare diseases. Orphan drug designations benefit companies from incentives for the development of these products until the marketing approval. The major challenge in rare diseases treatment is the lack of diagnosis, government policies, awareness and funding for R&D, along with long diagnostic delays.

The increasing patient pool for rare disease cancer, government funding to accelerate research in rare diseases, and interest of big pharmaceutical companies in manufacturing orphan drugs and orphan disease diagnostic devices are expected to be the major factors for the growth of the market. Pharmaceutical giants such as Shire and Qiagen are investing in the R&D for the development of innovative and improved diagnostic devices and assays for rare disease. Rise in the awareness level among people on rare diseases is also expected to fuel the growth of the market. The rare disease has different definitions across different countries. Rare diseases are genetically inherited and is difficult and expensive to diagnose and with are few treatment options. A disease is known as rare in the United States if it affects fewer to 200,000 people, and in Europe, a disease is referred to as rare if it affects one in 2000 people. Rare diseases are also referred to those diseases that are underappreciated or ignored by the medical community and drug companies

The global rare disease diagnostic market is segmented based on disease type, test type, age, trait, end-user, and region. The disease type segment is further sub-segmented into gastroenterology, endocrine and metabolism disorders, cardiovascular disorders, neurology, hematology and oncology, dermatology, and other therapeutic areas.  The test type segment is further segmented as genetic tests, general lab tests, imaging, and other physical tests for rare diseases. On the basis of trait type, the rare disease diagnostic market is segmented as inherited and acquired. Based on the age group, the rare disease diagnostic market is segmented into children and adults. On the basis of end user, the rare disease diagnostic marker is segmented as hospital laboratories, diagnostic laboratory, genetic testing laboratories, cancer research laboratories, and others genetic services area. The market analysis includes an in-depth examination of the key ecosystem players, key strategies, and developments taking place in this market. Additionally, it includes market dynamics (market drivers, opportunities, and challenges) and industry analysis. Geographically, the market can be segmented into five distinct regions including, North America, Europe, Asia-Pacific, Latin America, and Middle East Africa (MEA).

The purpose of the study is to gain a holistic view of the global rare disease diagnostic market in terms of various factors influencing it such as key market trends, competitive and regulatory aspects of the market, and scientific innovations with respect to gene sequencing. The scope of the report is centered upon conducting a detailed study of the diagnostic devices/services and assays used to diagnose rare disease. It involves wide range of diagnostic tests such as genetic tests (genome sequencing and exome sequencing), lab tests, imaging, and physical examinations that are performed in diagnostic laboratories, hospitals, cancer research institutes and other gene sequencing institutes/companies.

The rare disease diagnostic market is divided into six different segments: diseases, test type, ‘trait, age, end user, and region. The report offers the reader with an opportunity to unlock comprehensive insights with respect to the market and helps in forming well informed strategic decisions. The research uncovers some of the substantial parameters that must be taken into consideration before entering the market.

This research report aims at answering questions related to various aspects of the global market with the help of the key factors driving the market, threats that can possibly inhibit the overall market growth, and the current growth opportunities that are going to shape the future trajectory of the market expansion. The study considers the growth-share matrix model for a comprehensive study of the global enzyme market, and assesses the factors governing the same. Opportunity matrix and detailed product mapping have been included in the report. The market by region has been further sub-segmented in various countries, and in each sub-segment the key market trends, list of the key players, and recent developments, have been discussed.

Key questions answered in the report:

•    What are the major market drivers, restraints, and opportunities in the global rare disease diagnostic market?
•    What were the market shares of the leading segments and sub-segments of the global rare disease diagnostic market in 2017, and what will be shares in 2025? 
•    How will each segment of the global rare disease diagnostic market grow during the forecast period, and what will be the revenue generated by each of the segments by the end of 2025?
•    What are the influencing factors that may affect the market share of the key players?
•    What are the key developmental strategies implemented by the key players to stand out in this market?
•    What are the major regulatory authorities/associations/consortiums affecting the global rare disease diagnostic market, and who are the key authorities facilitating development and approval of diagnostic products/services?
•    Which companies are holding gene sequencing services, and what is the epidemiology of the rare diseases?
•    What are the types of genetic tests involved in the diagnosis of rare diseases, and what is the market share for various test types performed in the diagnosis of rare diseases?
•    Which test type will be dominant among physicians for diagnosing rare diseases in terms of revenue?
•    Which disease type is expected to have the highest CAGR during the forecast period?
•    Which test type is expected to register the highest CAGR for the global rare disease diagnostic market? 
•    Which end user  is expected to register the highest CAGR for the global rare disease diagnostic market? 
•    Which geographical region will contribute to the highest revenue for rare disease diagnosis during the forecast period?

The report also profiles 15 companies including several key players that have been contributing significantly to the market. They key players of the market include Retrophin, Inc., 3billion, Inc., 23andMe, Inc., QIAGEN N.V., Illumina Inc., PerkinElmer, Inc., BGI, Partek, Inc., GENEWIZ, Centogene A.G., Strand Life Sciences Pvt Ltd., Eurofins Scientific, Laboratory Corporation of America, and Laboratory Corporation of America, among others.

   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

Rare diseases have become a major health burden in the recent times. Also known as orphan diseases, rare diseases are a group of 6000-7000 life threatening diseases affecting a small percentage of the population. Countries also have their own definition of rare disease based on the population. Rare diseases are also known as orphan diseases because pharmaceutical companies were less interested in adopting them to develop treatments for small patient population. The US FDA then decided to design drugs as orphan drugs and give incentives to encourage companies to develop diagnostics and treatment options for rare diseases. The major challenge in the case of rare diseases is the lack of diagnosis and treatment options, government policies, and funding for research and development.

The global rare disease diagnostics market was valued $45.18 billion in 2017 and is anticipated to reach $86.15 billion by 2025. Factors such as high incidence of rare diseases, presence of large numbers of research and development facilities for rare diseases, significant number of rare disease registries, high diagnosis rare of rare diseases in countries of North America, and extensive investments in different therapeutic areas are driving the growth of the North America rare disease diagnostics market. However, the Asia Pacific region is expected to register the highest CAGR of 9.22% during the forecast period 2018-2025.

The purpose of the study is to gain a holistic view of the global rare disease diagnostics market in terms of various factors influencing it such as key market trends, competitive and regulatory aspects of the market, and scientific innovations with respect to gene sequencing. The scope of the report is centered upon conducting a detailed study of the diagnostic devices/services, assays used to diagnose rare diseases. Rare disease diagnosis involves wide range of diagnostic tests such as genetic tests, lab tests, imaging, physical examinations performed in diagnostic laboratories, hospitals, cancer research institutes and others. The rare disease diagnostics market is divided into six different segments: diseases, test type, trait, age, end user, and region. The report offers the reader with an opportunity to unlock comprehensive insights with respect to the market and helps in forming well-informed strategic decisions. The research uncovers some of the substantial parameters that must be taken into consideration before entering the market.

The global rare disease diagnostics market (by disease type) is currently dominated by hematology and oncology segment. The contribution of hematology and oncology segment was valued $10.0 billion in 2017 and is expected to reach $20.5 billion by 2025, witnessing a CAGR of 9.35% during the forecast period.

Based on test type, the market is segmented into genetic tests, general lab tests, imaging, and other physical tests for rare diseases. Rare diseases are difficult to diagnose and according to NIH, as many as 80 % of rare diseases are genetic in origin, thus often requiring genetic test for diagnosis

Based on the trait type, the market is segmented into inherited and acquired. Based on the age group, the market is segmented into children and adults. About 80% of rare diseases are not acquired, they are inherited or has predisposition of faulty gene. The average time to diagnosis is approximately 5-6 years and 40% of rare diseases are misdiagnosed. Children account for 50 % of rare disease patients. According to the Canadian Organization of Rare Diseases, two-third of Canadians suffering from rare disease are children. Another extremely unfortunate fact is that thirty percent of children with rare diseases are not likely to reach their fifth birthday.

Geographically, the market is segmented into five distinct regions including North America, Europe, Asia-Pacific, Latin America, and Middle East Africa (MEA). North America, followed by Europe, is the leading contributor of the market. Within North America, the U.S. contributed for almost 91.12% of the total share, and the rest was occupied by Canada in 2017. Within Europe, the U.K dominated the market in 2017. However, the market for the Asia-pacific region is expected to demonstrate high growth rate during the forecast period from 2018 to 2025, as compared to other regions, and the region holds a strong potential for market expansion in the future.

The rare disease diagnostics market (by genetic tests) has a promising potential for growth in the coming years. The report provides an in-depth SWOT analysis of different key players of the market, supported by extensive financial summary of each company. The key players of the market include Retrophin, Inc., QIAGEN N.V., Illumina Inc., PerkinElmer, Inc., BGI, Partek, Inc., Centogene A.G., Strand Life Sciences Pvt Ltd., Eurofins Scientific, Laboratory Corporation of America, and Laboratory Corporation of America, among others.

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Rare diseases, also known as orphan diseases, have become a major health burden in the recent times. Comprising 6000-7000 life threatening diseases, rare diseases affect small percentage of the population. Every country has their own definition of rare disease based on the country’s population. In the initial years, pharmaceutical companies were less interested in adopting them to develop treatments for such a small patient population, therefore the US FDA started giving orphan drug designations to the drug candidates intended to treat rare diseases. Orphan drug designations benefit companies from incentives for the development of these products until the marketing approval. The major challenge in rare diseases treatment is the lack of diagnosis, government policies, awareness and funding for R&D, along with long diagnostic delays.

The increasing patient pool for rare disease cancer, government funding to accelerate research in rare diseases, and interest of big pharmaceutical companies in manufacturing orphan drugs and orphan disease diagnostic devices are expected to be the major factors for the growth of the market. Pharmaceutical giants such as Shire and Qiagen are investing in the R&D for the development of innovative and improved diagnostic devices and assays for rare disease. Rise in the awareness level among people on rare diseases is also expected to fuel the growth of the market. The rare disease has different definitions across different countries. Rare diseases are genetically inherited and is difficult and expensive to diagnose and with are few treatment options. A disease is known as rare in the United States if it affects fewer to 200,000 people, and in Europe, a disease is referred to as rare if it affects one in 2000 people. Rare diseases are also referred to those diseases that are underappreciated or ignored by the medical community and drug companies

The global rare disease diagnostic market is segmented based on disease type, test type, age, trait, end-user, and region. The disease type segment is further sub-segmented into gastroenterology, endocrine and metabolism disorders, cardiovascular disorders, neurology, hematology and oncology, dermatology, and other therapeutic areas.  The test type segment is further segmented as genetic tests, general lab tests, imaging, and other physical tests for rare diseases. On the basis of trait type, the rare disease diagnostic market is segmented as inherited and acquired. Based on the age group, the rare disease diagnostic market is segmented into children and adults. On the basis of end user, the rare disease diagnostic marker is segmented as hospital laboratories, diagnostic laboratory, genetic testing laboratories, cancer research laboratories, and others genetic services area. The market analysis includes an in-depth examination of the key ecosystem players, key strategies, and developments taking place in this market. Additionally, it includes market dynamics (market drivers, opportunities, and challenges) and industry analysis. Geographically, the market can be segmented into five distinct regions including, North America, Europe, Asia-Pacific, Latin America, and Middle East Africa (MEA).

The purpose of the study is to gain a holistic view of the global rare disease diagnostic market in terms of various factors influencing it such as key market trends, competitive and regulatory aspects of the market, and scientific innovations with respect to gene sequencing. The scope of the report is centered upon conducting a detailed study of the diagnostic devices/services and assays used to diagnose rare disease. It involves wide range of diagnostic tests such as genetic tests (genome sequencing and exome sequencing), lab tests, imaging, and physical examinations that are performed in diagnostic laboratories, hospitals, cancer research institutes and other gene sequencing institutes/companies.

The rare disease diagnostic market is divided into six different segments: diseases, test type, ‘trait, age, end user, and region. The report offers the reader with an opportunity to unlock comprehensive insights with respect to the market and helps in forming well informed strategic decisions. The research uncovers some of the substantial parameters that must be taken into consideration before entering the market.

This research report aims at answering questions related to various aspects of the global market with the help of the key factors driving the market, threats that can possibly inhibit the overall market growth, and the current growth opportunities that are going to shape the future trajectory of the market expansion. The study considers the growth-share matrix model for a comprehensive study of the global enzyme market, and assesses the factors governing the same. Opportunity matrix and detailed product mapping have been included in the report. The market by region has been further sub-segmented in various countries, and in each sub-segment the key market trends, list of the key players, and recent developments, have been discussed.

Key questions answered in the report:

•    What are the major market drivers, restraints, and opportunities in the global rare disease diagnostic market?
•    What were the market shares of the leading segments and sub-segments of the global rare disease diagnostic market in 2017, and what will be shares in 2025? 
•    How will each segment of the global rare disease diagnostic market grow during the forecast period, and what will be the revenue generated by each of the segments by the end of 2025?
•    What are the influencing factors that may affect the market share of the key players?
•    What are the key developmental strategies implemented by the key players to stand out in this market?
•    What are the major regulatory authorities/associations/consortiums affecting the global rare disease diagnostic market, and who are the key authorities facilitating development and approval of diagnostic products/services?
•    Which companies are holding gene sequencing services, and what is the epidemiology of the rare diseases?
•    What are the types of genetic tests involved in the diagnosis of rare diseases, and what is the market share for various test types performed in the diagnosis of rare diseases?
•    Which test type will be dominant among physicians for diagnosing rare diseases in terms of revenue?
•    Which disease type is expected to have the highest CAGR during the forecast period?
•    Which test type is expected to register the highest CAGR for the global rare disease diagnostic market? 
•    Which end user  is expected to register the highest CAGR for the global rare disease diagnostic market? 
•    Which geographical region will contribute to the highest revenue for rare disease diagnosis during the forecast period?

The report also profiles 15 companies including several key players that have been contributing significantly to the market. They key players of the market include Retrophin, Inc., 3billion, Inc., 23andMe, Inc., QIAGEN N.V., Illumina Inc., PerkinElmer, Inc., BGI, Partek, Inc., GENEWIZ, Centogene A.G., Strand Life Sciences Pvt Ltd., Eurofins Scientific, Laboratory Corporation of America, and Laboratory Corporation of America, among others.

   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

Rare diseases have become a major health burden in the recent times. Also known as orphan diseases, rare diseases are a group of 6000-7000 life threatening diseases affecting a small percentage of the population. Countries also have their own definition of rare disease based on the population. Rare diseases are also known as orphan diseases because pharmaceutical companies were less interested in adopting them to develop treatments for small patient population. The US FDA then decided to design drugs as orphan drugs and give incentives to encourage companies to develop diagnostics and treatment options for rare diseases. The major challenge in the case of rare diseases is the lack of diagnosis and treatment options, government policies, and funding for research and development.

The global rare disease diagnostics market was valued $45.18 billion in 2017 and is anticipated to reach $86.15 billion by 2025. Factors such as high incidence of rare diseases, presence of large numbers of research and development facilities for rare diseases, significant number of rare disease registries, high diagnosis rare of rare diseases in countries of North America, and extensive investments in different therapeutic areas are driving the growth of the North America rare disease diagnostics market. However, the Asia Pacific region is expected to register the highest CAGR of 9.22% during the forecast period 2018-2025.

The purpose of the study is to gain a holistic view of the global rare disease diagnostics market in terms of various factors influencing it such as key market trends, competitive and regulatory aspects of the market, and scientific innovations with respect to gene sequencing. The scope of the report is centered upon conducting a detailed study of the diagnostic devices/services, assays used to diagnose rare diseases. Rare disease diagnosis involves wide range of diagnostic tests such as genetic tests, lab tests, imaging, physical examinations performed in diagnostic laboratories, hospitals, cancer research institutes and others. The rare disease diagnostics market is divided into six different segments: diseases, test type, trait, age, end user, and region. The report offers the reader with an opportunity to unlock comprehensive insights with respect to the market and helps in forming well-informed strategic decisions. The research uncovers some of the substantial parameters that must be taken into consideration before entering the market.

The global rare disease diagnostics market (by disease type) is currently dominated by hematology and oncology segment. The contribution of hematology and oncology segment was valued $10.0 billion in 2017 and is expected to reach $20.5 billion by 2025, witnessing a CAGR of 9.35% during the forecast period.

Based on test type, the market is segmented into genetic tests, general lab tests, imaging, and other physical tests for rare diseases. Rare diseases are difficult to diagnose and according to NIH, as many as 80 % of rare diseases are genetic in origin, thus often requiring genetic test for diagnosis

Based on the trait type, the market is segmented into inherited and acquired. Based on the age group, the market is segmented into children and adults. About 80% of rare diseases are not acquired, they are inherited or has predisposition of faulty gene. The average time to diagnosis is approximately 5-6 years and 40% of rare diseases are misdiagnosed. Children account for 50 % of rare disease patients. According to the Canadian Organization of Rare Diseases, two-third of Canadians suffering from rare disease are children. Another extremely unfortunate fact is that thirty percent of children with rare diseases are not likely to reach their fifth birthday.

Geographically, the market is segmented into five distinct regions including North America, Europe, Asia-Pacific, Latin America, and Middle East Africa (MEA). North America, followed by Europe, is the leading contributor of the market. Within North America, the U.S. contributed for almost 91.12% of the total share, and the rest was occupied by Canada in 2017. Within Europe, the U.K dominated the market in 2017. However, the market for the Asia-pacific region is expected to demonstrate high growth rate during the forecast period from 2018 to 2025, as compared to other regions, and the region holds a strong potential for market expansion in the future.

The rare disease diagnostics market (by genetic tests) has a promising potential for growth in the coming years. The report provides an in-depth SWOT analysis of different key players of the market, supported by extensive financial summary of each company. The key players of the market include Retrophin, Inc., QIAGEN N.V., Illumina Inc., PerkinElmer, Inc., BGI, Partek, Inc., Centogene A.G., Strand Life Sciences Pvt Ltd., Eurofins Scientific, Laboratory Corporation of America, and Laboratory Corporation of America, among others.

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