Global Rare Disease Diagnostics Market

Focus on Disease, Trait Type, Products, Age Group, Test Type, Technology, End User, Country Data (15 Countries), and Competitive Landscape - Analysis and Forecast, 2020-2030

Published Year: 2021
SKU: BHP0644SB

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Table of Contents

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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

 
 

Report Description

Market Report Coverage - Rare Disease Diagnostics

Base Year

2019

Market Size in 2019

$28.68 Billion

Forecast Period

2020-2030

Value Projection and Estimation by 2030

$70.69 Billion

CAGR During Forecast Period

8.57%

Number of Tables

3

Number of Pages

226

Number of Figures

168

Research Hours

 

 

 

Market Segmentation

•    Disease Type: Gastroenterology Disease, Endocrine and Metabolism Disorders Disease, Cardiovascular Disorders, Neurology Disease, Hematology and Oncology Disease, Dermatology Disease

•    Product Type: Kits and Assays, Panels

•    Sample Type: DNA Sample, Buccal Swab Sample, Blood, Saliva

•    Technology: Capillary Sequencing, Whole Genome Sequencing, Whole Exome Sequencing, Microarrays

•    Trait Type: Inherited, Acquired

•    Test Type: Genetic Test, General Lab Test, Imaging Test

•    Age Group: Children Age, Adult Age

•    End User: Hospital Laboratories, Diagnostics Laboratories, Genetic Testing Laboratories, Cancer Research Laboratories

Regional Segmentation

•    North America – U.S., Canada

•    Europe – Germany, France, Italy, U.K., Spain, Russia

•    Asia-Pacific – Japan, China, India, Australia, Singapore

•    Latin America – Brazil, Mexico

•    Rest-of-the-World – Kingdom of Saudi Arabia (K.S.A.), U.A.E., Palestine, Algeria

Growth Drivers

•    Rising Prevalence of Genetic Disorders

•    Increasing Research and Development in the Field of Rare Disease Diagnostics

•    Rare Genome Projects Leading to Rise in Awareness Regarding Treatment of Disease

•    Commitment of Big Pharma and Biotech Companies to Rare Diseases

Market Challenges

•    Expensive Sequencing Procedures and Their Applications in Medical Treatments

•    High Capital Requirement Hampering the Expansion of Global Reach

•    Stringent Regulatory Standards

Market Opportunities

•    Technological Advancements in Sample Preparation for Whole Genome and Exome Sequencing in Rare Disease Sequencing

•    Huge Opportunity for Pharma and Medical Devices and Biotechnology Companies

•    Orphan Drugs Approval Anticipated Future Potential to the Rare Disease Diagnostics Market

Key Companies Profiled

23andMe Inc., 3billion, Inc., Agilent Technologies, Inc., Beijing Genomics Institute (BGI), CENTOGENE N.V., Eurofins Scientific SE, GENEWIZ, Inc., Illumina, Inc., In-Depth Genomics, Invitae Corporation, Laboratory Corporation of America Holdings, OPKO Health, PerkinElmer, Inc., Quest Diagnostics Incorporated, Travere Therapeutics, Inc.

Key Questions Answered in this Report:

•    What are the possible long-term and short-term impacts of rare disease testing on the human health continuum?
•    What are the major market drivers, challenges, and opportunities in the rare disease testing?
•    What are the key development strategies being implemented by the major players in order to sustain in the competitive market? 
•    What are the key regulatory implications in developed and developing regions for the global rare disease diagnostics market?
•    How are service-based companies impacting the growth of the global rare disease testing industry and further shaping up future trends?
•    How is each segment of the market expected to grow during the forecast period from 2020 to 2030?
•    Who are the leading players with significant offerings to the global rare disease diagnostics market and what is the expected market dominance for each of these leading players? 
•    Which companies are anticipated to be highly disruptive in the future, and why?
•    What are the unmet needs that are yet to be met by the global rare disease diagnostics market with respect to the application areas?
•    What are the dynamics of various application areas and countries, which are impacting the global rare disease diagnostics market?
•    What are the new market opportunities of various technologies that are influencing the growth of the global rare disease diagnostics market?
•    How is each segment of the market is expected to grow during the forecast period from 2020 to 2030? Following are the segment types: 
        o    Product 
        o    Sample 
        o    Technology 
        o    Age group 
        o    Trait 
        o    Test 
        o    End user
        o    Region

Market Overview

Rare disease diagnostics has grown significantly since the technology was first commercialized with whole genome and exome sequencing, but it is important to quantify that growth and describe future trends. The genome testing industry is proliferating, and its growth is expected to continue at a torrid pace. However, there are significant challenges that may dampen future growth, if not addressed.

Our healthcare experts have found rare disease diagnostics to be one of the most rapidly evolving technologies, and the global market is predicted to grow at a CAGR of 8.57% over the forecast period of 2020-2030.

The unmet clinical needs for better tools to predict, diagnose, treat, and monitor diseases are acting as significant factors driving the growth of the sequencing industry. Other factors fueling the growth include increased understanding of the molecular basis of diseases, patient demand, industry investment, and regulations that allow marketing of tests without the FDA approval.

Despite rapid advanced sequencing industry growth, there are several key issues that need to be addressed to facilitate future growth. The relatively high total costs of delivering sequencing test results compared with other technology platforms, and limited coverage by payers, are the key challenges to the growth of this industry. Whole genome and exome sequencing remain relatively costly, requiring initial equipment investment, specialized workforce requirements, and time-intensive variant interpretation.

Within the research report, the market has been segmented on the basis of disease type, product, sample, age group, testing type, technology, end user, and region. Each of these segments cover the snapshot of the market over the projected years, the inclination of the market revenue, underlying patterns, and trends by using analytics on the primary and secondary data obtained.

Competitive Landscape

The exponential rise in the application of next-generation sequencing on the global level has created a buzz among companies to invest in the products and services of next-generation sequencing used for rare disease diagnostics. Due to the diverse product portfolio and intense market penetration, whole genome and exome have been pioneers in this field and significant competitors in this market.

Based on region, North America holds the largest share, owing to improved healthcare infrastructure, rise in per capita income, and improvised reimbursement policies in the region. Apart from this, Latin America and the Asia-Pacific are anticipated to grow at the fastest CAGR during the forecast period.

FAQ's

Q. What is the estimated growth rate for rare disease diagnostics market in the coming years?

The rare disease diagnostics market is expected to reach $70.69 billion by 2030, growing at a CGR of 8.57% during the forecast period, 2020-2030.

Q. What are the possible drivers that can boost the growth of the rare disease diagnostics market?

The possible factors driving the growth of the market include rising prevalence of genetic disorders, increasing research and development in the field of rare disease diagnostics, rare genome projects leading to rise in awareness regarding treatment of disease, and    commitment of big pharma and biotech companies to rare diseases.

Q. What are the different disease types for which rare disease diagnostics can be used?

Diseases for which rare disease diagnostic can be used include gastroenterology disease, endocrine and metabolism disorders disease, cardiovascular disorders, neurology disease, hematology and oncology disease, and dermatology disease.

Q. Which end-user industries are covered under rare disease diagnostics market?

End-user industries covered under rare disease diagnostics market include hospital laboratories, diagnostics laboratories, genetic testing laboratories, cancer research laboratories.

Q. Which are the top market players operating in the rare disease diagnostics market?

Some of the key players operating in the market include 23andMe Inc., 3billion, Inc., Agilent Technologies, Inc., Beijing Genomics Institute (BGI), CENTOGENE N.V., Eurofins Scientific SE, GENEWIZ, Inc., Illumina, Inc., In-Depth Genomics, Invitae Corporation, Laboratory Corporation of America Holdings, OPKO Health, PerkinElmer, Inc., Quest Diagnostics Incorporated, Travere Therapeutics, Inc.

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Global Rare Disease Diagnostics Market

Focus on Disease, Trait Type, Products, Age Group, Test Type, Technology, End User, Country Data (15 Countries), and Competitive Landscape - Analysis and Forecast, 2020-2030