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This report elaborates the market size, market characteristics, and market growth of the Rare Disease Diagnostics industry, and breaks down according to the type, application, and consumption area of Rare Disease Diagnostics. The report also conducted a PESTEL analysis of the industry to study the main influencing factors and entry barriers of the industry.
In Chapter 3.4 of the report, the impact of the COVID-19 outbreak on the industry was fully assessed. Fully risk assessment and industry recommendations were made for Rare Disease Diagnostics in a special period. This chapter also compares the markets of Pre COVID-19 and Post COVID-19.
In addition, chapters 8-12 consider the impact of COVID-19 on the regional economy.
Key players in the global Rare Disease Diagnostics market covered in Chapter 13:
Illumina Inc.
PerkinElmer, Inc.
Qiagen Brasil Biotecnologia Ltda
Centogene
The Hospital de Clínicas de Porto Alegre
Recordati S.p.A
Eurofins Scientific
3billion, Inc.
In Chapter 6, on the basis of types, the Rare Disease Diagnostics market from 2015 to 2025 is primarily split into:
Genetic Tests
General Lab Tests
Imaging
Others
In Chapter 7, on the basis of applications, the Rare Disease Diagnostics market from 2015 to 2025 covers:
Hospital Laboratories
Diagnostic Laboratory
Genetic Testing Laboratories
Cancer Research Laboratories
Others
Geographically, the detailed analysis of production, trade of the following countries is covered in Chapter 4.2, 5:
United States
Europe
China
Japan
India
Geographically, the detailed analysis of consumption, revenue, market share and growth rate of the following regions are covered in Chapter 8, 9, 10, 11, 12:
North America (Covered in Chapter 8)
United States
Canada
Mexico
Europe (Covered in Chapter 9)
Germany
UK
France
Italy
Spain
Others
Asia-Pacific (Covered in Chapter 10)
China
Japan
India
South Korea
Southeast Asia
Others
Middle East and Africa (Covered in Chapter 11)
Saudi Arabia
UAE
South Africa
Others
South America (Covered in Chapter 12)
Brazil
Others
Years considered for this report:
Historical Years: 2015-2019
Base Year: 2019
Estimated Year: 2020
Forecast Period: 2020-2025
Table of Content
1 Rare Disease Diagnostics Market - Research Scope
1.1 Study Goals
1.2 Market Definition and Scope
1.3 Key Market Segments
1.4 Study and Forecasting Years
2 Rare Disease Diagnostics Market - Research Methodology
2.1 Methodology
2.2 Research Data Source
2.2.1 Secondary Data
2.2.2 Primary Data
2.2.3 Market Size Estimation
2.2.4 Legal Disclaimer
3 Rare Disease Diagnostics Market Forces
3.1 Global Rare Disease Diagnostics Market Size
3.2 Top Impacting Factors (PESTEL Analysis)
3.2.1 Political Factors
3.2.2 Economic Factors
3.2.3 Social Factors
3.2.4 Technological Factors
3.2.5 Environmental Factors
3.2.6 Legal Factors
3.3 Industry Trend Analysis
3.4 Industry Trends Under COVID-19
3.4.1 Risk Assessment on COVID-19
3.4.2 Assessment of the Overall Impact of COVID-19 on the Industry
3.4.3 Pre COVID-19 and Post COVID-19 Market Scenario
3.5 Industry Risk Assessment
4 Rare Disease Diagnostics Market - By Geography
4.1 Global Rare Disease Diagnostics Market Value and Market Share by Regions
4.1.1 Global Rare Disease Diagnostics Value ($) by Region (2015-2020)
4.1.2 Global Rare Disease Diagnostics Value Market Share by Regions (2015-2020)
4.2 Global Rare Disease Diagnostics Market Production and Market Share by Major Countries
4.2.1 Global Rare Disease Diagnostics Production by Major Countries (2015-2020)
4.2.2 Global Rare Disease Diagnostics Production Market Share by Major Countries (2015-2020)
4.3 Global Rare Disease Diagnostics Market Consumption and Market Share by Regions
4.3.1 Global Rare Disease Diagnostics Consumption by Regions (2015-2020)
4.3.2 Global Rare Disease Diagnostics Consumption Market Share by Regions (2015-2020)
5 Rare Disease Diagnostics Market - By Trade Statistics
5.1 Global Rare Disease Diagnostics Export and Import
5.2 United States Rare Disease Diagnostics Export and Import (2015-2020)
5.3 Europe Rare Disease Diagnostics Export and Import (2015-2020)
5.4 China Rare Disease Diagnostics Export and Import (2015-2020)
5.5 Japan Rare Disease Diagnostics Export and Import (2015-2020)
5.6 India Rare Disease Diagnostics Export and Import (2015-2020)
5.7
6 Rare Disease Diagnostics Market - By Type
6.1 Global Rare Disease Diagnostics Production and Market Share by Types (2015-2020)
6.1.1 Global Rare Disease Diagnostics Production by Types (2015-2020)
6.1.2 Global Rare Disease Diagnostics Production Market Share by Types (2015-2020)
6.2 Global Rare Disease Diagnostics Value and Market Share by Types (2015-2020)
6.2.1 Global Rare Disease Diagnostics Value by Types (2015-2020)
6.2.2 Global Rare Disease Diagnostics Value Market Share by Types (2015-2020)
6.3 Global Rare Disease Diagnostics Production, Price and Growth Rate of Genetic Tests (2015-2020)
6.4 Global Rare Disease Diagnostics Production, Price and Growth Rate of General Lab Tests (2015-2020)
6.5 Global Rare Disease Diagnostics Production, Price and Growth Rate of Imaging (2015-2020)
6.6 Global Rare Disease Diagnostics Production, Price and Growth Rate of Others (2015-2020)
7 Rare Disease Diagnostics Market - By Application
7.1 Global Rare Disease Diagnostics Consumption and Market Share by Applications (2015-2020)
7.1.1 Global Rare Disease Diagnostics Consumption by Applications (2015-2020)
7.1.2 Global Rare Disease Diagnostics Consumption Market Share by Applications (2015-2020)
7.2 Global Rare Disease Diagnostics Consumption and Growth Rate of Hospital Laboratories (2015-2020)
7.3 Global Rare Disease Diagnostics Consumption and Growth Rate of Diagnostic Laboratory (2015-2020)
7.4 Global Rare Disease Diagnostics Consumption and Growth Rate of Genetic Testing Laboratories (2015-2020)
7.5 Global Rare Disease Diagnostics Consumption and Growth Rate of Cancer Research Laboratories (2015-2020)
7.6 Global Rare Disease Diagnostics Consumption and Growth Rate of Others (2015-2020)
8 North America Rare Disease Diagnostics Market
8.1 North America Rare Disease Diagnostics Market Size
8.2 United States Rare Disease Diagnostics Market Size
8.3 Canada Rare Disease Diagnostics Market Size
8.4 Mexico Rare Disease Diagnostics Market Size
8.5 The Influence of COVID-19 on North America Market
9 Europe Rare Disease Diagnostics Market Analysis
9.1 Europe Rare Disease Diagnostics Market Size
9.2 Germany Rare Disease Diagnostics Market Size
9.3 United Kingdom Rare Disease Diagnostics Market Size
9.4 France Rare Disease Diagnostics Market Size
9.5 Italy Rare Disease Diagnostics Market Size
9.6 Spain Rare Disease Diagnostics Market Size
9.7 The Influence of COVID-19 on Europe Market
10 Asia-Pacific Rare Disease Diagnostics Market Analysis
10.1 Asia-Pacific Rare Disease Diagnostics Market Size
10.2 China Rare Disease Diagnostics Market Size
10.3 Japan Rare Disease Diagnostics Market Size
10.4 South Korea Rare Disease Diagnostics Market Size
10.5 Southeast Asia Rare Disease Diagnostics Market Size
10.6 India Rare Disease Diagnostics Market Size
10.7 The Influence of COVID-19 on Asia Pacific Market
11 Middle East and Africa Rare Disease Diagnostics Market Analysis
11.1 Middle East and Africa Rare Disease Diagnostics Market Size
11.2 Saudi Arabia Rare Disease Diagnostics Market Size
11.3 UAE Rare Disease Diagnostics Market Size
11.4 South Africa Rare Disease Diagnostics Market Size
11.5 The Influence of COVID-19 on Middle East and Africa Market
12 South America Rare Disease Diagnostics Market Analysis
12.1 South America Rare Disease Diagnostics Market Size
12.2 Brazil Rare Disease Diagnostics Market Size
12.3 The Influence of COVID-19 on South America Market
13 Company Profiles
13.1 Illumina Inc.
13.1.1 Illumina Inc. Basic Information
13.1.2 Illumina Inc. Product Profiles, Application and Specification
13.1.3 Illumina Inc. Rare Disease Diagnostics Market Performance (2015-2020)
13.2 PerkinElmer, Inc.
13.2.1 PerkinElmer, Inc. Basic Information
13.2.2 PerkinElmer, Inc. Product Profiles, Application and Specification
13.2.3 PerkinElmer, Inc. Rare Disease Diagnostics Market Performance (2015-2020)
13.3 Qiagen Brasil Biotecnologia Ltda
13.3.1 Qiagen Brasil Biotecnologia Ltda Basic Information
13.3.2 Qiagen Brasil Biotecnologia Ltda Product Profiles, Application and Specification
13.3.3 Qiagen Brasil Biotecnologia Ltda Rare Disease Diagnostics Market Performance (2015-2020)
13.4 Centogene
13.4.1 Centogene Basic Information
13.4.2 Centogene Product Profiles, Application and Specification
13.4.3 Centogene Rare Disease Diagnostics Market Performance (2015-2020)
13.5 The Hospital de Clínicas de Porto Alegre
13.5.1 The Hospital de Clínicas de Porto Alegre Basic Information
13.5.2 The Hospital de Clínicas de Porto Alegre Product Profiles, Application and Specification
13.5.3 The Hospital de Clínicas de Porto Alegre Rare Disease Diagnostics Market Performance (2015-2020)
13.6 Recordati S.p.A
13.6.1 Recordati S.p.A Basic Information
13.6.2 Recordati S.p.A Product Profiles, Application and Specification
13.6.3 Recordati S.p.A Rare Disease Diagnostics Market Performance (2015-2020)
13.7 Eurofins Scientific
13.7.1 Eurofins Scientific Basic Information
13.7.2 Eurofins Scientific Product Profiles, Application and Specification
13.7.3 Eurofins Scientific Rare Disease Diagnostics Market Performance (2015-2020)
13.8 3billion, Inc.
13.8.1 3billion, Inc. Basic Information
13.8.2 3billion, Inc. Product Profiles, Application and Specification
13.8.3 3billion, Inc. Rare Disease Diagnostics Market Performance (2015-2020)
14 Market Forecast - By Regions
14.1 North America Rare Disease Diagnostics Market Forecast (2020-2025)
14.2 Europe Rare Disease Diagnostics Market Forecast (2020-2025)
14.3 Asia-Pacific Rare Disease Diagnostics Market Forecast (2020-2025)
14.4 Middle East and Africa Rare Disease Diagnostics Market Forecast (2020-2025)
14.5 South America Rare Disease Diagnostics Market Forecast (2020-2025)
15 Market Forecast - By Type and Applications
15.1 Global Rare Disease Diagnostics Market Forecast by Types (2020-2025)
15.1.1 Global Rare Disease Diagnostics Market Forecast Production and Market Share by Types (2020-2025)
15.1.2 Global Rare Disease Diagnostics Market Forecast Value and Market Share by Types (2020-2025)
15.2 Global Rare Disease Diagnostics Market Forecast by Applications (2020-2025)
List of Tables and Figures
Figure Rare Disease Diagnostics Picture
Table Rare Disease Diagnostics Key Market Segments
Figure Study and Forecasting Years
Figure Global Rare Disease Diagnostics Market Size and Growth Rate 2015-2025
Figure Industry PESTEL Analysis
Figure Global COVID-19 Status
Figure Market Size Forecast Comparison of Pre COVID-19 and Post COVID-19
Figure Global Rare Disease Diagnostics Value ($) and Growth Rate (2015-2020)
Table Global Rare Disease Diagnostics Value ($) by Countries (2015-2020)
Table Global Rare Disease Diagnostics Value Market Share by Regions (2015-2020)
Figure Global Rare Disease Diagnostics Value Market Share by Regions in 2019
Figure Global Rare Disease Diagnostics Production and Growth Rate (2015-2020)
Table Global Rare Disease Diagnostics Production by Major Countries (2015-2020)
Table Global Rare Disease Diagnostics Production Market Share by Major Countries (2015-2020)
Figure Global Rare Disease Diagnostics Production Market Share by Regions in 2019
Figure Global Rare Disease Diagnostics Consumption and Growth Rate (2015-2020)
Table Global Rare Disease Diagnostics Consumption by Regions (2015-2020)
Table Global Rare Disease Diagnostics Consumption Market Share by Regions (2015-2020)
Figure Global Rare Disease Diagnostics Consumption Market Share by Regions in 2019
Table Global Rare Disease Diagnostics Export Top 3 Country 2019
Table Global Rare Disease Diagnostics Import Top 3 Country 2019
Table United States Rare Disease Diagnostics Export and Import (2015-2020)
Table Europe Rare Disease Diagnostics Export and Import (2015-2020)
Table China Rare Disease Diagnostics Export and Import (2015-2020)
Table Japan Rare Disease Diagnostics Export and Import (2015-2020)
Table India Rare Disease Diagnostics Export and Import (2015-2020)
Table Global Rare Disease Diagnostics Production by Types (2015-2020)
Table Global Rare Disease Diagnostics Production Market Share by Types (2015-2020)
Figure Global Rare Disease Diagnostics Production Share by Type (2015-2020)
Table Global Rare Disease Diagnostics Value by Types (2015-2020)
Table Global Rare Disease Diagnostics Value Market Share by Types (2015-2020)
Figure Global Rare Disease Diagnostics Value Share by Type (2015-2020)
Figure Global Genetic Tests Production and Growth Rate (2015-2020)
Figure Global Genetic Tests Price (2015-2020)
Figure Global General Lab Tests Production and Growth Rate (2015-2020)
Figure Global General Lab Tests Price (2015-2020)
Figure Global Imaging Production and Growth Rate (2015-2020)
Figure Global Imaging Price (2015-2020)
Figure Global Others Production and Growth Rate (2015-2020)
Figure Global Others Price (2015-2020)
Table Global Rare Disease Diagnostics Consumption by Applications (2015-2020)
Table Global Rare Disease Diagnostics Consumption Market Share by Applications (2015-2020)
Figure Global Rare Disease Diagnostics Consumption Share by Application (2015-2020)
Figure Global Hospital Laboratories Consumption and Growth Rate (2015-2020)
Figure Global Diagnostic Laboratory Consumption and Growth Rate (2015-2020)
Figure Global Genetic Testing Laboratories Consumption and Growth Rate (2015-2020)
Figure Global Cancer Research Laboratories Consumption and Growth Rate (2015-2020)
Figure Global Others Consumption and Growth Rate (2015-2020)
Figure North America Rare Disease Diagnostics Market Consumption and Growth Rate (2015-2020)
Table North America Rare Disease Diagnostics Consumption by Countries (2015-2020)
Table North America Rare Disease Diagnostics Consumption Market Share by Countries (2015-2020)
Figure North America Rare Disease Diagnostics Consumption Market Share by Countries (2015-2020)
Figure United States Rare Disease Diagnostics Market Consumption and Growth Rate (2015-2020)
Figure Canada Rare Disease Diagnostics Market Consumption and Growth Rate (2015-2020)
Figure Mexico Rare Disease Diagnostics Market Consumption and Growth Rate (2015-2020)
Figure North America COVID-19 Status
Figure Europe Rare Disease Diagnostics Market Consumption and Growth Rate (2015-2020)
Table Europe Rare Disease Diagnostics Consumption by Countries (2015-2020)
Table Europe Rare Disease Diagnostics Consumption Market Share by Countries (2015-2020)
Figure Europe Rare Disease Diagnostics Consumption Market Share by Countries (2015-2020)
Figure Germany Rare Disease Diagnostics Market Consumption and Growth Rate (2015-2020)
Figure United Kingdom Rare Disease Diagnostics Market Consumption and Growth Rate (2015-2020)
Figure France Rare Disease Diagnostics Market Consumption and Growth Rate (2015-2020)
Figure Italy Rare Disease Diagnostics Market Consumption and Growth Rate (2015-2020)
Figure Spain Rare Disease Diagnostics Market Consumption and Growth Rate (2015-2020)
Figure Europe COVID-19 Status
Figure Asia-Pacific Rare Disease Diagnostics Market Consumption and Growth Rate (2015-2020)
Table Asia-Pacific Rare Disease Diagnostics Consumption by Countries (2015-2020)
Table Asia-Pacific Rare Disease Diagnostics Consumption Market Share by Countries (2015-2020)
Figure Asia-Pacific Rare Disease Diagnostics Consumption Market Share by Countries (2015-2020)
Figure China Rare Disease Diagnostics Market Consumption and Growth Rate (2015-2020)
Figure Japan Rare Disease Diagnostics Market Consumption and Growth Rate (2015-2020)
Figure South Korea Rare Disease Diagnostics Market Consumption and Growth Rate (2015-2020)
Figure Southeast Asia Rare Disease Diagnostics Market Consumption and Growth Rate (2015-2020)
Figure India Rare Disease Diagnostics Market Consumption and Growth Rate (2015-2020)
Figure Asia Pacific COVID-19 Status
Figure Middle East and Africa Rare Disease Diagnostics Market Consumption and Growth Rate (2015-2020)
Table Middle East and Africa Rare Disease Diagnostics Consumption by Countries (2015-2020)
Table Middle East and Africa Rare Disease Diagnostics Consumption Market Share by Countries (2015-2020)
Figure Middle East and Africa Rare Disease Diagnostics Consumption Market Share by Countries (2015-2020)
Figure Saudi Arabia Rare Disease Diagnostics Market Consumption and Growth Rate (2015-2020)
Figure UAE Rare Disease Diagnostics Market Consumption and Growth Rate (2015-2020)
Figure South Africa Rare Disease Diagnostics Market Consumption and Growth Rate (2015-2020)
Figure South America Rare Disease Diagnostics Market Consumption and Growth Rate (2015-2020)
Table South America Rare Disease Diagnostics Consumption by Countries (2015-2020)
Table South America Rare Disease Diagnostics Consumption Market Share by Countries (2015-2020)
Figure South America Rare Disease Diagnostics Consumption Market Share by Countries (2015-2020)
Figure Brazil Rare Disease Diagnostics Market Consumption and Growth Rate (2015-2020)
Table Illumina Inc. Company Profile
Table Illumina Inc. Production, Value, Price, Gross Margin 2015-2020
Figure Illumina Inc. Production and Growth Rate
Figure Illumina Inc. Value ($) Market Share 2015-2020
Table PerkinElmer, Inc. Company Profile
Table PerkinElmer, Inc. Production, Value, Price, Gross Margin 2015-2020
Figure PerkinElmer, Inc. Production and Growth Rate
Figure PerkinElmer, Inc. Value ($) Market Share 2015-2020
Table Qiagen Brasil Biotecnologia Ltda Company Profile
Table Qiagen Brasil Biotecnologia Ltda Production, Value, Price, Gross Margin 2015-2020
Figure Qiagen Brasil Biotecnologia Ltda Production and Growth Rate
Figure Qiagen Brasil Biotecnologia Ltda Value ($) Market Share 2015-2020
Table Centogene Company Profile
Table Centogene Production, Value, Price, Gross Margin 2015-2020
Figure Centogene Production and Growth Rate
Figure Centogene Value ($) Market Share 2015-2020
Table The Hospital de Clínicas de Porto Alegre Company Profile
Table The Hospital de Clínicas de Porto Alegre Production, Value, Price, Gross Margin 2015-2020
Figure The Hospital de Clínicas de Porto Alegre Production and Growth Rate
Figure The Hospital de Clínicas de Porto Alegre Value ($) Market Share 2015-2020
Table Recordati S.p.A Company Profile
Table Recordati S.p.A Production, Value, Price, Gross Margin 2015-2020
Figure Recordati S.p.A Production and Growth Rate
Figure Recordati S.p.A Value ($) Market Share 2015-2020
Table Eurofins Scientific Company Profile
Table Eurofins Scientific Production, Value, Price, Gross Margin 2015-2020
Figure Eurofins Scientific Production and Growth Rate
Figure Eurofins Scientific Value ($) Market Share 2015-2020
Table 3billion, Inc. Company Profile
Table 3billion, Inc. Production, Value, Price, Gross Margin 2015-2020
Figure 3billion, Inc. Production and Growth Rate
Figure 3billion, Inc. Value ($) Market Share 2015-2020
Figure North America Market Consumption and Growth Rate Forecast (2020-2025)
Figure Europe Market Consumption and Growth Rate Forecast (2020-2025)
Figure Asia-Pacific Market Consumption and Growth Rate Forecast (2020-2025)
Figure Middle East and Africa Market Consumption and Growth Rate Forecast (2020-2025)
Figure South America Market Consumption and Growth Rate Forecast (2020-2025)
Table Global Rare Disease Diagnostics Market Forecast Production by Types (2020-2025)
Table Global Rare Disease Diagnostics Market Forecast Production Share by Types (2020-2025)
Table Global Rare Disease Diagnostics Market Forecast Value ($) by Types (2020-2025)
Table Global Rare Disease Diagnostics Market Forecast Value Share by Types (2020-2025)
Table Global Rare Disease Diagnostics Market Forecast Consumption by Applications (2020-2025)
Table Global Rare Disease Diagnostics Market Forecast Consumption Share by Applications (2020-2025)
Research Methodology:
Rare Disease Diagnostics Market Size Estimation
To estimate market size and trends, we use a combination of top-down and bottom-up methods. This allows us to evaluate the market from various perspectives—by company, region, product type, and end users.
Our estimates are based on actual sales data, excluding any discounts. Segment breakdowns and market shares are calculated using weighted averages based on usage rates and average prices. Regional insights are determined by how widely a product or service is adopted in each area.
Key companies are identified through secondary sources like industry reports and company filings. We then verify revenue estimates and other key data points through primary research, including interviews with industry experts, company executives, and decision-makers.
We take into account all relevant factors that could influence the market and validate our findings with real-world input. Our final insights combine both qualitative and quantitative data to provide a well-rounded view. Please note, these estimates do not account for unexpected changes such as inflation, economic downturns, or policy shifts.
Data Source
Secondary Sources
This study draws on a wide range of secondary sources, including press releases, annual reports, non-profit organizations, industry associations, government agencies, and customs data. We also referred to reputable databases and directories such as Bloomberg, Wind Info, Hoovers, Factiva, Trading Economics, Statista, and others. Additional references include investor presentations, company filings (e.g., SEC), economic data, and documents from regulatory and industry bodies.
These sources were used to gather technical and market-focused insights, identify key players, analyze market segmentation and classification, and track major trends and developments across industries.
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Qualitative Analysis |
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Primary Sources
As part of our primary research, we interviewed a variety of stakeholders from both the supply and demand sides to gather valuable qualitative and quantitative insights.
On the supply side, we spoke with product manufacturers, competitors, industry experts, research institutions, distributors, traders, and raw material suppliers. On the demand side, we engaged with business leaders, marketing and sales heads, technology and innovation directors, supply chain executives, and end users across key organizations.
These conversations helped us better understand market segmentation, pricing, applications, leading players, supply chains, demand trends, industry outlook, and key market dynamics—including risks, opportunities, barriers, and strategic developments.
Key Data Information from Primary Sources
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Total Market |
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