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Rare Disease Diagnostics Global Market Report 2025

Publisher The Business Research Company
Published Feb 28, 2025
Length 200 Pages
SKU # BRC19655222

Description

Rare Disease Diagnostics Global Market Report 2025 from The Business Research Company provides strategists, marketers and senior management with the critical information they need to assess the market.

This report focuses on rare disease diagnostics market which is experiencing strong growth. The report gives a guide to the trends which will be shaping the market over the next ten years and beyond.

Reasons to Purchase
  • Gain a truly global perspective with the most comprehensive report available on this market covering 15 geographies.
  • Assess the impact of key macro factors such as conflict, pandemic and recovery, inflation and interest rate environment and the 2nd Trump presidency.
  • Create regional and country strategies on the basis of local data and analysis.
  • Identify growth segments for investment.
  • Outperform competitors using forecast data and the drivers and trends shaping the market.
  • Understand customers based on the latest market shares.
  • Benchmark performance against key competitors.
  • Suitable for supporting your internal and external presentations with reliable high quality data and analysis
  • Report will be updated with the latest data and delivered to you within 2-3 working days of order along with an Excel data sheet for easy data extraction and analysis.
  • All data from the report will also be delivered in an excel dashboard format.
Description:

Where is the largest and fastest growing market for rare disease diagnostics ? How does the market relate to the overall economy, demography and other similar markets? What forces will shape the market going forward? The rare disease diagnostics market global report from the Business Research Company answers all these questions and many more.

The report covers market characteristics, size and growth, segmentation, regional and country breakdowns, competitive landscape, market shares, trends and strategies for this market. It traces the market’s historic and forecast market growth by geography.
  • The market characteristics section of the report defines and explains the market.
  • The market size section gives the market size ($b) covering both the historic growth of the market, and forecasting its development.
  • The forecasts are made after considering the major factors currently impacting the market. These include:
  • The forecasts are made after considering the major factors currently impacting the market. These include the Russia-Ukraine war, rising inflation, higher interest rates, and the legacy of the COVID-19 pandemic.
  • Market segmentations break down the market into sub markets.
  • The regional and country breakdowns section gives an analysis of the market in each geography and the size of the market by geography and compares their historic and forecast growth. It covers the growth trajectory of COVID-19 for all regions, key developed countries and major emerging markets.
  • The competitive landscape chapter gives a description of the competitive nature of the market, market shares, and a description of the leading companies. Key financial deals which have shaped the market in recent years are identified.
  • The trends and strategies section analyses the shape of the market as it emerges from the crisis and suggests how companies can grow as the market recovers.
Scope

Markets Covered:1) By Test Type: Genetic Test; General Lab Test; Imaging Test

2) By Technology: Capillary Sequencing; Whole Genome Sequencing; Whole Exome Sequencing; Microarrays

3) By Sample Type: Deoxyribonucleic Acid (DNA) Sample; Buccal Swab Sample; Blood; Saliva

4) By Disease Type: Gastroenterology Disease; Endocrine And Metabolism Disorders Disease; Hematology And Oncology Disease; Dermatology Disease; Cardiovascular Disorders; Neurology Disease

5) By End User: Hospital Laboratories; Diagnostics Laboratories; Genetic Testing Laboratories; Cancer Research Laboratories

Subsegments:

1) By Genetic Test: Whole Genome Sequencing; Targeted Gene Panels; Exome Sequencing; Carrier Testing

2) By General Lab Test: Blood Tests; Biochemical Assays; Urine Tests; Cytogenetic Tests

3) By Imaging Test: MRI (Magnetic Resonance Imaging); CT (Computed Tomography) Scans; Ultrasound; X-Rays

Companies Mentioned: Thermo Fisher Scientific Inc.; Roche Diagnostics; Laboratory Corporation of America Holdings; Quest Diagnostics Incorporated; Astellas Pharma Inc.

Countries: Australia; Brazil; China; France; Germany; India; Indonesia; Japan; Russia; South Korea; UK; USA; Canada; Italy; Spain

Regions: Asia-Pacific; Western Europe; Eastern Europe; North America; South America; Middle East; Africa

Time series: Five years historic and ten years forecast.

Data: Ratios of market size and growth to related markets, GDP proportions, expenditure per capita,

Data segmentations: country and regional historic and forecast data, market share of competitors, market segments.

Sourcing and Referencing: Data and analysis throughout the report is sourced using end notes.

Delivery format: PDF, Word and Excel Data Dashboard.

Please Note: Report will be updated with the latest data and delivered to you within 3-5 working days of order.

Table of Contents

200 Pages
1. Executive Summary
2. Rare Disease Diagnostics Market Characteristics
3. Rare Disease Diagnostics Market Trends And Strategies
4. Rare Disease Diagnostics Market - Macro Economic Scenario including the impact of Interest Rates, Inflation, Geopolitics and Covid And Recovery on the Market
5. Global Rare Disease Diagnostics Growth Analysis And Strategic Analysis Framework
5.1. Global Rare Disease Diagnostics PESTEL Analysis (Political, Social, Technological, Environmental and Legal Factors, Drivers and Restraints)
5.2. Analysis Of End Use Industries
5.3. Global Rare Disease Diagnostics Market Growth Rate Analysis
5.4. Global Rare Disease Diagnostics Historic Market Size and Growth, 2019 - 2024, Value ($ Billion)
5.5. Global Rare Disease Diagnostics Forecast Market Size and Growth, 2024 - 2029, 2034F, Value ($ Billion)
5.6. Global Rare Disease Diagnostics Total Addressable Market (TAM)
6. Rare Disease Diagnostics Market Segmentation
6.1. Global Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
Genetic Test
General Lab Test
Imaging Test
6.2. Global Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
Capillary Sequencing
Whole Genome Sequencing
Whole Exome Sequencing
Microarrays
6.3. Global Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
Deoxyribonucleic Acid (DNA) Sample
Buccal Swab Sample
Blood
Saliva
6.4. Global Rare Disease Diagnostics Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
Gastroenterology Disease
Endocrine And Metabolism Disorders Disease
Hematology And Oncology Disease
Dermatology Disease
Cardiovascular Disorders
Neurology Disease
6.5. Global Rare Disease Diagnostics Market, Segmentation By End User, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
Hospital Laboratories
Diagnostics Laboratories
Genetic Testing Laboratories
Cancer Research Laboratories
6.6. Global Rare Disease Diagnostics Market, Sub-Segmentation Of Genetic Test, By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
Whole Genome Sequencing
Targeted Gene Panels
Exome Sequencing
Carrier Testing
6.7. Global Rare Disease Diagnostics Market, Sub-Segmentation Of General Lab Test, By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
Blood Tests
Biochemical Assays
Urine Tests
Cytogenetic Tests
6.8. Global Rare Disease Diagnostics Market, Sub-Segmentation Of Imaging Test, By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
MRI (Magnetic Resonance Imaging)
CT (Computed Tomography) Scans
Ultrasound
X-Rays
7. Rare Disease Diagnostics Market Regional And Country Analysis
7.1. Global Rare Disease Diagnostics Market, Split By Region, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
7.2. Global Rare Disease Diagnostics Market, Split By Country, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
8. Asia-Pacific Rare Disease Diagnostics Market
8.1. Asia-Pacific Rare Disease Diagnostics Market Overview
Region Information, Market Information, Background Information, Government Initiatives, Regulations, Regulatory Bodies, Major Associations, Taxes Levied, Corporate Tax Structure, Investments, Major Companies
8.2. Asia-Pacific Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
8.3. Asia-Pacific Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
8.4. Asia-Pacific Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
9. China Rare Disease Diagnostics Market
9.1. China Rare Disease Diagnostics Market Overview
9.2. China Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F,$ Billion
9.3. China Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F,$ Billion
9.4. China Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F,$ Billion
10. India Rare Disease Diagnostics Market
10.1. India Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
10.2. India Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
10.3. India Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
11. Japan Rare Disease Diagnostics Market
11.1. Japan Rare Disease Diagnostics Market Overview
11.2. Japan Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
11.3. Japan Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
11.4. Japan Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
12. Australia Rare Disease Diagnostics Market
12.1. Australia Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
12.2. Australia Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
12.3. Australia Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
13. Indonesia Rare Disease Diagnostics Market
13.1. Indonesia Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
13.2. Indonesia Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
13.3. Indonesia Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
14. South Korea Rare Disease Diagnostics Market
14.1. South Korea Rare Disease Diagnostics Market Overview
14.2. South Korea Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
14.3. South Korea Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
14.4. South Korea Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
15. Western Europe Rare Disease Diagnostics Market
15.1. Western Europe Rare Disease Diagnostics Market Overview
15.2. Western Europe Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
15.3. Western Europe Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
15.4. Western Europe Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
16. UK Rare Disease Diagnostics Market
16.1. UK Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
16.2. UK Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
16.3. UK Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
17. Germany Rare Disease Diagnostics Market
17.1. Germany Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
17.2. Germany Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
17.3. Germany Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
18. France Rare Disease Diagnostics Market
18.1. France Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
18.2. France Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
18.3. France Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
19. Italy Rare Disease Diagnostics Market
19.1. Italy Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
19.2. Italy Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
19.3. Italy Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
20. Spain Rare Disease Diagnostics Market
20.1. Spain Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
20.2. Spain Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
20.3. Spain Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
21. Eastern Europe Rare Disease Diagnostics Market
21.1. Eastern Europe Rare Disease Diagnostics Market Overview
21.2. Eastern Europe Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
21.3. Eastern Europe Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
21.4. Eastern Europe Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
22. Russia Rare Disease Diagnostics Market
22.1. Russia Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
22.2. Russia Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
22.3. Russia Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
23. North America Rare Disease Diagnostics Market
23.1. North America Rare Disease Diagnostics Market Overview
23.2. North America Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
23.3. North America Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
23.4. North America Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
24. USA Rare Disease Diagnostics Market
24.1. USA Rare Disease Diagnostics Market Overview
24.2. USA Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
24.3. USA Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
24.4. USA Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
25. Canada Rare Disease Diagnostics Market
25.1. Canada Rare Disease Diagnostics Market Overview
25.2. Canada Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
25.3. Canada Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
25.4. Canada Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
26. South America Rare Disease Diagnostics Market
26.1. South America Rare Disease Diagnostics Market Overview
26.2. South America Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
26.3. South America Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
26.4. South America Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
27. Brazil Rare Disease Diagnostics Market
27.1. Brazil Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
27.2. Brazil Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
27.3. Brazil Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
28. Middle East Rare Disease Diagnostics Market
28.1. Middle East Rare Disease Diagnostics Market Overview
28.2. Middle East Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
28.3. Middle East Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
28.4. Middle East Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
29. Africa Rare Disease Diagnostics Market
29.1. Africa Rare Disease Diagnostics Market Overview
29.2. Africa Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
29.3. Africa Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
29.4. Africa Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
30. Rare Disease Diagnostics Market Competitive Landscape And Company Profiles
30.1. Rare Disease Diagnostics Market Competitive Landscape
30.2. Rare Disease Diagnostics Market Company Profiles
30.2.1. Thermo Fisher Scientific Inc. Overview, Products and Services, Strategy and Financial Analysis
30.2.2. Roche Diagnostics Overview, Products and Services, Strategy and Financial Analysis
30.2.3. Laboratory Corporation of America Holdings Overview, Products and Services, Strategy and Financial Analysis
30.2.4. Quest Diagnostics Incorporated Overview, Products and Services, Strategy and Financial Analysis
30.2.5. Astellas Pharma Inc. Overview, Products and Services, Strategy and Financial Analysis
31. Rare Disease Diagnostics Market Other Major And Innovative Companies
31.1. Eurofins Scientific SE
31.2. Agilent Technologies Inc.
31.3. PerkinElmer Inc.
31.4. Sanofi Genzyme
31.5. Illumina Inc.
31.6. Bio-Rad Laboratories Inc.
31.7. Qiagen NV
31.8. BioMarin Pharmaceutical Inc.
31.9. OPKO Health Inc.
31.10. Sarepta Therapeutics Inc.
31.11. Natera Inc.
31.12. Invitae Corporation
31.13. Ultragenyx Pharmaceutical Inc.
31.14. Travere Therapeutics Inc.
31.15. BGI Genomics Co. Ltd.
32. Global Rare Disease Diagnostics Market Competitive Benchmarking And Dashboard
33. Key Mergers And Acquisitions In The Rare Disease Diagnostics Market
34. Recent Developments In The Rare Disease Diagnostics Market
35. Rare Disease Diagnostics Market High Potential Countries, Segments and Strategies
35.1 Rare Disease Diagnostics Market In 2029 - Countries Offering Most New Opportunities
35.2 Rare Disease Diagnostics Market In 2029 - Segments Offering Most New Opportunities
35.3 Rare Disease Diagnostics Market In 2029 - Growth Strategies
35.3.1 Market Trend Based Strategies
35.3.2 Competitor Strategies
36. Appendix
36.1. Abbreviations
36.2. Currencies
36.3. Historic And Forecast Inflation Rates
36.4. Research Inquiries
36.5. The Business Research Company
36.6. Copyright And Disclaimer

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