Rare Disease Diagnostics Market by Component (Consumable & Assay Kit, Diagnostic Instrument), Technology (Array Technology, Next Generation Sequencing, Sanger Sequencing), Disease Type, End-use - Global Forecast 2024-2030
The Rare Disease Diagnostics Market size was estimated at USD 2.68 billion in 2023 and expected to reach USD 3.12 billion in 2024, at a CAGR 17.36% to reach USD 8.23 billion by 2030.
Global Rare Disease Diagnostics Market
FPNV Positioning Matrix
The FPNV Positioning Matrix is pivotal in evaluating the Rare Disease Diagnostics Market. It offers a comprehensive assessment of vendors, examining key metrics related to Business Strategy and Product Satisfaction. This in-depth analysis empowers users to make well-informed decisions aligned with their requirements. Based on the evaluation, the vendors are then categorized into four distinct quadrants representing varying levels of success: Forefront (F), Pathfinder (P), Niche (N), or Vital (V).
Market Share Analysis
The Market Share Analysis is a comprehensive tool that provides an insightful and in-depth examination of the current state of vendors in the Rare Disease Diagnostics Market. By meticulously comparing and analyzing vendor contributions in terms of overall revenue, customer base, and other key metrics, we can offer companies a greater understanding of their performance and the challenges they face when competing for market share. Additionally, this analysis provides valuable insights into the competitive nature of the sector, including factors such as accumulation, fragmentation dominance, and amalgamation traits observed over the base year period studied. With this expanded level of detail, vendors can make more informed decisions and devise effective strategies to gain a competitive edge in the market.
Key Company Profiles
The report delves into recent significant developments in the Rare Disease Diagnostics Market, highlighting leading vendors and their innovative profiles. These include 23andMe Inc., 3billion, Inc., Agilent Technologies Inc., ARCHIMED Life Science GmbH, ARUP Laboratories, AstraZeneca PLC, Azenta Life Sciences, Baylor Genetics, Caris Life Sciences, CENTOGENE N.V., Eurofins Scientific Inc., F. Hoffmann-La Roche Ltd., Fulgent Genetics, Inc., Illumina, Inc., In-Depth Genomics, Invitae Corporation, Laboratory Corporation of America Holdings, MedGenome Labs Ltd, OPKO Health, Inc., PerkinElmer Inc., Progenity, Inc., Quest Diagnostics Incorporated, Sanofi S.A., Thermo Fisher Scientific Inc., and Travere Therapeutics Inc..
Market Segmentation & Coverage
This research report categorizes the Rare Disease Diagnostics Market to forecast the revenues and analyze trends in each of the following sub-markets:
Component
Consumable & Assay Kit
Diagnostic Instrument
Technology
Array Technology
Next Generation Sequencing
Sanger Sequencing
Disease Type
Cancer
Cardiovascular Disorders
Dermatology Disease
Endocrine & Metabolism Diseases
Hematology Diseases
Immunological Disorders
Musculoskeletal Disorders
Neurological Disorders
End-use
Diagnostic Laboratories
Hospitals & Clinics
Research Laboratories & CROs
Region
Americas
Argentina
Brazil
Canada
Mexico
United States
California
Florida
Illinois
New York
Ohio
Pennsylvania
Texas
Asia-Pacific
Australia
China
India
Indonesia
Japan
Malaysia
Philippines
Singapore
South Korea
Taiwan
Thailand
Vietnam
Europe, Middle East & Africa
Denmark
Egypt
Finland
France
Germany
Israel
Italy
Netherlands
Nigeria
Norway
Poland
Qatar
Russia
Saudi Arabia
South Africa
Spain
Sweden
Switzerland
Turkey
United Arab Emirates
United Kingdom
The report offers valuable insights on the following aspects:
1. Market Penetration: It presents comprehensive information on the market provided by key players.
2. Market Development: It delves deep into lucrative emerging markets and analyzes the penetration across mature market segments.
3. Market Diversification: It provides detailed information on new product launches, untapped geographic regions, recent developments, and investments.
4. Competitive Assessment & Intelligence: It conducts an exhaustive assessment of market shares, strategies, products, certifications, regulatory approvals, patent landscape, and manufacturing capabilities of the leading players.
5. Product Development & Innovation: It offers intelligent insights on future technologies, R&D activities, and breakthrough product developments.
The report addresses key questions such as:
1. What is the market size and forecast of the Rare Disease Diagnostics Market?
2. Which products, segments, applications, and areas should one consider investing in over the forecast period in the Rare Disease Diagnostics Market?
3. What are the technology trends and regulatory frameworks in the Rare Disease Diagnostics Market?
4. What is the market share of the leading vendors in the Rare Disease Diagnostics Market?
5. Which modes and strategic moves are suitable for entering the Rare Disease Diagnostics Market?
Note: PDF & Excel + Online Access - 1 Year
- 1. Preface
- 1.1. Objectives of the Study
- 1.2. Market Segmentation & Coverage
- 1.3. Years Considered for the Study
- 1.4. Currency & Pricing
- 1.5. Language
- 1.6. Limitations
- 1.7. Assumptions
- 1.8. Stakeholders
- 2. Research Methodology
- 2.1. Define: Research Objective
- 2.2. Determine: Research Design
- 2.3. Prepare: Research Instrument
- 2.4. Collect: Data Source
- 2.5. Analyze: Data Interpretation
- 2.6. Formulate: Data Verification
- 2.7. Publish: Research Report
- 2.8. Repeat: Report Update
- 3. Executive Summary
- 4. Market Overview
- 4.1. Introduction
- 4.2. Rare Disease Diagnostics Market, by Region
- 5. Market Insights
- 5.1. Market Dynamics
- 5.1.1. Drivers
- 5.1.1.1. Growing prevalence of rare genetic diseases and the need for early & rapid diagnosis
- 5.1.1.2. Rising use in translational & genomic research for the identification of novel mutations
- 5.1.1.3. Government initiatives for diagnosis and treatment of rare diseases
- 5.1.2. Restraints
- 5.1.2.1. Stringent regulations associated with the approval process of new rare diseases genetic test
- 5.1.3. Opportunities
- 5.1.3.1. Advancements in genetic technology to Identify new rare disease genes
- 5.1.3.2. Favorable investments for diagnosis of rare genetic diseases
- 5.1.4. Challenges
- 5.1.4.1. Ethical concerns and access to limited information on rare disease
- 5.2. Market Segmentation Analysis
- 5.3. Market Trend Analysis
- 5.4. Cumulative Impact of High Inflation
- 5.5. Porter’s Five Forces Analysis
- 5.5.1. Threat of New Entrants
- 5.5.2. Threat of Substitutes
- 5.5.3. Bargaining Power of Customers
- 5.5.4. Bargaining Power of Suppliers
- 5.5.5. Industry Rivalry
- 5.6. Value Chain & Critical Path Analysis
- 5.7. Regulatory Framework
- 6. Rare Disease Diagnostics Market, by Component
- 6.1. Introduction
- 6.2. Consumable & Assay Kit
- 6.3. Diagnostic Instrument
- 7. Rare Disease Diagnostics Market, by Technology
- 7.1. Introduction
- 7.2. Array Technology
- 7.3. Next Generation Sequencing
- 7.4. Sanger Sequencing
- 8. Rare Disease Diagnostics Market, by Disease Type
- 8.1. Introduction
- 8.2. Cancer
- 8.3. Cardiovascular Disorders
- 8.4. Dermatology Disease
- 8.5. Endocrine & Metabolism Diseases
- 8.6. Hematology Diseases
- 8.7. Immunological Disorders
- 8.8. Musculoskeletal Disorders
- 8.9. Neurological Disorders
- 9. Rare Disease Diagnostics Market, by End-use
- 9.1. Introduction
- 9.2. Diagnostic Laboratories
- 9.3. Hospitals & Clinics
- 9.4. Research Laboratories & CROs
- 10. Americas Rare Disease Diagnostics Market
- 10.1. Introduction
- 10.2. Argentina
- 10.3. Brazil
- 10.4. Canada
- 10.5. Mexico
- 10.6. United States
- 11. Asia-Pacific Rare Disease Diagnostics Market
- 11.1. Introduction
- 11.2. Australia
- 11.3. China
- 11.4. India
- 11.5. Indonesia
- 11.6. Japan
- 11.7. Malaysia
- 11.8. Philippines
- 11.9. Singapore
- 11.10. South Korea
- 11.11. Taiwan
- 11.12. Thailand
- 11.13. Vietnam
- 12. Europe, Middle East & Africa Rare Disease Diagnostics Market
- 12.1. Introduction
- 12.2. Denmark
- 12.3. Egypt
- 12.4. Finland
- 12.5. France
- 12.6. Germany
- 12.7. Israel
- 12.8. Italy
- 12.9. Netherlands
- 12.10. Nigeria
- 12.11. Norway
- 12.12. Poland
- 12.13. Qatar
- 12.14. Russia
- 12.15. Saudi Arabia
- 12.16. South Africa
- 12.17. Spain
- 12.18. Sweden
- 12.19. Switzerland
- 12.20. Turkey
- 12.21. United Arab Emirates
- 12.22. United Kingdom
- 13. Competitive Landscape
- 13.1. FPNV Positioning Matrix
- 13.2. Market Share Analysis, By Key Player
- 13.3. Competitive Scenario Analysis, By Key Player
- 14. Competitive Portfolio
- 14.1. Key Company Profiles
- 14.1.1. 23andMe Inc.
- 14.1.2. 3billion, Inc.
- 14.1.3. Agilent Technologies Inc.
- 14.1.4. ARCHIMED Life Science GmbH
- 14.1.5. ARUP Laboratories
- 14.1.6. AstraZeneca PLC
- 14.1.7. Azenta Life Sciences
- 14.1.8. Baylor Genetics
- 14.1.9. Caris Life Sciences
- 14.1.10. CENTOGENE N.V.
- 14.1.11. Eurofins Scientific Inc.
- 14.1.12. F. Hoffmann-La Roche Ltd.
- 14.1.13. Fulgent Genetics, Inc.
- 14.1.14. Illumina, Inc.
- 14.1.15. In-Depth Genomics
- 14.1.16. Invitae Corporation
- 14.1.17. Laboratory Corporation of America Holdings
- 14.1.18. MedGenome Labs Ltd
- 14.1.19. OPKO Health, Inc.
- 14.1.20. PerkinElmer Inc.
- 14.1.21. Progenity, Inc.
- 14.1.22. Quest Diagnostics Incorporated
- 14.1.23. Sanofi S.A.
- 14.1.24. Thermo Fisher Scientific Inc.
- 14.1.25. Travere Therapeutics Inc.
- 14.2. Key Product Portfolio
- 15. Appendix
- 15.1. Discussion Guide
- 15.2. License & Pricing
- FIGURE 1. RARE DISEASE DIAGNOSTICS MARKET RESEARCH PROCESS
- FIGURE 2. RARE DISEASE DIAGNOSTICS MARKET SIZE, 2023 VS 2030
- FIGURE 3. RARE DISEASE DIAGNOSTICS MARKET SIZE, 2018-2030 (USD MILLION)
- FIGURE 4. RARE DISEASE DIAGNOSTICS MARKET SIZE, BY REGION, 2023 VS 2030 (%)
- FIGURE 5. RARE DISEASE DIAGNOSTICS MARKET SIZE, BY REGION, 2023 VS 2024 VS 2030 (USD MILLION)
- FIGURE 6. RARE DISEASE DIAGNOSTICS MARKET DYNAMICS
- FIGURE 7. RARE DISEASE DIAGNOSTICS MARKET SIZE, BY COMPONENT, 2023 VS 2030 (%)
- FIGURE 8. RARE DISEASE DIAGNOSTICS MARKET SIZE, BY COMPONENT, 2023 VS 2024 VS 2030 (USD MILLION)
- FIGURE 9. RARE DISEASE DIAGNOSTICS MARKET SIZE, BY TECHNOLOGY, 2023 VS 2030 (%)
- FIGURE 10. RARE DISEASE DIAGNOSTICS MARKET SIZE, BY TECHNOLOGY, 2023 VS 2024 VS 2030 (USD MILLION)
- FIGURE 11. RARE DISEASE DIAGNOSTICS MARKET SIZE, BY DISEASE TYPE, 2023 VS 2030 (%)
- FIGURE 12. RARE DISEASE DIAGNOSTICS MARKET SIZE, BY DISEASE TYPE, 2023 VS 2024 VS 2030 (USD MILLION)
- FIGURE 13. RARE DISEASE DIAGNOSTICS MARKET SIZE, BY END-USE, 2023 VS 2030 (%)
- FIGURE 14. RARE DISEASE DIAGNOSTICS MARKET SIZE, BY END-USE, 2023 VS 2024 VS 2030 (USD MILLION)
- FIGURE 15. AMERICAS RARE DISEASE DIAGNOSTICS MARKET SIZE, BY COUNTRY, 2023 VS 2030 (%)
- FIGURE 16. AMERICAS RARE DISEASE DIAGNOSTICS MARKET SIZE, BY COUNTRY, 2023 VS 2024 VS 2030 (USD MILLION)
- FIGURE 17. UNITED STATES RARE DISEASE DIAGNOSTICS MARKET SIZE, BY STATE, 2023 VS 2030 (%)
- FIGURE 18. UNITED STATES RARE DISEASE DIAGNOSTICS MARKET SIZE, BY STATE, 2023 VS 2024 VS 2030 (USD MILLION)
- FIGURE 19. ASIA-PACIFIC RARE DISEASE DIAGNOSTICS MARKET SIZE, BY COUNTRY, 2023 VS 2030 (%)
- FIGURE 20. ASIA-PACIFIC RARE DISEASE DIAGNOSTICS MARKET SIZE, BY COUNTRY, 2023 VS 2024 VS 2030 (USD MILLION)
- FIGURE 21. EUROPE, MIDDLE EAST & AFRICA RARE DISEASE DIAGNOSTICS MARKET SIZE, BY COUNTRY, 2023 VS 2030 (%)
- FIGURE 22. EUROPE, MIDDLE EAST & AFRICA RARE DISEASE DIAGNOSTICS MARKET SIZE, BY COUNTRY, 2023 VS 2024 VS 2030 (USD MILLION)
- FIGURE 23. RARE DISEASE DIAGNOSTICS MARKET, FPNV POSITIONING MATRIX, 2023
- FIGURE 24. RARE DISEASE DIAGNOSTICS MARKET SHARE, BY KEY PLAYER, 2023
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