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Report Highlights
The global market for rare disease diagnostics is estimated to increase from $21.6 billion in 2024 to reach $34.7 billion by 2029, at a compound annual growth rate (CAGR) of 9.9% from 2024 through 2029.
Report Includes
- 60 data tables and 70 additional tables
- An overview of the global market and technologies for rare disease diagnostics
- Analysis of the global market trends, with data from 2012-2023, estimates for 2024, forecasts for 2025, and projections of compound annual growth rates (CAGRs) through 2029
- Estimates of actual market size and revenue forecast for the rare disease diagnostics market, and a corresponding market share analysis based on analysis platform, target type, disease category, test purpose, and region
- A look at the global rare disease diagnostics market structure and technological innovations of the industry
- Coverage of the factors impacting market growth, trends and opportunities in major regions
- Discussion about rare disease therapies and how they influence the use of rare disease diagnostics, and details about Orphan Drug Act and other initiatives for rare diseases
- Information on the key industries associated with developing and marketing rare disease diagnostics, including the DNA sequencing industry, PCR industry, and laboratory services industry
- A look at the advancements in genomic technologies and analytical tools, and insights into stringent regulatory landscape and ethical and legal concerns
- Assessment of mergers and acquisitions, joint ventures, partnerships, and other market strategies
- A discussion of ESG challenges and practices in the industry
- Company profiles of major players within the industry, including Laboratory Corp. of America Holdings, Quest Diagnostics Inc., Illumina Inc., BGI, and Revvity
Report Scope
The goal of this report is to provide a comprehensive study of the global market for rare disease diagnostic clinical testing, both in terms of quantitative and qualitative data, to help readers develop business and growth strategies, assess the market landscape, analyze their positions in the current marketplace, and make informed business decisions regarding rare disease diagnostic products and services. The scope of this report includes molecular genetics, cytogenetics and biochemical clinical testing techniques.
BCC Research estimated market data for 2023 (the base year) and forecasts values for 2024 through 2029. Segmentation is based on the analysis platform, analysis target, disease class, test purpose, and region. Industry growth drivers, restraints, trends, and opportunities in the rare disease diagnostic market are discussed in detail. The report also provides information on the rare disease diagnostic market’s competitive landscape and emerging trends. It also discusses significant large-scale research initiatives that impact rare disease diagnostic applications. It is fascinating to discuss global population-scale sequencing projects and their likely impact in linking genetic variation to rare disease diagnostics.
The latest news regarding new tests, acquisitions and collaborations related to the rare disease diagnostics market are covered in sufficient detail.
Report Synopsis
| Report Metrics | Details | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Base year considered | 2023 | ||||||||||||
| Forecast period considered | 2024-2029 | ||||||||||||
| Base year market size | $19.7 billion | ||||||||||||
| Market size forecast | $34.7 billion | ||||||||||||
| Growth rate | CAGR of 9.9% for the forecast period of 2024-2029 | ||||||||||||
| Units considered | $ Millions | ||||||||||||
| Segments covered | Analysis Platform, Analysis Target, Disease Class, Test Purpose | ||||||||||||
| Regions covered | North America, Europe, Asia-Pacific, Rest of the World | ||||||||||||
| Countries covered | U.S., Canada, Mexico, Germany, U.K., France, Italy, Spain, Switzerland, Denmark, Norway, Poland, Belgium, Austria, Netherlands, Sweden, Luxembourg, Finland, Estonia, Russia, China, Japan, Australia, South Korea, India, Singapore, New Zealand, Taiwan, Singapore, Malaysia, Thailand, the Philippines, Indonesia, Brazil, Turkey, Argentina, Israel, U.A.E., South Africa, Egypt, Turkey, Iran, Iraq, Peru, Columbia | ||||||||||||
| Key Market Drivers |
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| Companies studied |
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Report Highlights
The global rare disease diagnostics market should reach $26.7 billion by 2024 from $17 billion in 2019 at a compound annual growth rate (CAGR) of 9.5% for the forecast period of 2019 to 2024.
Report Includes
- 53 tables
- An overview of the global markets and technologies for rare disease diagnostics and discussion on market opportunities for these technologies
- Analyses of global market trends with data from 2018, 2019 and projections of compound annual growth rates (CAGRs) through 2024
- Evaluation of current market size, market forecast and description of market driving forces
- Detailed market share analysis and quantification of rare disease diagnostics markets by disease class, indication, analysis platform, analysis target, test purpose and region
- Briefing about rare disease therapies and how they influence the use of rare disease diagnostics
- Details about Orphan Drug Act and other initiatives for rare diseases
- Coverage of the key industries associated with developing and marketing rare disease diagnostics, including the DNA sequencing industry, PCR industry, and laboratory services industry
- A look at the key industry acquisitions and strategic alliances and discussion on the key partnering trends
- Profiles of key companies in the rare disease diagnostics industry, including 10x Genomics Inc., Agilent Technologies Inc., Freenome Inc., GenapSys Inc., Illumina Inc., Myriad Genetics Inc. and PerkinElmer Inc.
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