Rare Disease Diagnostics: Technologies and Global Markets

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.

Analyst Credentials

BCC Research Team possesses expertise and experience in life and physical science domains. They specialize in offering valuable business insights, including industry analysis, competitor intelligence, strategic and financial analysis, and opportunity assessment. The team has in-depth knowledge of various sectors, including healthcare, biotechnology, pharmaceuticals, IT, automation, advanced materials, and energy. They are proficient in qualitative and quantitative market intelligence providing clients with actionable insights. With a vast understanding of the competitive landscape, the team can support clients in making data-driven decisions to help them achieve a competitive edge in their respective markets.