Rare Disease Diagnostics: Technologies and Global Markets

Report Code: PHM227B

Publish Date: Dec 2024

Publisher: BCC Publishing

Category: Pharmaceuticals

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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
  • Significant Unmet Need in Rare Disease Diagnostics
  • Orphan Drug Act
  • Advances In Gene Therapy
  • Rare Disease Initiatives
  • Advances in Genomic Technologies and Analytical Tools
  • Decreasing Cost of Next-Generation Sequencing (NGS)
Companies studied
3BILLION INC.AMBRY GENETICS
ARUP LABORATORIESBGI
CENTOGENE N.V.DANTE OMICS
ILLUMINA INC.LABORATORY CORPORATION OF AMERICA HOLDINGS
LETSGETCHECKED INC. (PRIVAPATH DIAGNOSTICS INC.)QUEST DIAGNOSTICS INC.
REVVITY
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Frequently Asked Questions (FAQs)

The global rare disease diagnostics market was estimated to be around $19.7 billion in 2023. The market is projected to reach $34.7 billion in 2029, growing at a CAGR of 9.9% during the forecast period.
An in-depth analysis of the global rare disease diagnostics market, including historical data and market projection on sales by analysis platform, analysis target, disease class, test purpose, and region.
By analysis platform type, next- generation sequencing (NGS) is anticipated to dominate the market by the end of 2029.
The whole genome sequencing (WGS) segment is the fastest growing market.

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.

Let us assist you! Our analysts are ready to tailor this report to your specific need. Talk to Our Analyst

Table of Contents

All reports provided in PDF format. For shared licensing options (5+ Users), please call a representative at (+1) 781-489-7301 or contact us at info@bccresearch.com
Title/Chapter NamePagesMember Price
Full Report: Rare Disease Diagnostics: Technologies and Global Markets131Free
Chapter- 1: Executive Summary4Free
Chapter- 2: Market Overview 12Free
Chapter- 3: Market Dynamics 11Free
Chapter- 4: Emerging Technologies and Developments 3Free
Chapter- 5: Market Segmentation Analysis66Free
Chapter- 6: Competitive Intelligence3Free
Chapter- 7: Appendix32Free
Published - Jul-2020| Analyst - John Bergin| Code - PHM227A

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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Rare Disease Diagnostics: Technologies and Global Markets
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