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.
The rare cancers market for rare disease diagnostics is estimated to increase from $11.2 billion in 2024 to reach $18.2 billion by 2029, at a CAGR of 10.2% from 2024 through 2029.
The metabolic and endocrine disorders market for rare disease diagnostics is estimated to increase from $1.5 billion in 2024 to reach $2.4 billion by 2029, at a CAGR of 9.9% from 2024 through 2029.
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 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
Table of Contents
Chapter 1 Executive Summary
Market Outlook
Scope of Report
Market Summary
Chapter 2 Market Overview
Rare Diseases Overview
Diagnostic Odyssey
What Is Genomic Testing?
Rare Disease Clinical Assays Development and Marketing
Rare Disease Treatment
Bioinformatic Resources for Rare Disease Research and Genetic Information
Large-Scale Initiatives and Consortia
Population Sequencing Programs
Chapter 3 Market Dynamics
Market Dynamics
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)
Market Driving Forces and Their Impact on Market Growth
Market Restraints
Lack of Commercially Available IVDs for Rare Disease Diagnosis
Stringent Regulatory Landscape
Ethical and Legal Concerns
Shortage of Genetic and Rare Disease Specialists
Chapter 4 Emerging Technologies and Developments
Shift Towards a Multi-omics Approach
Artificial Intelligence (AI) and Machine Learning
Collaboration Between Rare Disease Diagnostics and Pharma Companies
Chapter 5 Market Segmentation Analysis
Segmentation Breakdown
Market Breakdown, by Analysis Platform
Next-Generation Sequencing (NGS)
Polymerase Chain Reaction (PCR)
Sanger Sequencing
Microarrays
Karyotyping and Fluorescent in Situ Hybridization (FISH)