Rare Disease Diagnostics: Technologies and Global Markets
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
Companies Mentioned
3BILLION INC.
AMBRY GENETICS
ARUP LABORATORIES
BGI
CENTOGENE N.V.
DANTE OMICS
ILLUMINA INC.
LABORATORY CORPORATION OF AMERICA HOLDINGS
LETSGETCHECKED INC. (PRIVAPATH DIAGNOSTICS INC.)
QUEST DIAGNOSTICS INC.
REVVITY
- 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)
- Biochemical Testing
- Market Breakdown, by Analysis Target Type
- Single Genes
- Multiple Genes
- Whole Exome
- Whole Genome
- Other Genomic Variants
- Protein and Other Biochemical Markers
- Market Breakdown by Disease Class
- Rare Cancers
- Neurological Diseases
- Metabolic and Endocrine Disorders
- Hematology
- Respiratory
- Immune System and Inflammation-Related Disorders
- Dermatology
- Musculoskeletal
- Others
- Market Breakdown, by Test Purpose
- Diagnosis
- Screening and Early Detection
- Therapy Guidance
- Monitoring
- Geographic Breakdown
- Market Breakdown, by Region
- North America
- Europe
- Asia-Pacific
- Rest of the World
- Chapter 6 Competitive Intelligence
- Overview
- Strategic Alliances and Developments
- Chapter 7 Appendix
- Methodology
- Sources
- Abbreviations
- Company Profiles
- 3BILLION INC.
- AMBRY GENETICS
- ARUP LABORATORIES
- BGI
- 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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