Orphan Disease Biomarkers Market Size, Share, and Trends 2025 to 2034

The orphan disease biomarkers market is driven by advances in genomics, proteomics, and bioinformatics. These tools identify and validate biomarkers to support rare disease drug development. The market sizing and forecasts are revenue-based (USD Million/Billion), with 2024 as the base year.

Last Updated : September 2025  |  Report Code : 6756  |  Category : Healthcare  |  Format : PDF / PPT / Excel

Chapter 1. Introduction

1.1. Research Objective

1.2. Scope of the Study

1.3. Definition

Chapter 2. Research Methodology 

2.1. Research Approach

2.2. Data Sources

2.3. Assumptions & Limitations

Chapter 3. Executive Summary

3.1. Market Snapshot

Chapter 4. Market Variables and Scope 

4.1. Introduction

4.2. Market Classification and Scope

4.3. Industry Value Chain Analysis

4.3.1. Raw Material Procurement Analysis 

4.3.2. Sales and Distribution Channel Analysis

4.3.3. Downstream Buyer Analysis

Chapter 5. COVID 19 Impact on Orphan Disease Biomarkers Market 

5.1. COVID-19 Landscape: Orphan Disease Biomarkers Industry Impact

5.2. COVID 19 - Impact Assessment for the Industry

5.3. COVID 19 Impact: Global Major Government Policy

5.4. Market Trends and Opportunities in the COVID-19 Landscape

6.1. Market Dynamics

6.1.1. Market Drivers

6.1.2. Market Restraints

6.1.3. Market Opportunities

6.2. Porter’s Five Forces Analysis

6.2.1. Bargaining power of suppliers

6.2.2. Bargaining power of buyers

6.2.3. Threat of substitute

6.2.4. Threat of new entrants

6.2.5. Degree of competition

Chapter 7. Competitive Landscape

7.1.1. Company Market Share/Positioning Analysis

7.1.2. Key Strategies Adopted by Players

7.1.3. Vendor Landscape

7.1.3.1. List of Suppliers

7.1.3.2. List of Buyers

Chapter 8. Global Orphan Disease Biomarkers Market, By Disease Type

8.1. Orphan Disease Biomarkers Market, by Disease Type

8.1.1. Genetic Disorders

8.1.1.1. Market Revenue and Forecast

8.1.2. Neurological Disorders

8.1.2.1. Market Revenue and Forecast

8.1.3. Metabolic Disorders

8.1.3.1. Market Revenue and Forecast

8.1.4. Rare Cancers

8.1.4.1. Market Revenue and Forecast

8.1.5. Autoimmune Diseases

8.1.5.1. Market Revenue and Forecast

8.1.6. Muscular Dystrophies

8.1.6.1. Market Revenue and Forecast

8.1.7. Hematological Disorders

8.1.7.1. Market Revenue and Forecast

Chapter 9. Global Orphan Disease Biomarkers Market, By Biomarker Type

9.1. Orphan Disease Biomarkers Market, by Biomarker Type

9.1.1. Genetic Biomarkers

9.1.1.1. Market Revenue and Forecast

9.1.2. Protein Biomarkers

9.1.2.1. Market Revenue and Forecast

9.1.3. Metabolic Biomarkers

9.1.3.1. Market Revenue and Forecast

9.1.4. Epigenetic Biomarkers

9.1.4.1. Market Revenue and Forecast

9.1.5. RNA Biomarkers

9.1.5.1. Market Revenue and Forecast

9.1.6. Autoantibody Biomarkers

9.1.6.1. Market Revenue and Forecast

9.1.7. Cell Surface Biomarkers

9.1.7.1. Market Revenue and Forecast

Chapter 10. Global Orphan Disease Biomarkers Market, By Application 

10.1. Orphan Disease Biomarkers Market, by Application

10.1.1. Diagnostics

10.1.1.1. Market Revenue and Forecast

10.1.2. Drug Discovery & Development

10.1.2.1. Market Revenue and Forecast

10.1.3. Personalized Medicine

10.1.3.1. Market Revenue and Forecast

10.1.4. Disease Monitoring & Prognosis

10.1.4.1. Market Revenue and Forecast

10.1.5. Clinical Trials

10.1.5.1. Market Revenue and Forecast

10.1.6. Companion Diagnostics

10.1.6.1. Market Revenue and Forecast

Chapter 11. Global Orphan Disease Biomarkers Market, By Technology

11.1. Orphan Disease Biomarkers Market, by Technology

11.1.1. PCR-based Technology

11.1.1.1. Market Revenue and Forecast

11.1.2. Microarray Technology

11.1.2.1. Market Revenue and Forecast

11.1.3. Mass Spectrometry Technology

11.1.3.1. Market Revenue and Forecast

11.1.4. Next-Generation Sequencing

11.1.4.1. Market Revenue and Forecast

11.1.5. Immunoassays

11.1.5.1. Market Revenue and Forecast

11.1.6. Flow Cytometry

11.1.6.1. Market Revenue and Forecast

11.1.7. ELISA-based Technology

11.1.7.1. Market Revenue and Forecast

Chapter 12. Global Orphan Disease Biomarkers Market, By End-User

12.1. Orphan Disease Biomarkers Market, by End-User

12.1.1. Hospitals & Diagnostic Laboratories

12.1.1.1. Market Revenue and Forecast

12.1.2. Pharmaceutical & Biotech Companies

12.1.2.1. Market Revenue and Forecast

12.1.3. Research & Academic Institutions

12.1.3.1. Market Revenue and Forecast

12.1.4. Contract Research Organizations (CROs)

12.1.4.1. Market Revenue and Forecast

Chapter 13. Global Orphan Disease Biomarkers Market, Regional Estimates and Trend Forecast

13.1. North America

13.1.1. Market Revenue and Forecast, by Disease Type

13.1.2. Market Revenue and Forecast, by Biomarker Type

13.1.3. Market Revenue and Forecast, by Application

13.1.4. Market Revenue and Forecast, by Technology

13.1.5. Market Revenue and Forecast, by End-User

13.1.6. U.S.

13.1.6.1. Market Revenue and Forecast, by Disease Type

13.1.6.2. Market Revenue and Forecast, by Biomarker Type

13.1.6.3. Market Revenue and Forecast, by Application

13.1.6.4. Market Revenue and Forecast, by Technology

13.1.6.5. Market Revenue and Forecast, by End-User  

13.1.7. Rest of North America

13.1.7.1. Market Revenue and Forecast, by Disease Type

13.1.7.2. Market Revenue and Forecast, by Biomarker Type

13.1.7.3. Market Revenue and Forecast, by Application

13.1.7.4. Market Revenue and Forecast, by Technology

13.1.7.5. Market Revenue and Forecast, by End-User

13.2. Europe

13.2.1. Market Revenue and Forecast, by Disease Type

13.2.2. Market Revenue and Forecast, by Biomarker Type

13.2.3. Market Revenue and Forecast, by Application

13.2.4. Market Revenue and Forecast, by Technology  

13.2.5. Market Revenue and Forecast, by End-User  

13.2.6. UK

13.2.6.1. Market Revenue and Forecast, by Disease Type

13.2.6.2. Market Revenue and Forecast, by Biomarker Type

13.2.6.3. Market Revenue and Forecast, by Application

13.2.7. Market Revenue and Forecast, by Technology  

13.2.8. Market Revenue and Forecast, by End-User  

13.2.9. Germany

13.2.9.1. Market Revenue and Forecast, by Disease Type

13.2.9.2. Market Revenue and Forecast, by Biomarker Type

13.2.9.3. Market Revenue and Forecast, by Application

13.2.10. Market Revenue and Forecast, by Technology

13.2.11. Market Revenue and Forecast, by End-User

13.2.12. France

13.2.12.1. Market Revenue and Forecast, by Disease Type

13.2.12.2. Market Revenue and Forecast, by Biomarker Type

13.2.12.3. Market Revenue and Forecast, by Application

13.2.12.4. Market Revenue and Forecast, by Technology

13.2.13. Market Revenue and Forecast, by End-User

13.2.14. Rest of Europe

13.2.14.1. Market Revenue and Forecast, by Disease Type

13.2.14.2. Market Revenue and Forecast, by Biomarker Type

13.2.14.3. Market Revenue and Forecast, by Application

13.2.14.4. Market Revenue and Forecast, by Technology

13.2.15. Market Revenue and Forecast, by End-User

13.3. APAC

13.3.1. Market Revenue and Forecast, by Disease Type

13.3.2. Market Revenue and Forecast, by Biomarker Type

13.3.3. Market Revenue and Forecast, by Application

13.3.4. Market Revenue and Forecast, by Technology

13.3.5. Market Revenue and Forecast, by End-User

13.3.6. India

13.3.6.1. Market Revenue and Forecast, by Disease Type

13.3.6.2. Market Revenue and Forecast, by Biomarker Type

13.3.6.3. Market Revenue and Forecast, by Application

13.3.6.4. Market Revenue and Forecast, by Technology

13.3.7. Market Revenue and Forecast, by End-User

13.3.8. China

13.3.8.1. Market Revenue and Forecast, by Disease Type

13.3.8.2. Market Revenue and Forecast, by Biomarker Type

13.3.8.3. Market Revenue and Forecast, by Application

13.3.8.4. Market Revenue and Forecast, by Technology

13.3.9. Market Revenue and Forecast, by End-User

13.3.10. Japan

13.3.10.1. Market Revenue and Forecast, by Disease Type

13.3.10.2. Market Revenue and Forecast, by Biomarker Type

13.3.10.3. Market Revenue and Forecast, by Application

13.3.10.4. Market Revenue and Forecast, by Technology

13.3.10.5. Market Revenue and Forecast, by End-User

13.3.11. Rest of APAC

13.3.11.1. Market Revenue and Forecast, by Disease Type

13.3.11.2. Market Revenue and Forecast, by Biomarker Type

13.3.11.3. Market Revenue and Forecast, by Application

13.3.11.4. Market Revenue and Forecast, by Technology

13.3.11.5. Market Revenue and Forecast, by End-User

13.4. MEA

13.4.1. Market Revenue and Forecast, by Disease Type

13.4.2. Market Revenue and Forecast, by Biomarker Type

13.4.3. Market Revenue and Forecast, by Application

13.4.4. Market Revenue and Forecast, by Technology

13.4.5. Market Revenue and Forecast, by End-User

13.4.6. GCC

13.4.6.1. Market Revenue and Forecast, by Disease Type

13.4.6.2. Market Revenue and Forecast, by Biomarker Type

13.4.6.3. Market Revenue and Forecast, by Application

13.4.6.4. Market Revenue and Forecast, by Technology

13.4.7. Market Revenue and Forecast, by End-User

13.4.8. North Africa

13.4.8.1. Market Revenue and Forecast, by Disease Type

13.4.8.2. Market Revenue and Forecast, by Biomarker Type

13.4.8.3. Market Revenue and Forecast, by Application

13.4.8.4. Market Revenue and Forecast, by Technology

13.4.9. Market Revenue and Forecast, by End-User

13.4.10. South Africa

13.4.10.1. Market Revenue and Forecast, by Disease Type

13.4.10.2. Market Revenue and Forecast, by Biomarker Type

13.4.10.3. Market Revenue and Forecast, by Application

13.4.10.4. Market Revenue and Forecast, by Technology

13.4.10.5. Market Revenue and Forecast, by End-User

13.4.11. Rest of MEA

13.4.11.1. Market Revenue and Forecast, by Disease Type

13.4.11.2. Market Revenue and Forecast, by Biomarker Type

13.4.11.3. Market Revenue and Forecast, by Application

13.4.11.4. Market Revenue and Forecast, by Technology

13.4.11.5. Market Revenue and Forecast, by End-User

13.5. Latin America

13.5.1. Market Revenue and Forecast, by Disease Type

13.5.2. Market Revenue and Forecast, by Biomarker Type

13.5.3. Market Revenue and Forecast, by Application

13.5.4. Market Revenue and Forecast, by Technology

13.5.5. Market Revenue and Forecast, by End-User

13.5.6. Brazil

13.5.6.1. Market Revenue and Forecast, by Disease Type

13.5.6.2. Market Revenue and Forecast, by Biomarker Type

13.5.6.3. Market Revenue and Forecast, by Application

13.5.6.4. Market Revenue and Forecast, by Technology

13.5.7. Market Revenue and Forecast, by End-User

13.5.8. Rest of LATAM

13.5.8.1. Market Revenue and Forecast, by Disease Type

13.5.8.2. Market Revenue and Forecast, by Biomarker Type

13.5.8.3. Market Revenue and Forecast, by Application

13.5.8.4. Market Revenue and Forecast, by Technology

13.5.8.5. Market Revenue and Forecast, by End-User

Chapter 14. Company Profiles

14.1. Roche

14.1.1. Company Overview

14.1.2. Product Offerings

14.1.3. Financial Performance

14.1.4. Recent Initiatives

14.2. Thermo Fisher Scientific

14.2.1. Company Overview

14.2.2. Product Offerings

14.2.3. Financial Performance

14.2.4. Recent Initiatives

14.3. Abbott Laboratories

14.3.1. Company Overview

14.3.2. Product Offerings

14.3.3. Financial Performance

14.3.4. Recent Initiatives

14.4. QIAGEN

14.4.1. Company Overview

14.4.2. Product Offerings

14.4.3. Financial Performance

14.4.4. Recent Initiatives

14.5. Bio-Rad Laboratories

14.5.1. Company Overview

14.5.2. Product Offerings

14.5.3. Financial Performance

14.5.4. Recent Initiatives

14.6. PerkinElmer

14.6.1. Company Overview

14.6.2. Product Offerings

14.6.3. Financial Performance

14.6.4. Recent Initiatives

14.7. Illumina

14.7.1. Company Overview

14.7.2. Product Offerings

14.7.3. Financial Performance

14.7.4. Recent Initiatives

14.8. Agilent Technologies

14.8.1. Company Overview

14.8.2. Product Offerings

14.8.3. Financial Performance

14.8.4. Recent Initiatives

14.9. Merck KGaA

14.9.1. Company Overview

14.9.2. Product Offerings

14.9.3. Financial Performance

14.9.4. Recent Initiatives

14.10. Siemens Healthineers

14.10.1. Company Overview

14.10.2. Product Offerings

14.10.3. Financial Performance

14.10.4. Recent Initiatives

Chapter 15. Research Methodology

15.1. Primary Research

15.2. Secondary Research

15.3. Assumptions

Chapter 16. Appendix

16.1. About Us

16.2. Glossary of Terms

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Frequently Asked Questions

The major players in the orphan disease biomarkers market include Roche, Thermo Fisher Scientific, Abbott Laboratories, QIAGEN, Bio-Rad Laboratories, PerkinElmer, Illumina, Agilent Technologies, Merck KGaA, Siemens Healthineers, GE Healthcare, Danaher Corporation, Novartis, BioMérieux, Abbott Diagnostics, Medtronic, F. Hoffmann-La Roche AG, Labcorp Drug Development, Invitae Corporation, and Eurofins Scientific.

The driving factors of the orphan disease biomarkers market are the rising demand for early and precise diagnostic tools that support the development of targeted therapies for rare diseases.

North America region will lead the global orphan disease biomarkers market during the forecast period 2025 to 2034.

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