Europe Rare Disease Diagnostics Market Share, Size, Trends, Industry Analysis Report, By Disease Type, By Product Type, By Sample Type, By Technology, By Test, By Age Group, By Trait Type, By End-User, By Country; Segment Forecast, 2024 - 2032

Europe Rare Disease Diagnostics Market Share, Size, Trends, Industry Analysis Report, By Disease Type, By Product Type, By Sample Type, By Technology, By Test, By Age Group, By Trait Type, By End-User, By Country; Segment Forecast, 2024 - 2032



The Europe Rare Disease Diagnostics market size is expected to reach USD 22,767.23 Million by 2032, according to a new study by Polaris Market Research. The report “Europe Rare Disease Diagnostics Market Share, Size, Trends, Industry Analysis Report, By Disease Type, By Product Type, By Sample Type, By Technology, By Test, By Age Group, By Trait Type, By End-User, By Country; Segment Forecast, 2024 - 2032” gives a detailed insight into current market dynamics and provides analysis on future market growth.

The European market for Rare Disease Diagnostics has seen significant growth in recent years due to the increased availability of diagnosis, information, and patient care. This is achieved by consolidating limited resources across the EU, allowing for the exchange of expertise and information among healthcare professionals and patients. ERNs are networks that connect healthcare providers from all over Europe to facilitate discussions on complex and rare diseases that require specialized treatment. These networks collaborate to evaluate patients' diagnoses and treatment plans using virtual advisory panels made up of medical specialists from various disciplines. A dedicated IT platform enables this collaboration.

The increasing prevalence of AI and machine learning in healthcare and medicine is evident in the utilization of phenotype to develop diagnostic models using phenotypic similarity and machine learning algorithms. With the incorporation of various data sources such as electronic health records, hospital information systems, and health-related registries, a novel approach is necessary to develop AI-driven decision support tools that can assist clinicians in their diagnostic procedures and speed up the diagnosis process for patients with rare diseases.

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The research and innovation framework programs of the EU have provided extensive support for research in the area of rare diseases. The new research and innovation funding programs, Horizon Europe (2021-2027), will further enhance these efforts by continuing to support initiatives aimed at improving the quality of life for individuals affected by rare diseases. Through collaborative research and innovation programs involving various stakeholders, Horizon Europe will focus on developing diagnostics and treatments for rare diseases.

Europe Rare Disease Diagnostics Market Report Highlights

- The market is dominated by the Kits and Reagents segment owing to providing a streamlined process and reliable data quality testing to guarantee cost-effective diagnosis accessible to all.

- The Hematology and Oncology Disease segment dominated the market owing to rapid detection and technology-integrated faster detection tools available for diagnosis.

- Germany is currently at the forefront of the Rare Disease Diagnostics market in Europe, owing to its strong healthcare infrastructure, distinguished research institutions, and a commitment to innovation contributing to the advancement of diagnostic technologies

- The key market players include 3billion Inc., ARCHIMED Life Science GmbH, Centogene, Color Health Inc., Eurofins Scientific, Inc., Invitae Corporation, Macrogen Inc., Quest Diagnostics Incorporated, REALM IDx, Inc., Roche, etc.

Polaris Market Research has segmented the Europe Rare Disease Diagnostics market report based on disease type, product type, sample type, technology, test, age group, trait type, end-user and country:

Europe Rare Disease Diagnostics, Disease Type Outlook (Revenue - USD Million, 2019 - 2032)

- Gastroenterology Disease

- Endocrine and Metabolism Disorders Disease

- Cardiovascular Disorders

- Musculoskeletal Disorders

- Neurology Disease

- Hematology and Oncology Disease

- Dermatology Disease

- Others

Europe Rare Disease Diagnostics, Product Type Outlook (Revenue - USD Million, 2019 - 2032)

- Kits & Reagents

- Instruments

- Software

Europe Rare Disease Diagnostics, Sample Type Outlook (Revenue - USD Million, 2019 - 2032)

- Blood Sample

- Buccal Swab Sample

- Others

Europe Rare Disease Diagnostics, Technology Outlook (Revenue - USD Million, 2019 - 2032)

- NGS

Whole Exome

Whole Genome

- Array

- PCR Based Testing

- FISH

- Sanger Sequencing

- Karyotyping

Europe Rare Disease Diagnostics, Test Outlook (Revenue - USD Million, 2019 - 2032)

- Genetic Test

- Lab Test

- Imaging Test

Europe Rare Disease Diagnostics, Age Group Outlook (Revenue - USD Million, 2019 - 2032)

- Children

- Adult

Europe Rare Disease Diagnostics, Trait Type Outlook (Revenue - USD Million, 2019 - 2032)

- Inherited

- Acquired

Europe Rare Disease Diagnostics, End- Use Outlook (Revenue - USD Million, 2019 - 2032)

- Research Laboratories & Cros

- Hospitals & Clinics

- Diagnostic Laboratories

Europe Rare Disease Diagnostics, Country Outlook (Revenue - USD Million, 2019 - 2032)

- Germany

- UK

- France

- Italy

- Spain

- Russia

- Netherlands

- Rest of Europe


1. Introduction
1. Report Description
1. Objectives of the Study
2. Market Scope
3. Assumptions
2. Stakeholders
2. Executive Summary
1. Market Highlights
3. Research Methodology
1. Overview
1. Data Mining
2. Data Sources
1. Primary Sources
2. Secondary Sources
4. Europe Rare Disease Diagnostics Market Insights
1. Europe Rare Disease Diagnostics – Industry Snapshot
2. Europe Rare Disease Diagnostics Market Dynamics
1. Drivers and Opportunities
1. Rise in adoption of technologies
2. Personalized medicine and early diagnosis
2. Restraints and Challenges
1. Limited awareness
3. Porter’s Five Forces Analysis
1. Bargaining Power of Suppliers (Moderate)
2. Threats of New Entrants: (Low)
3. Bargaining Power of Buyers (Moderate)
4. Threat of Substitute (Moderate)
5. Rivalry among existing firms (High)
4. PESTEL Analysis
5. Europe Rare Disease Diagnostics Industry
6. Value Chain Analysis
7. COVID-19 Impact Analysis
5. Europe Rare Disease Diagnostics Market, by Disease Type
1. Key Findings
2. Introduction
1. Europe Rare Disease Diagnostics Market, by By Disease Type, 2019-2032 (USD Million)
3. Gastroenterology Disease
1. Europe Rare Disease Diagnostics Market, by Gastroenterology Disease, 2019-2032 (USD Million)
4. Endocrine and Metabolism Disorders Disease
1. Europe Rare Disease Diagnostics Market, by Endocrine and Metabolism Disorders Disease, 2019-2032 (USD Million)
5. Cardiovascular Disorders
1. Europe Rare Disease Diagnostics Market, by Cardiovascular Disorders, 2019-2032 (USD Million)
6. Musculoskeletal Disorders
1. Europe Rare Disease Diagnostics Market, by Musculoskeletal Disorders, 2019-2032 (USD Million)
7. Neurology Disease
1. Europe Rare Disease Diagnostics Market, by Neurology Disease, 2019-2032 (USD Million)
8. Hematology and Oncology Disease
1. Europe Rare Disease Diagnostics Market, by Hematology and Oncology Disease, 2019-2032 (USD Million)
9. Dermatology Disease
1. Europe Rare Disease Diagnostics Market, by Dermatology Disease, 2019-2032 (USD Million)
10. Others
1. Europe Rare Disease Diagnostics Market, by Others, 2019-2032 (USD Million)
6. Europe Rare Disease Diagnostics Market, by Mode of Product Type
1. Key Findings
2. Introduction
1. Europe Rare Disease Diagnostics Market, by Mode of Product Type, 2019-2032 (USD Million)
3. Kits & Reagents
1. Europe Rare Disease Diagnostics Market, by Kits & Reagents, 2019-2032 (USD Million)
4. Instruments
1. Europe Rare Disease Diagnostics Market, by Instruments, 2019-2032 (USD Million)
5. Software
1. Europe Rare Disease Diagnostics Market, by Software, 2019-2032 (USD Million)
7. Europe Rare Disease Diagnostics Market, by Sample Type
1. Key Findings
2. Introduction
1. Europe Rare Disease Diagnostics Market, by Sample Type, 2019-2032 (USD Million)
3. Blood Sample
1. Europe Rare Disease Diagnostics Market, by Blood Sample, 2019-2032 (USD Million)
4. Buccal Swab Sample
1. Europe Rare Disease Diagnostics Market, by Buccal Swab Sample, 2019-2032 (USD Million)
5. Others
1. Europe Rare Disease Diagnostics Market, by Others, 2019-2032 (USD Million)
8. Europe Rare Disease Diagnostics Market, by Technology
1. Key Findings
2. Introduction
1. Europe Rare Disease Diagnostics Market, by Technology, 2019-2032 (USD Million)
3. NGS
1. Europe Rare Disease Diagnostics Market, by NGS, 2019-2032 (USD Million)
4. Whole Exome
1. Europe Rare Disease Diagnostics Market, by Whole Exome, 2019-2032 (USD Million)
5. Whole Genome
1. Europe Rare Disease Diagnostics Market, by Whole Genome, 2019-2032 (USD Million)
6. Array
1. Europe Rare Disease Diagnostics Market, by Array, 2019-2032 (USD Million)
7. PCR Based Testing
1. Europe Rare Disease Diagnostics Market, by PCR Based Testing, 2019-2032 (USD Million)
8. FISH
1. Europe Rare Disease Diagnostics Market, by FISH, 2019-2032 (USD Million)
9. Sanger Sequencing
1. Europe Rare Disease Diagnostics Market, by Sanger Sequencing, 2019-2032 (USD Million)
10. Karyotyping
1. Europe Rare Disease Diagnostics Market, by Karyotyping, 2019-2032 (USD Million)
9. Europe Rare Disease Diagnostics Market, by Test
1. Key Findings
2. Introduction
1. Europe Rare Disease Diagnostics Market, by Test, 2019-2032 (USD Million)
3. Genetic Test
1. Europe Rare Disease Diagnostics Market, by Genetic Test 2019-2032 (USD Million)
4. Lab Test
1. Europe Rare Disease Diagnostics Market, by Lab Test, 2019-2032 (USD Million)
5. Imaging Test
1. Europe Rare Disease Diagnostics Market, by Imaging Test, 2019-2032 (USD Million)
10. Europe Rare Disease Diagnostics Market, by Age Group
1. Key Findings
2. Introduction
1. Europe Rare Disease Diagnostics Market, by Age Group, 2019-2032 (USD Million)
3. Children
1. Europe Rare Disease Diagnostics Market, by Children, 2019-2032 (USD Million)
4. Adult
1. Europe Rare Disease Diagnostics Market, by Adult, 2019-2032 (USD Million)
11. Europe Rare Disease Diagnostics Market, by Trait Type
1. Key Findings
2. Introduction
1. Europe Rare Disease Diagnostics Market, by Trait Type, 2019-2032 (USD Million)
3. Inherited
1. Europe Rare Disease Diagnostics Market, by Inherited, 2019-2032 (USD Million)
4. Acquired
1. Europe Rare Disease Diagnostics Market, by Acquired, 2019-2032 (USD Million)
12. Europe Rare Disease Diagnostics Market, by End-User
1. Key Findings
2. Introduction
1. Europe Rare Disease Diagnostics Market, by Trait Type, 2019-2032 (USD Million)
3. Research Laboratories & Cros
1. Europe Rare Disease Diagnostics Market, by Research Laboratories & Cros, 2019-2032 (USD Million)
4. Hospitals & Clinics
1. Europe Rare Disease Diagnostics Market, by Hospitals & Clinics, 2019-2032 (USD Million)
5. Diagnostic Laboratories
1. Europe Rare Disease Diagnostics Market, by Diagnostic Laboratories, 2019-2032 (USD Million)
13. Europe Rare Disease Diagnostics Market, by Country
1. Key findings
2. Introduction
1. Europe Rare Disease Diagnostics Market Assessment, By Country, 2019-2032 (USD Million)
3. Europe Rare Disease Diagnostics Market – Europe
1. Europe Rare Disease Diagnostics Market – UK
1. UK: Europe Rare Disease Diagnostics Market, by By Disease Type, 2019-2032 (USD Million)
2. UK.: Europe Rare Disease Diagnostics Market, by Technology, 2019-2032 (USD Million)
3. UK: Europe Rare Disease Diagnostics Market, by Mode of Product Type, 2019-2032 (USD Million)
4. UK: Europe Rare Disease Diagnostics Market, by Test, 2019-2032 (USD Million)
5. UK: Europe Rare Disease Diagnostics Market, by Sample Type, 2019-2032 (USD Million)
6. UK: Europe Rare Disease Diagnostics Market, by Age Group, 2019-2032 (USD Million)
7. UK: Europe Rare Disease Diagnostics Market, by Trait Type, 2019-2032 (USD Million)
2. Europe Rare Disease Diagnostics Market – France
1. France: Europe Rare Disease Diagnostics Market, by By Disease Type, 2019-2032 (USD Million)
2. France.: Europe Rare Disease Diagnostics Market, by Technology, 2019-2032 (USD Million)
3. France: Europe Rare Disease Diagnostics Market, by Mode of Product Type, 2019-2032 (USD Million)
4. France: Europe Rare Disease Diagnostics Market, by Test, 2019-2032 (USD Million)
5. France: Europe Rare Disease Diagnostics Market, by Sample Type, 2019-2032 (USD Million)
6. France: Europe Rare Disease Diagnostics Market, by Age Group, 2019-2032 (USD Million)
7. France: Europe Rare Disease Diagnostics Market, by Trait Type, 2019-2032 (USD Million)
3. Europe Rare Disease Diagnostics Market – Germany
1. Germany: Europe Rare Disease Diagnostics Market, by By Disease Type, 2019-2032 (USD Million)
2. Germany.: Europe Rare Disease Diagnostics Market, by Technology, 2019-2032 (USD Million)
3. Germany: Europe Rare Disease Diagnostics Market, by Mode of Product Type, 2019-2032 (USD Million)
4. Germany: Europe Rare Disease Diagnostics Market, by Test, 2019-2032 (USD Million)
5. Germany: Europe Rare Disease Diagnostics Market, by Sample Type, 2019-2032 (USD Million)
6. Germany: Europe Rare Disease Diagnostics Market, by Age Group, 2019-2032 (USD Million)
7. Germany: Europe Rare Disease Diagnostics Market, by Trait Type, 2019-2032 (USD Million)
4. Europe Rare Disease Diagnostics Market – Italy
1. Italy: Europe Rare Disease Diagnostics Market, by By Disease Type, 2019-2032 (USD Million)
2. Italy.: Europe Rare Disease Diagnostics Market, by Technology, 2019-2032 (USD Million)
3. Italy: Europe Rare Disease Diagnostics Market, by Mode of Product Type, 2019-2032 (USD Million)
4. Italy: Europe Rare Disease Diagnostics Market, by Test, 2019-2032 (USD Million)
5. Italy: Europe Rare Disease Diagnostics Market, by Sample Type, 2019-2032 (USD Million)
6. Italy: Europe Rare Disease Diagnostics Market, by Age Group, 2019-2032 (USD Million)
7. Italy: Europe Rare Disease Diagnostics Market, by Trait Type, 2019-2032 (USD Million)
5. Europe Rare Disease Diagnostics Market – Spain
1. Spain: Europe Rare Disease Diagnostics Market, by By Disease Type, 2019-2032 (USD Million)
2. Spain.: Europe Rare Disease Diagnostics Market, by Technology, 2019-2032 (USD Million)
3. Spain: Europe Rare Disease Diagnostics Market, by Mode of Product Type, 2019-2032 (USD Million)
4. Spain: Europe Rare Disease Diagnostics Market, by Test, 2019-2032 (USD Million)
5. Spain: Europe Rare Disease Diagnostics Market, by Sample Type, 2019-2032 (USD Million)
6. Spain: Europe Rare Disease Diagnostics Market, by Age Group, 2019-2032 (USD Million)
7. Spain: Europe Rare Disease Diagnostics Market, by Trait Type, 2019-2032 (USD Million)
6. Europe Rare Disease Diagnostics Market – Netherlands
1. Netherlands: Europe Rare Disease Diagnostics Market, by By Disease Type, 2019-2032 (USD Million)
2. Netherlands.: Europe Rare Disease Diagnostics Market, by Technology, 2019-2032 (USD Million)
3. Netherlands: Europe Rare Disease Diagnostics Market, by Mode of Product Type, 2019-2032 (USD Million)
4. Netherlands: Europe Rare Disease Diagnostics Market, by Test, 2019-2032 (USD Million)
5. Netherlands: Europe Rare Disease Diagnostics Market, by Sample Type, 2019-2032 (USD Million)
6. Netherlands: Europe Rare Disease Diagnostics Market, by Age Group, 2019-2032 (USD Million)
7. Netherlands: Europe Rare Disease Diagnostics Market, by Trait Type, 2019-2032 (USD Million)
7. Europe Rare Disease Diagnostics Market – Russia
1. Russia: Europe Rare Disease Diagnostics Market, by By Disease Type, 2019-2032 (USD Million)
2. Russia.: Europe Rare Disease Diagnostics Market, by Technology, 2019-2032 (USD Million)
3. Russia: Europe Rare Disease Diagnostics Market, by Mode of Product Type, 2019-2032 (USD Million)
4. Russia: Europe Rare Disease Diagnostics Market, by Test, 2019-2032 (USD Million)
5. Russia: Europe Rare Disease Diagnostics Market, by Sample Type, 2019-2032 (USD Million)
6. Russia: Europe Rare Disease Diagnostics Market, by Age Group, 2019-2032 (USD Million)
7. Russia: Europe Rare Disease Diagnostics Market, by Trait Type, 2019-2032 (USD Million)
14. Competitive Landscape
1. Expansion and Acquisition Analysis
1. Expansion
2. Acquisitions
2. Partnerships/Collaborations/Agreements/Exhibitions
15. Company Profiles
1. 3Million Inc
1. Company Overview
2. Financial Performance
3. Product Benchmarking
4. Recent Development
2. ARCHIMED Life Science GmbH
1. Company Overview
2. Financial Performance
3. Product Benchmarking
4. Recent Development
3. Centogene N.V.
1. Company Overview
2. Financial Performance
3. Product Benchmarking
4. Recent Development
4. Color Health Inc.
1. Company Overview
2. Financial Performance
3. Product Benchmarking
4. Recent Development
5. Eurofins Scientific, Inc.
1. Company Overview
2. Financial Performance
3. Product Benchmarking
4. Recent Development
6. Invitae Corporation
1. Company Overview
2. Financial Performance
3. Product Benchmarking
4. Recent Development
7. Macrogen Inc.
1. Company Overview
2. Financial Performance
3. Product Benchmarking
4. Recent Development
8. Quest Diagnostics Incorporated
1. Company Overview
2. Financial Performance
3. Product Benchmarking
4. Recent Development
9. REALM IDx, Inc.
1. Company Overview
2. Financial Performance
3. Product Benchmarking
4. Recent Development
10. Roche
1. Company Overview
2. Financial Performance
3. Product Benchmarking
4. Recent Development

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