Europe Rare Disease Diagnostics Market Size Worth USD 22,767.23 Million By 2032 | CAGR: 9.1%

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

Rare Disease Diagnostics Market Report Scope