Home Pharmaceuticals Global Rare Disease Diagnostics Market Size, Top Share, Opportunities, Forecast 2033

Rare Disease Diagnostics Market Size & Outlook, 2025-2033

Rare Disease Diagnostics Market Size, Share & Trends Analysis Report By Product Type (Kits and Assays, Panels), By Disease Type (Gastroenterology Disease, Endocrine and Metabolism Disorders Disease, Cardiovascular Disorders, Neurology Disease, Hematology and Oncology Disease, Dermatology Disease, Others), By Technology (Next-Generation Sequencing, Whole Genome Sequencing, Whole Exome Sequencing, Microarrays, Others), By End-User (Hospitals & Clinics, Diagnostics Laboratories, Research Laboratories & CROs) and By Region(North America, Europe, APAC, Middle East and Africa, LATAM) Forecasts, 2025-2033

Report Code: SRPH1935DR
Last Updated : Jul, 2025
Pages : 110
Author : Mitiksha Koul
Format : PDF, Excel

Table Of Content

  1. Executive Summary

    1. Research Objectives
    2. Limitations & Assumptions
    3. Market Scope & Segmentation
    4. Currency & Pricing Considered
    1. Emerging Regions / Countries
    2. Emerging Companies
    3. Emerging Applications / End Use
    1. Drivers
    2. Market Warning Factors
    3. Latest Macro Economic Indicators
    4. Geopolitical Impact
    5. Technology Factors
    1. Porters Five Forces Analysis
    2. Value Chain Analysis
    1. North America
    2. Europe
    3. APAC
    4. Middle East and Africa
    5. LATAM
  2. ESG Trends

    1. Global Rare Disease Diagnostics Market Introduction
    2. By Product Type
      1. Introduction
        1. Product Type By Value
      2. Kits and Assays
        1. By Value
      3. Panels
        1. By Value
    3. By Disease Type
      1. Introduction
        1. Disease Type By Value
      2. Gastroenterology Disease
        1. By Value
      3. Endocrine and Metabolism Disorders Disease
        1. By Value
      4. Cardiovascular Disorders
        1. By Value
      5. Neurology Disease
        1. By Value
      6. Hematology and Oncology Disease
        1. By Value
      7. Dermatology Disease
        1. By Value
      8. Others
        1. By Value
    4. By Technology
      1. Introduction
        1. Technology By Value
      2. Next-Generation Sequencing
        1. By Value
      3. Whole Genome Sequencing
        1. By Value
      4. Whole Exome Sequencing
        1. By Value
      5. Microarrays
        1. By Value
      6. Others
        1. By Value
    5. By End-User
      1. Introduction
        1. End-User By Value
      2. Hospitals & Clinics
        1. By Value
      3. Diagnostics Laboratories
        1. By Value
      4. Research Laboratories & CROs
        1. By Value
    1. Introduction
    2. By Product Type
      1. Introduction
        1. Product Type By Value
      2. Kits and Assays
        1. By Value
      3. Panels
        1. By Value
    3. By Disease Type
      1. Introduction
        1. Disease Type By Value
      2. Gastroenterology Disease
        1. By Value
      3. Endocrine and Metabolism Disorders Disease
        1. By Value
      4. Cardiovascular Disorders
        1. By Value
      5. Neurology Disease
        1. By Value
      6. Hematology and Oncology Disease
        1. By Value
      7. Dermatology Disease
        1. By Value
      8. Others
        1. By Value
    4. By Technology
      1. Introduction
        1. Technology By Value
      2. Next-Generation Sequencing
        1. By Value
      3. Whole Genome Sequencing
        1. By Value
      4. Whole Exome Sequencing
        1. By Value
      5. Microarrays
        1. By Value
      6. Others
        1. By Value
    5. By End-User
      1. Introduction
        1. End-User By Value
      2. Hospitals & Clinics
        1. By Value
      3. Diagnostics Laboratories
        1. By Value
      4. Research Laboratories & CROs
        1. By Value
    6. U.S.
      1. By Product Type
        1. Introduction
          1. Product Type By Value
        2. Kits and Assays
          1. By Value
        3. Panels
          1. By Value
      2. By Disease Type
        1. Introduction
          1. Disease Type By Value
        2. Gastroenterology Disease
          1. By Value
        3. Endocrine and Metabolism Disorders Disease
          1. By Value
        4. Cardiovascular Disorders
          1. By Value
        5. Neurology Disease
          1. By Value
        6. Hematology and Oncology Disease
          1. By Value
        7. Dermatology Disease
          1. By Value
        8. Others
          1. By Value
      3. By Technology
        1. Introduction
          1. Technology By Value
        2. Next-Generation Sequencing
          1. By Value
        3. Whole Genome Sequencing
          1. By Value
        4. Whole Exome Sequencing
          1. By Value
        5. Microarrays
          1. By Value
        6. Others
          1. By Value
      4. By End-User
        1. Introduction
          1. End-User By Value
        2. Hospitals & Clinics
          1. By Value
        3. Diagnostics Laboratories
          1. By Value
        4. Research Laboratories & CROs
          1. By Value
    7. Canada
    1. Introduction
    2. By Product Type
      1. Introduction
        1. Product Type By Value
      2. Kits and Assays
        1. By Value
      3. Panels
        1. By Value
    3. By Disease Type
      1. Introduction
        1. Disease Type By Value
      2. Gastroenterology Disease
        1. By Value
      3. Endocrine and Metabolism Disorders Disease
        1. By Value
      4. Cardiovascular Disorders
        1. By Value
      5. Neurology Disease
        1. By Value
      6. Hematology and Oncology Disease
        1. By Value
      7. Dermatology Disease
        1. By Value
      8. Others
        1. By Value
    4. By Technology
      1. Introduction
        1. Technology By Value
      2. Next-Generation Sequencing
        1. By Value
      3. Whole Genome Sequencing
        1. By Value
      4. Whole Exome Sequencing
        1. By Value
      5. Microarrays
        1. By Value
      6. Others
        1. By Value
    5. By End-User
      1. Introduction
        1. End-User By Value
      2. Hospitals & Clinics
        1. By Value
      3. Diagnostics Laboratories
        1. By Value
      4. Research Laboratories & CROs
        1. By Value
    6. U.K.
      1. By Product Type
        1. Introduction
          1. Product Type By Value
        2. Kits and Assays
          1. By Value
        3. Panels
          1. By Value
      2. By Disease Type
        1. Introduction
          1. Disease Type By Value
        2. Gastroenterology Disease
          1. By Value
        3. Endocrine and Metabolism Disorders Disease
          1. By Value
        4. Cardiovascular Disorders
          1. By Value
        5. Neurology Disease
          1. By Value
        6. Hematology and Oncology Disease
          1. By Value
        7. Dermatology Disease
          1. By Value
        8. Others
          1. By Value
      3. By Technology
        1. Introduction
          1. Technology By Value
        2. Next-Generation Sequencing
          1. By Value
        3. Whole Genome Sequencing
          1. By Value
        4. Whole Exome Sequencing
          1. By Value
        5. Microarrays
          1. By Value
        6. Others
          1. By Value
      4. By End-User
        1. Introduction
          1. End-User By Value
        2. Hospitals & Clinics
          1. By Value
        3. Diagnostics Laboratories
          1. By Value
        4. Research Laboratories & CROs
          1. By Value
    7. Germany
    8. France
    9. Spain
    10. Italy
    11. Russia
    12. Nordic
    13. Benelux
    14. Rest of Europe
    1. Introduction
    2. By Product Type
      1. Introduction
        1. Product Type By Value
      2. Kits and Assays
        1. By Value
      3. Panels
        1. By Value
    3. By Disease Type
      1. Introduction
        1. Disease Type By Value
      2. Gastroenterology Disease
        1. By Value
      3. Endocrine and Metabolism Disorders Disease
        1. By Value
      4. Cardiovascular Disorders
        1. By Value
      5. Neurology Disease
        1. By Value
      6. Hematology and Oncology Disease
        1. By Value
      7. Dermatology Disease
        1. By Value
      8. Others
        1. By Value
    4. By Technology
      1. Introduction
        1. Technology By Value
      2. Next-Generation Sequencing
        1. By Value
      3. Whole Genome Sequencing
        1. By Value
      4. Whole Exome Sequencing
        1. By Value
      5. Microarrays
        1. By Value
      6. Others
        1. By Value
    5. By End-User
      1. Introduction
        1. End-User By Value
      2. Hospitals & Clinics
        1. By Value
      3. Diagnostics Laboratories
        1. By Value
      4. Research Laboratories & CROs
        1. By Value
    6. China
      1. By Product Type
        1. Introduction
          1. Product Type By Value
        2. Kits and Assays
          1. By Value
        3. Panels
          1. By Value
      2. By Disease Type
        1. Introduction
          1. Disease Type By Value
        2. Gastroenterology Disease
          1. By Value
        3. Endocrine and Metabolism Disorders Disease
          1. By Value
        4. Cardiovascular Disorders
          1. By Value
        5. Neurology Disease
          1. By Value
        6. Hematology and Oncology Disease
          1. By Value
        7. Dermatology Disease
          1. By Value
        8. Others
          1. By Value
      3. By Technology
        1. Introduction
          1. Technology By Value
        2. Next-Generation Sequencing
          1. By Value
        3. Whole Genome Sequencing
          1. By Value
        4. Whole Exome Sequencing
          1. By Value
        5. Microarrays
          1. By Value
        6. Others
          1. By Value
      4. By End-User
        1. Introduction
          1. End-User By Value
        2. Hospitals & Clinics
          1. By Value
        3. Diagnostics Laboratories
          1. By Value
        4. Research Laboratories & CROs
          1. By Value
    7. Korea
    8. Japan
    9. India
    10. Australia
    11. Taiwan
    12. South East Asia
    13. Rest of Asia-Pacific
    1. Introduction
    2. By Product Type
      1. Introduction
        1. Product Type By Value
      2. Kits and Assays
        1. By Value
      3. Panels
        1. By Value
    3. By Disease Type
      1. Introduction
        1. Disease Type By Value
      2. Gastroenterology Disease
        1. By Value
      3. Endocrine and Metabolism Disorders Disease
        1. By Value
      4. Cardiovascular Disorders
        1. By Value
      5. Neurology Disease
        1. By Value
      6. Hematology and Oncology Disease
        1. By Value
      7. Dermatology Disease
        1. By Value
      8. Others
        1. By Value
    4. By Technology
      1. Introduction
        1. Technology By Value
      2. Next-Generation Sequencing
        1. By Value
      3. Whole Genome Sequencing
        1. By Value
      4. Whole Exome Sequencing
        1. By Value
      5. Microarrays
        1. By Value
      6. Others
        1. By Value
    5. By End-User
      1. Introduction
        1. End-User By Value
      2. Hospitals & Clinics
        1. By Value
      3. Diagnostics Laboratories
        1. By Value
      4. Research Laboratories & CROs
        1. By Value
    6. UAE
      1. By Product Type
        1. Introduction
          1. Product Type By Value
        2. Kits and Assays
          1. By Value
        3. Panels
          1. By Value
      2. By Disease Type
        1. Introduction
          1. Disease Type By Value
        2. Gastroenterology Disease
          1. By Value
        3. Endocrine and Metabolism Disorders Disease
          1. By Value
        4. Cardiovascular Disorders
          1. By Value
        5. Neurology Disease
          1. By Value
        6. Hematology and Oncology Disease
          1. By Value
        7. Dermatology Disease
          1. By Value
        8. Others
          1. By Value
      3. By Technology
        1. Introduction
          1. Technology By Value
        2. Next-Generation Sequencing
          1. By Value
        3. Whole Genome Sequencing
          1. By Value
        4. Whole Exome Sequencing
          1. By Value
        5. Microarrays
          1. By Value
        6. Others
          1. By Value
      4. By End-User
        1. Introduction
          1. End-User By Value
        2. Hospitals & Clinics
          1. By Value
        3. Diagnostics Laboratories
          1. By Value
        4. Research Laboratories & CROs
          1. By Value
    7. Turkey
    8. Saudi Arabia
    9. South Africa
    10. Egypt
    11. Nigeria
    12. Rest of MEA
    1. Introduction
    2. By Product Type
      1. Introduction
        1. Product Type By Value
      2. Kits and Assays
        1. By Value
      3. Panels
        1. By Value
    3. By Disease Type
      1. Introduction
        1. Disease Type By Value
      2. Gastroenterology Disease
        1. By Value
      3. Endocrine and Metabolism Disorders Disease
        1. By Value
      4. Cardiovascular Disorders
        1. By Value
      5. Neurology Disease
        1. By Value
      6. Hematology and Oncology Disease
        1. By Value
      7. Dermatology Disease
        1. By Value
      8. Others
        1. By Value
    4. By Technology
      1. Introduction
        1. Technology By Value
      2. Next-Generation Sequencing
        1. By Value
      3. Whole Genome Sequencing
        1. By Value
      4. Whole Exome Sequencing
        1. By Value
      5. Microarrays
        1. By Value
      6. Others
        1. By Value
    5. By End-User
      1. Introduction
        1. End-User By Value
      2. Hospitals & Clinics
        1. By Value
      3. Diagnostics Laboratories
        1. By Value
      4. Research Laboratories & CROs
        1. By Value
    6. Brazil
      1. By Product Type
        1. Introduction
          1. Product Type By Value
        2. Kits and Assays
          1. By Value
        3. Panels
          1. By Value
      2. By Disease Type
        1. Introduction
          1. Disease Type By Value
        2. Gastroenterology Disease
          1. By Value
        3. Endocrine and Metabolism Disorders Disease
          1. By Value
        4. Cardiovascular Disorders
          1. By Value
        5. Neurology Disease
          1. By Value
        6. Hematology and Oncology Disease
          1. By Value
        7. Dermatology Disease
          1. By Value
        8. Others
          1. By Value
      3. By Technology
        1. Introduction
          1. Technology By Value
        2. Next-Generation Sequencing
          1. By Value
        3. Whole Genome Sequencing
          1. By Value
        4. Whole Exome Sequencing
          1. By Value
        5. Microarrays
          1. By Value
        6. Others
          1. By Value
      4. By End-User
        1. Introduction
          1. End-User By Value
        2. Hospitals & Clinics
          1. By Value
        3. Diagnostics Laboratories
          1. By Value
        4. Research Laboratories & CROs
          1. By Value
    7. Mexico
    8. Argentina
    9. Chile
    10. Colombia
    11. Rest of LATAM
    1. Rare Disease Diagnostics Market Share By Players
    2. M&A Agreements & Collaboration Analysis
    1. 23andMe Inc.
      1. Overview
      2. Business Information
      3. Revenue
      4. ASP
      5. SWOT Analysis
      6. Recent Developments
    2. 3billion Inc.
    3. Agilent Technologies Inc.
    4. Beijing Genomics Institute (BGI)
    5. CENTOGENE N.V.
    6. Eurofins Scientific SE
    7. GENEWIZ Inc.
    8. Illumina Inc.
    9. In-Depth Genomics
    10. Invitae Corporation
    11. Laboratory Corporation of America Holdings
    12. OPKO Health
    13. PerkinElmer Inc.
    14. Quest Diagnostics Incorporated
    15. Travere Therapeutics Inc.
    1. Research Data
      1. Secondary Data
        1. Major secondary sources
        2. Key data from secondary sources
      2. Primary Data
        1. Key data from primary sources
        2. Breakdown of primaries
      3. Secondary And Primary Research
        1. Key industry insights
    2. Market Size Estimation
      1. Bottom-Up Approach
      2. Top-Down Approach
      3. Market Projection
    3. Research Assumptions
      1. Assumptions
    4. Limitations
    5. Risk Assessment
    1. Discussion Guide
    2. Customization Options
    3. Related Reports
  3. Disclaimer

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