About Us Services Careers FAQ Contact Us 0
Home Pharmaceuticals Global Rare Disease Diagnostics Market Size, Top Share, Opportunities, Forecast 2033
Rare Disease Diagnostics Market

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
Author : Straits Research
Buy Now
File Formats

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

Related Reports

Global Report
Market Overview The global autoimmune disease diagnostics market size was valued at USD 4,253.29 million in 2021 and is anticipated to generate 8089.97 million by 2030. The market is projected to grow at a CAGR of 7.17% during the forecast period (2
Buy Now
Global Report
Malaria Diagnostics Market Size The global malaria diagnostics market size was valued at USD 841.92 million in 2024 and is expected to grow from USD 884.85 million in 2025 to USD 1317.33 million by 2033, growing at a CAGR of 5.1%
Buy Now
Global Report
Remote Diagnostics Market Size & Trends The global remote diagnostics market size was valued at USD 41.3 billion in 2023. It is expected to reach USD 121.3 billion by 2032, growing at a CAGR of 31.8% during the forecast period (2024–20
Buy Now
Global Report
The global sepsis diagnostics market size was valued at USD 685 million in 2022. It is expected to reach USD 1,427.44 million by 2031 at a CAGR of 8.5% during the projected period (2023–2031). Factors such as increasing prevalence of
Buy Now
Global Report
The global transplant diagnostics market size was valued at USD 3,550 million in 2019 and is expected to grow with a CAGR of 7.4% during the forecast period, 2020–2029. Organ transplantation is a surgical procedure of removing healthy org
Buy Now

Purchase Benefits

  • Eligible for a free updated report next year
  • Completely customizable scope
  • 30% discount on your next purchase
  • Dedicated account manager
  • Query resolution within 24 hours
  • Permission to print the report

We are featured on :

www.straitsresearch.com
© Copyright 2025. All rights Reserved.