Rare Disease Diagnostics Market, By Disease Type (Gastroenterology Disease, Endocrine and Metabolism Disorders, Cardiovascular Disorders, Neurology Disease, Hematology and Oncology Disease, Dermatology Disease Type, Other Therapeutic Areas), By Test Type (Genetic Test, General Lab Tests, Imaging Test Type, and Other Tests), By Trait(Inherited Trait Type, and Acquired Trait Type), By Age Group (Children Age Group, and Adult Age Group), By End User (Hospital Laboratories, Diagnostic laboratories, Genetic Testing Laboratories, Cancer Research Laboratories and Other End User) and By Region (North America, Europe, Asia Pacific, Latin America, and Middle East & Africa) - Trends, Analysis and Forecast till 2030

Report Code: PMI383820 | Publish Date: May 2024 | No. of Pages: 180

Global Rare Disease Diagnostics Market Overview

Rare Disease Diagnostics Market accounted for US$ 46.0 Billion in 2024 and is estimated to be US$ 77.5 Billion by 2034 and is anticipated to register a CAGR of 5.9%.

A rare disease is normally considered to be a disease that affects less than 200,000 in US. Every nation have their own official definitions of a rare disease. In the European Union, a diseases affects fewer than 1 in 2,000 people defined as rare diseases. Rare diseases are also sometimes called orphan diseases. There are a group of around 6000-7000 life threatening diseases affecting a small percentage of the population. Rare disease diagnosis includes extensive range of diagnostic tests such as genetic tests, lab tests, imaging, physical examinations performed in diagnostic laboratories, hospitals, cancer research institutes and others.

Global Rare Disease Diagnostics Market Dynamics

The increasing patient pool for rare disease growth, also support by government funding to accelerate research in rare diseases, plus interest of large pharmaceutical companies in manufacturing orphan drugs and orphan disease diagnostic devices this are the major factor driving the growth of target market. In addition pharmaceutical key players are investing in the R&D for the development of innovative and better diagnostic devices for rare disease. Additionally increase in the awareness among people about rare diseases is also is also expected to drives the growth of target market. Additionally the increasing initiatives by various organization and government of nation to focus on research and development propel the growth of target market. For instanced according to Genetic and Rare Diseases Information Center (GARD) The National Institutes of Health (NIH) supports research to advance the health of people with rare diseases. Additionally the 27 Institutes and Centers at the NIH fund medical research for rare diseases. This method aims to speed the growth of treatments that will finally serve both rare and common diseases such factor drives the target market growth.

Global Rare Disease Diagnostics Market Segmentation

Rare disease diagnostics market is segmented based by disease type, test type, by trait, by age group, by end user and region.

On the basis of disease type the global rare disease diagnostics market is segmented into gastroenterology disease, endocrine and metabolism disorders, cardiovascular disorders, neurology disease, hematology and oncology disease, dermatology disease type, other therapeutic areas. By test type the global rare disease diagnostics market is segmented into genetic test, general lab tests, imaging test type, and other tests. By trait the global rare disease diagnostics market is segmented into inherited trait type, and acquired trait type. On the basis of age group the global rare disease diagnostics market is segmented into children age group, and adult age group. By end user the global rare disease diagnostics market is segmented into hospital laboratories, diagnostic laboratories, genetic testing laboratories, cancer research laboratories and other end user.

Based on region the global Rare Disease Diagnostics market is segmented into North America, Europe, Asia Pacific, Latin America, and Middle East & Africa. North America is expected to dominate the target market. Owing to increasing awareness about the rare dieases in the population and favorable government initiatives are major factor driving the target market growth in region. In initiatives addition taken by the regional player to biochemical testing for rare diseases in North America, for instance on Sep 24, 2019 in New York  the Clinical genetics firm Blueprint Genetics and rare disease diagnostics company Archimedlife Medical Laboratory have joined to offer biochemical testing for rare diseases in North America. However, the market for the Asia-pacific region is expected show high growth rate during the forecast period, wowing to increasing government imitative to provide healthy life style and reduce prevalence of such diseases form various emerging nation factors drives the target market growth. For instance Asia Pacific Alliance of Rare Disease Organizations (APARDO) is on the point of an exciting opportunity with the recent (November, 2018) Asia Pacific Economic Cooperation (APEC) authorization of the Rare Disease Action Plan. This Plan identifies 10 key areas of policy and makes recommendations for their execution by APEC Member Economies in an effort to improve the diagnosis, care and management of rare diseases.

Rare Disease Diagnostics Market, By Disease Type:

  • Gastroenterology Disease
  • Endocrine and Metabolism Disorders
  • Cardiovascular Disorders
  • Neurology Disease
  • Hematology and Oncology Disease
  • Dermatology Disease Type
  • Other Therapeutic Areas

Global Rare Disease Diagnostics Market, By Test Type:

  • Genetic Test
  • General Lab Tests
  • Imaging Test Type
  • Other Tests

Rare Disease Diagnostics Market, By Trait

  • Inherited Trait Type
  • Acquired Trait Type

Rare Disease Diagnostics Market, By Age Group

  • Children Age Group
  • Adult Age Group

Rare Disease Diagnostics Market, By End User

  • Hospital Laboratories
  • Diagnostic laboratories
  • Genetic Testing Laboratories
  • Cancer Research Laboratories
  • Other End User

Rare Disease Diagnostics Market, By Region:

  • North America
    • Middle East & Africa
      • Middle East & Africa Rare Disease Diagnostics Market, By Disease Type
      • Middle East & Africa Rare Disease Diagnostics Market, By Test Type
      • Middle East & Africa Rare Disease Diagnostics Market, By Trait
      • Middle East & Africa Rare Disease Diagnostics Market, By Age Group
      • Middle East & Africa Rare Disease Diagnostics Market, By End-User
      • Middle East & Africa Rare Disease Diagnostics Market, By Country
        • GCC
        • Israel
        • South Africa
        • Rest of Middle East & Africa
    • Latin America
      • Latin America Rare Disease Diagnostics Market, By Disease Type
      • Latin America Rare Disease Diagnostics Market, By Test Type
      • Latin America Rare Disease Diagnostics Market, By Trait
      • Latin America Rare Disease Diagnostics Market, By Age Group
      • Latin America Rare Disease Diagnostics Market, By End-User
      • Latin America Rare Disease Diagnostics Market, By Country
        • Brazil
        • Mexico
        • Rest of Latin America
    • Asia Pacific
      • Asia Pacific Rare Disease Diagnostics Market, By Disease Type
      • Asia Pacific Rare Disease Diagnostics Market, By Test Type
      • Asia Pacific Rare Disease Diagnostics Market, By Trait
      • Asia Pacific Rare Disease Diagnostics Market, By Age Group
      • Asia Pacific Rare Disease Diagnostics Market, By End-User
      • Asia Pacific Rare Disease Diagnostics Market, By Country
        • China
        • India
        • Japan
        • South Korea
        • Rest of Asia Pacific                                                                                                                                                                                                                                                                                                                                                                                                      
    • Europe
      • Europe Rare Disease Diagnostics Market, By Disease Type
      • Europe Rare Disease Diagnostics Market, By Test Type
      • Europe Rare Disease Diagnostics Market, By Trait
      • Europe Rare Disease Diagnostics Market, By Age Group
      • Europe Rare Disease Diagnostics Market, By End-User
      • Europe Rare Disease Diagnostics Market, By Country
        • Germany
        • UK
        • France
        • Russia
        • Italy
        • Rest of Europe
    • North America Rare Disease Diagnostics Market, By Disease Type
    • North America Rare Disease Diagnostics Market, By Test Type
    • North America Rare Disease Diagnostics Market, By Trait
    • North America Rare Disease Diagnostics Market, By Age Group
    • North America Rare Disease Diagnostics Market, By End-User
    • North America Rare Disease Diagnostics Market, By Country
      • U.S.
      • Canada

Global Rare Disease Diagnostics Market Key Players

Retrophin, Inc., 3billion, Inc., 23andMe, Inc., QIAGEN N.V., Illumina Inc., PerkinElmer, Inc., BGI, Partek, Inc., GENEWIZ, Centogene A.G., Strand Life Sciences Pvt Ltd., Eurofins Scientific, Laboratory Corporation of America, and Laboratory Corporation of America. The vendors in the market are focusing on research and development and innovation of new product with providing customize service for better health care.

Global Rare Disease Diagnostics Market Company Profile

  • Retrophin, Inc
    • Company Overview
    • Product Portfolio
    • Key Highlights
    • Financial Performance
  • 3billion, Inc.
  • 23andMe, Inc.
  • QIAGEN N.V.
  • Illumina Inc.
  • PerkinElmer, Inc.
  • BGI, Partek, Inc.
  • GENEWIZ
  • Centogene A.G.
  • Strand Life Sciences Pvt Ltd.
  • Eurofins Scientific
  • Laboratory Corporation of America

 “*” marked represents similar segmentation in other categories in the respective section.

Global Rare Disease Diagnostics Market Table of Contents

  1. Research Objective and Assumption
    • Preface
    • Research Objectives
    • Study Scope
    • Years considered for the study
    • Assumptions
    • Abbreviations
  2. Research Methodology
    •  Research data
    • Primary Data
      • Primary Interviews
      • Primary Breakdown
      • Key data from Primary Test Types
      • Key Industry Insights
    • Secondary Data
      • Major Secondary Test Types
      • Secondary Test Types
    • Market Estimation
    • Top-Down Approach
      • Approach for estimating Market Share by Top-Down Analysis (Supply Side)
    • Bottom-Up Approach
      • Approach for estimating market share by Bottom-up Analysis (Demand Side)
    • Market Breakdown and Data Triangulation
    • Research Assumptions
  3. Market Preview
    • Executive Summary
    • Key Findings—Global Outlook for Rare Disease Diagnostics  Strategies
      • Key Questions this Study will Answer
      • Market Snippet, By Disease Type
      • Market Snippet, By Test Type
      • Market Snippet, By Trait
      • Market Snippet, By Age Group
      • Market Snippet, By End-User
      • Market Snippet, By Region
    • Opportunity Map Analysis
    • Executive Summary—3 Big Predictions
  4. Market Dynamics, Regulations, and Trends Analysis
    • Market Dynamics
      • Drivers
      • Restraints
      • Market Opportunities
      • Market Trends
    • DR Impact Analysis
    • PEST Analysis
    • Porter’s Five Forces Analysis
    • Opportunity Orbit
    • Market Investment Feasibility Index
    • Macroeconomic Factor Analysis
  5. Market Segmentation, By Disease Type, 2020 – 2030, (US$ Mn)
    • Overview
      • Market Value and Forecast (US$ Mn), and Share Analysis (%), 2020 – 2030
      • Y-o-Y Growth Analysis (%), 2020 – 2030
      • Segment Trends
    • Gastroenterology Disease
      • Overview
      • Market Size and Forecast (US$ Mn), and Y-o-Y Growth (%), 2020 – 2030
    • Endocrine and Metabolism Disorders
      • Overview
      • Market Size and Forecast (US$ Mn), and Y-o-Y Growth (%), 2020 – 2030
    • Cardiovascular Disorders
      • Overview
      • Market Size and Forecast (US$ Mn), and Y-o-Y Growth (%), 2020 – 2030
    • Neurology Disease
      • Overview
      • Market Size and Forecast (US$ Mn), and Y-o-Y Growth (%), 2020 – 2030
    • Haematology and Oncology Disease
      • Overview
      • Market Size and Forecast (US$ Mn), and Y-o-Y Growth (%), 2020 – 2030
    • Dermatology Disease Type
      • Overview
      • Market Size and Forecast (US$ Mn), and Y-o-Y Growth (%), 2020 – 2030
    • Other Therapeutic Areas
      • Overview
      • Market Size and Forecast (US$ Mn), and Y-o-Y Growth (%), 2020 – 2030
  6. Market Segmentation, By Test Type, 2020 – 2030, (US$ Mn)
    • Overview
      • Market Value and Forecast (US$ Mn), and Share Analysis (%), 2020 – 2030
      • Y-o-Y Growth Analysis (%), 2020 – 2030
      • Segment Trends
    • Genetic Test
      • Overview
      • Market Size and Forecast (US$ Mn), and Y-o-Y Growth (%), 2020 – 2030
    • General Lab Tests
      • Overview
      • Market Size and Forecast (US$ Mn), and Y-o-Y Growth (%), 2020 – 2030
    • Imaging Test Type
      • Overview
      • Market Size and Forecast (US$ Mn), and Y-o-Y Growth (%), 2020 – 2030
    • Other Tests
      • Overview
      • Market Size and Forecast (US$ Mn), and Y-o-Y Growth (%), 2020 – 2030
  7. Market Segmentation, By Trait, 2020 – 2030, (US$ Mn)
    • Overview
      • Market Value and Forecast (US$ Mn), and Share Analysis (%), 2020 – 2030
      • Y-o-Y Growth Analysis (%), 2020 – 2030
      • Segment Trends
    • Inherited Trait Type
      • Overview
      • Market Size and Forecast (US$ Mn), and Y-o-Y Growth (%), 2020 – 2030
    • Acquired Trait Type
      • Overview
      • Market Size and Forecast (US$ Mn), and Y-o-Y Growth (%), 2020 – 2030
  8. Market Segmentation, By Age Group, 2020 – 2030, (US$ Mn)
    • Overview
      • Market Value and Forecast (US$ Mn), and Share Analysis (%), 2020 – 2030
      • Y-o-Y Growth Analysis (%), 2020 – 2030
      • Segment Trends
    • Children Age Group
      • Overview
      • Market Size and Forecast (US$ Mn), and Y-o-Y Growth (%), 2020 – 2030
    • Adult Age Group
      • Overview
      • Market Size and Forecast (US$ Mn), and Y-o-Y Growth (%), 2020 – 2030
  9. Market Segmentation, By End-user, 2020 – 2030, (US$ Mn)
    • Overview
      • Market Value and Forecast (US$ Mn), and Share Analysis (%), 2020 – 2030
      • Y-o-Y Growth Analysis (%), 2020 – 2030
      • Segment Trends
    • Hospital Laboratories
      • Overview
      • Market Size and Forecast (US$ Mn), and Y-o-Y Growth (%), 2020 – 2030
    • Diagnostic laboratories
      • Overview
      • Market Size and Forecast (US$ Mn), and Y-o-Y Growth (%), 2020 – 2030
    • Genetic Testing Laboratories
      • Overview
      • Market Size and Forecast (US$ Mn), and Y-o-Y Growth (%), 2020 – 2030
    • Cancer Research Laboratories
      • Overview
      • Market Size and Forecast (US$ Mn), and Y-o-Y Growth (%), 2020 – 2030
    • Other End User
      • Overview
      • Market Size and Forecast (US$ Mn), and Y-o-Y Growth (%), 2020 – 2030
  10. Global Market, By Region, 2020 – 2030, (US$ Mn)
    • Overview
      • Market Value and Forecast (US$ Mn), and Share Analysis (%), 2020 – 2030
      • Y-o-Y Growth Analysis (%), 2020 – 2030
      • Regional Trends
    • North America
      • Market Size and Forecast (US$ Mn), By Disease Type, 2020 – 2030
      • Market Size and Forecast (US$ Mn), By Test Type, 2020 – 2030
      • Market Size and Forecast (US$ Mn), By Trait, 2020 – 2030
      • Market Size and Forecast (US$ Mn), By Age Group, 2020 – 2030
      • Market Size and Forecast (US$ Mn), By End-User, 2020 – 2030
      • Market Size and Forecast (US$ Mn), By Country, 2020 – 2030
        • U.S.
        • Canada
    • Europe
      • Market Size and Forecast (US$ Mn), By Disease Type, 2020 – 2030
      • Market Size and Forecast (US$ Mn), By Test Type, 2020 – 2030
      • Market Size and Forecast (US$ Mn), By Trait, 2020 – 2030
      • Market Size and Forecast (US$ Mn), By Age Group, 2020 – 2030
      • Market Size and Forecast (US$ Mn), By End-User, 2020 – 2030
      • Market Size and Forecast (US$ Mn), By Country, 2020 – 2030
        • Germany
        • UK
        • France
        • Russia
        • Italy
        • Rest of Europe
    • Asia Pacific
      • Market Size and Forecast (US$ Mn), By Disease Type, 2020 – 2030
      • Market Size and Forecast (US$ Mn), By Test Type, 2020 – 2030
      • Market Size and Forecast (US$ Mn), By Trait, 2020 – 2030
      • Market Size and Forecast (US$ Mn), By Age Group, 2020 – 2030
      • Market Size and Forecast (US$ Mn), By End-User, 2020 – 2030
      • Market Size and Forecast (US$ Mn), By Country, 2020 – 2030
        • China
        • India
        • Japan
        • South Korea
        • Rest of Asia Pacific
    • Latin America
      • Market Size and Forecast (US$ Mn), By Disease Type, 2020 – 2030
      • Market Size and Forecast (US$ Mn), By Test Type, 2020 – 2030
      • Market Size and Forecast (US$ Mn), By Trait, 2020 – 2030
      • Market Size and Forecast (US$ Mn), By Age Group, 2020 – 2030
      • Market Size and Forecast (US$ Mn), By End-User, 2020 – 2030
      • Market Size and Forecast (US$ Mn), By Country, 2020 – 2030
        • Brazil
        • Mexico
        • Rest of Latin America
    • Middle East & Africa
      • Market Size and Forecast (US$ Mn), By Disease Type, 2020 – 2030
      • Market Size and Forecast (US$ Mn), By Test Type, 2020 – 2030
      • Market Size and Forecast (US$ Mn), By Trait, 2020 – 2030
      • Market Size and Forecast (US$ Mn), By Age Group, 2020 – 2030
      • Market Size and Forecast (US$ Mn), By End-User, 2020 – 2030
      • Market Size and Forecast (US$ Mn), By Country, 2020 – 2030
        • GCC
        • Israel
        • South Africa
        • Rest of Middle East
  11. Competitive Landscape
    • Heat Map Analysis
    • Market Presence and Specificity Analysis
  12. Company Profiles
    • Retrophin, Inc
      • Financial Overview
      • Key Highlights
      • Product Portfolio
      • Company Overview
      • 3billion, Inc.
        • Company Overview
        • Product Portfolio
        • Key Highlights
        • Financial Overview
      • 23andMe, Inc.
        • Company Overview
        • Product Portfolio
        • Key Highlights
        • Financial Overview
      • QIAGEN N.V.
        • Company Overview
        • Product Portfolio
        • Key Highlights
        • Financial Overview
      • Illumina Inc.
        • Company Overview
        • Product Portfolio
        • Key Highlights
        • Financial Overview
      • PerkinElmer, Inc.
        • Company Overview
        • Product Portfolio
        • Key Highlights
        • Financial Overview
      • BGI, Partek, Inc.
        • Company Overview
        • Product Portfolio
        • Key Highlights
        • Financial Overview
      • GENEWIZ
        • Company Overview
        • Product Portfolio
        • Key Highlights
        • Financial Overview
      • Centogene A.G.
        • Company Overview
        • Product Portfolio
        • Key Highlights
        • Financial Overview
      • Strand Life Sciences Pvt Ltd.
        • Company Overview
        • Product Portfolio
        • Key Highlights
        • Financial Overview
      • Eurofins Scientific
        • Company Overview
        • Product Portfolio
        • Key Highlights
        • Financial Overview
      • Laboratory Corporation of America
        • Company Overview
        • Product Portfolio
        • Key Highlights
        • Financial Overview
  13. The Last Word
    • Future Impact
    • About Us
    • Contact

FAQs

The global rare disease diagnostics market is segmented based by disease type, test type, by trait, by age group, by the end-user and region.

The increasing patient pool for rare disease growth and growing support from the government to accelerate research in rare diseases, plus the interest of large pharmaceutical companies in manufacturing orphan drugs and orphan disease diagnostic devices are the major factor driving the growth of the target market.

North America is expected to dominate the target market owing to increasing awareness about the rare diseases in the population and favorable government initiatives.

The vendors in the market are focusing on research and development and innovation of new products by providing customized services for better health care.