Overview


According to FutureWise analysis the market for Rare Disease Genetic Testing in 2023 is US$ 1.01 billion, and is expected to reach US$ 2.98 billion by 2031 at a CAGR of 14.50%.

FutureWise Market Research has instantiated a report that provides an intricate analysis of Rare Disease Genetic Testing Market trends that shall affect the overall market growth. Furthermore, it includes detailed information on the graph of profitability, SWOT analysis, market share and regional proliferation of this business. Moreover, the report offers insights on the current stature of prominent market players in the competitive landscape analysis of this market.

According to the research study conducted by FutureWise research analysts, the Rare Disease Genetic Testing Market is anticipated to attain substantial growth by the end of the forecast period. The report explains that this business is predicted to register a noteworthy growth rate over the forecast period. This report provides crucial information pertaining to the total valuation that is presently held by this industry and it also lists the segmentation of the market along with the growth opportunities present across this business vertical.

  • Quest Diagnostics Inc.
  • Centogene N.V.
  • Invitae Corporation
  • 3billion, Inc.
  • Arup Laboratories
  • Eurofins Scientific
  • Strand Life Sciences
  • Ambry Genetics
  • Perkin Elmer, Inc.
  • Macrogen, Inc.
  • Baylor Genetics
  • Color Genomics, Inc.
  • Health Network Laboratories
  • Preventiongenetics
  • Progenity, Inc.
  • Coopersurgical, Inc.
  • Fulgent Genetics Inc.
  • Myriad Genetics, Inc.
  • Laboratory Corporation Of America Holdings
  • Opko Health, Inc.

(Note: The list of the major players will be updated with the latest market scenario and trends)

By Disease Type

  • Neurological Disorders
  • Immunological Disorders
  • Hematology Diseases
  • Endocrine and Metabolism Diseases
  • Cancer
  • Musculoskeletal Disorders
  • Cardiovascular Disorders (CVDs)
  • Dermatology Disease
  • Others

By Technology

  • Next-Generation Sequencing (NGS)
    • Whole Exome Sequencing (WES)
    • Whole Genome Sequencing (WGS)
  • Array Technology
  • PCR-based Testing
  • FISH
  • Sanger Sequencing
  • Karyotyping

By Specialty

  • Molecular Genetic Tests
  • Chromosomal Genetic Tests
  • Biochemical Genetic Tests

By End User

  • Research Laboratories and CROs
  • Diagnostic Laboratories
  • Hospitals and Clinics

By Region

  • North America
  • Europe
  • Asia-Pacific
  • Latin America
  • Middle East and Africa
  • Tier 1 players- established companies in the market with a major market share
  • Tier 2 players
  • Emerging players which are growing rapidly
  • New Entrants
  • Growth prospects
  • SWOT analysis
  • Key trends
  • Key data-points affecting market growth
  • To provide with an exhaustive analysis on the Rare Disease Genetic Testing Market By Disease Type, By Technology, By Specialty, By End User and By Region.
  • To cater comprehensive information on factors impacting market growth (drivers, restraints, opportunities, and industry-specific restraints)
  • To evaluate and forecast micro-markets and the overall market
  • To predict the market size, in key regions— North America, Europe, Asia Pacific, Latin America and Middle East and Africa.
  • To record and evaluate competitive landscape mapping- Disease Type launches, technological advancements, mergers and expansions
  • We have a flexible delivery model and you can suggest changes in the scope/table of content as per your requirement
  • The customization Mobility Care offered are free of charge with purchase of any license of the report
  • You can directly share your requirements/changes to the current table of content to: sales@futurewiseresearch.com

Table of Contents


  • 1.   Market Introduction
    •   1. Objectives of the Study
        2. Market Definition
        3. Market Scope
         3.1. Years Considered for the Study
         3.2. Market Covered
        4. Currency
        5. Limitations
        6. Stakeholders
  • 2.   Research Methodology
    •   1. Research Data
         1.1. Secondary Data
          1.1.1. Key Data from Secondary Sources
         1.2. Primary Data
          1.2.1. Key Data from Primary Sources
        2. Market Size Estimation
        3. Market Breakdown and Data Triangulation
        4. Assumptions for the Study
  • 3.   Executive Summary
    •   1. Market Outlook
        2. Segment Outlook
        3. Competitive Insights
  • 4.   Rare Disease Genetic Testing Market Variables, Trends and Scope
    •   1. Market Lineage Outlook
        2. Penetration and Growth Prospect Mapping
        3. Industry Value Chain Analysis
        4. Cost Analysis Breakdown
        5. Technology Overview
        6. Regulatory Framework
         6.1. Reimbursement Framework
         6.2. Standards and Compliances

  • 5.   Market Overview
    •   1. Market Dynamics
         1.1. Market Driver Analysis
          1.1.1. Increasing focus of Rare Disease Genetic Testing Market Companies on Brand Protection
          1.1.2. Untapped Opportunities in Emerging Regions
         1.2. Market Restraint Analysis
          1.2.1. High Cost Associated with Implementation of Predictive Analysis
         1.3. Industry Challenges
          1.3.1. Presence of Ambiguous Regulatory Framework
  • 6.   Rare Disease Genetic Testing Market Analysis Tools
    •   1. Industry Analysis - Porter’s
         1.1. Supplier Power
         1.2. Buyer Power
         1.3. Substitution Threat
         1.4. Threat from New Entrants
         1.5. Competitive Rivalry
        2. Pestel Analysis
         2.1. Political Landscape
         2.2. Environmental Landscape
         2.3. Social Landscape
         2.4. Technology Landscape
         2.5. Legal Landscape
        3. Major Deals And Strategic Alliances Analysis
         3.1. Joint Ventures
         3.2. Mergers and Acquisitions
         3.3. Licensing and Partnership
         3.4. Technology Collaborations
         3.5. Strategic Divestments
        4. Market Entry Strategies
        5. Case Studies
  • 7.   Rare Disease Genetic Testing Market, By Disease Type Historical Analysis and Forecast 2023-2031 (USD Million)
    •   1. Neurological Disorders
        2. Immunological Disorders
        3. Hematology Diseases
        4. Endocrine and Metabolism Diseases
        5. Cancer
        6. Musculoskeletal Disorders
        7. Cardiovascular Disorders (CVDs)
        8. Dermatology Disease
        9. Others

  • 8.   Rare Disease Genetic Testing Market, By Technology Historical Analysis and Forecast 2023-2031 (USD Million)
    •   1. Next-Generation Sequencing (NGS)
         1.1. Whole Exome Sequencing (WES)
         1.2. Whole Genome Sequencing (WGS)
        2.Array Technology
        3.PCR-based Testing
        4.FISH
        5.Sanger Sequencing
        6.Karyotyping

  • 9.   Rare Disease Genetic Testing Market, By Specialty Historical Analysis and Forecast 2023-2031 (USD Million)
    •   1. Molecular Genetic Tests
        2. Chromosomal Genetic Tests
        3. Biochemical Genetic Tests

  • 10.   Rare Disease Genetic Testing Market, By End User Historical Analysis and Forecast 2023-2031 (USD Million)
    •   1. Research Laboratories and CROs
        2. Diagnostic Laboratories
        3. Hospitals and Clinics

  • 11.   North America Rare Disease Genetic Testing Market Analysis 2017-2022 and Forecast 2023-2031 (USD Million)
    •   1. Introduction
        2. Historical Market Size (USD Million) Analysis By Country, 2017-2022
         2.1. U.S.A
         2.2. Canada
         2.3. Mexico
        3. Market Size (USD Million) Forecast for North America 2023-2031

  • 12.   Latin America Rare Disease Genetic Testing Market Analysis 2017-2022 and Forecast 2023-2031 (USD Million)
    •   1. Introduction
        2. Historical Market Size (USD Million) Analysis By Country, 2017-2022
         2.1. Brazil
         2.2. Venezuela
         2.3. Argentina
         2.4. Rest of Latin America
        3. Market Size (USD Million) Forecast for Latin America 2023-2031

  • 13.   Europe Rare Disease Genetic Testing Market Analysis 2017-2022 and Forecast 2023-2031 (USD Million)
    •   1. Introduction
        2. Historical Market Size (USD Million) Analysis By Country, 2017-2022
         2.1. Germany
         2.2. U.K
         2.3. France
         2.4. Italy
         2.5. Spain
         2.6. Russia
         2.7. Poland
         2.8. Rest of Europe
        3. Market Size (USD Million) Forecast for Europe 2023-2031

  • 14.   Asia Pacific Rare Disease Genetic Testing Market Analysis 2017-2022 and Forecast 2023-2031 (USD Million)
    •   1. Introduction
        2. Historical Market Size (USD Million) Analysis By Country, 2017-2022
         2.1. Japan
         2.2. China
         2.3. India
         2.4. Australia and New Zealand
         2.5. ASEAN
         2.6. Rest of Asia Pacific
        3. Market Size (USD Million) Forecast for Asia Pacific 2023-2031

  • 15.   Middle East and Africa Rare Disease Genetic Testing Market Analysis 2017-2022 and Forecast 2023-2031 (USD Million)
    •   1. Introduction
        2. Historical Market Size (USD Million) Analysis By Country, 2017-2022
         2.1. GCC
         2.2. Israel
         2.3. South Africa
         2.4. Rest of MEA
        3. Market Size (USD Million) Forecast for MEA 2023-2031

  • 16.   Market Share Analysis and Competitive Landscape
    •   1. Global Landscape - Key Players, Revenue and Presence
        2. Global Share Analysis - Key Players (Tier 1, Tier 2, Tier 3)
        3. Global Emerging Companies
        4. North America - Market Share Analysis and Key Regional Players
        5. Europe - Market Share Analysis and Key Regional Players
        6. Asia Pacific - Market Share Analysis and Key Regional Players
        7. Global Key Player - Growth Matrix
  • 17.   Company Profiles (Competition Dashboard, Competitors Deep Dive, Products Offered and Financial Layouts)
    •    1. Quest Diagnostics Inc.
         1.1. Company Overview
         1.2. Disease Type Portfolio
         1.3. SWOT Analysis
         1.4. Financial Overview
         1.5. Strategic Overview
        2. Centogene N.V.
         2.1. Company Overview
         2.2. Disease Type Portfolio
         2.3. SWOT Analysis
         2.4. Financial Overview
         2.5. Strategic Overview
        3. Invitae Corporation
         3.1. Company Overview
         3.2. Disease Type Portfolio
         3.3. SWOT Analysis
         3.4. Financial Overview
         3.5. Strategic Overview
        4. 3billion, Inc.
         4.1. Company Overview
         4.2. Disease Type Portfolio
         4.3. SWOT Analysis
         4.4. Financial Overview
         4.5. Strategic Overview
        5. Arup Laboratories
         5.1. Company Overview
         5.2. Disease Type Portfolio
         5.3. SWOT Analysis
         5.4. Financial Overview
         5.5. Strategic Overview
        6. Eurofins Scientific
         6.1. Company Overview
         6.2. Disease Type Portfolio
         6.3. SWOT Analysis
         6.4. Financial Overview
         6.5. Strategic Overview
        7. Strand Life Sciences
         7.1. Company Overview
         7.2. Disease Type Portfolio
         7.3. SWOT Analysis
         7.4. Financial Overview
         7.5. Strategic Overview
        8. Ambry Genetics
         8.1. Company Overview
         8.2. Disease Type Portfolio
         8.3. SWOT Analysis
         8.4. Financial Overview
         8.5. Strategic Overview
        9. Perkin Elmer, Inc.
         9.1. Company Overview
         9.2. Disease Type Portfolio
         9.3. SWOT Analysis
         9.4. Financial Overview
         9.5. Strategic Overview
        10. Macrogen, Inc.
         10.1. Company Overview
         10.2. Disease Type Portfolio
         10.3. SWOT Analysis
         10.4. Financial Overview
         10.5. Strategic Overview
        11. Baylor Genetics
         11.1. Company Overview
         11.2. Disease Type Portfolio
         11.3. SWOT Analysis
         11.4. Financial Overview
         11.5. Strategic Overview
        12. Color Genomics, Inc.
         12.1. Company Overview
         12.2. Disease Type Portfolio
         12.3. SWOT Analysis
         12.4. Financial Overview
         12.5. Strategic Overview
        13. Health Network Laboratories
         13.1. Company Overview
         13.2. Disease Type Portfolio
         13.3. SWOT Analysis
         13.4. Financial Overview
         13.5. Strategic Overview
        14. Preventiongenetics
         14.1. Company Overview
         14.2. Disease Type Portfolio
         14.3. SWOT Analysis
         14.4. Financial Overview
         14.5. Strategic Overview
        15. Progenity, Inc.
         15.1. Company Overview
         15.2. Disease Type Portfolio
         15.3. SWOT Analysis
         15.4. Financial Overview
         15.5. Strategic Overview
        16. Coopersurgical, Inc.
         16.1. Company Overview
         16.2. Disease Type Portfolio
         16.3. SWOT Analysis
         16.4. Financial Overview
         16.5. Strategic Overview
        17. Fulgent Genetics Inc.
         17.1. Company Overview
         17.2. Disease Type Portfolio
         17.3. SWOT Analysis
         17.4. Financial Overview
         17.5. Strategic Overview
        18. Myriad Genetics, Inc.
         18.1. Company Overview
         18.2. Disease Type Portfolio
         18.3. SWOT Analysis
         18.4. Financial Overview
         18.5. Strategic Overview
        19. Laboratory Corporation Of America Holdings
         19.1. Company Overview
         19.2. Disease Type Portfolio
         19.3. SWOT Analysis
         19.4. Financial Overview
         19.5. Strategic Overview
        20. Opko Health, Inc.
         20.1. Company Overview
         20.2. Disease Type Portfolio
         20.3. SWOT Analysis
         20.4. Financial Overview
         20.5. Strategic Overview

  • 18.   Pre and Post COVID-19 Impact
    •   1. Positive influence on the healthcare industry
        2. The financial disruption of the manufacturing sector
        3. Impact of COVID-19 on emerging companies
        4. Significant mandates in the healthcare regulations initiated by administrations
        5. The overall economic slowdown of the developing and developed nations
  • 19.   FutureWise SME Key Takeaway Points for Client
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