Global Rare Disease Genetic Testing Market by Disease Type (Cancer, Cardiovascular Disorders, Dermatology Diseases), Technology (Array Technology, FISH, Karyotyping), Specialty, End-User - Forecast 2023-2030

The Rare Disease Genetic Testing Market size was estimated at USD 1.15 billion in 2022, USD 1.33 billion in 2023, and is expected to grow at a CAGR of 16.06% to reach USD 3.80 billion by 2030.

FPNV Positioning Matrix

The FPNV Positioning Matrix is pivotal in evaluating the Rare Disease Genetic Testing Market. It offers a comprehensive assessment of vendors, examining key metrics related to Business Strategy and Product Satisfaction. This in-depth analysis empowers users to make well-informed decisions aligned with their requirements. Based on the evaluation, the vendors are then categorized into four distinct quadrants representing varying levels of success: Forefront (F), Pathfinder (P), Niche (N), or Vital (V).

Market Share Analysis

The Market Share Analysis is a comprehensive tool that provides an insightful and in-depth examination of the current state of vendors in the Rare Disease Genetic Testing Market. By meticulously comparing and analyzing vendor contributions in terms of overall revenue, customer base, and other key metrics, we can offer companies a greater understanding of their performance and the challenges they face when competing for market share. Additionally, this analysis provides valuable insights into the competitive nature of the sector, including factors such as accumulation, fragmentation dominance, and amalgamation traits observed over the base year period studied. With this expanded level of detail, vendors can make more informed decisions and devise effective strategies to gain a competitive edge in the market.

Key Company Profiles

The report delves into recent significant developments in the Rare Disease Genetic Testing Market, highlighting leading vendors and their innovative profiles. These include 3billion, Inc., Ambry Genetics Corporation, Arup Laboratories, Baylor Genetics, Blueprint Genetics Oy, Caris Life Sciences, CENTOGENE N.V., F. Hoffmann-La Roche Ltd., Fulgent Genetics, Inc., GeneDx, LLC, Genomelink, Inc., Helix OpCo, LLC, Illumina, Inc., Integrated DNA Technologies, Inc., Invitae Corporation, Laboratory Corporation Of America Holdings, Macrogen, Inc., Nonacus Limited, PerkinElmer Inc., Progenity, Inc., QIAGEN N.V., Quest Diagnostics Incorporated, Realm IDX, Inc., Sanofi S.A., The Cooper Companies, Inc., and Thermo Fisher Scientific Inc.

Market Segmentation & Coverage

This research report categorizes the Rare Disease Genetic Testing Market to forecast the revenues and analyze trends in each of the following sub-markets:

• Disease Type
  • Cancer
  • Cardiovascular Disorders
  • Dermatology Diseases
  • Endocrine & Metabolism Diseases
  • Hematology Diseases
  • Immunological Disorders
  • Musculoskeletal Disorders
  • Neurological Disorders
• Technology
  • Array Technology
  • FISH
  • Karyotyping
  • Next Generation Sequencing
    • Whole Exome Sequencing
    • Whole Genome Sequencing
  • PCR - Based Testing
  • Sanger Sequencing
• Specialty
  • Biochemical Genetic Tests
  • Chromosomal Genetic Tests
  • Molecular Genetic Tests
• End-User
  • Diagnostic Laboratories
  • Hospitals & Clinics
  • Research Laboratories & CROs

• Region
  • Americas
    • Argentina
    • Brazil
    • Canada
    • Mexico
    • United States
      • California
      • Florida
      • Illinois
      • New York
      • Ohio
      • Pennsylvania
      • Texas
  • Asia-Pacific
    • Australia
    • China
    • India
    • Indonesia
    • Japan
    • Malaysia
    • Philippines
    • Singapore
    • South Korea
    • Taiwan
    • Thailand
    • Vietnam
  • Europe, Middle East & Africa
    • Denmark
    • Egypt
    • Finland
    • France
    • Germany
    • Israel
    • Italy
    • Netherlands
    • Nigeria
    • Norway
    • Poland
    • Qatar
    • Russia
    • Saudi Arabia
    • South Africa
    • Spain
    • Sweden
    • Switzerland
    • Turkey
    • United Arab Emirates
    • United Kingdom

The report offers valuable insights on the following aspects

1. Market Penetration: It presents comprehensive information on the market provided by key players.
2. Market Development: It delves deep into lucrative emerging markets and analyzes the penetration across mature market segments.
3. Market Diversification: It provides detailed information on new product launches, untapped geographic regions, recent developments, and investments.
4. Competitive Assessment & Intelligence: It conducts an exhaustive assessment of market shares, strategies, products, certifications, regulatory approvals, patent landscape, and manufacturing capabilities of the leading players.
5. Product Development & Innovation: It offers intelligent insights on future technologies, R&D activities, and breakthrough product developments.

The report addresses key questions such as

1. What is the market size and forecast of the Rare Disease Genetic Testing Market?
2. Which products, segments, applications, and areas should one consider investing in over the forecast period in the Rare Disease Genetic Testing Market?
3. What are the technology trends and regulatory frameworks in the Rare Disease Genetic Testing Market?
4. What is the market share of the leading vendors in the Rare Disease Genetic Testing Market?
5. Which modes and strategic moves are suitable for entering the Rare Disease Genetic Testing Market?

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