The Rare Disease Genetic Testing Market is projected to reach USD 3.80 billion by 2030 from USD 1.15 billion in 2022, at a CAGR of 16.06% during the forecast period.

Market Segmentation & Coverage:

This research report analyzes various sub-markets, forecasts revenues, and examines emerging trends in each category to provide a comprehensive outlook on the Rare Disease Genetic Testing Market.

  • Based on Disease Type, market is studied across Cancer, Cardiovascular Disorders, Dermatology Diseases, Endocrine & Metabolism Diseases, Hematology Diseases, Immunological Disorders, Musculoskeletal Disorders, and Neurological Disorders. The Endocrine & Metabolism Diseases commanded largest market share of 15.43% in 2022, followed by Musculoskeletal Disorders.

  • Based on Technology, market is studied across Array Technology, FISH, Karyotyping, Next Generation Sequencing, PCR - Based Testing, and Sanger Sequencing. The Next Generation Sequencing is further studied across Whole Exome Sequencing and Whole Genome Sequencing. The Next Generation Sequencing commanded largest market share of 29.12% in 2022, followed by PCR - Based Testing.

  • Based on Specialty, market is studied across Biochemical Genetic Tests, Chromosomal Genetic Tests, and Molecular Genetic Tests. The Biochemical Genetic Tests commanded largest market share of 34.34% in 2022, followed by Molecular Genetic Tests.

  • Based on End-User, market is studied across Diagnostic Laboratories, Hospitals & Clinics, and Research Laboratories & CROs. The Diagnostic Laboratories commanded largest market share of 41.23% in 2022, followed by Research Laboratories & CROs.

  • Based on Region, market is studied across Americas, Asia-Pacific, and Europe, Middle East & Africa. The Americas is further studied across Argentina, Brazil, Canada, Mexico, and United States. The United States is further studied across California, Florida, Illinois, New York, Ohio, Pennsylvania, and Texas. The Asia-Pacific is further studied across Australia, China, India, Indonesia, Japan, Malaysia, Philippines, Singapore, South Korea, Taiwan, Thailand, and Vietnam. The Europe, Middle East & Africa is further studied across Denmark, Egypt, Finland, France, Germany, Israel, Italy, Netherlands, Nigeria, Norway, Poland, Qatar, Russia, Saudi Arabia, South Africa, Spain, Sweden, Switzerland, Turkey, United Arab Emirates, and United Kingdom. The Americas commanded largest market share of 40.65% in 2022, followed by Europe, Middle East & Africa.

Market Statistics:

The report provides market sizing and forecasts across 7 major currencies - USD, EUR, JPY, GBP, AUD, CAD, and CHF; multiple currency support helps organization leaders to make well-informed decisions. In this report, 2018 to 2021 are considered as historical years, 2022 is base year, 2023 is estimated year, and years from 2024 to 2030 are considered as forecast period.

FPNV Positioning Matrix:

The FPNV Positioning Matrix is an indispensable tool for assessing the Rare Disease Genetic Testing Market. It comprehensively evaluates vendors, analyzing key metrics related to Business Strategy and Product Satisfaction. This enables users to make informed decisions tailored to their specific needs. Through advanced analysis, vendors are categorized into four distinct quadrants, each representing a different level of success: Forefront (F), Pathfinder (P), Niche (N), or Vital (V). Be assured that this insightful framework empowers decision-makers to navigate the market with confidence.

Market Share Analysis:

The Market Share Analysis offers invaluable insights into the vendor landscape Rare Disease Genetic Testing Market. By evaluating their impact on overall revenue, customer base, and other key metrics, we provide companies with a comprehensive understanding of their performance and the competitive environment they confront. This analysis also uncovers the level of competition in terms of market share acquisition, fragmentation, dominance, and industry consolidation during the study period.

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..

The report offers valuable insights on the following aspects:

  1. Market Penetration: It provides comprehensive information about key players’ market dynamics and offerings.
  2. Market Development: In-depth analysis of emerging markets and penetration across mature market segments, highlighting lucrative opportunities.
  3. Market Diversification: Detailed information about new product launches, untapped geographies, recent developments, and investments.
  4. Competitive Assessment & Intelligence: Exhaustive assessment of market shares, strategies, products, certifications, regulatory approvals, patent landscape, and manufacturing capabilities of leading players.
  5. Product Development & Innovation: 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 for the Rare Disease Genetic Testing Market?
  2. Which products, segments, applications, and areas hold the highest investment potential in the Rare Disease Genetic Testing Market?
  3. What is the competitive strategic window for identifying opportunities in the Rare Disease Genetic Testing Market?
  4. What are the latest technology trends and regulatory frameworks in the Rare Disease Genetic Testing Market?
  5. What is the market share of the leading vendors in the Rare Disease Genetic Testing Market?
  6. Which modes and strategic moves are suitable for entering the Rare Disease Genetic Testing Market?