United States Rare Disease Genetic Testing Market Growth (2025-2032) | Market to Reach USD 2.2 billion by 2030, Challenges & Investment Opportunities

DataM Intelligence has published a new research report on "Rare Disease Genetic Testing Market Size 2025". The report explores comprehensive and insightful Information about various key factors like Regional Growth, Segmentation, CAGR, Business Revenue Status of Top Key Players and Drivers. The purpose of this report is to provide a telescopic view of the current market size by value and volume, opportunities, and development status.

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Latest M & A

• SeqOne acquires Congenica - SeqOne completed the acquisition of UK genomics software and clinical interpretation specialist Congenica, strengthening its AI‐powered genetic analysis platform for rare and inherited disease diagnostics and expanding its global footprint (deal announced Sep 2 2025).

• Natera acquires Foresight Diagnostics - Natera closed an all‐stock acquisition of Foresight Diagnostics (valued at $275 M upfront with up to $450 M total) to integrate its ultrasensitive phased‐variant ctDNA technology into Natera's precision MRD/genetic testing offerings

Key Players:

Quest Diagnostics Inc, Arup Laboratories, Strand Life Sciences, Ambry Genetics, 3billion, Inc., Macrogen Inc, Color Genomics Inc, Centogene NV, Invitae Corporation and Myriad Genetics Inc.

Key Development:

January 2026 Developments

Japan:

• Japan's Ministry of Health approves expanded reimbursement for rare disease genetic tests.

• Collaboration announced between leading genomics firms and academic centers for rare disease data sharing.

USA:

• FDA grants breakthrough device designation for a novel genetic testing platform targeting ultra-rare diseases.

• Major genetic testing companies announce strategic partnerships to enhance rare disease diagnostic panels.

Europe:

• European Medicines Agency (EMA) updates guidelines facilitating faster approval of genetic diagnostic tools for rare diseases.

• Pan-European consortium launches a rare disease genetic data repository to accelerate research.

December 2025 Developments

Japan:

• Launch of nationwide pilot programs integrating genetic testing into rare disease patient care pathways.

• Japanese biotech firms invest in AI-powered analytics for improved rare disease variant detection.

USA:

• Increase in insurance coverage announced for genetic testing in rare pediatric disorders.

• Key market players release advanced next-generation sequencing (NGS) panels optimized for rare diseases.

Europe:

• Expansion of cross-border genetic testing collaborations under EU health initiatives.

• Introduction of AI-based software tools to enhance interpretation of rare genetic variants.

November 2025 Developments
Japan:

Regulatory approvals granted for home-based genetic testing kits focused on rare hereditary conditions.

New funding announced to support rare disease genetic testing research projects.

USA:

Launch of large-scale patient registries to improve genetic data collection in rare diseases.

Biotech startups receive funding boosts to develop faster, cost-effective rare disease genetic tests.

Europe:

Several European countries increase public awareness campaigns on the benefits of genetic testing for rare diseases.

Integration of genetic testing services into national rare disease centers improves diagnostic rates.

Growth Forecast Projected:

The Global Rare Disease Genetic Testing Market is anticipated to rise at a considerable rate during the forecast period, between 2025 and 2032. In 2024, the market is growing at a steady rate, and with the rising adoption of strategies by key players, the market is expected to rise over the projected horizon.

Research Process:

Both primary and secondary data sources have been used in the global Rare Disease Genetic Testing Market research report. During the research process, a wide range of industry-affecting factors are examined, including governmental regulations, market conditions, competitive levels, historical data, market situation, technological advancements, upcoming developments, in related businesses, as well as market volatility, prospects, potential barriers, and challenges.

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Key Segments:

By Type: Neurological Disorders, Endocrine, Metabolism Diseases, Hematology Diseases, Immunological Disorders, Musculoskeletal, Others

By Technology: Next-Generation Sequencing, FISH, Array Technology, PCR-Based Testing, Sanger Sequencing, Karyotyping, Others

By Specialty: Molecular Genetic Tests, Chromosomal Genetic Tests, Biochemical Genetic Tests

By End User: Hospitals, Research Laboratories, Diagnostic Laboratories, Others

Regional Analysis for Market:

⇥ North America (U.S., Canada, Mexico)

⇥ Europe (U.K., Italy, Germany, Russia, France, Spain, The Netherlands and Rest of Europe)

⇥ Asia-Pacific (India, Japan, China, South Korea, Australia, Indonesia Rest of Asia Pacific)

⇥ South America (Colombia, Brazil, Argentina, Rest of South America)

⇥ Middle East & Africa (Saudi Arabia, U.A.E., South Africa, Rest of Middle East & Africa)

Benefits of the Report:

Chapter 1: Lays the foundation by defining the scope of the report, highlighting core market segments across regions, product types, and applications. It delivers a clear snapshot of current market size, growth potential, and how the industry is expected to evolve in both the near and long term.

Chapter 2: Spotlights the most impactful market insights, unveiling the transformative trends and forces shaping the future of the industry.

Chapter 3: Provides a deep dive into the competitive landscape of , covering revenue shares, strategic initiatives, and notable mergers & acquisitions that are reshaping the market.

Chapter 4: Presents detailed company profiles of leading players featuring financial performance, product portfolios, profit margins, and key milestones that set them apart in the industry.

Chapters 5 & 6: Break down revenue analysis at both regional and country levels, offering precise data on market size, growth drivers, and expansion opportunities across global markets.

Chapter 7: Analyzes the market by product type, spotlighting segment-specific opportunities and helping stakeholders identify untapped, high-growth areas.

Chapter 8 :Explores the market through application-based segmentation, assessing demand across industries and pinpointing downstream sectors with the strongest potential for growth.

Chapter 9: Maps the industry's supply chain in detail, tracing upstream and downstream activities to provide clarity on value creation across the ecosystem.

Chapter 10: Wraps up with a concise summary of the report's key insights distilling the most critical findings and strategic takeaways for decision-makers and stakeholders.

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FAQ

Q1: What is the current size of the Rare Disease Genetic Testing Market?

A: The Rare Disease Genetic Testing Market was valued at USD 0.8 billion in 2022 and is forecasted to reach USD 2.2 billion by 2030

Q2: How rapidly will the Market expand?

A: The Rare Disease Genetic Testing market is projected to grow at a CAGR of 13.7% between 2024 and 2031.

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