Rare Disease Genetic Testing Market Set for Strong Growth to Reach USD$ 2.2 billion by 2030, North America's Lead by 46.8% Market Share | Leading Companies - Arup Laboratories, Eurofins Scientific, Strand Life Sciences, Ambry Genetics, Perkin Ebmer In

Rare Disease Genetic Testing Market reached USD$ 0.8 billion in 2022 and is projected to witness lucrative growth by reaching up to USD$ 2.2 billion by 2030. The global rare disease genetic testing market is expected to exhibit a CAGR of 13.7% during the forecast period (2024-2031).

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United States: Recent Industry Developments

✅ November 2025: Illumina expanded its rare disease sequencing portfolio with enhanced whole-genome analysis tools.

✅ October 2025: Invitae strengthened partnerships with U.S. hospitals to improve early diagnosis of inherited rare disorders.

✅ September 2025: The FDA supported broader adoption of next-generation sequencing (NGS) tests for pediatric rare diseases.

Japan: Recent Industry Developments

✅ November 2025: Takeda collaborated with genomic research institutes to advance precision diagnostics for rare genetic conditions.

✅ October 2025: Japanese laboratories increased the use of AI-driven bioinformatics platforms for rare disease interpretation.

✅ September 2025: Government-backed initiatives promoted nationwide access to genetic testing for undiagnosed rare diseases.

GCC: Recent Industry Developments

✅ November 2025: Saudi Arabia expanded national genomic programs to address inherited rare diseases prevalent in the region.

✅ October 2025: UAE healthcare providers adopted advanced NGS-based genetic testing in tertiary care hospitals.

✅ September 2025: Public-private collaborations strengthened rare disease screening and genetic counseling services across the GCC.

Key Players:

Quest Diagnostics Inc, Invital Corporation, 3 billion Inc, Arup Laboratories, Eurofins Scientific, Strand Life Sciences, Ambry Genetics, Perkin Ebmer In and Centogen N.V.

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:

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

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

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

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

Regional Analysis for Rare Disease Genetic Testing 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: Sets the stage by outlining the report's coverage, summarizing key market segments by region, product type, and application. Presents a snapshot of market sizes, growth potential across segments, and anticipated industry evolution both short and long term.

Chapter 2: Highlights pivotal market insights and uncovers the most significant emerging trends driving change within the industry.

Chapter 3: Offers an in-depth look at the competitive landscape among Rare Disease Genetic Testing producers, including revenue shares, strategic moves, and recent mergers and acquisitions.

Chapter 4: Presents comprehensive profiles of the market's key players, delving into details such as revenue, profit margins, product portfolios, and company milestones.

Chapters 5 & 6: Analyze Rare Disease Genetic Testing revenue at both regional and country levels, providing quantitative breakdowns of market sizes, growth opportunities, and development prospects worldwide.

Chapter 7: Focuses on different market segments by type, examining their individual sizes and potential, guiding readers toward high-impact, untapped market areas.

Chapter 8: Explores segmentation by application, evaluating industry growth potential in various downstream markets and pinpointing promising sectors for expansion.

Chapter 9: Provides a thorough review of the industry's supply chain mapping out both upstream and downstream activities.

Chapter 10: Concludes with a summary of the report's key findings and highlights the most critical takeaways for industry stakeholders.

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FAQ's

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

A: In 2022, the Rare Disease Genetic Testing Market was valued at USD$ 0.8 billion in 2022, reflecting its strong industry presence.

Q2: How large is the Rare Disease Genetic Testing Market expected to be by 2030?

A: By 2030, industry forecasts suggest the Rare Disease Genetic Testing Market will grow to around USD$ 2.2 billion, demonstrating significant expansion.

Q3: What is the growth rate of the Rare Disease Genetic Testing Market?

A: The market is projected to expand at a compound annual growth rate (CAGR) of % during the forecast period from 2025 to 2033.

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