Rare Disease Genetic Testing Market Size Worth USD 3,790.38 Million by 2034 | CAGR: 13.2%

The global rare disease genetic testing market size is expected to reach USD 3,790.38 million by 2034, according to a new study by Polaris Market Research. The report “Rare Disease Genetic Testing Market Size, Share, Trends, Industry Analysis Report: By Technology, Speciality (Molecular Genetic Tests, Chromosomal Genetic Tests, and Biochemical Genetic Tests), Disease Type, End Use, and Region (North America, Europe, Asia Pacific, Latin America, and Middle East & Africa) – Market Forecast, 2025–2034” gives a detailed insight into current market dynamics and provides analysis on future market growth.

The rising rare disease genetic testing market demand is attributed to an increasing need for early and accurate diagnosis of rare genetic disorders. Advancements in next-generation sequencing (NGS) and other molecular diagnostic technologies have enhanced the efficiency and precision of genetic testing. In 2024, North America dominated the market, whereas the market in Asia Pacific is projected to witness the fastest growth, supported by rising investments in research and healthcare infrastructure. The growing prevalence of rare cardiovascular diseases, hereditary cancers, and metabolic disorders has further propelled the need for genetic testing. Moreover, companies are focusing on technological advancements, strategic collaborations, and regulatory approvals to expand their market presence globally. Additionally, the rising adoption of artificial intelligence (AI) in genomic research is streamlining disease detection, significantly impacting rare disease genetic testing market expansion.

Government initiatives and regulatory support are boosting innovation and encouraging the integration of genetic testing into routine healthcare. Further, the growing awareness among healthcare providers and patients regarding the benefits of genetic testing has led to wider adoption of rare disease genetic testing.

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Europe’s genetic testing market is experiencing moderate growth due to the rising prevalence of chronic diseases, an ageing population, and increasing demand for early disease detection and personalized medicine. The region’s strong presence of global companies and research organizations, along with growing R&D activities, particularly in the UK, further fuels market growth. Moreover, government and industry efforts, including the European Commission's cancer initiatives and partnerships with companies such as Genetic Analysis AS and Blueprint Genetics, are driving rare disease genetic testing market growth.

Rare Disease Genetic Testing Market Report Highlights

• In terms of technology, the PCR-based testing segment is expected to grow at the fastest rate during the forecast period, driven by its high sensitivity, rapid turnaround time, and increasing applications in diagnosing rare genetic disorders.
• Based on end use, the diagnostic laboratories segment held the largest rare disease genetic testing market share due to the increasing demand for specialized genetic testing services, advanced diagnostic capabilities, and the growing adoption of next-generation sequencing (NGS) and PCR-based tests.
• In 2024, North America accounted for the largest share of the rare disease genetic testing market revenue, driven by the increasing prevalence of genetic disorders, rising adoption of advanced diagnostic technologies, and strong presence of key market players.
• The Asia Pacific rare disease genetic testing market is expected to witness the highest growth rate during the forecast period due to the growing prevalence of rare genetic disorders among the elderly generation.
• A few of the global key market players are 3billion, Inc., Ambry Genetics, Baylor Genetics, Blueprint Genetics (Quest Diagnostics), Centogene N.V., Eurofins Scientific, GeneDx, LLC, Genomenon, Invitae Corporation, Revvity.

Polaris Market Research has segmented the rare disease genetic testing market report on the basis of technology, speciality, disease type, end use, and region:

By Technology Outlook (Revenue, USD Million, 2020–2034)

• Next-Generation Sequencing
• Array Technology
• PCR-Based Testing
• FISH
• Sanger Sequencing
• Karyotyping

By Speciality Outlook (Revenue, USD Million, 2020–2034)

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

By Disease Type Outlook (Revenue, USD Million, 2020–2034)

• Neurological Disease
• Immunological Disorders
• Hematology Diseases
• Endocrine & Metabolism Diseases
• Cancer
• Musculoskeletal Disorders
• Cardiovascular Disorders
• Dermatology Disease
• Others

By End Use Outlook (Revenue, USD Million, 2020–2034)

• Research Laboratories & CROs
• Hospitals & Clinics
• Diagnostic Laboratories

By Regional Outlook (Revenue, USD Million, 2020–2034)

• North America
  • US
  • Canada
• Europe
  • Germany
  • France
  • UK
  • Italy
  • Spain
  • Netherlands
  • Russia
  • Rest of Europe
• Asia Pacific
  • China
  • Japan
  • India
  • Malaysia
  • South Korea
  • Indonesia
  • Australia
  • Vietnam
  • Rest of Asia Pacific
• Middle East & Africa
  • Saudi Arabia
  • UAE
  • Israel
  • South Africa
  • Rest of Middle East & Africa
• Latin America
  • Mexico
  • Brazil
  • Argentina
  • Rest of Latin America

Rare Disease Genetic Testing Market Report Scope