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.
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
- Chapter 1. Overview and Scope
- 1.1 Research goal & scope
- 1.2 Market Scope
- Chapter 2. Research Methodology Overview
- 2.1 Research Methodology
- 2.2 Research Scope and Assumptions
- 2.3 Information Procurement
- 2.3.1 Purchased Database
- 2.3.2 Internal Database
- 2.3.3 Secondary Sources
- 2.3.4 Third Party Perspective
- 2.3.5 Primary Research
- 2.4 Information Analysis
- 2.4.1 Data Analysis Models
- 2.5 Market Formulation and Data Visualization
- 2.6 Data Validation and Publishing (Secondary Sources)
- Chapter 3. Executive Summary
- 3.1 Market Overview
- 3.2 Market Segmentation
- 3.2.1 Market By Technology
- 3.2.2 Market By Specialty
- 3.2.3 Market By Disease Type
- 3.2.4 Market By End-use
- 3.2.5 Geographic Overview
- Chapter 4. Rare Disease Genetic Testing Market Insights
- 4.1 Rare Disease Genetic Testing – Market Size and Growth Prospects
- 4.2 Rare Disease Genetic Testing Market Dynamics
- 4.2.1 Rare Disease Genetic Testing Market Driver and Opportunity Analysis
- 4.2.1.1 Increasing Emphasis on Early Disease Detection and Prevention
- 4.2.1.2 Growing Demand for Personalized Medicines
- 4.2.2 Rare Disease Genetic Testing Market Restraint/Challenges Analysis
- 4.2.2.1 High Cost of Genetic Testing
- 4.2.2.2 Social And Ethical Implications of Rare Genetic Testing
- 4.3 Rare Disease Genetic Testing Market- Porter’s Five Forces Analysis
- 4.4 Rare Disease Genetic Testing Market- PESTLE Analysis
- 4.5 Rare Disease Genetic Testing Market- Key Industrial Trends
- 4.5.1 Increasing Application of Rare Genetic Testing in Oncology
- 4.6 Rare Disease Genetic Testing Market- COVID-19 Impact Analysis
- Chapter 5. Rare Disease Genetic Testing Market Assessment By Technology
- 5.1 Introduction
- 5.2 Next-Generation Sequencing
- 5.2.1 Whole Exome
- 5.2.2 Whole Genome
- 5.3 Array Technology
- 5.4 PCR-based Testing
- 5.5 FISH (Fluorescent in situ hybridization)
- 5.6 Sanger Sequencing
- 5.7 Karyotyping
- Chapter 6. Rare Disease Genetic Testing Market Assessment By Specialty
- 6.1 Introduction
- 6.2 Molecular Genetic Tests
- 6.3 Chromosomal Genetic Tests
- 6.4 Biochemical, Genetic Tests
- Chapter 7. Rare Disease Genetic Testing Market Assessment By Disease Type
- 7.1 Introduction
- 7.2 Neurological Disease
- 7.3 Immunological Disorders
- 7.4 Hematology Diseases
- 7.5 Endocrine & Metabolism Diseases
- 7.6 Cancer
- 7.7 Musculoskeletal Disorders
- 7.8 Cardiovascular Disorders
- 7.9 Dermatology Disease
- 7.10 Others
- Chapter 8. Rare Disease Genetic Testing Market Assessment By End-use
- 8.1 Introduction
- 8.2 Research Laboratories & Contract Research Organizations (Cros)
- 8.3 Hospitals & Clinics
- 8.4 Diagnostic Laboratories
- Chapter 9. Rare Disease Genetic Testing Market Assessment by Geography
- 9.1 Introduction
- 9.2 NORTH AMERICA
- 9.2.1 U.S.
- 9.2.2 Canada
- 9.3 EUROPE
- 9.3.1 Germany
- 9.3.2 France
- 9.3.3 Italy
- 9.3.4 U.K
- 9.3.5 Spain
- 9.3.6 Netherlands
- 9.3.7 Russia
- 9.3.8 Rest of Europe
- 9.4 ASIA-PACIFIC
- 9.4.1 China
- 9.4.2 India
- 9.4.3 Japan
- 9.4.4 Indonesia
- 9.4.5 South Korea
- 9.4.6 Malaysia
- 9.4.7 Rest of APAC
- 9.5 LATIN AMERICA
- 9.5.1 Brazil
- 9.5.2 Argentina
- 9.5.3 Mexico
- 9.5.4 RoLATAM
- 9.6 MIDDLE EAST AND AFRICA
- 9.6.1 Saudi Arabia
- 9.6.2 South Africa
- 9.6.3 UAE
- 9.6.4 Israel
- 9.6.5 Rest of Middle East & Africa
- Chapter 10. Competitive Landscape
- 10.1 Product Development and Launches are the Best Adopted Strategy by the Companies
- 10.2 Product Launch
- 10.3 Acquisition/Agreement
- 10.4 Partnership & Collaboration
- Chapter 11. Company Profiles
- 11.1 Centogene N.V.
- 11.1.1 Business Overview
- 11.1.2 Financial Snapshot
- 11.1.3 Product Benchmarking
- 11.1.4 Recent Developments
- 11.2 3billion, Inc.
- 11.2.1 Business Overview
- 11.2.2 Product Benchmarking
- 11.2.3 Recent Developments
- 11.3 Ambry Genetics.
- 11.3.1 Business Overview
- 11.3.2 Product Benchmarking
- 11.3.3 Recent Developments
- 11.4 GeneDx, LLC
- 11.4.1 Business Overview
- 11.4.2 Financial Snapshot
- 11.4.3 Product Benchmarking
- 11.4.4 Recent Developments
- 11.5 Blueprint Genetics (Quest Diagnostics)
- 11.5.1 Business Overview
- 11.5.2 Product Benchmarking
- 11.5.3 Recent Developments
- 11.6 Invitae Corporation.
- 11.6.1 Business Overview
- 11.6.2 Financial Snapshot
- 11.6.3 Product Benchmarking
- 11.6.4 Recent Developments
- 11.7 Baylor Genetics
- 11.7.1 Business Overview
- 11.7.2 Product Benchmarking
- 11.7.3 Recent Developments
- 11.8 Eurofins Scientific
- 11.8.1 Business Overview
- 11.8.2 Financial Snapshot
- 11.8.3 Product Benchmarking
- 11.8.4 Recent Developments
- 11.9 Genomenon
- 11.9.1 Business Overview
- 11.9.2 Product Benchmarking
- 11.9.3 Recent Developments
- 11.10 Revvity
- 11.10.1 Business Overview
- 11.10.2 Financial Snapshot
- 11.10.3 Product Benchmarking
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