Report cover image

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, Asi

Publisher Polaris Market Research & Consulting LLP
Published Apr 01, 2025
Length 180 Pages
SKU # PLRS20077003

Description

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

Table of Contents

180 Pages
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

Pricing

Currency Rates
How Do Licenses Work?

How Do Licenses Work?

The primary function of a report license is to define how many people within a company are authorized to use the purchased report. This is separate to how a report might be delivered. Unless specifically identified otherwise, the purchase option is Single User. Below is a helpful description of that license, along with a sampling of others most commonly offered.

  • This license allows only one user to have access to and to use/read the report. It is not one user at a time or one user group; it is an individual who will be reading and utilizing the report.

  • This license allows for the entire purchasing company to read and use the report. This is the license level that would allow for a report to be placed on an internal company shared drive for access by all employees of that direct company. This license does not extend to parent or sister company use.

  • This license is designed to allow an entire department within a company full access to a report. The departmental license is a great option for companies that have more than one location and the department is spread out all over the country/world

  • This license is for companies that have one location where they want the report to be accessible by all employees within that physical location.

  • This is the most flexible of the licensing options. Some publishers will allow you to get a license for a preset number of people (typically 5). These licenses are ideal for small work groups.

License options are at the discretion of each publisher. As such, not all licenses indicated above are available for every product. If you are uncertain of the best license for your needs or would like a license that is not proactively available, please contact us and we will be happy to assist.

Head shot

Questions or Comments?

Our team has the ability to search within reports to verify it suits your needs. We can also help maximize your budget by finding sections of reports you can purchase.
Chat Now
Contact Us