Rare Disease Genetic Testing Market - Global Industry Size, Share, Trends, Opportunity, and Forecast, Segmented By Disease Type, By Speciality, By Technology, By End User, By Region and Competition, 2020-2030F

Description

The Global Rare Disease Genetic Testing Market was valued at USD 881.23 million in 2024 and is projected to reach USD 1411.30 million by 2030, growing at a CAGR of 8.14%. This market focuses on diagnostic solutions that analyze genetic mutations responsible for rare conditions-diseases that affect a small percentage of the population but often have a genetic origin. Genetic testing plays a crucial role in identifying these mutations, aiding early diagnosis and personalized treatment strategies. Techniques such as next-generation sequencing (NGS), whole exome, and genome sequencing have significantly enhanced the accuracy and efficiency of testing. These advancements reduce diagnostic odysseys for patients, helping identify the root causes of symptoms that previously remained undetected. Rare disease genetic testing spans multiple types-from molecular to chromosomal and gene expression tests-and supports physicians in managing complex conditions more effectively.

Market Overview
Forecast Period	2026-2030
Market Size 2024	USD 881.23 Million
Market Size 2030	USD 1411.30 Million
CAGR 2025-2030	8.14%
Fastest Growing Segment	Research Laboratories & CROs
Largest Market	North America

Key Market Drivers

Increasing Prevalence Of Rare Disease

The growing global incidence of rare diseases is a major factor fueling the demand for genetic testing. It is estimated that 3.5% to 5.9% of the world's population-equivalent to approximately 260 to 440 million individuals-suffers from one of over 6,000 identified rare diseases. This prevalence, documented by sources like EURORDIS and Orphanet, has led to rising demand for accurate and early diagnostic tools. As awareness of rare diseases grows among healthcare professionals and the public, so does the recognition of genetic testing as a critical diagnostic aid. Genetic testing enables healthcare providers to pinpoint specific mutations, guiding more effective and personalized treatments. The adoption of precision medicine approaches-customizing care based on a patient's genetic profile-is also propelling the market. These developments are driving increased utilization of rare disease genetic testing as both a clinical and research tool.

Key Market Challenges

Diagnostic Complexity in Testing

Rare diseases are inherently complex, with diverse symptoms that can differ significantly across individuals, complicating the diagnostic process. This symptom variability often leads to delayed or inaccurate diagnoses, as many healthcare providers may lack familiarity with specific rare conditions. The absence of standardized diagnostic pathways further hampers early identification. Genetic mutations linked to rare diseases may involve multiple genes or variants, necessitating sophisticated testing methods and detailed bioinformatics analysis. Additionally, many clinicians may underutilize genetic testing due to limited exposure or lack of training in recognizing rare disease patterns. The combination of clinical heterogeneity and the need for high-end diagnostic capabilities poses ongoing challenges for the widespread adoption of genetic testing in rare disease management.

Key Market Trends

Growth of Direct-to-Consumer (DTC) Testing

Direct-to-Consumer (DTC) testing is gradually influencing the rare disease genetic testing market, although at a slower pace compared to other genetic testing sectors. DTC platforms provide consumers with easier access to their genetic data, indirectly enhancing awareness about genetic conditions, including rare diseases. While these tests may not be diagnostic, they can flag potential genetic markers related to specific disorders, prompting individuals to pursue further clinical evaluations. Some DTC companies also allow users to contribute genetic data to research databases, which can facilitate breakthroughs in rare disease research. Despite these benefits, DTC testing raises ethical and regulatory concerns regarding result interpretation and the risk of misinformation. Regulatory frameworks vary across regions, with some countries enforcing strict oversight to ensure transparency and reliability. Nonetheless, DTC testing is expanding awareness and engagement in genetics, indirectly supporting the rare disease genetic testing market's long-term growth.

Key Market Players

Centogene N.V.
Invitae Corp.
3billion, Inc.
Arup Laboratories
Eurofins Scientific
Strand Life Sciences
Ambry Genetics
Perkin Elmer, Inc.
Realm IDX, Inc.
Macrogen, Inc.
Baylor Genetics

Report Scope:

In this report, the Global Rare Disease Genetic Testing Market has been segmented into the following categories, in addition to the industry trends which have also been detailed below:

Rare Disease Genetic Testing Market, By Disease Type:

Neurological Disease
Immunological Disorders
Hematology Diseases
Endocrine & Metabolism Diseases
Cancer
Musculoskeletal Disorders
Cardiovascular Disorders (CVDs)
Dermatology Disease
Others

Rare Disease Genetic Testing Market, By Speciality:

Molecular Genetic Tests
Chromosomal Genetic Tests
Biochemical Genetic Tests

Rare Disease Genetic Testing Market, By Technology:

Next-Generation Sequencing (NGS)
Whole Exome Sequencing
Whole Genome Sequencing
Array Technology
PCR-based Testing
FISH
Sanger Sequencing
Karyotyping

Rare Disease Genetic Testing Market, By End User:

Research Laboratories & CROs
Hospitals & Clinics
Diagnostic Laboratories

Rare Disease Genetic Testing Market, By Region:

North America
- United States
- Canada
- Mexico
Asia-Pacific
- China
- India
- South Korea
- Australia
- Japan
Europe
- Germany
- France
- United Kingdom
- Spain
- Italy
South America
- Brazil
- Argentina
- Colombia
Middle East & Africa
- South Africa
- Saudi Arabia
- UAE

Competitive Landscape

Company Profiles: Detailed analysis of the major companies present in the Global Rare Disease Genetic Testing Market.

Available Customizations:

Global Rare Disease Genetic Testing Market report with the given market data, TechSci Research offers customizations according to a company's specific needs. The following customization options are available for the report:

1. Product Overview

1.1. Market Definition
1.2. Scope of the Market
- 1.2.1. Markets Covered
- 1.2.2. Years Considered for Study
- 1.2.3. Key Market Segmentations

2. Research Methodology

2.1. Objective of the Study
2.2. Baseline Methodology
2.3. Key Industry Partners
2.4. Major Association and Secondary Sources
2.5. Forecasting Methodology
2.6. Data Triangulation & Validation
2.7. Assumptions and Limitations

3. Executive Summary

3.1. Overview of the Market
3.2. Overview of Key Market Segmentations
3.3. Overview of Key Market Players
3.4. Overview of Key Regions/Countries
3.5. Overview of Market Drivers, Challenges, and Trends

4. Voice of Customer

5. Global Rare Disease Genetic Testing Market Outlook

5.1. Market Size & Forecast
- 5.1.1. By Value
5.2. Market Share & Forecast
- 5.2.1. By Disease Type (Neurological Disease, Immunological Disorders, Hematology Diseases, Endocrine & Metabolism Diseases, Cancer, Musculoskeletal Disorders, Cardiovascular Disorders (CVDs), Dermatology Disease, Others)
- 5.2.2. By Speciality (Molecular Genetic Tests, Chromosomal Genetic Tests, Biochemical Genetic Tests)
- 5.2.3. By Technology (Next-Generation Sequencing (NGS), Whole Exome Sequencing, Whole Genome Sequencing, Array Technology, PCR-based Testing, FISH, Sanger Sequencing, Karyotyping)
- 5.2.4. By End User (Research Laboratories & CROs, Hospitals & Clinics, Diagnostic Laboratories)
- 5.2.5. By Company (2024)
- 5.2.6. By Region
5.3. Market Map

6. North America Rare Disease Genetic Testing Market Outlook

6.1. Market Size & Forecast
- 6.1.1. By Value
6.2. Market Share & Forecast
- 6.2.1. By Disease Type
- 6.2.2. By Speciality
- 6.2.3. By Technology
- 6.2.4. By End User
- 6.2.5. By Country
6.3. North America: Country Analysis
- 6.3.1. United States Rare Disease Genetic Testing Market Outlook
  - 6.3.1.1. Market Size & Forecast
    - 6.3.1.1.1. By Value
  - 6.3.1.2. Market Share & Forecast
    - 6.3.1.2.1. By Disease Type
    - 6.3.1.2.2. By Speciality
    - 6.3.1.2.3. By Technology
    - 6.3.1.2.4. By End User
- 6.3.2. Mexico Rare Disease Genetic Testing Market Outlook
  - 6.3.2.1. Market Size & Forecast
    - 6.3.2.1.1. By Value
  - 6.3.2.2. Market Share & Forecast
    - 6.3.2.2.1. By Disease Type
    - 6.3.2.2.2. By Speciality
    - 6.3.2.2.3. By Technology
    - 6.3.2.2.4. By End User
- 6.3.3. Canada Rare Disease Genetic Testing Market Outlook
  - 6.3.3.1. Market Size & Forecast
    - 6.3.3.1.1. By Value
  - 6.3.3.2. Market Share & Forecast
    - 6.3.3.2.1. By Disease Type
    - 6.3.3.2.2. By Speciality
    - 6.3.3.2.3. By Technology
    - 6.3.3.2.4. By End User

7. Europe Rare Disease Genetic Testing Market Outlook

7.1. Market Size & Forecast
- 7.1.1. By Value
7.2. Market Share & Forecast
- 7.2.1. By Disease Type
- 7.2.2. By Speciality
- 7.2.3. By Technology
- 7.2.4. By End User
- 7.2.5. By Country
7.3. Europe: Country Analysis
- 7.3.1. France Rare Disease Genetic Testing Market Outlook
  - 7.3.1.1. Market Size & Forecast
    - 7.3.1.1.1. By Value
  - 7.3.1.2. Market Share & Forecast
    - 7.3.1.2.1. By Disease Type
    - 7.3.1.2.2. By Speciality
    - 7.3.1.2.3. By Technology
    - 7.3.1.2.4. By End User
- 7.3.2. Germany Rare Disease Genetic Testing Market Outlook
  - 7.3.2.1. Market Size & Forecast
    - 7.3.2.1.1. By Value
  - 7.3.2.2. Market Share & Forecast
    - 7.3.2.2.1. By Disease Type
    - 7.3.2.2.2. By Speciality
    - 7.3.2.2.3. By Technology
    - 7.3.2.2.4. By End User
- 7.3.3. United Kingdom Rare Disease Genetic Testing Market Outlook
  - 7.3.3.1. Market Size & Forecast
    - 7.3.3.1.1. By Value
  - 7.3.3.2. Market Share & Forecast
    - 7.3.3.2.1. By Disease Type
    - 7.3.3.2.2. By Speciality
    - 7.3.3.2.3. By Technology
    - 7.3.3.2.4. By End User
- 7.3.4. Italy Rare Disease Genetic Testing Market Outlook
  - 7.3.4.1. Market Size & Forecast
    - 7.3.4.1.1. By Value
  - 7.3.4.2. Market Share & Forecast
    - 7.3.4.2.1. By Disease Type
    - 7.3.4.2.2. By Speciality
    - 7.3.4.2.3. By Technology
    - 7.3.4.2.4. By End User
- 7.3.5. Spain Rare Disease Genetic Testing Market Outlook
  - 7.3.5.1. Market Size & Forecast
    - 7.3.5.1.1. By Value
  - 7.3.5.2. Market Share & Forecast
    - 7.3.5.2.1. By Disease Type
    - 7.3.5.2.2. By Speciality
    - 7.3.5.2.3. By Technology
    - 7.3.5.2.4. By End User

8. Asia-Pacific Rare Disease Genetic Testing Market Outlook

8.1. Market Size & Forecast
- 8.1.1. By Value
8.2. Market Share & Forecast
- 8.2.1. By Disease Type
- 8.2.2. By Speciality
- 8.2.3. By Technology
- 8.2.4. By End User
- 8.2.5. By Country
8.3. Asia-Pacific: Country Analysis
- 8.3.1. China Rare Disease Genetic Testing Market Outlook
  - 8.3.1.1. Market Size & Forecast
    - 8.3.1.1.1. By Value
  - 8.3.1.2. Market Share & Forecast
    - 8.3.1.2.1. By Disease Type
    - 8.3.1.2.2. By Speciality
    - 8.3.1.2.3. By Technology
    - 8.3.1.2.4. By End User
- 8.3.2. India Rare Disease Genetic Testing Market Outlook
  - 8.3.2.1. Market Size & Forecast
    - 8.3.2.1.1. By Value
  - 8.3.2.2. Market Share & Forecast
    - 8.3.2.2.1. By Disease Type
    - 8.3.2.2.2. By Speciality
    - 8.3.2.2.3. By Technology
    - 8.3.2.2.4. By End User
- 8.3.3. South Korea Rare Disease Genetic Testing Market Outlook
  - 8.3.3.1. Market Size & Forecast
    - 8.3.3.1.1. By Value
  - 8.3.3.2. Market Share & Forecast
    - 8.3.3.2.1. By Disease Type
    - 8.3.3.2.2. By Speciality
    - 8.3.3.2.3. By Technology
    - 8.3.3.2.4. By End User
- 8.3.4. Japan Rare Disease Genetic Testing Market Outlook
  - 8.3.4.1. Market Size & Forecast
    - 8.3.4.1.1. By Value
  - 8.3.4.2. Market Share & Forecast
    - 8.3.4.2.1. By Disease Type
    - 8.3.4.2.2. By Speciality
    - 8.3.4.2.3. By Technology
    - 8.3.4.2.4. By End User
- 8.3.5. Australia Rare Disease Genetic Testing Market Outlook
  - 8.3.5.1. Market Size & Forecast
    - 8.3.5.1.1. By Value
  - 8.3.5.2. Market Share & Forecast
    - 8.3.5.2.1. By Disease Type
    - 8.3.5.2.2. By Speciality
    - 8.3.5.2.3. By Technology
    - 8.3.5.2.4. By End User

9. South America Rare Disease Genetic Testing Market Outlook

9.1. Market Size & Forecast
- 9.1.1. By Value
9.2. Market Share & Forecast
- 9.2.1. By Disease Type
- 9.2.2. By Speciality
- 9.2.3. By Technology
- 9.2.4. By End User
- 9.2.5. By Country
9.3. South America: Country Analysis
- 9.3.1. Brazil Rare Disease Genetic Testing Market Outlook
  - 9.3.1.1. Market Size & Forecast
    - 9.3.1.1.1. By Value
  - 9.3.1.2. Market Share & Forecast
    - 9.3.1.2.1. By Disease Type
    - 9.3.1.2.2. By Speciality
    - 9.3.1.2.3. By Technology
    - 9.3.1.2.4. By End User
- 9.3.2. Argentina Rare Disease Genetic Testing Market Outlook
  - 9.3.2.1. Market Size & Forecast
    - 9.3.2.1.1. By Value
  - 9.3.2.2. Market Share & Forecast
    - 9.3.2.2.1. By Disease Type
    - 9.3.2.2.2. By Speciality
    - 9.3.2.2.3. By Technology
    - 9.3.2.2.4. By End User
- 9.3.3. Colombia Rare Disease Genetic Testing Market Outlook
  - 9.3.3.1. Market Size & Forecast
    - 9.3.3.1.1. By Value
  - 9.3.3.2. Market Share & Forecast
    - 9.3.3.2.1. By Disease Type
    - 9.3.3.2.2. By Speciality
    - 9.3.3.2.3. By Technology
    - 9.3.3.2.4. By End User

10. Middle East and Africa Rare Disease Genetic Testing Market Outlook

10.1. Market Size & Forecast
- 10.1.1. By Value
10.2. Market Share & Forecast
- 10.2.1. By Disease Type
- 10.2.2. By Speciality
- 10.2.3. By Technology
- 10.2.4. By End User
- 10.2.5. By Country
10.3. MEA: Country Analysis
- 10.3.1. South Africa Rare Disease Genetic Testing Market Outlook
  - 10.3.1.1. Market Size & Forecast
    - 10.3.1.1.1. By Value
  - 10.3.1.2. Market Share & Forecast
    - 10.3.1.2.1. By Disease Type
    - 10.3.1.2.2. By Speciality
    - 10.3.1.2.3. By Technology
    - 10.3.1.2.4. By End User
- 10.3.2. Saudi Arabia Rare Disease Genetic Testing Market Outlook
  - 10.3.2.1. Market Size & Forecast
    - 10.3.2.1.1. By Value
  - 10.3.2.2. Market Share & Forecast
    - 10.3.2.2.1. By Disease Type
    - 10.3.2.2.2. By Speciality
    - 10.3.2.2.3. By Technology
    - 10.3.2.2.4. By End User
- 10.3.3. UAE Rare Disease Genetic Testing Market Outlook
  - 10.3.3.1. Market Size & Forecast
    - 10.3.3.1.1. By Value
  - 10.3.3.2. Market Share & Forecast
    - 10.3.3.2.1. By Disease Type
    - 10.3.3.2.2. By Speciality
    - 10.3.3.2.3. By Technology
    - 10.3.3.2.4. By End User

11. Market Dynamics

11.1. Drivers
11.2. Challenges

12. Market Trends & Developments

12.1. Merger & Acquisition (If Any)
12.2. Product Launches (If Any)
12.3. Recent Developments

13. Porters Five Forces Analysis

13.1. Competition in the Industry
13.2. Potential of New Entrants
13.3. Power of Suppliers
13.4. Power of Customers
13.5. Threat of Substitute Products

14. Competitive Landscape

14.1. Centogene N.V.
- 14.1.1. Business Overview
- 14.1.2. Company Snapshot
- 14.1.3. Products & Services
- 14.1.4. Financials (As Reported)
- 14.1.5. Recent Developments
- 14.1.6. Key Personnel Details
- 14.1.7. SWOT Analysis
14.2. Invitae Corp.
14.3. 3billion, Inc.
14.4. Arup Laboratories
14.5. Eurofins Scientific
14.6. Strand Life Sciences
14.7. Ambry Genetics
14.8. Perkin Elmer, Inc.
14.9. Realm IDX, Inc.
14.10. Macrogen, Inc.
14.11. Baylor Genetics