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Rare Disease Genetic Testing Global Market Report 2025
Global Rare Disease Genetic Testing Market Report 2025
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Published : December 2025

Pages : 250

Format : PDF

Delivery Time : 2-3 Business Days

Report Price : $4490.00 $3367.00

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Rare Disease Genetic Testing Global Market Report 2025

By Disease Type (Immunological Disorders, Cardiovascular Disorders, Neurological Disease, Endocrine And Metabolism Disorders Diseases, Hematological Diseases, Dermatological Disease, Other Disease Types), By Technology (Next-Generation Sequencing, Sanger Sequencing, Polymerase Chain Reaction Based Testing, Array Based Testing, Fluorescence In Situ Hybridization, Other Technologies), By Specialty (Molecular Genetic Tests, Chromosomal Genetic Tests, Biochemical Genetic Tests), By End-User (Hospitals And Clinics, Research Laboratories And Contract Research Organizations, Diagnostic Laboratories, Other End Users) - Market Size, Trends, And Global Forecast 2025-2034

Note that the outlook for this market is being affected by rapid changes in trade relations and tariffs globally. The report will be updated prior to delivery to reflect the latest status, including revised forecasts and quantified impact analysis. The report’s Recommendations and Conclusions sections will be updated to give strategies for entities dealing with the fast-moving international environment.

Rare Disease Genetic Testing Market Overview

• Rare Disease Genetic Testing market size has reached to $1.03 billion in 2024

• Expected to grow to $1.93 billion in 2029 at a compound annual growth rate (CAGR) of 13.3%

• Growth Driver: Increasing Genetic Disorders Fueling The Growth Of The Market Due To Rising Parental Age And Inherited Mutations

• Market Trend: Digital Genomics Platforms Enhance Accuracy And Speed Of Testing

North America was the largest region in 2024 and Asia-Pacific is the fastest growing region.

What Is Covered Under Rare Disease Genetic Testing Market?

Rare disease genetic testing refers to the analysis of a person’s DNA to identify genetic mutations or variations that may cause or contribute to a rare disease. This testing helps in accurate diagnosis, early intervention, and personalized treatment planning for individuals with rare or undiagnosed conditions.

The main disease types in rare disease genetic testing include immunological disorders, cardiovascular disorders, neurological diseases, endocrine and metabolism disorders, hematological diseases, dermatological diseases, and others. Immunological disorders refer to conditions in which the immune system functions abnormally, either by overreacting, underreacting, or attacking the body’s own tissues. These disorders are diagnosed using various technologies such as next-generation sequencing, sanger sequencing, polymerase chain reaction (PCR) based testing, array-based testing, fluorescence in situ hybridization (FISH), and others. In terms of specialty testing, it is classified into molecular genetic tests, chromosomal genetic tests, and biochemical genetic tests, serving a wide range of end users such as hospitals and clinics, research laboratories and contract research organizations, diagnostic laboratories, and other end users.

Rare Disease Genetic Testing Market Size and growth rate 2025 to 2029: Graph

What Is The Rare Disease Genetic Testing Market Size 2025 And Growth Rate?

The rare disease genetic testing market size has grown rapidly in recent years. It will grow from $1.03 billion in 2024 to $1.17 billion in 2025 at a compound annual growth rate (CAGR) of 13.6%. The growth in the historic period can be attributed to increasing awareness about rare genetic disorders, rising demand for early and accurate diagnosis, rise in government funding for rare disease research, increasing availability of genetic testing services, increasing precision medicine investments, and increasing incidence of rare genetic conditions.

What Is The Rare Disease Genetic Testing Market Growth Forecast?

The rare disease genetic testing market size is expected to see rapid growth in the next few years. It will grow to $1.93 billion in 2029 at a compound annual growth rate (CAGR) of 13.3%. The growth in the forecast period can be attributed to increasing adoption of next-generation sequencing, rising focus on personalized medicine, growing investments in genetic research, expanding healthcare infrastructure in emerging markets, a rise in diagnostic testing, increase in hereditary cancer testing, and rising demand for non-invasive diagnostic solutions. Major trends in the forecast period include advancement in genome editing technologies, advanced bioinformatics tools for genetic data analysis, innovation in multi-gene panel testing, advancement in portable genetic testing devices, and innovation in sample collection techniques.

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What’s The Trade War Impact On Healthcare Services Industry?

The sudden escalation of U.S. tariffs and the consequent trade frictions in spring 2025 are severely impacting the healthcare sector, particularly in the supply of critical medical devices, diagnostic equipment, and pharmaceuticals. Hospitals and healthcare providers are facing higher costs for imported surgical instruments, imaging equipment, and consumables such as syringes and catheters, many of which have limited domestic alternatives. These increased costs are straining healthcare budgets, leading some providers to delay equipment upgrades or pass on expenses to patients. Additionally, tariffs on raw materials and components are disrupting the production of essential drugs and devices, causing supply chain bottlenecks. In response, the industry is diversifying sourcing strategies, boosting local manufacturing where possible, and advocating for tariff exemptions on life-saving medical products.

How Is The Rare Disease Genetic Testing Market Segmented?

1) By Disease Type: Immunological Disorders, Cardiovascular Disorders, Neurological Disease, Endocrine And Metabolism Disorders Diseases, Hematological Diseases, Dermatological Disease, Other Disease Types

2) By Technology: Next-Generation Sequencing, Sanger Sequencing, Polymerase Chain Reaction Based Testing, Array Based Testing, Fluorescence In Situ Hybridization, Other Technologies

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

4) By End-User: Hospitals And Clinics, Research Laboratories And Contract Research Organizations, Diagnostic Laboratories, Other End Users

Subsegments:

1) By Immunological Disorders: Autoimmune Disorders, Allergic Conditions, Primary Immunodeficiency Disorders, Inflammatory Disorders

2) By Cardiovascular Disorders: Congenital Heart Defects, Cardiomyopathies, Aortic Aneurysms, Pulmonary Hypertension

3) By Neurological Disease: Neurodegenerative Disorders, Neuromuscular Disorders, Epileptic Syndromes, Movement Disorders

4) By Endocrine And Metabolism Disorders Diseases: Inherited Metabolic Disorders, Thyroid Disorders, Adrenal Disorders, Diabetes Related Genetic Conditions

5) By Hematological Diseases: hemophilia, Thalassemia, Sickle Cell Disease, Clotting Disorders

6) By Dermatological Disease: Genetic Skin Disorders, Connective Tissue Disorders, Pigmentary Disorders, Keratinization Disorders

7) By Other Disease Types: Skeletal Dysplasia, Renal Genetic Disorders, Ophthalmic Genetic Conditions, Gastrointestinal Genetic Conditions

What Is Driving The Rare Disease Genetic Testing Market? Increasing Genetic Disorders Fueling The Growth Of The Market Due To Rising Parental Age And Inherited Mutations

The increasing genetic disorders are expected to propel the growth of the rare disease genetic testing market going forward. Genetic disorders refer to medical conditions caused by abnormalities in an individual's deoxyribonucleic acid, inherited from one or both parents or arising from new mutations. The increasing genetic disorders are increasing due to rising parental age, as older parents have a higher risk of passing on genetic mutations to their children. Rare disease genetic testing helps in the diagnosis of genetic disorders by identifying specific mutations, enabling accurate and early detection. It supports personalized treatment planning, enhancing patient care and improving long-term health outcomes. For instance, in May 2024, according to the National Health Service, a UK-based government department, there are 17,000 people living with sickle cell disease, an inherited genetic blood disorder, with around 250 new cases diagnosed each year. Therefore, the increasing genetic disorders are driving the growth of the rare disease genetic testing industry.

Who Are The Major Players In The Global Rare Disease Genetic Testing Market?

Major companies operating in the rare disease genetic testing market are Thermo Fisher Scientific Inc., Quest Diagnostics Inc., Eurofins Scientific SE, Agilent Technologies Inc., Illumina Inc., QIAGEN N.V., Natera Inc., OPKO Health Inc., Myriad Genetics Inc., Fulgent Genetics Inc., BioReference Laboratories Inc., Invitae Corporation, Ambry Genetics Corporation, Centogene N.V., Baylor Genetics Company, PreventionGenetics, Blueprint Genetics Oy, Realm IDX Inc., Artemis DNA Inc., BGI Genomics Co. Ltd.

What Are The Key Trends Of The Global Rare Disease Genetic Testing Market? Digital Genomics Platforms Enhance Accuracy And Speed Of Testing

Major companies operating in the rare disease genetic testing market are focusing on developing technologically advanced solutions, such as digital genomics platforms, to enhance the speed, accuracy, and scalability of rare disease diagnosis. Digital genomics platforms are advanced software systems that integrate genomic data analysis, interpretation, and reporting to streamline and accelerate genetic testing and diagnosis. For instance, in March 2025, Strand Life Sciences Private Limited, an India-based computer software company, launched StrandOmics Portal, a digital platform aimed at enhancing the efficiency and accuracy of rare disease diagnosis. The portal offers clinicians in-depth insights into genetic variants, enabling quicker and more precise diagnoses. It supports advanced variant interpretation, including prenatal diagnostics, and facilitates independent reviews of genetic data. This launch underscores a strong commitment to advancing precision medicine and providing healthcare professionals with effective tools to enhance patient outcomes.

Need data on a specific region in this market?

What Are Latest Mergers And Acquisitions In The Rare Disease Genetic Testing Market? Exact Sciences Acquires Prevention Genetics To Expand Hereditary Cancer Testing Capabilities

In January 2022, Exact Sciences Corporation, a US-based molecular diagnostics company, acquired Prevention Genetics LLC for $190 million. With this acquisition, Exact Sciences aims to accelerate the availability of hereditary cancer testing, expand its advanced cancer diagnostics portfolio, and provide patients and healthcare providers with more comprehensive genetic insights. Prevention Genetics LLC is a US-based genetic testing company specializing in rare disease diagnostics.

What Is The Regional Outlook For The Global Rare Disease Genetic Testing Market?

North America was the largest region in the rare disease genetic testing market in 2024. Asia-Pacific is expected to be the fastest-growing region in the forecast period. The regions covered in this market report are Asia-Pacific, Western Europe, Eastern Europe, North America, South America, Middle East, Africa.

The countries covered in this market report are Australia, Brazil, China, France, Germany, India, Indonesia, Japan, Russia, South Korea, UK, USA, Canada, Italy, Spain.

What Defines the Rare Disease Genetic Testing Market?

The rare disease genetic testing market consists of revenues earned by entities by providing services such as whole exome sequencing, targeted gene panel testing, whole genome sequencing, carrier screening, and newborn genetic screening. The market value includes the value of related goods sold by the service provider or included within the service offering. The rare disease genetic testing market also includes sales of genetic testing kits, bioinformatics software, next-generation sequencing (NGS) platforms, laboratory reagents and consumables, and targeted gene panels. Values in this market are ‘factory gate’ values; that is, the value of goods sold by the manufacturers or creators of the goods, whether to other entities (including downstream manufacturers, wholesalers, distributors, and retailers) or directly to end customers. The value of goods in this market includes related services sold by the creators of the goods.

How is Market Value Defined and Measured?

The market value is defined as the revenues that enterprises gain from the sale of goods and/or services within the specified market and geography through sales, grants, or donations in terms of the currency (in USD unless otherwise specified).

The revenues for a specified geography are consumption values that are revenues generated by organizations in the specified geography within the market, irrespective of where they are produced. It does not include revenues from resales along the supply chain, either further along the supply chain or as part of other products.

What is the Market Assessment and Strategic Outlook for the Rare Disease Genetic Testing Industry?

The rare disease genetic testing market research report is one of a series of new reports from The Business Research Company that provides market statistics, including industry global market size, regional shares, competitors with the market share, detailed market segments, market trends and opportunities, and any further data you may need to thrive in the rare disease genetic testing industry. The market research report delivers a complete perspective of everything you need, with an in-depth analysis of the current and future state of the industry.

Author : Abdul Wasay

Rare Disease Genetic Testing Market Report Forecast Analysis

Report AttributeDetails
Market Size Value In 2025 $1.17 billion
Revenue Forecast In 2034 $1.93 billion
Growth Rate CAGR of 13.3% from 2025 to 2034
Base Year For Estimation 2024
Actual Estimates/Historical Data 2019-2024
Forecast Period 2025 - 2029 - 2034
Market Representation Revenue in USD Billion and CAGR from 2025 to 2034
Segments Covered Disease Type, Technology, Specialty, End-User
Regional Scope Asia-Pacific, Western Europe, Eastern Europe, North America, South America, Middle East, Africa
Country Scope The countries covered in the report are Australia, Brazil, China, France, Germany, India, Indonesia, Japan, Russia, South Korea, UK, USA, Canada, Italy, Spain. Additional countries that can be covered in the report are Bangladesh, Thailand, Vietnam, Malaysia, Singapore, Philippines, Hong Kong, New Zealand, Mexico, Chile, Argentina, Colombia, Peru, Austria, Belgium, Denmark, Finland, Ireland, Netherlands, Norway, Portugal, Sweden, Switzerland, Czech Republic, Poland, Romania, Ukraine, Saudi Arabia, Israel, Iran, Turkey, UAE, Egypt, Nigeria, South Africa.
Key Companies Profiled Thermo Fisher Scientific Inc., Quest Diagnostics Inc., Eurofins Scientific SE, Agilent Technologies Inc., Illumina Inc., QIAGEN N.V., Natera Inc., OPKO Health Inc., Myriad Genetics Inc., Fulgent Genetics Inc., BioReference Laboratories Inc., Invitae Corporation, Ambry Genetics Corporation, Centogene N.V., Baylor Genetics Company, PreventionGenetics, Blueprint Genetics Oy, Realm IDX Inc., Artemis DNA Inc., BGI Genomics Co. Ltd.
Customization ScopeRequest for Sample
Pricing And Purchase OptionsExplore Purchase Options

Table Of Contents

1. Executive Summary

2. Rare Disease Genetic Testing Market Characteristics

3. Rare Disease Genetic Testing Market Trends And Strategies

4. Rare Disease Genetic Testing Market - Macro Economic Scenario Including The Impact Of Interest Rates, Inflation, Geopolitics, Trade Wars and Tariffs, And Covid And Recovery On The Market

4.1. Supply Chain Impact from Tariff War & Trade Protectionism

5. Global Rare Disease Genetic Testing Growth Analysis And Strategic Analysis Framework

5.1. Global Rare Disease Genetic Testing PESTEL Analysis (Political, Social, Technological, Environmental and Legal Factors, Drivers and Restraints)

5.2. Analysis Of End Use Industries

5.3. Global Rare Disease Genetic Testing Market Growth Rate Analysis

5.4. Global Rare Disease Genetic Testing Historic Market Size and Growth, 2019 - 2024, Value ($ Billion)

5.5. Global Rare Disease Genetic Testing Forecast Market Size and Growth, 2024 - 2029, 2034F, Value ($ Billion)

5.6. Global Rare Disease Genetic Testing Total Addressable Market (TAM)

6. Rare Disease Genetic Testing Market Segmentation

6.1. Global Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Immunological Disorders

Cardiovascular Disorders

Neurological Disease

Endocrine And Metabolism Disorders Diseases

Hematological Diseases

Dermatological Disease

Other Disease Types

6.2. Global Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Next-Generation Sequencing

Sanger Sequencing

Polymerase Chain Reaction Based Testing

Array Based Testing

Fluorescence In Situ Hybridization

Other Technologies

6.3. Global Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Molecular Genetic Tests

Chromosomal Genetic Tests

Biochemical Genetic Tests

6.4. Global Rare Disease Genetic Testing Market, Segmentation By End-User, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Hospitals And Clinics

Research Laboratories And Contract Research Organizations

Diagnostic Laboratories

Other End Users

6.5. Global Rare Disease Genetic Testing Market, Sub-Segmentation Of Immunological Disorders, By Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Autoimmune Disorders

Allergic Conditions

Primary Immunodeficiency Disorders

Inflammatory Disorders

6.6. Global Rare Disease Genetic Testing Market, Sub-Segmentation Of Cardiovascular Disorders, By Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Congenital Heart Defects

Cardiomyopathies

Aortic Aneurysms

Pulmonary Hypertension

6.7. Global Rare Disease Genetic Testing Market, Sub-Segmentation Of Neurological Disease, By Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Neurodegenerative Disorders

Neuromuscular Disorders

Epileptic Syndromes

Movement Disorders

6.8. Global Rare Disease Genetic Testing Market, Sub-Segmentation Of Neurological Disease, By Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Neurodegenerative Disorders

Neuromuscular Disorders

Epileptic Syndromes

Movement Disorders

6.9. Global Rare Disease Genetic Testing Market, Sub-Segmentation Of Endocrine And Metabolism Disorders Diseases, By Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Inherited Metabolic Disorders

Thyroid Disorders

Adrenal Disorders

Diabetes Related Genetic Conditions

6.10. Global Rare Disease Genetic Testing Market, Sub-Segmentation Of Dermatological Disease, By Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Genetic Skin Disorders

Connective Tissue Disorders

Pigmentary Disorders

Keratinization Disorders

6.11. Global Rare Disease Genetic Testing Market, Sub-Segmentation Of Other Disease Types, By Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Skeletal Dysplasias

Renal Genetic Disorders

Ophthalmic Genetic Conditions

Gastrointestinal Genetic Conditions

7. Rare Disease Genetic Testing Market Regional And Country Analysis

7.1. Global Rare Disease Genetic Testing Market, Split By Region, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

7.2. Global Rare Disease Genetic Testing Market, Split By Country, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

8. Asia-Pacific Rare Disease Genetic Testing Market

8.1. Asia-Pacific Rare Disease Genetic Testing Market Overview

Region Information, Market Information, Background Information, Government Initiatives, Regulations, Regulatory Bodies, Major Associations, Taxes Levied, Corporate Tax Structure, Investments, Major Companies

8.2. Asia-Pacific Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

8.3. Asia-Pacific Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

8.4. Asia-Pacific Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

9. China Rare Disease Genetic Testing Market

9.1. China Rare Disease Genetic Testing Market Overview

9.2. China Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F,$ Billion

9.3. China Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F,$ Billion

9.4. China Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F,$ Billion

10. India Rare Disease Genetic Testing Market

10.1. India Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

10.2. India Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

10.3. India Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

11. Japan Rare Disease Genetic Testing Market

11.1. Japan Rare Disease Genetic Testing Market Overview

11.2. Japan Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

11.3. Japan Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

11.4. Japan Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

12. Australia Rare Disease Genetic Testing Market

12.1. Australia Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

12.2. Australia Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

12.3. Australia Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

13. Indonesia Rare Disease Genetic Testing Market

13.1. Indonesia Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

13.2. Indonesia Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

13.3. Indonesia Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

14. South Korea Rare Disease Genetic Testing Market

14.1. South Korea Rare Disease Genetic Testing Market Overview

14.2. South Korea Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

14.3. South Korea Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

14.4. South Korea Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

15. Western Europe Rare Disease Genetic Testing Market

15.1. Western Europe Rare Disease Genetic Testing Market Overview

15.2. Western Europe Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

15.3. Western Europe Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

15.4. Western Europe Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

16. UK Rare Disease Genetic Testing Market

16.1. UK Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

16.2. UK Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

16.3. UK Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

17. Germany Rare Disease Genetic Testing Market

17.1. Germany Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

17.2. Germany Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

17.3. Germany Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

18. France Rare Disease Genetic Testing Market

18.1. France Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

18.2. France Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

18.3. France Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

19. Italy Rare Disease Genetic Testing Market

19.1. Italy Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

19.2. Italy Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

19.3. Italy Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

20. Spain Rare Disease Genetic Testing Market

20.1. Spain Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

20.2. Spain Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

20.3. Spain Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

21. Eastern Europe Rare Disease Genetic Testing Market

21.1. Eastern Europe Rare Disease Genetic Testing Market Overview

21.2. Eastern Europe Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

21.3. Eastern Europe Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

21.4. Eastern Europe Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

22. Russia Rare Disease Genetic Testing Market

22.1. Russia Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

22.2. Russia Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

22.3. Russia Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

23. North America Rare Disease Genetic Testing Market

23.1. North America Rare Disease Genetic Testing Market Overview

23.2. North America Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

23.3. North America Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

23.4. North America Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

24. USA Rare Disease Genetic Testing Market

24.1. USA Rare Disease Genetic Testing Market Overview

24.2. USA Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

24.3. USA Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

24.4. USA Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

25. Canada Rare Disease Genetic Testing Market

25.1. Canada Rare Disease Genetic Testing Market Overview

25.2. Canada Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

25.3. Canada Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

25.4. Canada Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

26. South America Rare Disease Genetic Testing Market

26.1. South America Rare Disease Genetic Testing Market Overview

26.2. South America Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

26.3. South America Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

26.4. South America Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

27. Brazil Rare Disease Genetic Testing Market

27.1. Brazil Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

27.2. Brazil Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

27.3. Brazil Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

28. Middle East Rare Disease Genetic Testing Market

28.1. Middle East Rare Disease Genetic Testing Market Overview

28.2. Middle East Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

28.3. Middle East Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

28.4. Middle East Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

29. Africa Rare Disease Genetic Testing Market

29.1. Africa Rare Disease Genetic Testing Market Overview

29.2. Africa Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

29.3. Africa Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

29.4. Africa Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

30. Rare Disease Genetic Testing Market Competitive Landscape And Company Profiles

30.1. Rare Disease Genetic Testing Market Competitive Landscape

30.2. Rare Disease Genetic Testing Market Company Profiles

30.2.1. Thermo Fisher Scientific Inc. Overview, Products and Services, Strategy and Financial Analysis

30.2.2. Quest Diagnostics Inc. Overview, Products and Services, Strategy and Financial Analysis

30.2.3. Eurofins Scientific SE Overview, Products and Services, Strategy and Financial Analysis

30.2.4. Agilent Technologies Inc. Overview, Products and Services, Strategy and Financial Analysis

30.2.5. Illumina Inc. Overview, Products and Services, Strategy and Financial Analysis

31. Rare Disease Genetic Testing Market Other Major And Innovative Companies

31.1. QIAGEN N.V.

31.2. Natera Inc.

31.3. OPKO Health Inc.

31.4. Myriad Genetics Inc.

31.5. Fulgent Genetics Inc.

31.6. BioReference Laboratories Inc.

31.7. Invitae Corporation

31.8. Ambry Genetics Corporation

31.9. Centogene N.V.

31.10. Baylor Genetics Company

31.11. PreventionGenetics

31.12. Blueprint Genetics Oy

31.13. Realm IDX Inc.

31.14. Artemis DNA Inc.

31.15. BGI Genomics Co. Ltd.

32. Global Rare Disease Genetic Testing Market Competitive Benchmarking And Dashboard

33. Key Mergers And Acquisitions In The Rare Disease Genetic Testing Market

34. Recent Developments In The Rare Disease Genetic Testing Market

35. Rare Disease Genetic Testing Market High Potential Countries, Segments and Strategies

35.1 Rare Disease Genetic Testing Market In 2029 - Countries Offering Most New Opportunities

35.2 Rare Disease Genetic Testing Market In 2029 - Segments Offering Most New Opportunities

35.3 Rare Disease Genetic Testing Market In 2029 - Growth Strategies

35.3.1 Market Trend Based Strategies

35.3.2 Competitor Strategies

36. Appendix

36.1. Abbreviations

36.2. Currencies

36.3. Historic And Forecast Inflation Rates

36.4. Research Inquiries

36.5. The Business Research Company

36.6. Copyright And Disclaimer

List Of Tables

    Table 1: Global Historic Market Growth, 2019-2024, $ Billion
  • Table 2: Global Forecast Market Growth, 2024-2029F, 2034F, $ Billion
  • Table 3: Global Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 4: Global Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 5: Global Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 6: Global Rare Disease Genetic Testing Market, Segmentation By End-User, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 7: Global Rare Disease Genetic Testing Market, Sub-Segmentation Of Immunological Disorders, By Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 8: Global Rare Disease Genetic Testing Market, Sub-Segmentation Of Cardiovascular Disorders, By Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 9: Global Rare Disease Genetic Testing Market, Sub-Segmentation Of Neurological Disease, By Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 10: Global Rare Disease Genetic Testing Market, Sub-Segmentation Of Neurological Disease, By Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 11: Global Rare Disease Genetic Testing Market, Sub-Segmentation Of Endocrine And Metabolism Disorders Diseases, By Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 12: Global Rare Disease Genetic Testing Market, Sub-Segmentation Of Dermatological Disease, By Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 13: Global Rare Disease Genetic Testing Market, Sub-Segmentation Of Other Disease Types, By Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 14: Global Rare Disease Genetic Testing Market, Split By Region, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 15: Global Rare Disease Genetic Testing Market, Split By Country, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 16: Asia-Pacific, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 17: Asia-Pacific, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 18: Asia-Pacific, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 19: China, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 20: China, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 21: China, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 22: India, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 23: India, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 24: India, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 25: Japan, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 26: Japan, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 27: Japan, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 28: Australia, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 29: Australia, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 30: Australia, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 31: Indonesia, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 32: Indonesia, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 33: Indonesia, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 34: South Korea, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 35: South Korea, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 36: South Korea, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 37: Western Europe, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 38: Western Europe, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 39: Western Europe, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 40: UK, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 41: UK, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 42: UK, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 43: Germany, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 44: Germany, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 45: Germany, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 46: France, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 47: France, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 48: France, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 49: Italy, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 50: Italy, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 51: Italy, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 52: Spain, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 53: Spain, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 54: Spain, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 55: Eastern Europe, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 56: Eastern Europe, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 57: Eastern Europe, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 58: Russia, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 59: Russia, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 60: Russia, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 61: North America, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 62: North America, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 63: North America, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 64: USA, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 65: USA, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 66: USA, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 67: Canada, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 68: Canada, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 69: Canada, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 70: South America, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 71: South America, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 72: South America, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 73: Brazil, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 74: Brazil, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 75: Brazil, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 76: Middle East, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 77: Middle East, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 78: Middle East, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 79: Africa, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 80: Africa, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 81: Africa, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Table 82: Thermo Fisher Scientific Inc. Financial Performance
  • Table 83: Quest Diagnostics Inc. Financial Performance
  • Table 84: Eurofins Scientific SE Financial Performance
  • Table 85: Agilent Technologies Inc. Financial Performance
  • Table 86: Illumina Inc. Financial Performance

List Of Figures

    Figure 1: Global Historic Market Growth, 2019-2024, $ Billion
  • Figure 2: Global Forecast Market Growth, 2024-2029F, 2034F, $ Billion
  • Figure 3: Global Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 4: Global Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 5: Global Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 6: Global Rare Disease Genetic Testing Market, Segmentation By End-User, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 7: Global Rare Disease Genetic Testing Market, Sub-Segmentation Of Immunological Disorders, By Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 8: Global Rare Disease Genetic Testing Market, Sub-Segmentation Of Cardiovascular Disorders, By Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 9: Global Rare Disease Genetic Testing Market, Sub-Segmentation Of Neurological Disease, By Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 10: Global Rare Disease Genetic Testing Market, Sub-Segmentation Of Neurological Disease, By Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 11: Global Rare Disease Genetic Testing Market, Sub-Segmentation Of Endocrine And Metabolism Disorders Diseases, By Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 12: Global Rare Disease Genetic Testing Market, Sub-Segmentation Of Dermatological Disease, By Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 13: Global Rare Disease Genetic Testing Market, Sub-Segmentation Of Other Disease Types, By Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 14: Global Rare Disease Genetic Testing Market, Split By Region, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 15: Global Rare Disease Genetic Testing Market, Split By Country, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 16: Asia-Pacific, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 17: Asia-Pacific, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 18: Asia-Pacific, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 19: China, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 20: China, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 21: China, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 22: India, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 23: India, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 24: India, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 25: Japan, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 26: Japan, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 27: Japan, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 28: Australia, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 29: Australia, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 30: Australia, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 31: Indonesia, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 32: Indonesia, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 33: Indonesia, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 34: South Korea, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 35: South Korea, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 36: South Korea, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 37: Western Europe, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 38: Western Europe, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 39: Western Europe, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 40: UK, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 41: UK, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 42: UK, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 43: Germany, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 44: Germany, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 45: Germany, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 46: France, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 47: France, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 48: France, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 49: Italy, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 50: Italy, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 51: Italy, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 52: Spain, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 53: Spain, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 54: Spain, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 55: Eastern Europe, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 56: Eastern Europe, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 57: Eastern Europe, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 58: Russia, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 59: Russia, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 60: Russia, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 61: North America, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 62: North America, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 63: North America, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 64: USA, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 65: USA, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 66: USA, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 67: Canada, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 68: Canada, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 69: Canada, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 70: South America, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 71: South America, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 72: South America, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 73: Brazil, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 74: Brazil, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 75: Brazil, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 76: Middle East, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 77: Middle East, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 78: Middle East, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 79: Africa, Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 80: Africa, Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 81: Africa, Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Figure 82: Thermo Fisher Scientific Inc. Financial Performance
  • Figure 83: Quest Diagnostics Inc. Financial Performance
  • Figure 84: Eurofins Scientific SE Financial Performance
  • Figure 85: Agilent Technologies Inc. Financial Performance
  • Figure 86: Illumina Inc. Financial Performance

Frequently Asked Questions

Rare disease genetic testing refers to the analysis of a person’s DNA to identify genetic mutations or variations that may cause or contribute to a rare disease. This testing helps in accurate diagnosis, early intervention, and personalized treatment planning for individuals with rare or undiagnosed conditions. For further insights on this market, request a sample here

The market major growth driver - Increasing Genetic Disorders Fueling The Growth Of The Market Due To Rising Parental Age And Inherited Mutations. For further insights on this market, request a sample here

The rare disease genetic testing market size has grown rapidly in recent years. It will grow from $1.03 billion in 2024 to $1.17 billion in 2025 at a compound annual growth rate (CAGR) of 13.6%. The growth in the historic period can be attributed to increasing awareness about rare genetic disorders, rising demand for early and accurate diagnosis, rise in government funding for rare disease research, increasing availability of genetic testing services, increasing precision medicine investments, and increasing incidence of rare genetic conditions. The rare disease genetic testing market size is expected to see rapid growth in the next few years. It will grow to $1.93 billion in 2029 at a compound annual growth rate (CAGR) of 13.3%. The growth in the forecast period can be attributed to increasing adoption of next-generation sequencing, rising focus on personalized medicine, growing investments in genetic research, expanding healthcare infrastructure in emerging markets, a rise in diagnostic testing, increase in hereditary cancer testing, and rising demand for non-invasive diagnostic solutions. Major trends in the forecast period include advancement in genome editing technologies, advanced bioinformatics tools for genetic data analysis, innovation in multi-gene panel testing, advancement in portable genetic testing devices, and innovation in sample collection techniques. For further insights on this market, request a sample here

The rare disease genetic testing market covered in this report is segmented
1) By Disease Type: Immunological Disorders, Cardiovascular Disorders, Neurological Disease, Endocrine And Metabolism Disorders Diseases, Hematological Diseases, Dermatological Disease, Other Disease Types
2) By Technology: Next-Generation Sequencing, Sanger Sequencing, Polymerase Chain Reaction Based Testing, Array Based Testing, Fluorescence In Situ Hybridization, Other Technologies
3) By Specialty: Molecular Genetic Tests, Chromosomal Genetic Tests, Biochemical Genetic Tests
4) By End-User: Hospitals And Clinics, Research Laboratories And Contract Research Organizations, Diagnostic Laboratories, Other End Users Subsegments:
1) By Immunological Disorders: Autoimmune Disorders, Allergic Conditions, Primary Immunodeficiency Disorders, Inflammatory Disorders
2) By Cardiovascular Disorders: Congenital Heart Defects, Cardiomyopathies, Aortic Aneurysms, Pulmonary Hypertension
3) By Neurological Disease: Neurodegenerative Disorders, Neuromuscular Disorders, Epileptic Syndromes, Movement Disorders
4) By Endocrine And Metabolism Disorders Diseases: Inherited Metabolic Disorders, Thyroid Disorders, Adrenal Disorders, Diabetes Related Genetic Conditions
5) By Hematological Diseases: Hemophilia, Thalassemia, Sickle Cell Disease, Clotting Disorders
6) By Dermatological Disease: Genetic Skin Disorders, Connective Tissue Disorders, Pigmentary Disorders, Keratinization Disorders
7) By Other Disease Types: Skeletal Dysplasia, Renal Genetic Disorders, Ophthalmic Genetic Conditions, Gastrointestinal Genetic Conditions For further insights on this market,
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North America was the largest region in the rare disease genetic testing market in 2024. Asia-Pacific is expected to be the fastest-growing region in the forecast period. The regions covered in the rare disease genetic testing market report are Asia-Pacific, Western Europe, Eastern Europe, North America, South America, Middle East, Africa. For further insights on this market, request a sample here.

Major companies operating in the rare disease genetic testing market are Thermo Fisher Scientific Inc., Quest Diagnostics Inc., Eurofins Scientific SE, Agilent Technologies Inc., Illumina Inc., QIAGEN N.V., Natera Inc., OPKO Health Inc., Myriad Genetics Inc., Fulgent Genetics Inc., BioReference Laboratories Inc., Invitae Corporation, Ambry Genetics Corporation, Centogene N.V., Baylor Genetics Company, PreventionGenetics, Blueprint Genetics Oy, Realm IDX Inc., Artemis DNA Inc., BGI Genomics Co. Ltd. . For further insights on this market, request a sample here.

Major trends in this market include Digital Genomics Platforms Enhance Accuracy And Speed Of Testing. For further insights on this market, request a sample here.

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