What are the major opportunities in the Rare Disease Diagnostics market? What are the strategies for the Rare Disease Diagnostics market?

For detailed insights on the major opportunities and strategies in the Rare Disease Diagnostics market, Read More

How does the Rare Disease Diagnostics market relate to the overall economy and other similar markets?

For detailed insights on Rare Disease Diagnostics's relation to the overall economy and other similar markets, Read More

What are the key dynamics influencing the Rare Disease Diagnostics market growth? SWOT analysis of the Rare Disease Diagnostics market.

For detailed insights on the key dynamics influencing the Rare Disease Diagnostics market growth and SWOT analysis of the Rare Disease Diagnostics industry, Read More

Global Rare Disease Diagnostics Market Report 2025

Report Price : $4490.00

Pages : 200

Format : PDF

Published : January 2025

Delivery Time : 2-3 Business Days

Purchase This Report

Rare Disease Diagnostics Global Market Report 2025

Name: Rare Disease Diagnostics Global Market Report 2025
Brand: The Business Research Company
Price: 4490.00 USD
Availability: InStock

By Test Type (Genetic Test, General Lab Test, Imaging Test), By Technology (Capillary Sequencing, Whole Genome Sequencing, Whole Exome Sequencing, Microarrays), By Sample Type (Deoxyribonucleic Acid (DNA) Sample, Buccal Swab Sample, Blood, Saliva), By Disease Type (Gastroenterology Disease, Endocrine And Metabolism Disorders Disease, Hematology And Oncology Disease, Dermatology Disease, Cardiovascular Disorders, Neurology Disease), By End User (Hospital Laboratories, Diagnostics Laboratories, Genetic Testing Laboratories, Cancer Research Laboratories) – Impact of Tariff and Trade War on Market Size, Growth, Trends, and 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 Diagnostics Market Overview

• Rare Disease Diagnostics market size has reached to $35.23 billion in 2024

• Expected to grow to $56.08 billion in 2029 at a compound annual growth rate (CAGR) of 10.1%

• Growth Driver: A Surge In Rare Disease Incidence And Diagnostics

• Market Trend: Technological Advancements Reshaping Diagnostics

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

What Is Covered Under Rare Disease Diagnostics Market?

Rare disease diagnostics refers to the process of identifying and diagnosing medical conditions that are considered rare or uncommon. These diagnostics are used for early detection and diagnosis, as well as the selection of targeted and personalized treatment plans for uncommon disorders.

The main tests included in rare disease diagnostics are genetic tests, general lab tests, and imaging tests. A genetic test refers to a laboratory procedure that examines the chromosomes, genes, or gene expression in human cells or tissue. The various technologies are included, such as capillary sequencing, Whole Genome Sequencing, whole exome sequencing, and microarrays that use different samples, such as deoxyribonucleic acid (DNA) samples, buccal swab samples, blood, and saliva, for various diseases diagnosis, including gastroenterology disease, endocrine and metabolism disorders disease, hematology and oncology disease, dermatology disease, cardiovascular disorders, and neurology disease. These are used by several end-users, such as hospital laboratories, diagnostics laboratories, genetic testing laboratories, and cancer research laboratories.

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

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

What Is The Rare Disease Diagnostics Market Growth Forecast?

The rare disease diagnostics market size is expected to see rapid growth in the next few years. It will grow to $56.08 billion in 2029 at a compound annual growth rate (CAGR) of 10.1%. The growth in the forecast period can be attributed to increasing prevalence of rare diseases, increasing government initiatives, increasing number of hospitals and diagnostic laboratories, growing hematology diseases, increasing healthcare infrastructure. Major trends in the forecast period include advancements in genetic testing technologies, introduction of whole-genome sequencing and next-generation sequencing (NGS), extensive investments, strategic collaborations for research initiatives.

The forecast of 10.1% growth over the next five years reflects a slight reduction of 0.2% from the previous projection. This reduction is primarily due to the impact of tariffs between the US and other countries. Tariff escalations are likely to burden U.S. providers by driving up the cost of next-generation sequencing panels and CRISPR-based detection kits sourced from the UK and South Korea, exacerbating diagnostic delays and raising genetic testing expenses. The effect will also be felt more widely due to reciprocal tariffs and the negative effect on the global economy and trade due to increased trade tensions and restrictions.

Book your 30 minutes free consultation with our research experts

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 Diagnostics Market Segmented?

1) By Test Type: Genetic Test, General Lab Test, Imaging Test

2) By Technology: Capillary Sequencing, Whole Genome Sequencing, Whole Exome Sequencing, Microarrays

3) By Sample Type: Deoxyribonucleic Acid (DNA) Sample, Buccal Swab Sample, Blood, Saliva

4) By Disease Type: Gastroenterology Disease, Endocrine And Metabolism Disorders Disease, Hematology And Oncology Disease, Dermatology Disease, Cardiovascular Disorders, Neurology Disease

5) By End User: Hospital Laboratories, Diagnostics Laboratories, Genetic Testing Laboratories, Cancer Research Laboratories

Subsegments:

1) By Genetic Test: Whole Genome Sequencing, Targeted Gene Panels, Exome Sequencing, Carrier Testing

2) By General Lab Test: Blood Tests, Biochemical Assays, Urine Tests, Cytogenetic Tests

3) By Imaging Test: MRI (Magnetic Resonance Imaging), CT (Computed Tomography) Scans, Ultrasound, X-Rays

What Is Driving The Rare Disease Diagnostics Market? A Surge In Rare Disease Incidence And Diagnostics

The increasing incidence of rare diseases is expected to propel the growth of the rare disease diagnostics market going forward. A rare disease refers to a low-prevalence health issue that, in comparison to other common diseases in the population, only affects a tiny number of people. Rare disease diagnostics help in the better management of the disease, the identification of potential therapeutics, and the avoidance of unnecessary treatments that may have severe side effects that aid in efficacious treatment. For instance, in November 2022, according to Health Match, an Australia-based digital health company, there are around 150 rare kidney ailments, and these diseases have a high prevalence around the world, with 60–80 incidences per 100,000 people in America and Europe. Therefore, the increasing incidence of rare diseases is driving the growth of the rare disease diagnostics industry.

What Is Driving The Rare Disease Diagnostics Market? Rare Disease Diagnostics Market Thrives With Aging Populations

The growing aging population is expected to propel the growth of the rare disease diagnostics market going forward. An aging population refers to a demographic situation where the proportion of elderly individuals in a society is increasing over time, either in absolute numbers or as a percentage of the total population. Rare disease diagnostics play a crucial role in the aging population by facilitating early identification, enabling personalized treatment approaches, contributing to research efforts, and ultimately improving the overall management of health conditions in this demographic. For instance, in June 2023, The United States Census Bureau, a US-based Government agency, reported that the country's median age rose by 0.2 years to 38.9 years in 2022, suggesting that the population is still getting older. Therefore, growing aging population is driving the growth of the rare disease diagnostics industry.

Who Are The Major Players In The Global Rare Disease Diagnostics Market?

Major companies operating in the rare disease diagnostics market include Thermo Fisher Scientific Inc., Roche Diagnostics, Laboratory Corporation of America Holdings, Quest Diagnostics Incorporated, Astellas Pharma Inc., Eurofins Scientific SE, Agilent Technologies Inc., PerkinElmer Inc., Sanofi Genzyme, Illumina Inc., Bio-Rad Laboratories Inc., Qiagen NV, BioMarin Pharmaceutical Inc., OPKO Health Inc., Sarepta Therapeutics Inc., Natera Inc., Invitae Corporation, Ultragenyx Pharmaceutical Inc., Travere Therapeutics Inc., BGI Genomics Co. Ltd., 23andMe Holding Co., Ambry Genetics Corporation, Centogene N.V., GENEWIZ Inc., Blueprint Genetics Inc., Oxford Gene Technology Limited, Strand Life Sciences Pvt. Ltd., Agios Pharmaceuticals Inc., Orphazyme A/S, RareCyte Inc.

What Are The Key Trends Of The Global Rare Disease Diagnostics Market? Technological Advancements Reshaping Diagnostics

Advancements in technology are a key trend gaining popularity in the rare disease diagnostics market. Major companies operating in the rare disease diagnostics market are adopting new technologies to sustain their position in the market. For instance, in April 2023, Centogene GmbH, a Germany-based rare disease company, launched CentoGenome, a whole genome sequencing solution for the diagnosis of rare and neurodegenerative diseases. CentoGenome is an enhanced next-generation sequencing (NGS)-based assay that offers whole genome sequencing (WGS) tests for both rare and neurodegenerative disorders, covering almost all disease-causing variants in a single assay. Additionally, it has the best sensitivity for detecting Copy Number Variations (CNVs) linked with Spinal Muscular Atrophy (SMA), as well as complicated disease-causing variations associated with Gaucher Disease (GD) and susceptibility to GBA1-related Parkinson's Disease (PD). Centogenome's implementation of PCR (polymerase chain reaction)-free technology in difficult-to-sequence genomic areas will greatly minimize bias and offer high-quality sequencing data, allowing for a deeper understanding of coding, regulatory, and intronic regions.

What Are The Key Trends Of The Global Rare Disease Diagnostics Market? Revolutionary Genetic Testing Approach For Rare Cancer Diagnoses

Major companies operating in the rare disease diagnostics market are developing new products such as genetic testing to increase their profitability in the market. Genetic testing for enhancing rare cancer diagnoses refers to the use of advanced genetic analysis techniques to identify and understand the genetic components associated with rare forms of cancer. For instance, in March 2022, Illumina, a US-based biotechnology company launched TruSight Oncology Comprehensive test kit. This test analyzes 517 cancer-related genes across almost 30 solid tumor types in a single tissue sample. It provides crucial information, including mutational burden score, microsatellite instability status, and detects the TRK mutation, encountered in under 1% of cancers. This comprehensive test surpasses existing kits by scanning for more mutations, streamlining the identification of treatment options and eliminating the need for multiple sequential gene tests from separate biopsies.

Need data on a specific region in this market?

Request Customisation

Rare Disease Diagnostics Market Merger And Acquisition: Sema4’s Acquisition Of Genedx Reshapes Rare Disease Diagnostics Landscape

In April 2022, Sema4 Holding Corp., a US-based patient-centered health intelligence company, acquired GeneDx for $623 million. Sema4 anticipates the acquisition will boost its AI-driven genomic and clinical data analytics platform. GeneDx is a US-based genomic testing service provider for the diagnosis of rare and ultra-rare pediatric genetic illnesses.

Regional Outlook For The Global Rare Disease Diagnostics Market

North America was the largest region in the rare disease diagnostics 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, Italy, Spain, Canada.

What Defines the Rare Disease Diagnostics Market?

The rare disease diagnostics market consists of revenues earned by entities by providing services such as clinical evaluation, parallel sequencing, targeted sequencing, laboratory testing, and specialist consultation. The market value includes the value of related goods sold by the service provider or included within the service offering. The rare disease diagnostics market also includes sales of vision evaluation instruments, blood pressure cuffs, cardiac monitors, and advanced imaging equipment. 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 Diagnostics Industry?

The rare disease diagnostics 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 diagnostics 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.

Rare Disease Diagnostics Market Report Forecast Analysis

Report Attribute	Details
Market Size Value In 2025	$38.14 billion
Revenue Forecast In 2034	$56.08 billion
Growth Rate	CAGR of 10.1% 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	1) By Test Type: Genetic Test, General Lab Test, Imaging Test 2) By Technology: Capillary Sequencing, Whole Genome Sequencing, Whole Exome Sequencing, Microarrays 3) By Sample Type: Deoxyribonucleic Acid (DNA) Sample, Buccal Swab Sample, Blood, Saliva 4) By Disease Type: Gastroenterology Disease, Endocrine And Metabolism Disorders Disease, Hematology And Oncology Disease, Dermatology Disease, Cardiovascular Disorders, Neurology Disease 5) By End User: Hospital Laboratories, Diagnostics Laboratories, Genetic Testing Laboratories, Cancer Research Laboratories Subsegments: 1) By Genetic Test: Whole Genome Sequencing, Targeted Gene Panels, Exome Sequencing, Carrier Testing 2) By General Lab Test: Blood Tests, Biochemical Assays, Urine Tests, Cytogenetic Tests 3) By Imaging Test: MRI (Magnetic Resonance Imaging), CT (Computed Tomography) Scans, Ultrasound, X-Rays
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., Roche Diagnostics, Laboratory Corporation of America Holdings, Quest Diagnostics Incorporated, Astellas Pharma Inc., Eurofins Scientific SE, Agilent Technologies Inc., PerkinElmer Inc., Sanofi Genzyme, Illumina Inc., Bio-Rad Laboratories Inc., Qiagen NV, BioMarin Pharmaceutical Inc., OPKO Health Inc., Sarepta Therapeutics Inc., Natera Inc., Invitae Corporation, Ultragenyx Pharmaceutical Inc., Travere Therapeutics Inc., BGI Genomics Co. Ltd., 23andMe Holding Co., Ambry Genetics Corporation, Centogene N.V., GENEWIZ Inc., Blueprint Genetics Inc., Oxford Gene Technology Limited, Strand Life Sciences Pvt. Ltd., Agios Pharmaceuticals Inc., Orphazyme A/S, RareCyte Inc.
Customization Scope	Request for Sample
Pricing And Purchase Options	Explore Purchase Options

1. Executive Summary

2. Rare Disease Diagnostics Market Characteristics

3. Rare Disease Diagnostics Market Trends And Strategies

4. Rare Disease Diagnostics 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 Diagnostics Growth Analysis And Strategic Analysis Framework

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

5.2. Analysis Of End Use Industries

5.3. Global Rare Disease Diagnostics Market Growth Rate Analysis

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

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

5.6. Global Rare Disease Diagnostics Total Addressable Market (TAM)

6. Rare Disease Diagnostics Market Segmentation

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

Genetic Test

General Lab Test

Imaging Test

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

Capillary Sequencing

Whole Genome Sequencing

Whole Exome Sequencing

Microarrays

6.3. Global Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Deoxyribonucleic Acid (DNA) Sample

Buccal Swab Sample

Blood

Saliva

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

Gastroenterology Disease

Endocrine And Metabolism Disorders Disease

Hematology And Oncology Disease

Dermatology Disease

Cardiovascular Disorders

Neurology Disease

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

Hospital Laboratories

Diagnostics Laboratories

Genetic Testing Laboratories

Cancer Research Laboratories

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

Whole Genome Sequencing

Targeted Gene Panels

Exome Sequencing

Carrier Testing

6.7. Global Rare Disease Diagnostics Market, Sub-Segmentation Of General Lab Test, By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Blood Tests

Biochemical Assays

Urine Tests

Cytogenetic Tests

6.8. Global Rare Disease Diagnostics Market, Sub-Segmentation Of Imaging Test, By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

MRI (Magnetic Resonance Imaging)

CT (Computed Tomography) Scans

Ultrasound

X-Rays

7. Rare Disease Diagnostics Market Regional And Country Analysis

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

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

8. Asia-Pacific Rare Disease Diagnostics Market

8.1. Asia-Pacific Rare Disease Diagnostics 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 Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

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

8.4. Asia-Pacific Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

9. China Rare Disease Diagnostics Market

9.1. China Rare Disease Diagnostics Market Overview

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

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

9.4. China Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F,$ Billion

10. India Rare Disease Diagnostics Market

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

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

10.3. India Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

11. Japan Rare Disease Diagnostics Market

11.1. Japan Rare Disease Diagnostics Market Overview

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

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

11.4. Japan Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

12. Australia Rare Disease Diagnostics Market

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

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

12.3. Australia Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

13. Indonesia Rare Disease Diagnostics Market

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

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

13.3. Indonesia Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

14. South Korea Rare Disease Diagnostics Market

14.1. South Korea Rare Disease Diagnostics Market Overview

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

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

14.4. South Korea Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

15. Western Europe Rare Disease Diagnostics Market

15.1. Western Europe Rare Disease Diagnostics Market Overview

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

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

15.4. Western Europe Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

16. UK Rare Disease Diagnostics Market

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

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

16.3. UK Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

17. Germany Rare Disease Diagnostics Market

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

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

17.3. Germany Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

18. France Rare Disease Diagnostics Market

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

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

18.3. France Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

19. Italy Rare Disease Diagnostics Market

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

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

19.3. Italy Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

20. Spain Rare Disease Diagnostics Market

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

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

20.3. Spain Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

21. Eastern Europe Rare Disease Diagnostics Market

21.1. Eastern Europe Rare Disease Diagnostics Market Overview

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

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

21.4. Eastern Europe Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

22. Russia Rare Disease Diagnostics Market

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

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

22.3. Russia Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

23. North America Rare Disease Diagnostics Market

23.1. North America Rare Disease Diagnostics Market Overview

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

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

23.4. North America Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

24. USA Rare Disease Diagnostics Market

24.1. USA Rare Disease Diagnostics Market Overview

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

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

24.4. USA Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

25. Canada Rare Disease Diagnostics Market

25.1. Canada Rare Disease Diagnostics Market Overview

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

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

25.4. Canada Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

26. South America Rare Disease Diagnostics Market

26.1. South America Rare Disease Diagnostics Market Overview

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

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

26.4. South America Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

27. Brazil Rare Disease Diagnostics Market

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

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

27.3. Brazil Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

28. Middle East Rare Disease Diagnostics Market

28.1. Middle East Rare Disease Diagnostics Market Overview

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

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

28.4. Middle East Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

29. Africa Rare Disease Diagnostics Market

29.1. Africa Rare Disease Diagnostics Market Overview

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

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

29.4. Africa Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

30. Rare Disease Diagnostics Market Competitive Landscape And Company Profiles

30.1. Rare Disease Diagnostics Market Competitive Landscape

30.2. Rare Disease Diagnostics Market Company Profiles

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

30.2.2. Roche Diagnostics Overview, Products and Services, Strategy and Financial Analysis

30.2.3. Laboratory Corporation of America Holdings Overview, Products and Services, Strategy and Financial Analysis

30.2.4. Quest Diagnostics Incorporated Overview, Products and Services, Strategy and Financial Analysis

30.2.5. Astellas Pharma Inc. Overview, Products and Services, Strategy and Financial Analysis

31. Rare Disease Diagnostics Market Other Major And Innovative Companies

31.1. Eurofins Scientific SE

31.2. Agilent Technologies Inc.

31.3. PerkinElmer Inc.

31.4. Sanofi Genzyme

31.5. Illumina Inc.

31.6. Bio-Rad Laboratories Inc.

31.7. Qiagen NV

31.8. BioMarin Pharmaceutical Inc.

31.9. OPKO Health Inc.

31.10. Sarepta Therapeutics Inc.

31.11. Natera Inc.

31.12. Invitae Corporation

31.13. Ultragenyx Pharmaceutical Inc.

31.14. Travere Therapeutics Inc.

31.15. BGI Genomics Co. Ltd.

32. Global Rare Disease Diagnostics Market Competitive Benchmarking And Dashboard

33. Key Mergers And Acquisitions In The Rare Disease Diagnostics Market

34. Recent Developments In The Rare Disease Diagnostics Market

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

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

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

35.3 Rare Disease Diagnostics 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 Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 4: Global Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 5: Global Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 6: Global Rare Disease Diagnostics Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 7: Global Rare Disease Diagnostics Market, Segmentation By End User, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 8: Global Rare Disease Diagnostics Market, Sub-Segmentation Of Genetic Test, By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 9: Global Rare Disease Diagnostics Market, Sub-Segmentation Of General Lab Test, By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 10: Global Rare Disease Diagnostics Market, Sub-Segmentation Of Imaging Test, By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 11: Global Rare Disease Diagnostics Market, Split By Region, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 12: Global Rare Disease Diagnostics Market, Split By Country, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 13: Asia-Pacific, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 14: Asia-Pacific, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 15: Asia-Pacific, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 16: China, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 17: China, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 18: China, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 19: India, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 20: India, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 21: India, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 22: Japan, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 23: Japan, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 24: Japan, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 25: Australia, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 26: Australia, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 27: Australia, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 28: Indonesia, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 29: Indonesia, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 30: Indonesia, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 31: South Korea, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 32: South Korea, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 33: South Korea, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 34: Western Europe, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 35: Western Europe, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 36: Western Europe, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 37: UK, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 38: UK, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 39: UK, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 40: Germany, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 41: Germany, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 42: Germany, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 43: France, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 44: France, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 45: France, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 46: Italy, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 47: Italy, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 48: Italy, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 49: Spain, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 50: Spain, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 51: Spain, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 52: Eastern Europe, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 53: Eastern Europe, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 54: Eastern Europe, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 55: Russia, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 56: Russia, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 57: Russia, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 58: North America, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 59: North America, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 60: North America, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 61: USA, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 62: USA, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 63: USA, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 64: Canada, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 65: Canada, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 66: Canada, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 67: South America, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 68: South America, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 69: South America, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 70: Brazil, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 71: Brazil, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 72: Brazil, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 73: Middle East, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 74: Middle East, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 75: Middle East, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 76: Africa, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 77: Africa, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 78: Africa, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Table 79: Thermo Fisher Scientific Inc. Financial Performance

Table 80: Roche Diagnostics Financial Performance

Table 81: Laboratory Corporation of America Holdings Financial Performance

Table 82: Quest Diagnostics Incorporated Financial Performance

Table 83: Astellas Pharma 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 Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 4: Global Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 5: Global Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 6: Global Rare Disease Diagnostics Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 7: Global Rare Disease Diagnostics Market, Segmentation By End User, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 8: Global Rare Disease Diagnostics Market, Sub-Segmentation Of Genetic Test, By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 9: Global Rare Disease Diagnostics Market, Sub-Segmentation Of General Lab Test, By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 10: Global Rare Disease Diagnostics Market, Sub-Segmentation Of Imaging Test, By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 11: Global Rare Disease Diagnostics Market, Split By Region, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 12: Global Rare Disease Diagnostics Market, Split By Country, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 13: Asia-Pacific, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 14: Asia-Pacific, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 15: Asia-Pacific, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 16: China, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 17: China, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 18: China, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 19: India, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 20: India, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 21: India, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 22: Japan, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 23: Japan, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 24: Japan, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 25: Australia, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 26: Australia, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 27: Australia, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 28: Indonesia, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 29: Indonesia, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 30: Indonesia, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 31: South Korea, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 32: South Korea, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 33: South Korea, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 34: Western Europe, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 35: Western Europe, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 36: Western Europe, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 37: UK, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 38: UK, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 39: UK, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 40: Germany, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 41: Germany, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 42: Germany, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 43: France, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 44: France, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 45: France, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 46: Italy, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 47: Italy, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 48: Italy, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 49: Spain, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 50: Spain, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 51: Spain, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 52: Eastern Europe, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 53: Eastern Europe, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 54: Eastern Europe, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 55: Russia, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 56: Russia, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 57: Russia, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 58: North America, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 59: North America, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 60: North America, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 61: USA, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 62: USA, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 63: USA, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 64: Canada, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 65: Canada, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 66: Canada, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 67: South America, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 68: South America, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 69: South America, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 70: Brazil, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 71: Brazil, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 72: Brazil, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 73: Middle East, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 74: Middle East, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 75: Middle East, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 76: Africa, Rare Disease Diagnostics Market, Segmentation By Test Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 77: Africa, Rare Disease Diagnostics Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 78: Africa, Rare Disease Diagnostics Market, Segmentation By Sample Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

Figure 79: Thermo Fisher Scientific Inc. Financial Performance

Figure 80: Roche Diagnostics Financial Performance

Figure 81: Laboratory Corporation of America Holdings Financial Performance

Figure 82: Quest Diagnostics Incorporated Financial Performance

Figure 83: Astellas Pharma Inc. Financial Performance

Latest Market Developments in Ketamine Clinic Industry: Forecast 2025–2029

Competitive and Market Trend Analysis of Lifestyle Diseases Apps Industry Through 2029

Industry Trends Show Locum Tenens Staffing Market Set to Expand at 11.6% CAGR Until 2029

In-Depth Lung Cancer Surgery Market Report: Business Trends, Growth Factors, and Forecast to 2029

A strategic 2025 report providing key insights, trends and forecasts for the global live attenuated polio vaccine market between 2025–2034.

A 2025 forecast report outlining growth projections, key trends and regulatory landscape of the medicated shampoo market through 2029.

Explore future trends in the global pharma and biotech CRM software market. Understand market growth, drivers, and industry outlook through 2034.

Explore market drivers and forecast in the nasal spray influenza vaccine sector through 2025–2034.

Merkel Cell Carcinoma Treatment Global Market Report 2025 – By Diagnosis (Physical Examination, Sentinel Node Biopsy, Imaging Test), By Therapy (Surgical Excision, Micrographic Surgery, Radiation, Chemotherapy, Other The...

View Report

More Electric Aircraft Global Market Report 2025 – By Type( Fixed Wing, Rotary Wing, Hybrid Wing), By Aircraft System( Propulsion System, Airframe System ), By Application( Power Generation, Power Distribution, Power Con...

View Report

Allogeneic T Cell Therapies Global Market Report 2025 – By Product Type (Chimeric Antigen Receptor (CAR) T Cell Therapies, T Cell Receptor (TCR) Therapies, Other Product Types), By Antigen Type (CD 19, CD 20, Egfrvlll, G...

View Report

Test And Measurement Equipment Global Market Report 2025 – By Product (General Purpose Test Equipment (GPTE), Mechanical Test Equipment (MTE)), By Service Type (Calibration Services, Repair Services Or After-Sales Servic...

View Report

Aircraft Sensors Global Market Report 2025 – By Sensor Type (Temperature, Pressure, Position, Flow, Torque, Radar, Accelerometer, Proximity), By Aircraft Type (Narrow-Body Aircraft, Wide-Body Aircraft, Very Large Aircraf...

View Report

Soft Drinks Global Market Report 2025 – By Product (Carbonated Soft Drinks, Juices And juice concentrates, Bottled Water, Ready-To-Drink (RTD) Tea And Coffee, Other Products), By Flavors (Cola, Citrus, Other Flavors), By...

View Report

Plasma Powder Global Market Report 2025 – By Source (Bovine, Porcine, Ovine, Other Sources), By Form (Dry, Wet), By Sales Channel (Online, Offline), By Application (Pet Food, Pig Feed, Poultry Feed, Aqua Feed, Ruminant F...

View Report

Dental Implants And Prosthetics Contract Manufacturing Global Market Report 2025 – By Product Type (Dental Implants, Dental Prosthetics), By Material (Titanium, Zirconium, Porcelain Fused Metal (PFM), All-ceramics, Other...

View Report

Frequently Asked Questions

What is the definition of the Rare Disease Diagnostics market?

How will the Rare Disease Diagnostics market drivers and restraints affect the market dynamics? What forces will shape the Rare Disease Diagnostics industry going forward?

The market major growth driver - A Surge In Rare Disease Incidence And Diagnostics. For further insights on this market, request a sample here

What is the forecast market size or the forecast market value of the Rare Disease Diagnostics market?

The rare disease diagnostics market size has grown strongly in recent years. It will grow from $35.23 billion in 2024 to $38.14 billion in 2025 at a compound annual growth rate (CAGR) of 8.3%. The growth in the historic period can be attributed to the rise in demand for cloud-based diagnostics, increased focus on improving efficiency, increased prevalence of neurological disease, increased immunological disorders, increased healthcare spending. The rare disease diagnostics market size is expected to see rapid growth in the next few years. It will grow to " $56.08 billion in 2029 at a compound annual growth rate (CAGR) of 10.1%. The growth in the forecast period can be attributed to increasing prevalence of rare diseases, increasing government initiatives, increasing number of hospitals and diagnostic laboratories, growing hematology diseases, increasing healthcare infrastructure. Major trends in the forecast period include advancements in genetic testing technologies, introduction of whole-genome sequencing and next-generation sequencing (NGS), extensive investments, strategic collaborations for research initiatives. For further insights on this market, request a sample here

How is the Rare Disease Diagnostics market segmented?

The rare disease diagnosticsmarket covered in this report is segmented –
1) By Test Type: Genetic Test; General Lab Test; Imaging Test
2) By Technology: Capillary Sequencing; Whole Genome Sequencing; Whole Exome Sequencing; Microarrays
3) By Sample Type: Deoxyribonucleic Acid (DNA) Sample; Buccal Swab Sample; Blood; Saliva
4) By Disease Type: Gastroenterology Disease; Endocrine And Metabolism Disorders Disease; Hematology And Oncology Disease; Dermatology Disease; Cardiovascular Disorders; Neurology Disease
5) By End User: Hospital Laboratories; Diagnostics Laboratories; Genetic Testing Laboratories; Cancer Research Laboratories Subsegments:
1) By Genetic Test: Whole Genome Sequencing; Targeted Gene Panels; Exome Sequencing; Carrier Testing
2) By General Lab Test: Blood Tests; Biochemical Assays; Urine Tests; Cytogenetic Tests
3) By Imaging Test: MRI (Magnetic Resonance Imaging); CT (Computed Tomography) Scans; Ultrasound; X-Rays For further insights on this market, request a sample here

Which region has the largest share of the Rare Disease Diagnostics market? What are the other regions covered in the report?

North America was the largest region in the rare disease diagnostics market in 2024. Asia-Pacific is expected to be the fastest-growing region in the forecast period. The regions covered in the rare disease diagnostics 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.

Who are the major players in the Rare Disease Diagnostics market?

What are the key trends in the Rare Disease Diagnostics market?

Major trends in this market include Technological Advancements Reshaping Diagnostics. For further insights on this market, request a sample here.

Book your 30 minutes free consultation with our research experts

Rare Disease Diagnostics Global Market Report 2025

Rare Disease Diagnostics Market Overview

What Is Covered Under Rare Disease Diagnostics Market?

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

What Is The Rare Disease Diagnostics Market Growth Forecast?

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

How Is The Rare Disease Diagnostics Market Segmented?

What Is Driving The Rare Disease Diagnostics Market? A Surge In Rare Disease Incidence And Diagnostics

What Is Driving The Rare Disease Diagnostics Market? Rare Disease Diagnostics Market Thrives With Aging Populations

Who Are The Major Players In The Global Rare Disease Diagnostics Market?

What Are The Key Trends Of The Global Rare Disease Diagnostics Market? Technological Advancements Reshaping Diagnostics

What Are The Key Trends Of The Global Rare Disease Diagnostics Market? Revolutionary Genetic Testing Approach For Rare Cancer Diagnoses

Rare Disease Diagnostics Market Merger And Acquisition: Sema4’s Acquisition Of Genedx Reshapes Rare Disease Diagnostics Landscape

Regional Outlook For The Global Rare Disease Diagnostics Market

What Defines the Rare Disease Diagnostics Market?

How is Market Value Defined and Measured?

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

Rare Disease Diagnostics Market Report Forecast Analysis

Table Of Contents

List Of Tables

List Of Figures

Frequently Asked Questions