PUBLISHER: Polaris Market Research | PRODUCT CODE: 1504919
PUBLISHER: Polaris Market Research | PRODUCT CODE: 1504919
U.S. Rare Disease Diagnostics Market Share, Size, Trends, Industry Analysis Report, By Disease Type, By Product Type, By Sample Type, By Technology, By Test Type, By Age, By Trait Type, And By End Use; Segment Forecast, 2024- 2032
The U.S. rare disease diagnostics market size is expected to reach USD 28,567.83 million by 2032, according to a new study by Polaris Market Research. The report "U.S. Rare Disease Diagnostics Market Share, Size, Trends, Industry Analysis Report, By Disease Type (Gastroenterology Disease, Endocrine and Metabolism Disorders Disease, Cardiovascular Disorders, Musculoskeletal Disorders, Neurology Disease, Hematology and Oncology Disease, Dermatology Disease, And Others), By Product Type, By Sample Type, By Technology, By Test Type, By Age, By Trait Type, And By End Use; Segment Forecast, 2024 - 2032" gives a detailed insight into current market dynamics and provides analysis on future market growth.
Rare diseases are also called as orphan diseases, affect a small section of the population and often present diagnostic challenges owing to their infrequency and complexity. However, advancements in diagnostic technologies, coupled with increasing awareness and research efforts, have led to significant developments in the field of rare disease diagnostics.
The primary growth drivers of the U.S. rare disease diagnostics market are the expanding scope of genetic testing and molecular diagnostics. Genetic testing plays a crucial role in the diagnosis of rare genetic disorders by identifying underlying genetic mutations and variations associated with these conditions. With the advent of next-generation sequencing (NGS) and other advanced molecular diagnostic techniques, healthcare providers can now conduct comprehensive genetic analyses with higher throughput and accuracy, facilitating the timely and accurate diagnosis of rare diseases.
Furthermore, the growing emphasis on early detection and personalized medicine has propelled the demand for rare disease diagnostics in the United States. Early diagnosis of rare diseases is critical for initiating appropriate treatment interventions and improving patient outcomes. Moreover, the emergence of precision medicine initiatives has underscored the importance of tailored diagnostic approaches based on individual genetic profiles, further driving the adoption of advanced diagnostic technologies for rare diseases.
In addition to technological advancements, increasing awareness among healthcare professionals, patients, and advocacy groups has contributed to the growth of the rare disease diagnostics market in the United States. Efforts to raise awareness about rare diseases, improve diagnostic capabilities, and expand access to testing services have led to earlier diagnosis and improved management of rare conditions. Additionally, collaborations between diagnostic companies, research institutions, and patient advocacy groups have facilitated research, development, and commercialization of innovative diagnostic solutions for rare diseases.
U.S. Rare Disease Diagnostics Market Report Highlights
In 2023, inherited segment held the largest share in the U.S. rare disease diagnostics market. The growing awareness of inherited diseases among healthcare professionals, patients, and the general public. Screening programs for genetic disorders, such as newborn screening and carrier screening, have become more widespread, leading to early detection and diagnosis of inherited diseases. As a result, the demand for inherited diseases diagnostics has increased significantly in recent years.
The diagnostic laboratories segment is expected to grow at the fastest CAGR over the forecasted years. As awareness of rare diseases grows and healthcare providers increasingly recognize the importance of early and accurate diagnosis, the demand for specialized testing services provided by diagnostic laboratories is expected to rise significantly.
The key market players are Agilent Technologies, Inc., Ambry Genetics, Arup Laboratories, FDNA INC, GeneDx, LLC, Illumina, Inc., Invitae Corporation, Laboratory Corporation of America Holdings, Quest Diagnostics.
Polaris Market Research has segmented the U.S. rare disease diagnostics market report based on disease type, product type, sample type, technology, test type, age, trait type, and end use.
U.S. Rare Disease Diagnostics, Disease Type Outlook (Revenue - USD Million, 2019 - 2032)
- Gastroenterology Disease
- Endocrine and Metabolism Disorders Disease
- Cardiovascular Disorders
- Musculoskeletal Disorders
- Neurology Disease
- Haematology and Oncology Disease
- Dermatology Disease
- Others
U.S. Rare Disease Diagnostics, Sample Type Outlook (Revenue - USD Million, 2019 - 2032)
- Blood Sample
- Buccal Swab Sample
- Others
U.S. Rare Disease Diagnostics, Technology Outlook (Revenue - USD Million, 2019 - 2032)
- Next-Generation Sequencing
- Whole Exome
- Whole Genome
- Array Technology
- PCR-Based Testing
- FISH
- Sanger Sequencing
- Karyotyping
U.S. Rare Disease Diagnostics, Test Type Outlook (Revenue - USD Million, 2019 - 2032)
- Genetic Test
- General Lab Test
- Imaging Test
U.S. Rare Disease Diagnostics, Age Outlook (Revenue - USD Million, 2019 - 2032)
- Children
- Adult
U.S. Rare Disease Diagnostics, Trait Type Outlook (Revenue - USD Million, 2019 - 2032)
- Inherited
- Acquired
U.S. Rare Disease Diagnostics, End Use Outlook (Revenue - USD Million, 2019 - 2032)
- Research Laboratories & Cros
- Hospitals & Clinics
- Diagnostic Laboratories
Table of Contents
1. Introduction
- 1.1. Report Description
- 1.1.1. Objectives of the Study
- 1.1.2. Market Scope
- 1.1.3. Assumptions
- 1.2. Stakeholders
2. Executive Summary
- 2.1. Market Highlights
3. Research Methodology
- 3.1. Overview
- 3.1.1. Data Mining
- 3.1.2. Data Sources
- 3.1.2.1. Primary Sources
- 3.1.2.2. Secondary Sources
4. U.S. Rare Disease Diagnostics Market Insights
- 4.1. U.S. Rare Disease Diagnostics Market - Industry Snapshot
- 4.2. U.S. Rare Disease Diagnostics Market Dynamics
- 4.2.1. Drivers and Opportunities
- 4.2.1.1. Increased awareness and education have been projected to spur product demand
- 4.2.1.2. Increasing focus on early diagnosis and intervention
- 4.2.2. Restraints and Challenges
- 4.2.2.1. The high cost associated with specialized diagnostic tests and procedure
- 4.2.1. Drivers and Opportunities
- 4.3. Porter's Five Forces Analysis
- 4.3.1. Bargaining Power of Suppliers (Moderate)
- 4.3.2. Threats of New Entrants: (Low)
- 4.3.3. Bargaining Power of Buyers (Moderate)
- 4.3.4. Threat of Substitute (Moderate)
- 4.3.5. Rivalry among existing firms (High)
- 4.4. PESTLE Analysis
- 4.5. U.S. Rare Disease Diagnostics Industry trends
- 4.6. Value Chain Analysis
- 4.7. COVID-19 Impact Analysis
5. U.S. Rare Disease Diagnostics Market, by Product Type
- 5.1. Key Findings
- 5.2. Introduction
- 5.2.1. U.S. Rare Disease Diagnostics, by Product Type, 2019-2032 (USD Million)
- 5.3. Kits & Reagents
- 5.3.1. U.S. Rare Disease Diagnostics Market, by Kits & Reagents, 2019-2032 (USD Million)
- 5.4. Instruments
- 5.4.1. U.S. Rare Disease Diagnostics Market, by Instruments, 2019-2032 (USD Million)
- 5.5. Software
- 5.5.1. U.S. Rare Disease Diagnostics Market, by Software, 2019-2032 (USD Million)
6. U.S. Rare Disease Diagnostics Market, by Sample Type
- 6.1. Key Findings
- 6.2. Introduction
- 6.2.1. U.S. Rare Disease Diagnostics Market, by Sample Type, 2019-2032 (USD Million)
- 6.3. Blood Sample
- 6.3.1. U.S. Rare Disease Diagnostics Market, by Blood Sample, 2019-2032 (USD Million)
- 6.4. Buccal Swab Sample
- 6.4.1. U.S. Rare Disease Diagnostics Market, by Buccal Swab Sample, 2019-2032 (USD Million)
- 6.5. Others
- 6.5.1. U.S. Rare Disease Diagnostics Market, by Others, 2019-2032 (USD Million)
7. U.S. Rare Disease Diagnostics Market, by Test Type
- 7.1. Key Findings
- 7.2. Introduction
- 7.2.1. U.S. Rare Disease Diagnostics Market, by Test Type, 2019-2032 (USD Million)
- 7.3. Genetic Test
- 7.3.1. U.S. Rare Disease Diagnostics Market, by Genetic Test, 2019-2032 (USD Million)
- 7.4. General Lab Test
- 7.4.1. U.S. Rare Disease Diagnostics Market, by General Lab Test, 2019-2032 (USD Million)
- 7.5. Imaging Test
- 7.5.1. U.S. Rare Disease Diagnostics Market, by Imaging Test, 2019-2032 (USD Million)
8. U.S. Rare Disease Diagnostics Market, by Technology
- 8.1. Key Findings
- 8.2. Introduction
- 8.2.1. U.S. Rare Disease Diagnostics Market, by Technology, 2019-2032 (USD Million)
- 8.3. Next-Generation Sequencing
- 8.3.1. U.S. Rare Disease Diagnostics Market, by Next-Generation Sequencing, 2019-2032 (USD Million)
- 8.4. Whole Exome
- 8.4.1. U.S. Rare Disease Diagnostics Market, by Whole Exome, 2019-2032 (USD Million)
- 8.5. Whole Genome
- 8.5.1. U.S. Rare Disease Diagnostics Market, by Whole Genome, 2019-2032 (USD Million)
- 8.6. Array Technology
- 8.6.1. U.S. Rare Disease Diagnostics Market, by Array Technology, 2019-2032 (USD Million)
- 8.7. PCR-Based Testing
- 8.7.1. U.S. Rare Disease Diagnostics Market, by PCR-Based Testing, 2019-2032 (USD Million)
- 8.8. FISH
- 8.8.1. U.S. Rare Disease Diagnostics Market, by FISH, 2019-2032 (USD Million)
- 8.9. Sanger Sequencing
- 8.9.1. U.S. Rare Disease Diagnostics Market, by Sanger Sequencing, 2019-2032 (USD Million)
- 8.10. Karyotyping
- 8.10.1. U.S. Rare Disease Diagnostics Market, by Karyotyping, 2019-2032 (USD Million)
9. U.S. Rare Disease Diagnostics Market, by Disease Type
- 9.1. Key Findings
- 9.2. Introduction
- 9.2.1. U.S. Rare Disease Diagnostics Market, by Disease Type, 2019-2032 (USD Million)
- 9.3. Gastroenterology Disease
- 9.3.1. U.S. Rare Disease Diagnostics Market, by Gastroenterology Disease, 2019-2032 (USD Million)
- 9.4. Endocrine and Metabolism Disorders Disease
- 9.4.1. U.S. Rare Disease Diagnostics Market, by Endocrine and Metabolism Disorders Disease, 2019-2032 (USD Million)
- 9.5. Cardiovascular Disorders
- 9.5.1. U.S. Rare Disease Diagnostics Market, by Cardiovascular Disorders, 2019-2032 (USD Million)
- 9.6. Musculoskeletal Disorders
- 9.6.1. U.S. Rare Disease Diagnostics Market, by Musculoskeletal Disorders, 2019-2032 (USD Million)
- 9.7. Neurology Disease
- 9.7.1. U.S. Rare Disease Diagnostics Market, by Neurology Disease, 2019-2032 (USD Million)
- 9.8. Haematology and Oncology Disease
- 9.8.1. U.S. Rare Disease Diagnostics Market, by Haematology and Oncology Disease, 2019-2032 (USD Million)
- 9.9. Dermatology Disease
- 9.9.1. U.S. Rare Disease Diagnostics Market, by Dermatology Disease, 2019-2032 (USD Million)
- 9.10. Others
- 9.10.1. U.S. Rare Disease Diagnostics Market, by Others, 2019-2032 (USD Million)
10. U.S. Rare Disease Diagnostics Market, by Age
- 10.1. Key Findings
- 10.2. Introduction
- 10.2.1. U.S. Rare Disease Diagnostics Market, by Disease Type, 2019-2032 (USD Million)
- 10.3. Children
- 10.3.1. U.S. Rare Disease Diagnostics Market, by Children, 2019-2032 (USD Million)
- 10.4. Adult
- 10.4.1. U.S. Rare Disease Diagnostics Market, by Adult, 2019-2032 (USD Million)
11. U.S. Rare Disease Diagnostics Market, by Trait Type
- 11.1. Key Findings
- 11.2. Introduction
- 11.2.1. U.S. Rare Disease Diagnostics Market, by Disease Type, 2019-2032 (USD Million)
- 11.3. Inherited
- 11.3.1. U.S. Rare Disease Diagnostics Market, by Inherited, 2019-2032 (USD Million)
- 11.4. Acquired
- 11.4.1. U.S. Rare Disease Diagnostics Market, by Acquired, 2019-2032 (USD Million)
12. U.S. Rare Disease Diagnostics Market, by End Use
- 12.1. Key Findings
- 12.2. Introduction
- 12.2.1. U.S. Rare Disease Diagnostics Market, by Disease Type, 2019-2032 (USD Million)
- 12.3. Research Laboratories & Cros
- 12.3.1. U.S. Rare Disease Diagnostics Market, by Research Laboratories & Cros, 2019-2032 (USD Million)
- 12.4. Hospitals & Clinics
- 12.4.1. U.S. Rare Disease Diagnostics Market, by Hospitals & Clinics, 2019-2032 (USD Million)
- 12.5. Diagnostic Laboratories
- 12.5.1. U.S. Rare Disease Diagnostics Market, by Diagnostic Laboratories, 2019-2032 (USD Million)
13. Competitive Landscape
- 13.1. Expansion and Acquisition Analysis
- 13.1.1. Expansion
- 13.1.2. Acquisitions
- 13.2. Partnerships/Collaborations/Agreements/Exhibitions
14. Company Profiles
- 14.1. Agilent Technologies, Inc.
- 14.1.1. Company Overview
- 14.1.2. Financial Performance
- 14.1.3. Product Type Benchmarking
- 14.1.4. Recent Development
- 14.2. Ambry Genetics
- 14.2.1. Company Overview
- 14.2.2. Financial Performance
- 14.2.3. Product Type Benchmarking
- 14.2.4. Recent Development
- 14.3. Arup Laboratories
- 14.3.1. Company Overview
- 14.3.2. Financial Performance
- 14.3.3. Product Type Benchmarking
- 14.3.4. Recent Development
- 14.4. FDNA INC
- 14.4.1. Company Overview
- 14.4.2. Financial Performance
- 14.4.3. Product Type Benchmarking
- 14.4.4. Recent Development
- 14.5. GeneDx, LLC
- 14.5.1. Company Overview
- 14.5.2. Financial Performance
- 14.5.3. Product Type Benchmarking
- 14.5.4. Recent Development
- 14.6. Illumina, Inc
- 14.6.1. Company Overview
- 14.6.2. Financial Performance
- 14.6.3. Product Type Benchmarking
- 14.6.4. Recent Development
- 14.7. Invitae Corporation
- 14.7.1. Company Overview
- 14.7.2. Financial Performance
- 14.7.3. Product Type Benchmarking
- 14.7.4. Recent Development
- 14.8. Laboratory Corporation of America Holdings
- 14.8.1. Company Overview
- 14.8.2. Financial Performance
- 14.8.3. Product Type Benchmarking
- 14.8.4. Recent Development
- 14.9. Quest Diagnostics
- 14.9.1. Company Overview
- 14.9.2. Financial Performance
- 14.9.3. Product Type Benchmarking
- 14.9.4. Recent Development
List of Tables
- Table 1 U.S. Rare Disease Diagnostics Market, by Sample Type, 2019-2032 (USD Million)
- Table 2 U.S. Rare Disease Diagnostics Market, by Product Type, 2019-2032 (USD Million)
- Table 3 U.S. Rare Disease Diagnostics Market, by Test Type, 2019-2032 (USD Million)
- Table 4 U.S. Rare Disease Diagnostics Market, by Technology, 2019-2032 (USD Million)
- Table 5 U.S. Rare Disease Diagnostics Market, by Disease Type, 2019-2032 (USD Million)
- Table 6 U.S. Rare Disease Diagnostics Market, by Age, 2019-2032 (USD Million)
- Table 7 U.S. Rare Disease Diagnostics Market by Trait Type, 2019-2032 (USD Million)
- Table 8 U.S. Rare Disease Diagnostics Market by End Use, 2019-2032 (USD Million)
List of Figures
- Figure 1 U.S. Rare Disease Diagnostics Market, 2019-2032 (USD Million)
- Figure 2 Integrated Ecosystem
- Figure 3 Research Methodology: Top-Down & Bottom-Up Approach
- Figure 4 Market by Countries
- Figure 5 Porter's Five Forces
- Figure 6 Market by Sample Type
- Figure 7 U.S. Rare Disease Diagnostics Market, by Sample Type, 2021 & 2030 (USD Million)
- Figure 8 Market by Product Type
- Figure 9 U.S. Rare Disease Diagnostics Market, by Product Type, 2021 & 2030 (USD Million)
- Figure 10 Market by Test Type
- Figure 11 U.S. Rare Disease Diagnostics Market, by Sample Type, 2021 & 2030 (USD Million)
- Figure 12 Market by Technology
- Figure 13 U.S. Rare Disease Diagnostics Market, by Technology, 2021 & 2030 (USD Million)
- Figure 14 Market by Disease Type
- Figure 15 U.S. Rare Disease Diagnostics Market, by Disease Type, 2021 & 2030 (USD Million)
- Figure 16 Market by Age
- Figure 17 U.S. Rare Disease Diagnostics Market, by Age, 2021 & 2030 (USD Million)
- Figure 18 Market by Trait Type
- Figure 19 U.S. Rare Disease Diagnostics Market, by Trait Type, 2021 & 2030 (USD Million)
- Figure 20 Market by End Use
- Figure 21 U.S. Rare Disease Diagnostics Market, by End Use, 2021 & 2030 (USD Million)
- Figure 22 Strategic Analysis - U.S. Rare Disease Diagnostics Market
