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市场调查报告书
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1808852

罕见疾病诊断市场（按技术、应用、最终用户、国家和地区）—2025 年至 2032 年全球产业分析、市场规模、市场份额及预测

Rare Disease Diagnostics Market, By Technology, By Application, By End-user, By Country, and By Region - Global Industry Analysis, Market Size, Market Share & Forecast from 2025-2032
出版日期: | 出版商: AnalystView Market Insights | 英文 386 Pages | 商品交期: 2-3个工作天内

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简介目录

2024 年罕见疾病诊断市场规模价值 16.789 亿美元，2025 年至 2032 年的复合年增长率为 14.5%。

罕见疾病诊断市场专注于开发、生产和终端用户使用专门用于识别罕见疾病的诊断工具和检测方法，这些疾病仅影响一小部分人口。这些疾病通常具有遗传性、慢性且复杂，因此早期准确的诊断对于有效的治疗和管理至关重要。该市场涵盖各种技术，例如基因检测、分子诊断、新一代定序和生化检测。随着人们对罕见疾病的认识不断提高、诊断技术的进步以及政府推动罕见疾病研究的倡议，推动了该市场的成长。

此外，罕见疾病患者登记数量的增加以及医疗保健提供者和诊断公司之间的合作也支持了市场的扩张。挑战包括检测成本高昂以及发展中地区获取服务的机会有限。然而，个人化医疗和人工智慧诊断领域的创新预计将进一步推动市场发展。总体而言，罕见疾病诊断市场在改善患者预后和支持精准医疗保健方法方面发挥着至关重要的作用。

罕见疾病诊断市场-市场动态

先进基因检测技术的日益普及推动了罕见疾病诊断市场的发展。

先进基因检测技术的日益普及是罕见疾病诊断市场的关键驱动力。这些技术，包括新一代定序和全基因组分析，能够更精准、更快速地识别先前难以诊断的罕见遗传疾病。因此，患者能够更早、更准确地获得诊断，从而显着改善治疗效果和生活品质。

基因检测的进步也降低了成本，提高了可近性，鼓励医疗保健提供者和患者更广泛地使用基因检测。此外，非侵入性产前检测和液体活检等创新技术正在拓展诊断的可能性。这项技术进步得到了研究资金和监管部门批准的增加的支持，从而推动了市场的成长。总而言之，先进基因检测的整合正在改变罕见疾病的诊断方式，使其在全球范围内更加有效、更易于获取。

罕见疾病诊断市场—关键洞察

根据我们的研究分析师的分析，预计全球市场在预测期内（2025-2032 年）的年复合成长率约为 14.5%。

根据技术细分，预计基因检测将在 2024 年占据最大市场份额

根据应用细分，遗传疾病是 2024 年的主要应用

根据最终用户细分，医院和诊所是 2024 年的主要最终用户

按地区划分，北美是 2024 年的主要收入来源

罕见疾病诊断市场-細項分析：

全球罕见疾病诊断市场根据技术、应用、最终用户和地区进行细分。

根据技术，市场可分为五大类别：基因检测、分子诊断、新一代定序 (NGS)、生化分析和免疫分析。在罕见疾病诊断市场的各种技术中，基因检测占据主导地位。基因检测可以直接分析个体的 DNA，以识别导致罕见遗传疾病的突变或变异。这项技术可提供精准的早期诊断，这对于管理通常复杂且难以透过传统方法检测的疾病至关重要。基因检测的进步，包括更经济实惠且快速的定序技术，已在全球范围内的医疗保健提供者中推广使用。

此外，基因检测能够根据患者的基因特征制定个人化治疗方案，从而支持个人化医疗。它能够诊断从遗传性代谢紊乱到罕见癌症等各种罕见疾病，因此不可或缺。此外，日益增长的认知度和政府的支持也推动了基因检测融入常规临床实践。新生儿筛检计画和产前基因检测的推广进一步提升了基因检测在这一细分市场的主导地位。总体而言，基因检测的准确性、速度和不断扩展的应用领域，牢固确立了其在罕见疾病诊断领域的领先地位。

根据应用，市场可分为五类：遗传性疾病、神经系统疾病、代谢性疾病、罕见癌症和其他疾病。遗传性疾病是罕见疾病诊断市场中最主要的应用领域。这些疾病是由个体DNA异常引起的，通常遗传自父母，因此早期准确诊断对于有效治疗至关重要。遗传性疾病涵盖多种疾病，包括囊性纤维化、肌肉营养不良症和亨廷顿氏病，这些疾病对患者的健康和生活品质有显着影响。

基因检测和新一代定序等诊断技术透过检测特定基因突变，在识别这些疾病方面特别有效。医疗保健专业人员和患者对早期诊断重要性的认识不断提高，推动了这一领域的需求。此外，政府倡议和罕见疾病倡导团体高度重视遗传性疾病，并为其提供资金和研究支持。标靶疗法的日益普及也增强了对精准基因诊断的需求。由于遗传性疾病通常在生命早期显现，新生儿筛检计画有助于这一领域的扩展。总体而言，对精准识别和个人化治疗方案的需求使遗传性疾病成为罕见疾病诊断领域的主要应用领域。

罕见疾病诊断市场—地理洞察

北美凭藉其完善的医疗基础设施和对医学研究的大量投入，在罕见疾病诊断市场占据强势地位。该地区拥有先进的诊断实验室，并广泛应用诸如新一代定序等尖端技术。政府的大力支持，包括对罕见疾病研究和病患权益倡议计画的资助，进一步巩固了市场格局。

医疗保健提供者、研究机构和诊断公司之间的合作加速了新型诊断工具的创新和应用。此外，医生和患者对罕见疾病的认识不断提高，推动了对早期准确诊断的需求。许多罕见疾病患者登记和临床试验的存在也促进了市场的成长。总体而言，在良好的监管环境和强大的医疗生态系统的支持下，北美仍然是罕见疾病诊断技术进步和商业化的关键枢纽。

美国是罕见疾病诊断市场的领先国家，得益于其先进的医疗体系和对创新的高度重视。该国拥有大量致力于开发新型诊断技术的科学研究机构和生技公司。政府机构积极支持罕见疾病相关项目，透过资金和监管框架加速诊断检测的审批。此外，美国的病患权益组织在提高公众意识和改善诊断服务可近性方面发挥着至关重要的作用。尖端基因和分子检测方法的广泛应用提高了罕见疾病诊断的准确性和速度。

罕见疾病诊断市场-竞争格局：

罕见疾病诊断市场竞争激烈，主要参与者专注于创新、建立策略合作伙伴关係并扩展产品组合，以保持强大的市场影响力。 Illumina、赛默飞世尔科技、罗氏诊断、凯杰和伯乐实验室等公司透过大力投资研发来提高诊断的准确性和速度，引领市场发展。

其他重要参与者，例如雅培实验室 (Abbott Laboratories)、Invitae Corporation、Myriad Genetics 和 Natera, Inc.，则透过先进的基因检测和分子诊断解决方案贡献力量。竞争还涉及与医疗保健提供者和学术机构的合作，以加速罕见疾病的研究和诊断。此外，各公司正在努力提高诊断测试的可及性并降低成本，以覆盖更广泛的患者群体。这种充满活力的格局推动着技术的持续进步，并为新兴公司进入市场创造了机会。

最新动态：

2025 年 3 月，Illumina 推出了新款 MiSeq i100 基因定序仪，旨在让全球各地的小型实验室都能以更实惠的价格获得基因定序服务。

目录

第一章：罕见疾病诊断市场概述

  • 研究范围
  • 市场估计年限

第二章：执行摘要

  • 市场片段
    • 罕见疾病诊断市场技术片段
    • 罕见疾病诊断市场应用片段
    • 罕见疾病诊断市场（按最终用户）
    • 罕见疾病诊断市场（按国家/地区）
    • 罕见疾病诊断市场（按地区）
  • 竞争洞察

第三章：罕见疾病诊断关键市场趋势

  • 罕见疾病诊断市场驱动因素
    • 市场驱动因素的影响分析
  • 罕见疾病诊断市场限制
    • 市场限制的影响分析
  • 罕见疾病诊断市场机会
  • 罕见疾病诊断市场未来趋势

第四章：罕见疾病诊断产业研究

  • PEST分析
  • 波特五力分析
  • 成长前景图
  • 规范架构分析

第五章：罕见疾病诊断市场：地缘政治紧张局势升级的影响

  • COVID-19 疫情的影响
  • 俄乌战争的影响
  • 中东衝突的影响

第六章：罕见疾病诊断市场格局

  • 2024年罕见疾病诊断市占分析
  • 按主要製造商分類的细分数据
    • 成熟玩家分析
    • 新兴企业分析

第七章：罕见疾病诊断市场－依技术

  • 概述
    • 按技术细分的市场份额分析
    • 基因检测
    • 分子诊断
    • 下一代定序（NGS）
    • 生化分析
    • 免疫测定

第 8 章：罕见疾病诊断市场 - 按应用

  • 概述
    • 按应用细分市场占有率分析
    • 遗传性疾病
    • 神经系统疾病
    • 代谢紊乱
    • 罕见癌症
    • 其他的

第九章：罕见疾病诊断市场－按最终用户

  • 概述
    • 按最终用户细分的份额分析
    • 医院和诊所
    • 诊断实验室
    • 研究机构
    • 学术与政府研究中心

第 10 章：罕见疾病诊断市场 - 按地理划分

  • 介绍
    • 按地区分類的细分市场占有率分析
  • 北美洲
    • 概述
    • 北美罕见疾病诊断主要製造商
    • 北美市场规模及预测（按国家/地区）
    • 北美市场规模和预测（按技术）
    • 北美市场规模和预测（按应用）
    • 北美市场规模及预测（按最终用户）
    • 我们
    • 加拿大
  • 欧洲
    • 概述
    • 欧洲罕见疾病诊断主要製造商
    • 欧洲市场规模及预测（按国家/地区）
    • 欧洲市场规模与预测（按技术）
    • 欧洲市场规模和预测，按应用
    • 欧洲市场规模及预测（按最终用户）
    • 德国
    • 英国
    • 法国
    • 义大利
    • 西班牙
    • 荷兰
    • 瑞典
    • 俄罗斯
    • 波兰
    • 欧洲其他地区
  • 亚太地区 (APAC)
    • 概述
    • 亚太地区罕见疾病诊断主要製造商
    • 亚太地区市场规模及预测（依国家）
    • 亚太地区市场规模及预测（依技术）
    • 亚太地区市场规模及预测（按应用）
    • 亚太地区市场规模及预测（依最终用户）
    • 中国
    • 印度
    • 日本
    • 韩国
    • 澳洲
    • 印尼
    • 泰国
    • 菲律宾
    • 亚太地区其他地区
  • 拉丁美洲（LATAM）
    • 概述
    • 拉丁美洲罕见疾病诊断主要製造商
    • 拉丁美洲市场规模及预测（按国家/地区）
    • 拉丁美洲市场规模及预测（按技术）
    • 拉丁美洲市场规模及预测（按应用）
    • 拉丁美洲市场规模及预测（按最终用户）
    • 巴西
    • 墨西哥
    • 阿根廷
    • 哥伦比亚
    • 拉丁美洲其他地区
  • 中东和非洲（MEA）
    • 概述
    • 中东和非洲罕见疾病诊断主要製造商
    • MEA 市场规模及预测（依国家/地区）
    • MEA 市场规模及预测（依技术）
    • MEA 市场规模及预测（按应用）
    • MEA 市场规模及预测（依最终用户）
    • 沙乌地阿拉伯
    • 阿联酋
    • 以色列
    • 土耳其
    • 阿尔及利亚
    • 埃及
    • MEA 其余地区

第 11 章：罕见疾病诊断产业关键供应商分析

  • 竞争仪錶板
    • Competitive Benchmarking
    • Competitive Positioning
  • 公司简介
    • Illumina, Inc.
    • Thermo Fisher Scientific
    • Roche Diagnostics
    • QIAGEN NV
    • Bio-Rad Laboratories
    • Abbott Laboratories
    • Becton, Dickinson and Company
    • Invitae Corporation
    • Agilent Technologies
    • PerkinElmer, Inc.
    • Myriad Genetics
    • Natera, Inc.
    • F. Hoffmann-La Roche AG
    • Guardant Health
    • Twist Bioscience Corporation
    • Laboratory Corporation of America Holdings (LabCorp)
    • Charles River Laboratories
    • Sophia Genetics
    • Centogene AG
    • Blueprint Genetics

第 12 章：360 度分析师视角

第 13 章：附录

  • 研究方法
  • 参考
  • 缩写
  • 免责声明
  • 联络我们
简介目录
Product Code: ANV5489

Rare Disease Diagnostics Market size was valued at US$ 1,678.90 Million in 2024, expanding at a CAGR of 14.5% from 2025 to 2032.

The Rare Disease Diagnostics Market focuses on the development, production, and End-user of diagnostic tools and tests specifically designed to identify rare diseases, which affect a small percentage of the population. These diseases are often genetic, chronic, and complex, making early and accurate diagnosis crucial for effective treatment and management. The market includes various technologies such as genetic testing, molecular diagnostics, next-generation sequencing, and biochemical assays. Growth in this market is driven by increasing awareness of rare diseases, advancements in diagnostic technologies, and government initiatives promoting rare disease research.

Additionally, the rising number of rare disease patient registries and collaborations between healthcare providers and diagnostic companies support market expansion. Challenges include high costs of testing and limited access in developing regions. However, personalized medicine and innovations in artificial intelligence for diagnosis are expected to further boost market development. Overall, the Rare Disease Diagnostics Market plays a vital role in improving patient outcomes and supporting precision healthcare approaches.

Rare Disease Diagnostics Market- Market Dynamics

Growing adoption of advanced genetic testing technologies drives rare disease diagnostics market.

The growing adoption of advanced genetic testing technologies is a key driver for the Rare Disease Diagnostics Market. These technologies, including next-generation sequencing and whole-genome analysis, enable more precise and faster identification of rare genetic disorders that were previously difficult to diagnose. As a result, patients receive earlier and more accurate diagnoses, which significantly improves treatment outcomes and quality of life.

The advancement in genetic testing has also lowered costs and increased accessibility, encouraging wider use among healthcare providers and patients. Furthermore, innovations like non-invasive prenatal testing and liquid biopsies are expanding diagnostic possibilities. This technological progress is supported by increased research funding and regulatory approvals, fueling market growth. Overall, the integration of advanced genetic testing is transforming rare disease diagnostics, making it more effective and accessible globally.

Rare Disease Diagnostics Market- Key Insights

As per the analysis shared by our research analyst, the global market is estimated to grow annually at a CAGR of around 14.5% over the forecast period (2025-2032)

Based on Technology segmentation, Genetic Testing was predicted to show maximum market share in the year 2024

Based on application segmentation, Genetic Disorders was the leading application in 2024

Based on end-user segmentation, Hospitals and Clinics was the leading end-user in 2024

On the basis of region, North America was the leading revenue generator in 2024

Rare Disease Diagnostics Market- Segmentation Analysis:

The Global Rare Disease Diagnostics Market is segmented on the basis of Technology, Application, End-user, and Region.

The market is divided into five categories based on Technology: Genetic Testing, Molecular Diagnostics, Next-Generation Sequencing (NGS), Biochemical Assays, and Immunoassays. Among the various technologies in the Rare Disease Diagnostics Market, Genetic Testing stands out as the most dominant segment. Genetic testing allows for the direct analysis of an individual's DNA to identify mutations or variations responsible for rare genetic disorders. This technology offers precise and early diagnosis, which is critical for managing diseases that are often complex and difficult to detect through traditional methods. Advances in genetic testing, including more affordable and rapid sequencing techniques, have increased its adoption among healthcare providers worldwide.

Moreover, genetic testing supports personalized medicine by enabling tailored treatment plans based on a patient's genetic profile. Its ability to diagnose a broad range of rare diseases, from inherited metabolic disorders to rare cancers, makes it indispensable. Additionally, growing awareness and government support have fueled the integration of genetic testing into routine clinical practice. The expansion of newborn screening programs and prenatal genetic tests further boosts its dominance in this market segment. Overall, genetic testing's accuracy, speed, and expanding applications firmly establish it as the leading technology in rare disease diagnostics.

The market is divided into five categories based on application: Genetic Disorders, Neurological Disorders, Metabolic Disorders, Rare Cancers, and Others. Genetic Disorders represent the most dominant application segment in the Rare Disease Diagnostics Market. These disorders are caused by abnormalities in an individual's DNA, often inherited from parents, making early and accurate diagnosis crucial for effective management. Genetic disorders cover a wide range of conditions, including cystic fibrosis, muscular dystrophy, and Huntington's disease, which significantly impact patient health and quality of life.

Diagnostic technologies such as genetic testing and next-generation sequencing are particularly effective in identifying these disorders by detecting specific gene mutations. Increased awareness among healthcare professionals and patients about the importance of early diagnosis has driven demand in this segment. Additionally, government initiatives and rare disease advocacy groups focus heavily on genetic disorders, supporting funding and research efforts. The growing availability of targeted therapies also enhances the need for precise genetic diagnosis. As genetic disorders often manifest early in life, newborn screening programs contribute to this segment's expansion. Overall, the need for accurate identification and personalized treatment options makes genetic disorders the leading application segment in rare disease diagnostics.

Rare Disease Diagnostics Market- Geographical Insights

North America holds a strong position in the Rare Disease Diagnostics Market due to its well-established healthcare infrastructure and significant investment in medical research. The region benefits from advanced diagnostic laboratories and widespread availability of cutting-edge technologies such as next-generation sequencing. Strong government support, including funding for rare disease research and patient advocacy programs, further strengthens the market landscape.

Collaboration between healthcare providers, research institutions, and diagnostic companies accelerates innovation and adoption of new diagnostic tools. Additionally, increased awareness about rare diseases among physicians and patients drives demand for early and accurate diagnosis. The presence of numerous rare disease patient registries and clinical trials also contributes to market growth. Overall, North America remains a key hub for advancements and commercialization in rare disease diagnostics, supported by a favorable regulatory environment and robust healthcare ecosystem.

The United States is a leading country in the Rare Disease Diagnostics Market, driven by its advanced healthcare system and strong focus on innovation. The country benefits from a high concentration of research institutions and biotechnology companies dedicated to developing new diagnostic technologies. Government agencies actively support rare disease initiatives through funding and regulatory frameworks that encourage faster approval of diagnostic tests. Additionally, patient advocacy groups in the U.S. play a crucial role in raising awareness and improving access to diagnostic services. The widespread adoption of cutting-edge genetic and molecular testing methods enhances the accuracy and speed of rare disease diagnosis.

Rare Disease Diagnostics Market- Competitive Landscape:

The Rare Disease Diagnostics Market is highly competitive, with key players focusing on innovation, strategic partnerships, and expanding their product portfolios to maintain a strong market presence. Companies like Illumina, Thermo Fisher Scientific, Roche Diagnostics, QIAGEN, and Bio-Rad Laboratories lead the market by investing heavily in research and development to improve diagnostic accuracy and speed.

Other significant players, such as Abbott Laboratories, Invitae Corporation, Myriad Genetics, and Natera, Inc., contribute through advanced genetic testing and molecular diagnostics solutions. The competition also involves collaborations with healthcare providers and academic institutions to accelerate rare disease research and diagnosis. Additionally, firms are working to enhance accessibility and reduce the costs of diagnostic tests to reach a broader patient base. This dynamic landscape drives continuous technological advancements and creates opportunities for emerging companies to enter the market.

Recent Developments:

In March 2025, Illumina launched the new MiSeq i100 gene sequencer aimed at making genetic sequencing more affordable and accessible to smaller laboratories worldwide.

SCOPE OF THE REPORT

The scope of this report covers the market by its major segments, which include as following:

GLOBAL RARE DISEASE DIAGNOSTICS MARKET KEY PLAYERS- DETAILED COMPETITIVE INSIGHTS

  • Illumina, Inc.
  • Thermo Fisher Scientific
  • Roche Diagnostics
  • QIAGEN N.V.
  • Bio-Rad Laboratories
  • Abbott Laboratories
  • Becton, Dickinson and Company
  • Invitae Corporation
  • Agilent Technologies
  • PerkinElmer, Inc.
  • Myriad Genetics
  • Natera, Inc.
  • F. Hoffmann-La Roche AG
  • Guardant Health
  • Twist Bioscience Corporation
  • Laboratory Corporation of America Holdings (LabCorp)
  • Charles River Laboratories
  • Sophia Genetics
  • Centogene AG
  • Blueprint Genetics

GLOBAL RARE DISEASE DIAGNOSTICS MARKET, BY TECHNOLOGY- MARKET ANALYSIS, 2019 - 2032

  • Genetic Testing
  • Molecular Diagnostics
  • Next-Generation Sequencing (NGS)
  • Biochemical Assays
  • Immunoassays

GLOBAL RARE DISEASE DIAGNOSTICS MARKET, BY APPLICATION- MARKET ANALYSIS, 2019 - 2032

  • Genetic Disorders
  • Neurological Disorders
  • Metabolic Disorders
  • Rare Cancers
  • Others

GLOBAL RARE DISEASE DIAGNOSTICS MARKET, BY END-USER- MARKET ANALYSIS, 2019 - 2032

  • Hospitals and Clinics
  • Diagnostic Laboratories
  • Research Institutes
  • Academic and Government Research Centers

GLOBAL RARE DISEASE DIAGNOSTICS MARKET, BY REGION- MARKET ANALYSIS, 2019 - 2032

  • North America
  • U.S.
  • Canada
  • Europe
  • Germany
  • UK
  • France
  • Italy
  • Spain
  • The Netherlands
  • Sweden
  • Russia
  • Poland
  • Rest of Europe
  • Asia Pacific
  • China
  • India
  • Japan
  • South Korea
  • Australia
  • Indonesia
  • Thailand
  • Philippines
  • Rest of APAC
  • Latin America
  • Brazil
  • Mexico
  • Argentina
  • Colombia
  • Rest of LATAM
  • The Middle East and Africa
  • Saudi Arabia
  • UAE
  • Israel
  • Turkey
  • Algeria
  • Egypt
  • Rest of MEA

Table of Contents

1. Rare Disease Diagnostics Market Overview

  • 1.1. Study Scope
  • 1.2. Market Estimation Years

2. Executive Summary

  • 2.1. Market Snippet
    • 2.1.1. Rare Disease Diagnostics Market Snippet by Technology
    • 2.1.2. Rare Disease Diagnostics Market Snippet by Application
    • 2.1.3. Rare Disease Diagnostics Market Snippet by End-user
    • 2.1.4. Rare Disease Diagnostics Market Snippet by Country
    • 2.1.5. Rare Disease Diagnostics Market Snippet by Region
  • 2.2. Competitive Insights

3. Rare Disease Diagnostics Key Market Trends

  • 3.1. Rare Disease Diagnostics Market Drivers
    • 3.1.1. Impact Analysis of Market Drivers
  • 3.2. Rare Disease Diagnostics Market Restraints
    • 3.2.1. Impact Analysis of Market Restraints
  • 3.3. Rare Disease Diagnostics Market Opportunities
  • 3.4. Rare Disease Diagnostics Market Future Trends

4. Rare Disease Diagnostics Industry Study

  • 4.1. PEST Analysis
  • 4.2. Porter's Five Forces Analysis
  • 4.3. Growth Prospect Mapping
  • 4.4. Regulatory Framework Analysis

5. Rare Disease Diagnostics Market: Impact of Escalating Geopolitical Tensions

  • 5.1. Impact of COVID-19 Pandemic
  • 5.2. Impact of Russia-Ukraine War
  • 5.3. Impact of Middle East Conflicts

6. Rare Disease Diagnostics Market Landscape

  • 6.1. Rare Disease Diagnostics Market Share Analysis, 2024
  • 6.2. Breakdown Data, by Key Manufacturer
    • 6.2.1. Established Players' Analysis
    • 6.2.2. Emerging Players' Analysis

7. Rare Disease Diagnostics Market - By Technology

  • 7.1. Overview
    • 7.1.1. Segment Share Analysis, By Technology, 2024 & 2032 (%)
    • 7.1.2. Genetic Testing
    • 7.1.3. Molecular Diagnostics
    • 7.1.4. Next-Generation Sequencing (NGS)
    • 7.1.5. Biochemical Assays
    • 7.1.6. Immunoassays

8. Rare Disease Diagnostics Market - By Application

  • 8.1. Overview
    • 8.1.1. Segment Share Analysis, By Application, 2024 & 2032 (%)
    • 8.1.2. Genetic Disorders
    • 8.1.3. Neurological Disorders
    • 8.1.4. Metabolic Disorders
    • 8.1.5. Rare Cancers
    • 8.1.6. Others

9. Rare Disease Diagnostics Market - By End-user

  • 9.1. Overview
    • 9.1.1. Segment Share Analysis, By End-user, 2024 & 2032 (%)
    • 9.1.2. Hospitals and Clinics
    • 9.1.3. Diagnostic Laboratories
    • 9.1.4. Research Institutes
    • 9.1.5. Academic and Government Research Centers

10. Rare Disease Diagnostics Market- By Geography

  • 10.1. Introduction
    • 10.1.1. Segment Share Analysis, By Geography, 2024 & 2032 (%)
  • 10.2. North America
    • 10.2.1. Overview
    • 10.2.2. Rare Disease Diagnostics Key Manufacturers in North America
    • 10.2.3. North America Market Size and Forecast, By Country, 2019 - 2032 (US$ Million)
    • 10.2.4. North America Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
    • 10.2.5. North America Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
    • 10.2.6. North America Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.2.7. U.S.
      • 10.2.7.1. Overview
      • 10.2.7.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.2.7.3. U.S. Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.2.7.4. U.S. Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.2.7.5. U.S. Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.2.8. Canada
      • 10.2.8.1. Overview
      • 10.2.8.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.2.8.3. Canada Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.2.8.4. Canada Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.2.8.5. Canada Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
  • 10.3. Europe
    • 10.3.1. Overview
    • 10.3.2. Rare Disease Diagnostics Key Manufacturers in Europe
    • 10.3.3. Europe Market Size and Forecast, By Country, 2019 - 2032 (US$ Million)
    • 10.3.4. Europe Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
    • 10.3.5. Europe Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
    • 10.3.6. Europe Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.3.7. Germany
      • 10.3.7.1. Overview
      • 10.3.7.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.3.7.3. Germany Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.3.7.4. Germany Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.3.7.5. Germany Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.3.8. UK
      • 10.3.8.1. Overview
      • 10.3.8.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.3.8.3. UK Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.3.8.4. UK Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.3.8.5. UK Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.3.9. France
      • 10.3.9.1. Overview
      • 10.3.9.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.3.9.3. France Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.3.9.4. France Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.3.9.5. France Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.3.10. Italy
      • 10.3.10.1. Overview
      • 10.3.10.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.3.10.3. Italy Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.3.10.4. Italy Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.3.10.5. Italy Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.3.11. Spain
      • 10.3.11.1. Overview
      • 10.3.11.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.3.11.3. Spain Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.3.11.4. Spain Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.3.11.5. Spain Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.3.12. The Netherlands
      • 10.3.12.1. Overview
      • 10.3.12.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.3.12.3. The Netherlands Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.3.12.4. The Netherlands Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.3.12.5. The Netherlands Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.3.13. Sweden
      • 10.3.13.1. Overview
      • 10.3.13.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.3.13.3. Sweden Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.3.13.4. Sweden Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.3.13.5. Sweden Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.3.14. Russia
      • 10.3.14.1. Overview
      • 10.3.14.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.3.14.3. Russia Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.3.14.4. Russia Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.3.14.5. Russia Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.3.15. Poland
      • 10.3.15.1. Overview
      • 10.3.15.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.3.15.3. Poland Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.3.15.4. Poland Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.3.15.5. Poland Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.3.16. Rest of Europe
      • 10.3.16.1. Overview
      • 10.3.16.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.3.16.3. Rest of the Europe Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.3.16.4. Rest of the Europe Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.3.16.5. Rest of the Europe Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
  • 10.4. Asia Pacific (APAC)
    • 10.4.1. Overview
    • 10.4.2. Rare Disease Diagnostics Key Manufacturers in Asia Pacific
    • 10.4.3. APAC Market Size and Forecast, By Country, 2019 - 2032 (US$ Million)
    • 10.4.4. APAC Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
    • 10.4.5. APAC Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
    • 10.4.6. APAC Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.4.7. China
      • 10.4.7.1. Overview
      • 10.4.7.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.4.7.3. China Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.4.7.4. China Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.4.7.5. China Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.4.8. India
      • 10.4.8.1. Overview
      • 10.4.8.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.4.8.3. India Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.4.8.4. India Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.4.8.5. India Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.4.9. Japan
      • 10.4.9.1. Overview
      • 10.4.9.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.4.9.3. Japan Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.4.9.4. Japan Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.4.9.5. Japan Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.4.10. South Korea
      • 10.4.10.1. Overview
      • 10.4.10.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.4.10.3. South Korea Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.4.10.4. South Korea Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.4.10.5. South Korea Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.4.11. Australia
      • 10.4.11.1. Overview
      • 10.4.11.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.4.11.3. Australia Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.4.11.4. Australia Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.4.11.5. Australia Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.4.12. Indonesia
      • 10.4.12.1. Overview
      • 10.4.12.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.4.12.3. Indonesia Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.4.12.4. Indonesia Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.4.12.5. Indonesia Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.4.13. Thailand
      • 10.4.13.1. Overview
      • 10.4.13.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.4.13.3. Thailand Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.4.13.4. Thailand Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.4.13.5. Thailand Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.4.14. Philippines
      • 10.4.14.1. Overview
      • 10.4.14.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.4.14.3. Philippines Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.4.14.4. Philippines Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.4.14.5. Philippines Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.4.15. Rest of APAC
      • 10.4.15.1. Overview
      • 10.4.15.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.4.15.3. Rest of APAC Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.4.15.4. Rest of APAC Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.4.15.5. Rest of APAC Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
  • 10.5. Latin America (LATAM)
    • 10.5.1. Overview
    • 10.5.2. Rare Disease Diagnostics Key Manufacturers in Latin America
    • 10.5.3. LATAM Market Size and Forecast, By Country, 2019 - 2032 (US$ Million)
    • 10.5.4. LATAM Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
    • 10.5.5. LATAM Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
    • 10.5.6. LATAM Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.5.7. Brazil
      • 10.5.7.1. Overview
      • 10.5.7.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.5.7.3. Brazil Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.5.7.4. Brazil Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.5.7.5. Brazil Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.5.8. Mexico
      • 10.5.8.1. Overview
      • 10.5.8.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.5.8.3. Mexico Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.5.8.4. Mexico Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.5.8.5. Mexico Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.5.9. Argentina
      • 10.5.9.1. Overview
      • 10.5.9.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.5.9.3. Argentina Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.5.9.4. Argentina Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.5.9.5. Argentina Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.5.10. Colombia
      • 10.5.10.1. Overview
      • 10.5.10.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.5.10.3. Colombia Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.5.10.4. Colombia Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.5.10.5. Colombia Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.5.11. Rest of LATAM
      • 10.5.11.1. Overview
      • 10.5.11.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.5.11.3. Rest of LATAM Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.5.11.4. Rest of LATAM Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.5.11.5. Rest of LATAM Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
  • 10.6. Middle East and Africa (MEA)
    • 10.6.1. Overview
    • 10.6.2. Rare Disease Diagnostics Key Manufacturers in Middle East and Africa
    • 10.6.3. MEA Market Size and Forecast, By Country, 2019 - 2032 (US$ Million)
    • 10.6.4. MEA Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
    • 10.6.5. MEA Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
    • 10.6.6. MEA Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.6.7. Saudi Arabia
      • 10.6.7.1. Overview
      • 10.6.7.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.6.7.3. Saudi Arabia Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.6.7.4. Saudi Arabia Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.6.7.5. Saudi Arabia Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.6.8. UAE
      • 10.6.8.1. Overview
      • 10.6.8.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.6.8.3. UAE Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.6.8.4. UAE Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.6.8.5. UAE Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.6.9. Israel
      • 10.6.9.1. Overview
      • 10.6.9.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.6.9.3. Israel Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.6.9.4. Israel Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.6.9.5. Israel Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.6.10. Turkey
      • 10.6.10.1. Overview
      • 10.6.10.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.6.10.3. Turkey Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.6.10.4. Turkey Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.6.10.5. Turkey Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.6.11. Algeria
      • 10.6.11.1. Overview
      • 10.6.11.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.6.11.3. Algeria Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.6.11.4. Algeria Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.6.11.5. Algeria Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.6.12. Egypt
      • 10.6.12.1. Overview
      • 10.6.12.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.6.12.3. Egypt Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.6.12.4. Egypt Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.6.12.5. Egypt Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.6.13. Rest of MEA
      • 10.6.13.1. Overview
      • 10.6.13.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.6.13.3. Rest of MEA Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.6.13.4. Rest of MEA Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.6.13.5. Rest of MEA Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)

11. Key Vendor Analysis- Rare Disease Diagnostics Industry

  • 11.1. Competitive Dashboard
    • 11.1.1. Competitive Benchmarking
    • 11.1.2. Competitive Positioning
  • 11.2. Company Profiles
    • 11.2.1. Illumina, Inc.
    • 11.2.2. Thermo Fisher Scientific
    • 11.2.3. Roche Diagnostics
    • 11.2.4. QIAGEN N.V.
    • 11.2.5. Bio-Rad Laboratories
    • 11.2.6. Abbott Laboratories
    • 11.2.7. Becton, Dickinson and Company
    • 11.2.8. Invitae Corporation
    • 11.2.9. Agilent Technologies
    • 11.2.10. PerkinElmer, Inc.
    • 11.2.11. Myriad Genetics
    • 11.2.12. Natera, Inc.
    • 11.2.13. F. Hoffmann-La Roche AG
    • 11.2.14. Guardant Health
    • 11.2.15. Twist Bioscience Corporation
    • 11.2.16. Laboratory Corporation of America Holdings (LabCorp)
    • 11.2.17. Charles River Laboratories
    • 11.2.18. Sophia Genetics
    • 11.2.19. Centogene AG
    • 11.2.20. Blueprint Genetics

12. 360 Degree AnalystView

13. Appendix

  • 13.1. Research Methodology
  • 13.2. References
  • 13.3. Abbreviations
  • 13.4. Disclaimer
  • 13.5. Contact Us