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1830884

2025年全球罕见疾病基因检测市场报告

Rare Disease Genetic Testing Global Market Report 2025
出版日期: | 出版商: The Business Research Company | 英文 250 Pages | 商品交期: 2-10个工作天内

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简介目录

近年来，罕见疾病基因检测市场规模迅速扩张，从2024年的10.3亿美元成长至2025年的11.7亿美元，复合年增长率达13.6%。预测期内的增长归因于人们对罕见遗传病认识的不断提高、对早期精准诊断的需求不断增长、政府对罕见病研究的资助不断增加、基因检测服务的普及、精准医疗投资的不断增加以及罕见遗传患者病率的不断上升。

预计未来几年罕见疾病基因检测市场将快速成长，到2029年将达到19.3亿美元，复合年增长率为13.3%。预测期内的成长归因于多种因素，例如次世代定序的普及、个人化医疗的日益关注、基因研究投资的增加、新兴市场医疗基础设施的扩展、诊断检测需求的不断增长、遗传性癌症检测的使用日益增多以及对非侵入性诊断解决方案的日益偏好。预测期内的主要趋势包括基因组编辑技术的进步、用于基因数据分析的先进生物资讯学工具的开发、多基因面板检测的创新、携带式基因检测设备的进步以及样本采集技术的改进。

罕见疾病基因检测透过分析个体DNA，识别可能导致或促成罕见疾病的基因变异或突变。这有助于为罕见疾病或未确诊疾病患者提供精准诊断、早期疗育和个人化治疗方案。

罕见疾病基因检测主要涵盖免疫、心血管、神经、内分泌和代谢、血液和皮肤疾病等疾病。免疫疾病是指免疫系统异常，表现为免疫系统功能亢进、减退或自体免疫。这些疾病的诊断技术包括次世代定序、桑格定序、基于聚合酵素链锁反应(PCR) 的检测、基于晶片的检测和萤光原位杂合反应(FISH)。专科检测分为分子遗传学检测、染色体遗传学检测和生化遗传学检测，服务于各种终端用户，包括医院和诊所、实验室和受託研究机构(CRO)、诊断实验室以及其他医疗保健机构。

2025年春季美国突然提高关税以及由此引发的贸易摩擦对医疗保健产业产生了严重影响，特别是对关键医疗设备、诊断设备和药品的供应。医院和医疗机构面临进口手术器械、影像设备以及注射器和导管等消耗品成本上涨的问题。这些成本上涨给医疗保健预算带来了压力，导致一些医疗机构推迟设备升级或将成本转嫁给患者。此外，原料和零件的关税阻碍了基本药品和医疗设备的生产，造成了供应链瓶颈。作为应对措施，该行业正在筹资策略多样化，尽可能促进本地生产，并倡导对紧急医疗产品免关税。

本研究报告是商业研究公司（The Business Research Company）新报告系列的一部分，该系列提供了罕见病基因检测市场统计数据，包括全球罕见病基因检测行业市场规模、各地区市场份额、各竞争对手的市场份额、罕见病基因检测市场细分、市场趋势和商业机会，以及在罕见病基因检测行业取得成功所需的数据。这份罕见疾病基因检测市场研究报告提供了您所需的全方位展望，并详细分析了该行业的现状和未来发展趋势。

遗传性疾病的日益普及推动了罕见疾病基因检测市场的成长。遗传性疾病源自于遗传自父母一方或双方的DNA异常，或由新生突变所引起。父母年龄增长等因素会增加遗传基因突变的可能性。罕见疾病基因检测能够及早且准确地发现这些疾病，支持个人化治疗方案并改善患者预后。例如，2024年5月，英国国家医疗服务体系（NHS）报告称，镰状细胞疾病（镰状血液疾病）患者数量为17,000人，每年约有250例新确诊病例，这凸显了对基因检测的持续需求。

领先的开发商正在开发数位基因组学平台，以提高罕见疾病诊断的速度、准确性和扩充性。这些平台整合了基因组数据分析、解读和报告功能，简化了检测工作流程。 2025年3月，Strand Life Sciences Private Limited（印度）推出了StrandOmics Portal，这是一个数位基因组学平台，可为临床医生提供有关基因突变的详细见解，从而实现更快、更准确的诊断。该平台支援包括产前检测在内的高阶变异解读，并支持对基因数据的独立审查，从而加强精准医疗计画。

2022年1月，美国Exact Sciences Corporation以1.9亿美元收购了Prevention Genetics LLC，以扩大其遗传性癌症检测能力。此次收购增强了Exact Sciences的基因检测产品组合，加速了遗传性癌症诊断的可及性，并为医疗保健提供者提供了更全面的基因洞察。 Prevention Genetics专注于罕见疾病诊断，与Exact Sciences对精准医疗的专注相得益彰。

罕见疾病基因检测市场包括提供全外EXOME定序、标靶基因面板检测、全基因组定序、带因者筛检和新生儿基因筛检等服务的营业单位所获得的收益。市场价值包括服务提供者销售的或包含在其服务产品中的任何相关产品的价值。罕见疾病基因检测市场还包括基因检测套组、生物资讯软体、次世代定序(NGS) 平台、实验室试剂和耗材以及标靶基因面板的销售。该市场的价值是「工厂门口」价值，即产品製造商或创造者销售给其他营业单位（包括下游製造商、批发商、经销商和零售商）或直接销售给最终客户的产品价值。该市场中的产品价值还包括产品创造者销售的任何相关服务。

目录

第一章执行摘要

第二章 市场特征

第三章 市场趋势与策略

第四章 市场：宏观经济情景，包括利率、通膨、地缘政治、贸易战和关税，以及新冠疫情和復苏对市场的影响

第五章 全球成长分析与策略分析框架

  • 全球罕见疾病基因检测：PESTEL分析（政治、社会、技术、环境、法律、驱动因素与限制因素）
  • 最终用途产业分析
  • 全球罕见疾病基因检测市场：成长率分析
  • 全球罕见疾病基因检测市场表现：规模与成长，2019-2024
  • 全球罕见疾病基因检测市场预测：规模与成长，2024-2029年，2034年
  • 全球罕见疾病基因检测：总目标市场（TAM）

第六章 市场细分

  • 全球罕见疾病基因检测市场：依疾病类型、绩效及预测，2019-2024 年、2024-2029 年、2034 年
  • 免疫疾病
  • 心血管疾病
  • 神经系统疾病
  • 内分泌和代谢紊乱
  • 血液疾病
  • 皮肤病
  • 其他类型的疾病
  • 全球罕见疾病基因检测市场：依技术、绩效及预测，2019-2024 年、2024-2029 年、2034 年
  • 次世代定序
  • 桑格定序
  • 基于聚合酵素链锁反应的测试
  • 基于阵列的测试
  • 萤光原位杂合反应
  • 其他技术
  • 全球罕见疾病基因检测市场（依专业、绩效及预测），2019-2024 年、2024-2029 年、2034 年
  • 分子遗传学检测
  • 染色体基因检测
  • 生化基因检测
  • 全球罕见疾病基因检测市场：按最终用户、实际结果和预测，2019-2024 年、2024-2029 年、2034 年
  • 医院和诊所
  • 研究机构和合约研究机构
  • 诊断实验室
  • 其他最终用户
  • 全球罕见疾病基因检测市场：依免疫疾病类型细分，实际及预测，2019-2024 年、2024-2029 年、2034 年
  • 自体免疫疾病
  • 过敏症状
  • 原发性免疫力缺乏缺陷症
  • 发炎性疾病
  • 全球罕见疾病基因检测市场：依心血管疾病类型细分，实际及预测，2019-2024 年、2024-2029 年、2034 年
  • 先天性心臟疾病
  • 心肌病
  • 主动脉瘤
  • 肺动脉高压
  • 全球罕见疾病基因检测市场：神经系统疾病细分（类型）、绩效及预测，2019-2024 年、2024-2029 年、2034 年
  • 神经退化性疾病
  • 神经肌肉疾病
  • 癫痫症候群
  • 运动障碍
  • 全球罕见疾病基因检测市场：神经系统疾病细分（类型）、绩效及预测，2019-2024 年、2024-2029 年、2034 年
  • 神经退化性疾病
  • 神经肌肉疾病
  • 癫痫症候群
  • 运动障碍
  • 全球罕见疾病基因检测市场：内分泌及代谢疾病类型细分、绩效及预测（2019-2024 年、2024-2029 年及 2034 年）
  • 遗传性代谢紊乱
  • 甲状腺疾病
  • 肾上腺疾病
  • 糖尿病相关遗传疾病
  • 全球罕见疾病基因检测市场：依皮肤病类型细分，实际及预测，2019-2024 年、2024-2029 年、2034 年
  • 遗传性皮肤病
  • 结缔组织疾病
  • 色素沉着障碍
  • 角化障碍
  • 全球罕见疾病基因检测市场：依疾病类型（其他）细分，实际及预测，2019-2024 年、2024-2029 年、2034 年
  • 骨骼发育不良
  • 肾臟遗传性疾病
  • 遗传性眼科疾病
  • 消化器官系统遗传性疾病

第七章 区域和国家分析

  • 全球罕见疾病基因检测市场：依地区、绩效及预测，2019-2024 年、2024-2029 年、2034 年
  • 全球罕见疾病基因检测市场：依国家/地区、绩效及预测（2019-2024 年、2024-2029 年及 2034 年）

第八章 亚太市场

第九章：中国市场

第十章 印度市场

第十一章 日本市场

第十二章：澳洲市场

第十三章 印尼市场

第十四章 韩国市场

第十五章 西欧市场

第十六章英国市场

第十七章：德国市场

第18章：法国市场

第十九章：义大利市场

第20章：西班牙市场

第21章 东欧市场

第22章俄罗斯市场

第23章 北美市场

第24章美国市场

第25章：加拿大市场

第26章 南美洲市场

第27章：巴西市场

第28章 中东市场

第29章：非洲市场

第30章：竞争格局与公司概况

  • 罕见疾病基因检测市场：竞争格局
  • 罕见疾病基因检测市场：公司简介
    • Thermo Fisher Scientific Inc. Overview, Products and Services, Strategy and Financial Analysis
    • Quest Diagnostics Inc. Overview, Products and Services, Strategy and Financial Analysis
    • Eurofins Scientific SE Overview, Products and Services, Strategy and Financial Analysis
    • Agilent Technologies Inc. Overview, Products and Services, Strategy and Financial Analysis
    • Illumina Inc. Overview, Products and Services, Strategy and Financial Analysis

第31章：其他领先和创新企业

  • QIAGEN NV
  • Natera Inc.
  • OPKO Health Inc.
  • Myriad Genetics Inc.
  • Fulgent Genetics Inc.
  • BioReference Laboratories Inc.
  • Invitae Corporation
  • Ambry Genetics Corporation
  • Centogene NV
  • Baylor Genetics Company
  • PreventionGenetics
  • Blueprint Genetics Oy
  • Realm IDX Inc.
  • Artemis DNA Inc.
  • BGI Genomics Co. Ltd.

第 32 章全球市场竞争基准化分析与仪表板

第33章 重大併购

第34章近期市场趋势

第 35 章：高潜力市场国家、细分市场与策略

  • 2029年罕见疾病基因检测市场：哪些国家将提供新机会
  • 2029年罕见疾病基因检测市场：细分领域带来新机会
  • 罕见疾病基因检测市场2029年：成长策略
    • 基于市场趋势的策略
    • 竞争对手策略

第36章 附录

简介目录
Product Code: r37875

Rare disease genetic testing involves analyzing an individual's DNA to identify genetic mutations or variations that may cause or contribute to a rare disease. This testing enables accurate diagnosis, early intervention, and personalized treatment planning for patients with rare or undiagnosed conditions.

The primary disease types addressed by rare disease genetic testing include immunological disorders, cardiovascular disorders, neurological diseases, endocrine and metabolic disorders, hematological diseases, dermatological diseases, and others. Immunological disorders involve abnormal immune system function, which may manifest as overactivity, underactivity, or autoimmunity. These conditions are diagnosed using technologies such as next-generation sequencing, Sanger sequencing, polymerase chain reaction (PCR)-based testing, array-based testing, fluorescence in situ hybridization (FISH), and others. In terms of specialty testing, rare disease genetic testing is classified into molecular genetic tests, chromosomal genetic tests, and biochemical genetic tests, serving a diverse range of end users, including hospitals and clinics, research laboratories and contract research organizations (CROs), diagnostic laboratories, and other healthcare providers.

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.

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.

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

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

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

The rising prevalence of genetic disorders is driving growth in the rare disease genetic testing market. Genetic disorders arise from DNA abnormalities, either inherited from one or both parents or caused by new mutations. Factors such as increasing parental age contribute to a higher likelihood of passing on genetic mutations. Rare disease genetic testing enables early and accurate detection of these conditions, supporting personalized treatment planning and improving patient outcomes. For example, in May 2024, the UK National Health Service reported that 17,000 people were living with sickle cell disease, an inherited genetic blood disorder, with approximately 250 new cases diagnosed each year, highlighting the ongoing need for genetic testing.

Key players are developing digital genomics platforms to enhance the speed, accuracy, and scalability of rare disease diagnosis. These platforms integrate genomic data analysis, interpretation, and reporting to streamline testing workflows. In March 2025, Strand Life Sciences Private Limited (India) launched the StrandOmics Portal, a digital genomics platform that provides clinicians with detailed insights into genetic variants, enabling faster and more precise diagnoses. The platform supports advanced variant interpretation, including prenatal diagnostics, and allows independent review of genetic data, reinforcing precision medicine efforts.

In January 2022, Exact Sciences Corporation (US) acquired Prevention Genetics LLC for \$190 million to expand its hereditary cancer testing capabilities. This acquisition strengthens Exact Sciences' genetic testing portfolio, accelerating access to hereditary cancer diagnostics and providing healthcare providers with more comprehensive genetic insights. Prevention Genetics specializes in rare disease diagnostics, complementing Exact Sciences' focus on precision medicine.

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

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

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

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

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.

Rare Disease Genetic Testing Global Market Report 2025 from The Business Research Company provides strategists, marketers and senior management with the critical information they need to assess the market.

This report focuses on rare disease genetic testing market which is experiencing strong growth. The report gives a guide to the trends which will be shaping the market over the next ten years and beyond.

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Where is the largest and fastest growing market for rare disease genetic testing ? How does the market relate to the overall economy, demography and other similar markets? What forces will shape the market going forward, including technological disruption, regulatory shifts, and changing consumer preferences? The rare disease genetic testing market global report from the Business Research Company answers all these questions and many more.

The report covers market characteristics, size and growth, segmentation, regional and country breakdowns, competitive landscape, market shares, trends and strategies for this market. It traces the market's historic and forecast market growth by geography.

  • The market characteristics section of the report defines and explains the market.
  • The market size section gives the market size ($b) covering both the historic growth of the market, and forecasting its development.
  • The forecasts are made after considering the major factors currently impacting the market. These include:

The forecasts are made after considering the major factors currently impacting the market. These include the technological advancements such as AI and automation, Russia-Ukraine war, trade tariffs (government-imposed import/export duties), elevated inflation and interest rates.

  • Market segmentations break down the market into sub markets.
  • The regional and country breakdowns section gives an analysis of the market in each geography and the size of the market by geography and compares their historic and forecast growth.
  • The competitive landscape chapter gives a description of the competitive nature of the market, market shares, and a description of the leading companies. Key financial deals which have shaped the market in recent years are identified.
  • The trends and strategies section analyses the shape of the market as it emerges from the crisis and suggests how companies can grow as the market recovers.

Scope

  • Markets Covered:1) By Disease Type: Immunological Disorders; Cardiovascular Disorders; Neurological Disease; Endocrine And Metabolism Disorders Diseases; Hematological Diseases; Dermatological Disease; Other Disease Types
  • 2) By Technology: Next-Generation Sequencing; Sanger Sequencing; Polymerase Chain Reaction Based Testing; Array Based Testing; Fluorescence In Situ Hybridization; Other Technologies
  • 3) By Specialty: Molecular Genetic Tests; Chromosomal Genetic Tests; Biochemical Genetic Tests
  • 4) By End-User: Hospitals And Clinics; Research Laboratories And Contract Research Organizations; Diagnostic Laboratories; Other End Users
  • Subsegments:
  • 1) By Immunological Disorders: Autoimmune Disorders; Allergic Conditions; Primary Immunodeficiency Disorders; Inflammatory Disorders
  • 2) By Cardiovascular Disorders: Congenital Heart Defects; Cardiomyopathies; Aortic Aneurysms; Pulmonary Hypertension
  • 3) By Neurological Disease: Neurodegenerative Disorders; Neuromuscular Disorders; Epileptic Syndromes; Movement Disorders
  • 4) By Endocrine And Metabolism Disorders Diseases: Inherited Metabolic Disorders; Thyroid Disorders; Adrenal Disorders; Diabetes Related Genetic Conditions
  • 5) By Hematological Diseases: Hemophilia; Thalassemia; Sickle Cell Disease; Clotting Disorders
  • 6) By Dermatological Disease: Genetic Skin Disorders; Connective Tissue Disorders; Pigmentary Disorders; Keratinization Disorders
  • 7) By Other Disease Types: Skeletal Dysplasia; Renal Genetic Disorders; Ophthalmic Genetic Conditions; Gastrointestinal Genetic Conditions
  • Companies Mentioned: Thermo Fisher Scientific Inc.; Quest Diagnostics Inc.; Eurofins Scientific SE; Agilent Technologies Inc.; Illumina Inc.; QIAGEN N.V.; Natera Inc.; OPKO Health Inc.; Myriad Genetics Inc.; Fulgent Genetics Inc.; BioReference Laboratories Inc.; Invitae Corporation; Ambry Genetics Corporation; Centogene N.V.; Baylor Genetics Company; PreventionGenetics; Blueprint Genetics Oy; Realm IDX Inc.; Artemis DNA Inc.; BGI Genomics Co. Ltd.
  • Countries: Australia; Brazil; China; France; Germany; India; Indonesia; Japan; Russia; South Korea; UK; USA; Canada; Italy; Spain
  • Regions: Asia-Pacific; Western Europe; Eastern Europe; North America; South America; Middle East; Africa
  • Time Series: Five years historic and ten years forecast.
  • Data: Ratios of market size and growth to related markets, GDP proportions, expenditure per capita,
  • Data Segmentations: country and regional historic and forecast data, market share of competitors, market segments.
  • Sourcing and Referencing: Data and analysis throughout the report is sourced using end notes.
  • Delivery Format: PDF, Word and Excel Data Dashboard.

Table of Contents

1. Executive Summary

2. Rare Disease Genetic Testing Market Characteristics

3. Rare Disease Genetic Testing Market Trends And Strategies

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

  • 4.1. Supply Chain Impact from Tariff War & Trade Protectionism

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

  • 5.1. Global Rare Disease Genetic Testing PESTEL Analysis (Political, Social, Technological, Environmental and Legal Factors, Drivers and Restraints)
  • 5.2. Analysis Of End Use Industries
  • 5.3. Global Rare Disease Genetic Testing Market Growth Rate Analysis
  • 5.4. Global Rare Disease Genetic Testing Historic Market Size and Growth, 2019 - 2024, Value ($ Billion)
  • 5.5. Global Rare Disease Genetic Testing Forecast Market Size and Growth, 2024 - 2029, 2034F, Value ($ Billion)
  • 5.6. Global Rare Disease Genetic Testing Total Addressable Market (TAM)

6. Rare Disease Genetic Testing Market Segmentation

  • 6.1. Global Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Immunological Disorders
  • Cardiovascular Disorders
  • Neurological Disease
  • Endocrine And Metabolism Disorders Diseases
  • Hematological Diseases
  • Dermatological Disease
  • Other Disease Types
  • 6.2. Global Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Next-Generation Sequencing
  • Sanger Sequencing
  • Polymerase Chain Reaction Based Testing
  • Array Based Testing
  • Fluorescence In Situ Hybridization
  • Other Technologies
  • 6.3. Global Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Molecular Genetic Tests
  • Chromosomal Genetic Tests
  • Biochemical Genetic Tests
  • 6.4. Global Rare Disease Genetic Testing Market, Segmentation By End-User, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Hospitals And Clinics
  • Research Laboratories And Contract Research Organizations
  • Diagnostic Laboratories
  • Other End Users
  • 6.5. Global Rare Disease Genetic Testing Market, Sub-Segmentation Of Immunological Disorders, By Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Autoimmune Disorders
  • Allergic Conditions
  • Primary Immunodeficiency Disorders
  • Inflammatory Disorders
  • 6.6. Global Rare Disease Genetic Testing Market, Sub-Segmentation Of Cardiovascular Disorders, By Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Congenital Heart Defects
  • Cardiomyopathies
  • Aortic Aneurysms
  • Pulmonary Hypertension
  • 6.7. Global Rare Disease Genetic Testing Market, Sub-Segmentation Of Neurological Disease, By Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Neurodegenerative Disorders
  • Neuromuscular Disorders
  • Epileptic Syndromes
  • Movement Disorders
  • 6.8. Global Rare Disease Genetic Testing Market, Sub-Segmentation Of Neurological Disease, By Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Neurodegenerative Disorders
  • Neuromuscular Disorders
  • Epileptic Syndromes
  • Movement Disorders
  • 6.9. Global Rare Disease Genetic Testing Market, Sub-Segmentation Of Endocrine And Metabolism Disorders Diseases, By Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Inherited Metabolic Disorders
  • Thyroid Disorders
  • Adrenal Disorders
  • Diabetes Related Genetic Conditions
  • 6.10. Global Rare Disease Genetic Testing Market, Sub-Segmentation Of Dermatological Disease, By Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Genetic Skin Disorders
  • Connective Tissue Disorders
  • Pigmentary Disorders
  • Keratinization Disorders
  • 6.11. Global Rare Disease Genetic Testing Market, Sub-Segmentation Of Other Disease Types, By Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Skeletal Dysplasias
  • Renal Genetic Disorders
  • Ophthalmic Genetic Conditions
  • Gastrointestinal Genetic Conditions

7. Rare Disease Genetic Testing Market Regional And Country Analysis

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

8. Asia-Pacific Rare Disease Genetic Testing Market

  • 8.1. Asia-Pacific Rare Disease Genetic Testing Market Overview
  • Region Information, Market Information, Background Information, Government Initiatives, Regulations, Regulatory Bodies, Major Associations, Taxes Levied, Corporate Tax Structure, Investments, Major Companies
  • 8.2. Asia-Pacific Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 8.3. Asia-Pacific Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 8.4. Asia-Pacific Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

9. China Rare Disease Genetic Testing Market

  • 9.1. China Rare Disease Genetic Testing Market Overview
  • 9.2. China Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F,$ Billion
  • 9.3. China Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F,$ Billion
  • 9.4. China Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F,$ Billion

10. India Rare Disease Genetic Testing Market

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

11. Japan Rare Disease Genetic Testing Market

  • 11.1. Japan Rare Disease Genetic Testing Market Overview
  • 11.2. Japan Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 11.3. Japan Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 11.4. Japan Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

12. Australia Rare Disease Genetic Testing Market

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

13. Indonesia Rare Disease Genetic Testing Market

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

14. South Korea Rare Disease Genetic Testing Market

  • 14.1. South Korea Rare Disease Genetic Testing Market Overview
  • 14.2. South Korea Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 14.3. South Korea Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 14.4. South Korea Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

15. Western Europe Rare Disease Genetic Testing Market

  • 15.1. Western Europe Rare Disease Genetic Testing Market Overview
  • 15.2. Western Europe Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 15.3. Western Europe Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 15.4. Western Europe Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

16. UK Rare Disease Genetic Testing Market

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

17. Germany Rare Disease Genetic Testing Market

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

18. France Rare Disease Genetic Testing Market

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

19. Italy Rare Disease Genetic Testing Market

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

20. Spain Rare Disease Genetic Testing Market

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

21. Eastern Europe Rare Disease Genetic Testing Market

  • 21.1. Eastern Europe Rare Disease Genetic Testing Market Overview
  • 21.2. Eastern Europe Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 21.3. Eastern Europe Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 21.4. Eastern Europe Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

22. Russia Rare Disease Genetic Testing Market

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

23. North America Rare Disease Genetic Testing Market

  • 23.1. North America Rare Disease Genetic Testing Market Overview
  • 23.2. North America Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 23.3. North America Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 23.4. North America Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

24. USA Rare Disease Genetic Testing Market

  • 24.1. USA Rare Disease Genetic Testing Market Overview
  • 24.2. USA Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 24.3. USA Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 24.4. USA Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

25. Canada Rare Disease Genetic Testing Market

  • 25.1. Canada Rare Disease Genetic Testing Market Overview
  • 25.2. Canada Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 25.3. Canada Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 25.4. Canada Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

26. South America Rare Disease Genetic Testing Market

  • 26.1. South America Rare Disease Genetic Testing Market Overview
  • 26.2. South America Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 26.3. South America Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 26.4. South America Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

27. Brazil Rare Disease Genetic Testing Market

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

28. Middle East Rare Disease Genetic Testing Market

  • 28.1. Middle East Rare Disease Genetic Testing Market Overview
  • 28.2. Middle East Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 28.3. Middle East Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 28.4. Middle East Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

29. Africa Rare Disease Genetic Testing Market

  • 29.1. Africa Rare Disease Genetic Testing Market Overview
  • 29.2. Africa Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 29.3. Africa Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 29.4. Africa Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

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

  • 30.1. Rare Disease Genetic Testing Market Competitive Landscape
  • 30.2. Rare Disease Genetic Testing Market Company Profiles
    • 30.2.1. Thermo Fisher Scientific Inc. Overview, Products and Services, Strategy and Financial Analysis
    • 30.2.2. Quest Diagnostics Inc. Overview, Products and Services, Strategy and Financial Analysis
    • 30.2.3. Eurofins Scientific SE Overview, Products and Services, Strategy and Financial Analysis
    • 30.2.4. Agilent Technologies Inc. Overview, Products and Services, Strategy and Financial Analysis
    • 30.2.5. Illumina Inc. Overview, Products and Services, Strategy and Financial Analysis

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

  • 31.1. QIAGEN N.V.
  • 31.2. Natera Inc.
  • 31.3. OPKO Health Inc.
  • 31.4. Myriad Genetics Inc.
  • 31.5. Fulgent Genetics Inc.
  • 31.6. BioReference Laboratories Inc.
  • 31.7. Invitae Corporation
  • 31.8. Ambry Genetics Corporation
  • 31.9. Centogene N.V.
  • 31.10. Baylor Genetics Company
  • 31.11. PreventionGenetics
  • 31.12. Blueprint Genetics Oy
  • 31.13. Realm IDX Inc.
  • 31.14. Artemis DNA Inc.
  • 31.15. BGI Genomics Co. Ltd.

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

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

34. Recent Developments In The Rare Disease Genetic Testing Market

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

  • 35.1 Rare Disease Genetic Testing Market In 2029 - Countries Offering Most New Opportunities
  • 35.2 Rare Disease Genetic Testing Market In 2029 - Segments Offering Most New Opportunities
  • 35.3 Rare Disease Genetic Testing Market In 2029 - Growth Strategies
    • 35.3.1 Market Trend Based Strategies
    • 35.3.2 Competitor Strategies

36. Appendix

  • 36.1. Abbreviations
  • 36.2. Currencies
  • 36.3. Historic And Forecast Inflation Rates
  • 36.4. Research Inquiries
  • 36.5. The Business Research Company
  • 36.6. Copyright And Disclaimer