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罕见疾病基因检测市场 - 2018-2028 年全球产业规模、份额、趋势、机会和预测，按疾病类型、按专业、按技术、按最终用户、按地区、竞争细分

Rare Disease Genetic Testing Market - Global Industry Size, Share, Trends, Opportunity, and Forecast, 2018-2028 Segmented By Disease Type, By Speciality By Technology, By End User, By Region, Competition
出版日期: | 出版商: TechSci Research | 英文 181 Pages | 商品交期: 2-3个工作天内

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简介目录

2022年，全球罕见疾病基因检测市值为7.8983亿美元，预计在预测期内将出现强劲增长，预计复合年增长率（CAGR）为8.04%，到2028年预计将达到12.4963亿美元。罕见疾病基因检测涉及对导致罕见疾病的基因突变或改变进行诊断。这些疾病的盛行率较低，仅影响一小部分人口。它们通常是由基因突变或特定基因的改变引起的。罕见疾病的基因检测分析个体的 DNA，以识别可能导致其症状或病症的异常或突变。这有助于准确诊断、了解疾病的根本原因并指导个人化治疗策略。罕见疾病基因检测采用多种技术，包括次世代定序（NGS），它可以同时分析多个基因或整个基因组。该技术提高了基因检测的效率和准确性，能够检测罕见的基因突变。

主要市场驱动因素

罕见病患疾病率的上升推动市场成长：罕见病患疾病率的上升是全球罕见疾病基因检测市场的重要驱动力。罕见疾病在人群中的盛行率估计为 3.5-5.9%，全球约有 260-4.4 亿人。随着对遗传学和罕见疾病的了解不断加深，基因检测对于准确和早期诊断变得至关重要。它能够识别与罕见疾病相关的特定基因突变，确认诊断并制定有针对性的治疗计划。医疗保健提供者和患者对罕见疾病的认识不断提高，导致对准确、及时诊断的需求更高。患者及其家人更有可能寻求疑似罕见疾病的基因检测，从而促进了市场成长。精准医学的概念根据个人的基因组成客製化医疗服务，进一步推动了对基因检测的需求。

市场概况
预测期 2024-2028
2022 年市场规模 78983万美元
2028 年市场规模 124963万美元
2023-2028 年复合年增长率 8.04%
成长最快的细分市场 研究实验室和 CRO
最大的市场 北美洲

对个人化医疗的需求不断增长推动市场成长：对个人化医疗的需求不断增长对全球罕见疾病基因检测市场产生了重大影响。个人化医疗涉及根据个别患者特征（包括基因组成）客製化医疗治疗。它根据遗传资讯预测哪种治疗最有效。基因检测对于识别罕见疾病的基因突变、确认诊断并了解原因至关重要。个人化医疗旨在针对疾病的根本原因，因此基因检测对于客製化治疗至关重要。基因检测可以实现精确、早期的罕见疾病诊断，对于症状模糊或重迭的疾病尤其重要。准确的诊断可确保适当且有效的治疗方案。基因检测还可以识别潜在的药物标靶，预测治疗反应并指导治疗选择，这对于标准治疗有限的罕见疾病尤其重要。

提高意识和宣传推动市场成长：对罕见疾病的认识和宣传不断提高有助于全球罕见疾病基因检测市场的成长。大约 7,000 种罕见疾病影响着 2500-3000 万美国人，从而提高了人们的认识。宣传工作提高了基因检测在管理罕见疾病方面的形象，推动了对检测服务的需求。意识和宣传的提高导致患者、医疗保健提供者和政策制定者更多地考虑基因检测。随着人们对罕见疾病和基因检测重要性的认识不断提高，患者寻求基因检测来进行准确诊断和个人化治疗。倡导活动强调早期诊断对于改善患者治疗结果的重要性，从而导致对检测服务的更高需求。倡导团体、医疗保健提供者和研究人员之间的合作改善了基因检测的获取和资金，促进了市场的成长。

主要市场挑战

诊断的复杂性带来了测试挑战：罕见疾病的复杂性可能导致延迟或误诊。医疗保健提供者可能很难确定症状的根本原因，从而导致不正确的治疗或介入。罕见疾病具有异质性症状，并且往往缺乏标准化的诊断标准，这使得基因检测具有挑战性。罕见疾病的遗传基础可能涉及多个基因和变异，使精确的突变识别变得复杂。准确识别罕见疾病基因突变需要先进的检测技术和生物资讯分析。

有限的知识和意识阻碍了检测的采用：医疗保健提供者的意识有限阻碍了对罕见疾病进行基因检测。对罕见疾病临床表现和基因图谱缺乏熟悉导致基因检测的利用不足。由于知识有限而误诊导致不适当的治疗。意识有限会影响基因检测的选择，因为提供者可能无法识别与特定罕见疾病相关的遗传标记。认识有限也减缓了罕见疾病的研究进展和测试开发。

道德和隐私问题影响检测的采用：道德和隐私问题影响罕见疾病基因检测的采用。获得基因检测的知情同意很复杂，尤其是对于罕见疾病。围绕基因资料的隐私和安全问题阻碍了测试参与。基因检测可能会揭示意想不到的发现，造成道德两难。遗传资料也可能影响未同意进行检测的家庭成员。道德考虑受到文化和宗教信仰的影响，需要仔细的测试管理。

主要市场趋势

直接面向消费者（DTC）检测的成长：儘管与血统或健康特征等其他基因检测领域相比，DTC 检测在全球罕见疾病基因检测市场中的成长相对有限，但它发挥了一定作用。 DTC 测试为消费者提供遗传讯息，有可能识别与罕见疾病相关的标记。即使不专门针对罕见疾病，DTC 检测也能提高一般遗传学和健康意识。 DTC 测试可以识别与疾病相关的罕见遗传变异。一些公司提供将遗传资料贡献给研究资料库的选项，以帮助罕见疾病的研究和发现。道德问题和监管监督会影响 DTC 测试的准确性和影响。

细分市场洞察

疾病类型洞察：内分泌和代谢领域在 2022 年罕见疾病基因检测市场中占据主导地位，预计将继续成长。此类中的许多罕见疾病都有明确的遗传基础，其突变会影响荷尔蒙的产生和代谢。基因检测有助于早期诊断和介入。遗传讯息指导个人化治疗计划，针对特定的基因突变并改善结果。

技术洞察：次世代定序 (NGS) 在 2022 年罕见疾病基因检测市场占据主导地位，并且可能会继续成长。 NGS 彻底改变了基因检测，提供速度、经济性、准确性以及大型基因数据集的分析。它有助于识别罕见的基因突变，提高诊断和治疗的准确性。

专业见解：分子遗传学检测在 2022 年罕见疾病基因检测市场中占据主导地位，预计将继续成长。分子检验分析 DNA、RNA 或蛋白质，诊断罕见疾病、监测进展并识别风险。

最终用途产业洞察：研究和合约研究组织 (CRO) 在 2022 年罕见疾病基因检测市场中占据主导地位，并且可能会继续成长。他们开发基因测试、进行试验并提供测试服务。研究和 CRO 研究罕见疾病的遗传基础、开发治疗方法并改善诊断和管理。

区域洞察

北美引领全球罕见疾病基因检测市场，主要是美国和加拿大。这些国家拥有先进的医疗基础设施，支持基因检测技术的开发、采用和整合。该地区罕见疾病的高盛行率是由于人口老化和意识增强等因素造成的。该地区突出的医疗保健环境支持基因检测的成长和采用。

目录

第 1 章：产品概述

  • 市场定义
  • 市场范围
    • 涵盖的市场
    • 考虑学习的年份
    • 主要市场区隔

第 2 章：研究方法

  • 研究目的
  • 基线方法
  • 主要产业伙伴
  • 主要协会和二手资料来源
  • 预测方法
  • 数据三角测量与验证
  • 假设和限制

第 3 章：执行摘要

  • 市场概况
  • 主要市场细分概述
  • 主要市场参与者概述
  • 重点地区/国家概况
  • 市场驱动因素、挑战、趋势概述

第 4 章：客户之声

第 5 章：定价分析

第 6 章：全球罕见疾病基因检测市场展望

  • 市场规模及预测
    • 按价值和数量
  • 市占率及预测
    • 依疾病类型（神经系统疾病、心血管疾病）
    • 按专业（分子、生物化学）
    • 按技术（NGS、基于 PCR）
    • 按最终用户（研究实验室和 CRO、医院和诊所、诊断实验室）
    • 按公司划分 (2022)
    • 按地区
  • 产品市场地图

第 7 章：北美罕见疾病基因检测市场展望

  • 市场规模及预测
    • 按价值和数量
  • 市占率及预测
    • 依疾病类型
    • 专业
    • 科技
    • 按最终用途行业
    • 按国家/地区
  • 北美：国家分析
    • 美国
    • 墨西哥
    • 加拿大

第 8 章：欧洲罕见疾病基因检测市场展望

  • 市场规模及预测
    • 按价值和数量
  • 市占率及预测
    • 依疾病类型
    • 按专业
    • 依技术
    • 按最终用途行业
    • 按国家/地区
  • 欧洲：国家分析
    • 法国
    • 德国
    • 英国
    • 义大利
    • 西班牙

第9章：亚太地区罕见疾病基因检测市场展望

  • 市场规模及预测
    • 按价值和数量
  • 市占率及预测
    • 依疾病类型
    • 按专业
    • 依技术
    • 按最终用途行业
    • 按国家/地区
  • 亚太地区：国家分析
    • 中国
    • 印度
    • 韩国
    • 日本
    • 澳洲

第10章：南美罕见疾病基因检测市场展望

  • 市场规模及预测
    • 按价值和数量
  • 市占率及预测
    • 依疾病类型
    • 按专业
    • 依技术
    • 按最终用途行业
    • 按国家/地区
  • 南美洲：国家分析
    • 巴西
    • 阿根廷
    • 哥伦比亚

第11章：中东和非洲罕见疾病基因检测市场展望

  • 市场规模及预测
    • 按价值和数量
  • 市占率及预测
    • 依疾病类型
    • 按专业
    • 依技术
    • 按最终用途行业
    • 按国家/地区
  • MEA：国家分析
    • 南非罕见疾病基因检测
    • 沙乌地阿拉伯罕见疾病基因检测
    • 阿联酋罕见疾病基因检测

第 12 章：市场动态

  • 司机
  • 挑战

第 13 章：市场趋势与发展

  • 最近的发展
  • 产品发布
  • 併购

第 14 章：大环境分析

第 15 章：波特的五力分析

  • 产业竞争
  • 新进入者的潜力
  • 供应商的力量
  • 客户的力量
  • 替代产品的威胁

第16章：竞争格局

  • 商业概览
  • 公司概况
  • 产品与服务
  • 财务（上市公司）
  • 最近的发展
  • SWOT分析
    • Centogene NV
    • Invitae Corp.
    • 3billion, Inc.
    • Arup Laboratories
    • Eurofins Scientific
    • Strand Life Sciences
    • Ambry Genetics
    • Perkin Elmer, Inc.
    • Realm IDX, Inc.
    • Macrogen, Inc.

第 17 章：策略建议

简介目录
Product Code: 15833

The Global Rare Disease Genetic Testing Market was valued at USD 789.83 Million in 2022 and is expected to experience robust growth during the forecast period, with a projected Compound Annual Growth Rate (CAGR) of 8.04% and expected to reach USD 1249.63 Million through 2028. Rare Disease Genetic Testing involves the diagnosis of genetic mutations or alterations responsible for rare diseases. These diseases have a low prevalence, affecting only a small percentage of the population. They are often caused by genetic mutations or alterations in specific genes. Genetic testing for rare diseases analyzes an individual's DNA to identify abnormalities or mutations that may be causing their symptoms or condition. This aids in accurate diagnosis, understanding the underlying cause of the disease, and guiding personalized treatment strategies. Various techniques are used for rare disease genetic testing, including next-generation sequencing (NGS), which allows the analysis of multiple genes or the entire genome simultaneously. This technology enhances the efficiency and accuracy of genetic testing, enabling the detection of rare genetic mutations.

Key Market Drivers

Increasing Prevalence of Rare Diseases Drives Market Growth: The rising prevalence of rare diseases is a significant driver for the global rare disease genetic testing market. The prevalence rate of rare diseases in the population was estimated at 3.5-5.9%, translating to approximately 260-440 million people globally. As understanding of genetics and rare diseases improves, genetic testing becomes crucial for accurate and early diagnosis. It enables the identification of specific genetic mutations associated with rare diseases, confirming diagnoses, and enabling targeted treatment plans. Increased awareness of rare diseases among healthcare providers and patients has led to higher demand for accurate and timely diagnosis. Patients and their families are more likely to seek genetic testing for suspected rare diseases, contributing to market growth. The concept of precision medicine, which tailors medical care to an individual's genetic makeup, further drives the demand for genetic testing.

Market Overview
Forecast Period2024-2028
Market Size 2022USD 789.83 Million
Market Size 2028USD 1249.63 Million
CAGR 2023-20288.04%
Fastest Growing SegmentResearch Laboratories & CROs
Largest MarketNorth America

Increasing Demand for Personalized Medication Drives Market Growth: The growing demand for personalized medicine significantly influences the global rare disease genetic testing market. Personalized medicine involves tailoring medical treatment to individual patient characteristics, including genetic makeup. It anticipates which treatments will be most effective based on genetic information. Genetic testing is crucial for identifying genetic mutations underlying rare diseases, confirming diagnoses, and understanding their causes. Personalized medicine aims to target disease root causes, making genetic testing essential for treatment tailoring. Genetic testing enables precise and early rare disease diagnosis, especially important for conditions with vague or overlapping symptoms. Accurate diagnosis ensures appropriate and effective treatment options. Genetic testing also identifies potential drug targets, predicts treatment responses, and guides therapy selection, particularly important for rare diseases with limited standard treatments.

Increasing Awareness and Advocacy Drive Market Growth: Rising awareness and advocacy for rare diseases contribute to the growth of the global rare disease genetic testing market. Approximately 7,000 rare diseases affect 25-30 million Americans, leading to increased awareness. Advocacy efforts raise the profile of genetic testing in managing rare diseases, driving demand for testing services. Increased awareness and advocacy lead to greater genetic testing consideration among patients, healthcare providers, and policymakers. As awareness spreads about rare diseases and the importance of genetic testing, patients seek genetic testing for accurate diagnosis and personalized treatment. Advocacy initiatives emphasize early diagnosis significance for improved patient outcomes, leading to higher demand for testing services. Collaborations between advocacy groups, healthcare providers, and researchers improve genetic testing access and funding, contributing to market growth.

Key Market Challenges

Diagnostic Complexity Poses Testing Challenges: Rare diseases' complexity can lead to delayed or misdiagnosis. Healthcare providers may struggle to identify underlying causes of symptoms, leading to incorrect treatments or interventions. Rare diseases have heterogeneous symptoms and often lack standardized diagnostic criteria, making genetic testing challenging. Rare diseases' genetic basis can involve multiple genes and variants, complicating precise mutation identification. Advanced testing technologies and bioinformatics analysis are required to identify rare disease genetic mutations accurately.

Limited Knowledge and Awareness Hinders Testing Adoption: Limited awareness among healthcare providers hinders genetic testing consideration for rare diseases. Lack of familiarity with rare disease clinical presentations and genetic profiles leads to underutilization of genetic testing. Misdiagnosis due to limited knowledge results in inappropriate treatments. Limited awareness affects genetic testing selection, as providers may not recognize genetic markers associated with specific rare diseases. Limited awareness also slows rare disease research progress and test development.

Ethical and Privacy Concerns Impact Testing Uptake: Ethical and privacy concerns affect rare disease genetic testing adoption. Obtaining informed consent for genetic testing is complex, especially for rare diseases. Privacy and security concerns around genetic data discourage testing participation. Genetic testing may reveal unexpected findings, creating ethical dilemmas. Genetic data may also affect family members who have not consented to testing. Ethical considerations are influenced by cultural and religious beliefs, requiring careful testing management.

Key Market Trends

Growth of Direct-to-Consumer (DTC) Testing: While DTC testing's growth in the global rare disease genetic testing market is relatively limited compared to other genetic testing areas, such as ancestry or health traits, it plays a role. DTC tests empower consumers with genetic information, potentially identifying markers associated with rare diseases. Even if not exclusively for rare diseases, DTC testing increases general genetics and health awareness. DTC tests can identify rare genetic variants associated with conditions. Some companies offer options to contribute genetic data to research databases, aiding rare disease research and discoveries. Ethical concerns and regulatory oversight impact DTC testing's accuracy and implications.

Segmental Insights

Disease Type Insights: The Endocrine & Metabolism segment dominated the 2022 Rare Disease Genetic Testing market and is projected to continue growing. Many rare diseases in this category have clear genetic bases, with mutations affecting hormone production and metabolism. Genetic testing aids early diagnosis and intervention. Genetic information guides personalized treatment plans, targeting specific genetic mutations and improving outcomes.

Technology Insights: Next-Generation Sequencing (NGS) dominated the 2022 Rare Disease Genetic Testing market and will likely continue growing. NGS revolutionizes genetic testing, offering speed, affordability, accuracy, and the analysis of large genetic datasets. It aids the identification of rare genetic mutations and enhances diagnosis and treatment precision.

Specialty Insight: Molecular genetic tests dominated the 2022 Rare Disease Genetic Testing market and are predicted to continue growing. Molecular tests analyze DNA, RNA, or proteins, diagnosing rare diseases, monitoring progression, and identifying risk.

End-Use Industry Insights: Research & Contract Research Organizations (CROs) dominated the 2022 Rare Disease Genetic Testing market and will likely continue growing. They develop genetic tests, conduct trials, and offer testing services. Research & CROs study genetic bases of rare diseases, develop treatments, and improve diagnosis and management.

Regional Insights

North America leads the Global Rare Disease Genetic Testing Market, primarily the United States and Canada. These countries possess advanced healthcare infrastructure supporting genetic testing technology development, adoption, and integration. The region's high rare disease prevalence results from factors like an aging population and increased awareness. This region's prominent healthcare landscape supports genetic testing growth and adoption.

Key Market Players

  • Centogene N.V.
  • Invitae Corp.
  • 3billion, Inc.
  • Arup Laboratories
  • Eurofins Scientific
  • Strand Life Sciences
  • Ambry Genetics
  • Perkin Elmer, Inc.
  • Realm IDX, Inc.
  • Macrogen, Inc.
  • Baylor Genetics

Report Scope:

In this report, the Global Rare Disease Genetic Testing Market has been segmented into the following categories, in addition to the industry trends which have also been detailed below:

Global Rare Disease Genetic Testing Market, By Disease Type:

  • Neurological Disease
  • Immunological Disorders
  • Hematology Diseases
  • Endocrine & Metabolism Diseases
  • Cancer
  • Musculoskeletal Disorders
  • Cardiovascular Disorders (CVDs)
  • Dermatology Disease
  • Others

Global Rare Disease Genetic Testing Market, By Speciality:

  • Molecular Genetic Tests
  • Chromosomal Genetic Tests
  • Biochemical Genetic Tests

Global Rare Disease Genetic Testing Market, By Technology:

  • Next-Generation Sequencing (NGS)
  • Whole Exome Sequencing
  • Whole Genome Sequencing
  • Array Technology
  • PCR-based Testing
  • FISH
  • Sanger Sequencing
  • Karyotyping

Global Rare Disease Genetic Testing Market, By End User:

  • Research Laboratories & CROs
  • Hospitals & Clinics
  • Diagnostic Laboratories

Global Rare Disease Genetic Testing Market, By region:

  • North America
  • United States
  • Canada
  • Mexico
  • Asia-Pacific
  • China
  • India
  • South Korea
  • Australia
  • Japan
  • Europe
  • Germany
  • France
  • United Kingdom
  • Spain
  • Italy
  • South America
  • Brazil
  • Argentina
  • Colombia
  • Middle East & Africa
  • South Africa
  • Saudi Arabia
  • UAE

Competitive Landscape

  • Company Profiles: Detailed analysis of the major companies present in the Global Rare Disease Genetic Testing Market.

Available Customizations:

  • Global Rare Disease Genetic Testings Market report with the given market data, Tech Sci Research offers customizations according to a company's specific needs. The following customization options are available for the report:

Company Information

  • Detailed analysis and profiling of additional market players (up to five).

Table of Contents

1. Product Overview

  • 1.1. Market Definition
  • 1.2. Scope of the Market
    • 1.2.1. Markets Covered
    • 1.2.2. Years Considered for Study
    • 1.2.3. Key Market Segmentations

2. Research Methodology

  • 2.1. Objective of the Study
  • 2.2. Baseline Methodology
  • 2.3. Key Industry Partners
  • 2.4. Major Association and Secondary Sources
  • 2.5. Forecasting Methodology
  • 2.6. Data Triangulation & Validation
  • 2.7. Assumptions and Limitations

3. Executive Summary

  • 3.1. Overview of the Market
  • 3.2. Overview of Key Market Segmentations
  • 3.3. Overview of Key Market Players
  • 3.4. Overview of Key Regions/Countries
  • 3.5. Overview of Market Drivers, Challenges, Trends

4. Voice of Customer

5. Pricing Analysis

6. Global Rare Disease Genetic Testing Market Outlook

  • 6.1. Market Size & Forecast
    • 6.1.1. By Value & Volume
  • 6.2. Market Share & Forecast
    • 6.2.1. By Disease Type (Neurological, CVDs)
    • 6.2.2. By Speciality (Molecular, Biochemical)
    • 6.2.3. By Technology (NGS, PCR-based)
    • 6.2.4. By End User (Research Laboratories & CROs, Hospitals & Clinics, Diagnostic Laboratories)
    • 6.2.5. By Company (2022)
    • 6.2.6. By Region
  • 6.3. Product Market Map

7. North America Rare Disease Genetic Testing Market Outlook

  • 7.1. Market Size & Forecast
    • 7.1.1. By Value & Volume
  • 7.2. Market Share & Forecast
    • 7.2.1. By Disease Type
    • 7.2.2. Speciality
    • 7.2.3. Technology
    • 7.2.4. By End-Use Industry
    • 7.2.5. By Country
  • 7.3. North America: Country Analysis
    • 7.3.1. United States Rare Disease Genetic Testing Market Outlook
      • 7.3.1.1. Market Size & Forecast
        • 7.3.1.1.1. By Value & Volume
      • 7.3.1.2. Market Share & Forecast
        • 7.3.1.2.1. By Disease Type
        • 7.3.1.2.2. By Speciality
        • 7.3.1.2.3. By Technology
        • 7.3.1.2.4. By End-Use Industry
    • 7.3.2. Mexico Rare Disease Genetic Testing Market Outlook
      • 7.3.2.1. Market Size & Forecast
        • 7.3.2.1.1. By Value & Volume
      • 7.3.2.2. Market Share & Forecast
        • 7.3.2.2.1. By Disease Type
        • 7.3.2.2.2. By Speciality
        • 7.3.2.2.3. By Technology
        • 7.3.2.2.4. By End-Use Industry
    • 7.3.3. Canada Rare Disease Genetic Testing Market Outlook
      • 7.3.3.1. Market Size & Forecast
        • 7.3.3.1.1. By Value & Volume
      • 7.3.3.2. Market Share & Forecast
        • 7.3.3.2.1. By Disease Type
        • 7.3.3.2.2. By Speciality
        • 7.3.3.2.3. By Technology
        • 7.3.3.2.4. By End-Use Industry

8. Europe Rare Disease Genetic Testing Market Outlook

  • 8.1. Market Size & Forecast
    • 8.1.1. By Value & Volume
  • 8.2. Market Share & Forecast
    • 8.2.1. By Disease Type
    • 8.2.2. By Speciality
    • 8.2.3. By Technology
    • 8.2.4. By End-Use Industry
    • 8.2.5. By Country
  • 8.3. Europe: Country Analysis
    • 8.3.1. France Rare Disease Genetic Testing Market Outlook
      • 8.3.1.1. Market Size & Forecast
        • 8.3.1.1.1. By Value & Volume
      • 8.3.1.2. Market Share & Forecast
        • 8.3.1.2.1. By Disease Type
        • 8.3.1.2.2. By Speciality
        • 8.3.1.2.3. By Technology
        • 8.3.1.2.4. By End-Use Industry
    • 8.3.2. Germany Rare Disease Genetic Testing Market Outlook
      • 8.3.2.1. Market Size & Forecast
        • 8.3.2.1.1. By Value & Volume
      • 8.3.2.2. Market Share & Forecast
        • 8.3.2.2.1. By Disease Type
        • 8.3.2.2.2. By Speciality
        • 8.3.2.2.3. By Technology
        • 8.3.2.2.4. By End-Use Industry
    • 8.3.3. United Kingdom Rare Disease Genetic Testing Market Outlook
      • 8.3.3.1. Market Size & Forecast
        • 8.3.3.1.1. By Value & Volume
      • 8.3.3.2. Market Share & Forecast
        • 8.3.3.2.1. By Disease Type
        • 8.3.3.2.2. B Speciality
        • 8.3.3.2.3. By Technology
        • 8.3.3.2.4. By End-Use Industry
    • 8.3.4. Italy Rare Disease Genetic Testing Market Outlook
      • 8.3.4.1. Market Size & Forecast
        • 8.3.4.1.1. By Value & Volume
      • 8.3.4.2. Market Share & Forecast
        • 8.3.4.2.1. By Disease Type
        • 8.3.4.2.2. By Speciality
        • 8.3.4.2.3. By Technology
        • 8.3.4.2.4. By End-Use Industry
    • 8.3.5. Spain Rare Disease Genetic Testing Market Outlook
      • 8.3.5.1. Market Size & Forecast
        • 8.3.5.1.1. By Value & Volume
      • 8.3.5.2. Market Share & Forecast
        • 8.3.5.2.1. By Disease Type
        • 8.3.5.2.2. By Speciality
        • 8.3.5.2.3. By Technology
        • 8.3.5.2.4. By End-Use Industry

9. Asia-Pacific Rare Disease Genetic Testing Market Outlook

  • 9.1. Market Size & Forecast
    • 9.1.1. By Value & Volume
  • 9.2. Market Share & Forecast
    • 9.2.1. By Disease Type
    • 9.2.2. By Speciality
    • 9.2.3. By Technology
    • 9.2.4. By End-Use Industry
    • 9.2.5. By Country
  • 9.3. Asia-Pacific: Country Analysis
    • 9.3.1. China Rare Disease Genetic Testing Market Outlook
      • 9.3.1.1. Market Size & Forecast
        • 9.3.1.1.1. By Value & Volume
      • 9.3.1.2. Market Share & Forecast
        • 9.3.1.2.1. By Disease Type
        • 9.3.1.2.2. By Speciality
        • 9.3.1.2.3. By Technology
        • 9.3.1.2.4. By End-Use Industry
    • 9.3.2. India Rare Disease Genetic Testing Market Outlook
      • 9.3.2.1. Market Size & Forecast
        • 9.3.2.1.1. By Value & Volume
      • 9.3.2.2. Market Share & Forecast
        • 9.3.2.2.1. By Disease Type
        • 9.3.2.2.2. By Speciality
        • 9.3.2.2.3. By Technology
        • 9.3.2.2.4. By End-Use Industry
    • 9.3.3. South Korea Rare Disease Genetic Testing Market Outlook
      • 9.3.3.1. Market Size & Forecast
        • 9.3.3.1.1. By Value & Volume
      • 9.3.3.2. Market Share & Forecast
        • 9.3.3.2.1. By Disease Type
        • 9.3.3.2.2. By Speciality
        • 9.3.3.2.3. By Technology
        • 9.3.3.2.4. By End-Use Industry
    • 9.3.4. Japan Rare Disease Genetic Testing Market Outlook
      • 9.3.4.1. Market Size & Forecast
        • 9.3.4.1.1. By Value & Volume
      • 9.3.4.2. Market Share & Forecast
        • 9.3.4.2.1. By Type
        • 9.3.4.2.2. By End-Use Industry
    • 9.3.5. Australia Rare Disease Genetic Testing Market Outlook
      • 9.3.5.1. Market Size & Forecast
        • 9.3.5.1.1. By Value & Volume
      • 9.3.5.2. Market Share & Forecast
        • 9.3.5.2.1. By Disease Type
        • 9.3.5.2.2. By Speciality
        • 9.3.5.2.3. By Technology
        • 9.3.5.2.4. By End-Use Industry

10. South America Rare Disease Genetic Testing Market Outlook

  • 10.1. Market Size & Forecast
    • 10.1.1. By Value & Volume
  • 10.2. Market Share & Forecast
    • 10.2.1. By Disease Type
    • 10.2.2. By Speciality
    • 10.2.3. By Technology
    • 10.2.4. By End-Use Industry
    • 10.2.5. By Country
  • 10.3. South America: Country Analysis
    • 10.3.1. Brazil Rare Disease Genetic Testing Market Outlook
      • 10.3.1.1. Market Size & Forecast
        • 10.3.1.1.1. By Value & Volume
      • 10.3.1.2. Market Share & Forecast
        • 10.3.1.2.1. By Disease Type
        • 10.3.1.2.2. By Speciality
        • 10.3.1.2.3. By Technology
        • 10.3.1.2.4. By End-Use Industry
    • 10.3.2. Argentina Rare Disease Genetic Testing Market Outlook
      • 10.3.2.1. Market Size & Forecast
        • 10.3.2.1.1. By Value & Volume
      • 10.3.2.2. Market Share & Forecast
        • 10.3.2.2.1. By Disease Type
        • 10.3.2.2.2. By Speciality
        • 10.3.2.2.3. By Technology
        • 10.3.2.2.4. By End-Use Industry
    • 10.3.3. Colombia Rare Disease Genetic Testing Market Outlook
      • 10.3.3.1. Market Size & Forecast
        • 10.3.3.1.1. By Value & Volume
      • 10.3.3.2. Market Share & Forecast
        • 10.3.3.2.1. By Disease Type
        • 10.3.3.2.2. By Speciality
        • 10.3.3.2.3. By Technology
        • 10.3.3.2.4. By End-Use Industry

11. Middle East and Africa Rare Disease Genetic Testing Market Outlook

  • 11.1. Market Size & Forecast
    • 11.1.1. By Value & Volume
  • 11.2. Market Share & Forecast
    • 11.2.1. By Disease Type
    • 11.2.2. By Speciality
    • 11.2.3. By Technology
    • 11.2.4. By End-Use Industry
    • 11.2.5. By Country
  • 11.3. MEA: Country Analysis
    • 11.3.1. South Africa Rare Disease Genetic Testing Market Outlook
      • 11.3.1.1. Market Size & Forecast
        • 11.3.1.1.1. By Value & Volume
      • 11.3.1.2. Market Share & Forecast
        • 11.3.1.2.1. By Disease Type
        • 11.3.1.2.2. By Speciality
        • 11.3.1.2.3. By Technology
        • 11.3.1.2.4. By End-Use Industry
    • 11.3.2. Saudi Arabia Rare Disease Genetic Testing Market Outlook
      • 11.3.2.1. Market Size & Forecast
        • 11.3.2.1.1. By Value & Volume
      • 11.3.2.2. Market Share & Forecast
        • 11.3.2.2.1. By Disease Type
        • 11.3.2.2.2. By Speciality
        • 11.3.2.2.3. By Technology
        • 11.3.2.2.4. By End-Use Industry
    • 11.3.3. UAE Rare Disease Genetic Testing Market Outlook
      • 11.3.3.1. Market Size & Forecast
        • 11.3.3.1.1. By Value & Volume
      • 11.3.3.2. Market Share & Forecast
        • 11.3.3.2.1. By Disease Type
        • 11.3.3.2.2. By Speciality
        • 11.3.3.2.3. By Technology
        • 11.3.3.2.4. By End-Use Industry

12. Market Dynamics

  • 12.1. Drivers
  • 12.2. Challenges

13. Market Trends & Developments

  • 13.1. Recent Developments
  • 13.2. Product Launches
  • 13.3. Mergers & Acquisitions

14. PESTLE Analysis

15. Porter's Five Forces Analysis

  • 15.1. Competition in the Industry
  • 15.2. Potential of New Entrants
  • 15.3. Power of Suppliers
  • 15.4. Power of Customers
  • 15.5. Threat of Substitute Product

16. Competitive Landscape

  • 16.1. Business Overview
  • 16.2. Company Snapshot
  • 16.3. Products & Services
  • 16.4. Financials (In case of listed companies)
  • 16.5. Recent Developments
  • 16.6. SWOT Analysis
    • 16.6.1. Centogene N.V.
    • 16.6.2. Invitae Corp.
    • 16.6.3. 3billion, Inc.
    • 16.6.4. Arup Laboratories
    • 16.6.5. Eurofins Scientific
    • 16.6.6. Strand Life Sciences
    • 16.6.7. Ambry Genetics
    • 16.6.8. Perkin Elmer, Inc.
    • 16.6.9. Realm IDX, Inc.
    • 16.6.10. Macrogen, Inc.

17. Strategic Recommendations