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罕见病诊断市场 - 2017-2027年全球行业规模、份额、趋势、机会和预测，按适应症、按性状类型、按测试类型、按技术、按样本类型、按终端用户、按公司和按地区划分
市场调查报告书
商品编码
1289657

罕见病诊断市场 - 2017-2027年全球行业规模、份额、趋势、机会和预测，按适应症、按性状类型、按测试类型、按技术、按样本类型、按终端用户、按公司和按地区划分

Rare Disease Diagnostics Market - Global Industry Size, Share, Trends, Opportunity, and Forecast, 2017-2027 Segmented By Indication, By Trait Type, By Test Type, By Technology, By Sample Type, By End User, By company and By Region
出版日期: | 出版商: TechSci Research | 英文 117 Pages | 商品交期: 2-3个工作天内

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简介目录

在2023-2027年的预测期内，全球罕见病诊断市场预计将出现令人瞩目的增长。主要因素包括罕见疾病发病率的增长、先进技术的采用以及研发投资的增加都在推动着市场的增长。罕见病或孤儿病是指影响一小部分人口的任何疾病。支持市场增长的其他因素是，政府不断增加宣传倡议，扩大罕见疾病患者登记册，测序成本下降，老年人口增加，罕见疾病诊断项目和新产品开发不断推出，以及研发活动的增加。

罕见疾病发病率的上升将推动市场的增长。

罕见病并不罕见，因为有很多人正在遭受这种疾病。它们比艾滋病和癌症的组合影响更多的人。例如，根据《欧洲人类遗传学杂志》，全球患有罕见疾病的人数估计为3亿人。由于患有罕见疾病的人数增加，如丙种球蛋白血症、古德帕斯特综合征、多发性肉芽肿病（GPA，原韦格纳肉芽肿病）、白细胞粘附缺陷症、小儿布鲁顿丙种球蛋白血症、小儿严重联合免疫缺陷症、施尼茨勒综合征等，对诊断的需求激增，促进了市场的增长。

疾病诊断方面的技术进步

罕见病诊断领域采用先进技术的增加正在增强市场的增长。新的创新技术和进步，如人工智能（AI）、基于NGS的测试和自动化技术，有助于减少时间和成本，与标准的人工分析相比，能够实现更准确的诊断。例如，增加采用全外显子组测序（WES）的基因测试工具。该技术只针对外显子，它占整个基因组的1-2%，包括所有致病突变的80%。

对诊断罕见病的认识不断提高

罕见病的早期诊断是至关重要的，因为它可以帮助人们及时治疗这些疾病而不至于遭受痛苦。因此，公众和患者对罕见病认识的提高，促进了市场的增长。政府和非政府组织采取了各种倡议，让人们了解疾病的早期诊断和治疗。例如，美国国立卫生研究院每年都会举办罕见病日，旨在提高人们对罕见病的认识以及它们对患者生活的影响。

可用的定制服务

利用给定的市场数据，TechSci Research根据公司的具体需求提供定制服务。该报告有以下定制选项：

公司信息

  • 其他市场参与者（最多5家）的详细分析和概况。

目录

第一章：产品概述

第二章：研究方法

第三章：执行摘要

第四章：COVID-19对全球罕见病诊断市场的影响

第五章：客户的声音

第六章：全球罕见病诊断市场展望

  • 市场规模和预测
    • 按价值
  • 市场份额和预测
    • 按适应症（消化系统疾病、内分泌和代谢疾病、心血管疾病、血液和肿瘤疾病、其他）分类
    • 按性状类型（遗传性与获得性）分类
    • 按测试类型（基因测试、普通实验室测试、影像诊断、其他）
    • 按技术分类（下一代测序、全基因组测序、全外显子组测序、芯片、其他）
    • 按样本类型（DNA样本、血液样本、唾液样本、其他）
    • 按终端用户（医院和诊所、学术和研究机构、其他）分类
    • 按地区分类
    • 按公司分类（2021年）
  • 市场地图

第七章：北美罕见病诊断市场展望

  • 市场规模和预测
    • 按价值分类
  • 市场份额与预测
    • 按适应症分类
    • 按性状类型
    • 按测试类型
    • 按技术分类
    • 按样品类型
    • 按终端用户分类
    • 按国家分类
  • 北美洲：国家分析
    • 美国
    • 美国
    • 墨西哥

第8章：欧洲罕见病诊断市场前景

  • 市场规模和预测
    • 按价值
  • 市场份额与预测
    • 按适应症分类
    • 按性状类型
    • 按测试类型
    • 按技术分类
    • 按样品类型
    • 按终端用户分类
    • 按国家分类
  • 欧洲：国家分析
    • 法国
    • 德国
    • 英国
    • 意大利
    • 西班牙

第九章：亚太地区罕见病诊断市场前景

  • 市场规模和预测
    • 按价值
  • 市场份额与预测
    • 按适应症分类
    • 按性状类型
    • 按测试类型
    • 按技术分类
    • 按样品类型
    • 按终端用户分类
    • 按国家分类
  • 亚太地区：国家分析
    • 中国
    • 印度
    • 日本
    • 韩国
    • 澳大利亚

第十章：南美罕见病诊断市场前景

  • 市场规模和预测
    • 按价值
  • 市场份额与预测
    • 按适应症分类
    • 按性状类型
    • 按测试类型
    • 按技术分类
    • 按样品类型
    • 按终端用户分类
    • 按国家分类
  • 南美洲：国家分析
    • 巴西
    • 阿根廷
    • 哥伦比亚

第11章 ：中东和非洲的罕见病诊断市场前景

  • 市场规模和预测
    • 按价值
  • 市场份额和预测
    • 按适应症分类
    • 按性状类型
    • 按测试类型
    • 按技术分类
    • 按样品类型
    • 按终端用户分类
    • 按国家分类
  • MEA: 国家分析
    • 南非 罕见病诊断法
    • 沙特阿拉伯 罕见病诊断
    • 阿联酋 罕见病诊断

第十二章 ：市场动态

  • 驱动力
  • 挑战

第十三章 ：市场趋势和发展

第十四章：竞争格局（包括SWOT分析）

  • 安捷伦科技公司（Agilent Technologies, Inc.
  • Illumina, Inc.
  • QIAGEN NV
  • 珀金埃尔默公司
  • Quest Diagnostics, Inc.
  • CENTOGENE N.V.
  • 23andMe, Inc.
  • 3billion, Inc.
  • Eurofins Scientific SE
  • Invitae公司

第十五章：战略建议

简介目录
Product Code: 13047

The global rare disease diagnostics market is anticipated to observe impressive growth during the forecast period 2023-2027. The major factors include the growing incidence of rare disorders, adoption of advanced technology, and increase in investments in R&D are impelling the growth of the market. Rare diseases or orphan diseases is any disease that affects a small percentage of the population. The other factors supporting the market's growth are, increasing government initiatives for spreading awareness, expanding patient registry for rare diseases, declining sequencing cost, rising geriatric population, the growing launch of programs & new product development in rare disease diagnosis, and rise in research and development activities.

The rising incidence of rare disorders will fuel the market growth.

Rare diseases are not rarer as there are many people who are suffering from the disease. They affect more people than the combination of AIDS & Cancer. For instance, as per the European Journal of Human Genetics, the number of people living with a rare disease is estimated at 300 million across the globe. Owing to the rise in the number of people suffering from rare diseases such as Agammaglobulinemia, Goodpasture Syndrome, Granulomatosis with Polyangiitis (GPA, formerly Wegener Granulomatosis), Leukocyte Adhesion Deficiency, Pediatric Bruton Agammaglobulinemia, Pediatric Severe Combined Immunodeficiency, Schnitzler Syndrome and others, the surge in demand for the diagnosis is bolstering the growth of the market.

Technological Advancements in Disease Diagnosis

The rise in the adoption of advanced technology in the field of rare diseases diagnostic is augmenting the growth of the market. New innovative technologies and advancements such as artificial intelligence (AI), NGS-based testing, and automation technology are assisting in reducing time and cost and enabling more accurate diagnosis when compared to standard manual analysis. For instance, increase in the adoption of the Whole Exome Sequencing (WES) genetic testing tool. The technique aims only at exons, which make 1-2% of the whole genome and include 80% of all disease-causing mutations.

Rising Awareness of diagnosis of rare diseases

Early diagnosis of rare diseases is essential as it can help people to treat these conditions timely without suffering. Thus, the rise in awareness about rare diseases among the general public and patients is facilitating the growth of the market. Various initiatives by government and non-government organizations are taken to make people aware of the early diagnosis and treatment of the disease. For instance, every year, rare diseases day at NIH takes place, which aims to raise awareness about rare diseases and the impact they have on patient's lives.

Market Segmentation

The global rare disease diagnostics market is segmented into indication, trait type, test type, technology, sample type, end user, and company. Based on indication, the market is divided into gastroenterology disease, endocrine & metabolism disorders disease, cardiovascular disorders, hematology & oncology disease, and others. Based on trait type, the market is divided into inherited and acquired. Based on test type, the market is segmented into genetic tests, general lab tests, diagnostic imaging, and others. Based on technology, the market is divided into next-generation sequencing, whole genome sequencing, whole exome sequencing, microarrays, and others. Based on sample type, the market is divided into DNA samples, blood sample, saliva samples, and others. Based on end-user, the market is divided into hospitals & clinics, academic & research institutes, and others. In terms of country, the United States is expected to be a lucrative market in the forecast period due to rising occurrences of rare diseases in the country.

Market Players

Agilent Technologies, Inc., Illumina, Inc., QIAGEN NV, PerkinElmer, Inc, Quest Diagnostics, Inc., CENTOGENE N.V., 23andMe, Inc., 3billion, Inc., Eurofins Scientific SE, and Invitae Corporation are some of the leading companies operating in the market.

Report Scope

In this report, global rare disease diagnostics market has been segmented into the following categories, in addition to the industry trends which have also been detailed below:

Rare Disease Diagnostics Market, By Indication:

  • Gastroenterology Disease
  • Endocrine & Metabolism Disorders Disease
  • Cardiovascular Disorders
  • Hematology & Oncology Disease
  • Others

Rare Disease Diagnostics Market, By Trait Type:

  • Inherited
  • Acquired

Rare Disease Diagnostics Market, By Test Type:

  • Genetic Tests
  • General Lab Tests
  • Diagnostic Imaging
  • Others

Rare Disease Diagnostics Market, By Technology:

  • Next Generation Sequencing
  • Whole Genome Sequencing
  • Whole Exome Sequencing
  • Microarrays
  • Others

Rare Disease Diagnostics Market, By Sample Type:

  • DNA Sample
  • Blood Sample
  • Saliva Sample
  • Others

Rare Disease Diagnostics Market, By End User:

  • Hospitals & Clinics
  • Academic & Research Institutes
  • Others

Rare Disease Diagnostics Market, By Region:

  • North America
    • United States
    • Canada
    • Mexico
  • Asia-Pacific
    • China
    • India
    • Japan
    • Australia
    • South Korea
  • Europe & CIS
    • 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 Global Rare Disease Diagnostics Market

Available Customizations

With the given market data, TechSci 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

2. Research Methodology

3. Executive Summary

4. Impact of COVID-19 on Global Rare Disease Diagnostics Market

5. Voice of Customer

6. Global Rare Disease Diagnostics Market Outlook

  • 6.1. Market Size & Forecast
    • 6.1.1. By Value
  • 6.2. Market Share & Forecast
    • 6.2.1. By Indication (Gastroenterology Disease, Endocrine & Metabolism Disorders Disease, Cardiovascular Disorders, Hematology & Oncology Disease, Others)
    • 6.2.2. By Trait Type (Inherited v/s Acquired)
    • 6.2.3. By Test Type (Genetic Tests, General Lab Tests, Diagnostic Imaging, Others)
    • 6.2.4. By Technology (Next Generation Sequencing, Whole Genome Sequencing, Whole Exome Sequencing, Microarrays, Others)
    • 6.2.5. By Sample Type (DNA Sample, Blood Sample, Saliva Sample, Others)
    • 6.2.6. By End User (Hospitals & Clinics, Academic & Research Institutes, Others)
    • 6.2.7. By Region
    • 6.2.8. By Company (2021)
  • 6.3. Market Map

7. North America Rare Disease Diagnostics Market Outlook

  • 7.1. Market Size & Forecast
    • 7.1.1. By Value
  • 7.2. Market Share & Forecast
    • 7.2.1. By Indication
    • 7.2.2. By Trait Type
    • 7.2.3. By Test Type
    • 7.2.4. By Technology
    • 7.2.5. By Sample Type
    • 7.2.6. By End User
    • 7.2.7. By Country
  • 7.3. North America: Country Analysis
    • 7.3.1. United States Rare Disease Diagnostics Market Outlook
      • 7.3.1.1. Market Size & Forecast
        • 7.3.1.1.1. By Value
      • 7.3.1.2. Market Share & Forecast
        • 7.3.1.2.1. By Indication
        • 7.3.1.2.2. By Trait Type
        • 7.3.1.2.3. By Test Type
        • 7.3.1.2.4. By Technology
        • 7.3.1.2.5. By Sample Type
        • 7.3.1.2.6. By End User
    • 7.3.2. Canada Rare Disease Diagnostics Market Outlook
      • 7.3.2.1. Market Size & Forecast
        • 7.3.2.1.1. By Value
      • 7.3.2.2. Market Share & Forecast
        • 7.3.2.2.1. By Indication
        • 7.3.2.2.2. By Trait Type
        • 7.3.2.2.3. By Test Type
        • 7.3.2.2.4. By Technology
        • 7.3.2.2.5. By Sample Type
        • 7.3.2.2.6. By End User
    • 7.3.3. Mexico Rare Disease Diagnostics Market Outlook
      • 7.3.3.1. Market Size & Forecast
        • 7.3.3.1.1. By Value
      • 7.3.3.2. Market Share & Forecast
        • 7.3.3.2.1. By Indication
        • 7.3.3.2.2. By Trait Type
        • 7.3.3.2.3. By Test Type
        • 7.3.3.2.4. By Technology
        • 7.3.3.2.5. By Sample Type
        • 7.3.3.2.6. By End User

8. Europe Rare Disease Diagnostics Market Outlook

  • 8.1. Market Size & Forecast
    • 8.1.1. By Value
  • 8.2. Market Share & Forecast
    • 8.2.1. By Indication
    • 8.2.2. By Trait Type
    • 8.2.3. By Test Type
    • 8.2.4. By Technology
    • 8.2.5. By Sample Type
    • 8.2.6. By End User
    • 8.2.7. By Country
  • 8.3. Europe: Country Analysis
    • 8.3.1. France Rare Disease Diagnostics Market Outlook
      • 8.3.1.1. Market Size & Forecast
        • 8.3.1.1.1. By Value
      • 8.3.1.2. Market Share & Forecast
        • 8.3.1.2.1. By Indication
        • 8.3.1.2.2. By Trait Type
        • 8.3.1.2.3. By Test Type
        • 8.3.1.2.4. By Technology
        • 8.3.1.2.5. By Sample Type
        • 8.3.1.2.6. By End User
    • 8.3.2. Germany Rare Disease Diagnostics Market Outlook
      • 8.3.2.1. Market Size & Forecast
        • 8.3.2.1.1. By Value
      • 8.3.2.2. Market Share & Forecast
        • 8.3.2.2.1. By Indication
        • 8.3.2.2.2. By Trait Type
        • 8.3.2.2.3. By Test Type
        • 8.3.2.2.4. By Technology
        • 8.3.2.2.5. By Sample Type
        • 8.3.2.2.6. By End User
    • 8.3.3. United Kingdom Rare Disease Diagnostics Market Outlook
      • 8.3.3.1. Market Size & Forecast
        • 8.3.3.1.1. By Value
      • 8.3.3.2. Market Share & Forecast
        • 8.3.3.2.1. By Indication
        • 8.3.3.2.2. By Trait Type
        • 8.3.3.2.3. By Test Type
        • 8.3.3.2.4. By Technology
        • 8.3.3.2.5. By Sample Type
        • 8.3.3.2.6. By End User
    • 8.3.4. Italy Rare Disease Diagnostics Market Outlook
      • 8.3.4.1. Market Size & Forecast
        • 8.3.4.1.1. By Value
      • 8.3.4.2. Market Share & Forecast
        • 8.3.4.2.1. By Indication
        • 8.3.4.2.2. By Trait Type
        • 8.3.4.2.3. By Test Type
        • 8.3.4.2.4. By Technology
        • 8.3.4.2.5. By Sample Type
        • 8.3.4.2.6. By End User
    • 8.3.5. Spain Rare Disease Diagnostics Market Outlook
      • 8.3.5.1. Market Size & Forecast
        • 8.3.5.1.1. By Value
      • 8.3.5.2. Market Share & Forecast
        • 8.3.5.2.1. By Indication
        • 8.3.5.2.2. By Trait Type
        • 8.3.5.2.3. By Test Type
        • 8.3.5.2.4. By Technology
        • 8.3.5.2.5. By Sample Type
        • 8.3.5.2.6. By End User

9. Asia-Pacific Rare Disease Diagnostics Market Outlook

  • 9.1. Market Size & Forecast
    • 9.1.1. By Value
  • 9.2. Market Share & Forecast
    • 9.2.1. By Indication
    • 9.2.2. By Trait Type
    • 9.2.3. By Test Type
    • 9.2.4. By Technology
    • 9.2.5. By Sample Type
    • 9.2.6. By End User
    • 9.2.7. By Country
  • 9.3. Asia-Pacific: Country Analysis
    • 9.3.1. China Rare Disease Diagnostics Market Outlook
      • 9.3.1.1. Market Size & Forecast
        • 9.3.1.1.1. By Value
      • 9.3.1.2. Market Share & Forecast
        • 9.3.1.2.1. By Indication
        • 9.3.1.2.2. By Trait Type
        • 9.3.1.2.3. By Test Type
        • 9.3.1.2.4. By Technology
        • 9.3.1.2.5. By Sample Type
        • 9.3.1.2.6. By End User
    • 9.3.2. India Rare Disease Diagnostics Market Outlook
      • 9.3.2.1. Market Size & Forecast
        • 9.3.2.1.1. By Value
      • 9.3.2.2. Market Share & Forecast
        • 9.3.2.2.1. By Indication
        • 9.3.2.2.2. By Trait Type
        • 9.3.2.2.3. By Test Type
        • 9.3.2.2.4. By Technology
        • 9.3.2.2.5. By Sample Type
        • 9.3.2.2.6. By End User
    • 9.3.3. Japan Rare Disease Diagnostics Market Outlook
      • 9.3.3.1. Market Size & Forecast
        • 9.3.3.1.1. By Value
      • 9.3.3.2. Market Share & Forecast
        • 9.3.3.2.1. By Indication
        • 9.3.3.2.2. By Trait Type
        • 9.3.3.2.3. By Test Type
        • 9.3.3.2.4. By Technology
        • 9.3.3.2.5. By Sample Type
        • 9.3.3.2.6. By End User
    • 9.3.4. South Korea Rare Disease Diagnostics Market Outlook
      • 9.3.4.1. Market Size & Forecast
        • 9.3.4.1.1. By Value
      • 9.3.4.2. Market Share & Forecast
        • 9.3.4.2.1. By Indication
        • 9.3.4.2.2. By Trait Type
        • 9.3.4.2.3. By Test Type
        • 9.3.4.2.4. By Technology
        • 9.3.4.2.5. By Sample Type
        • 9.3.4.2.6. By End User
    • 9.3.5. Australia Rare Disease Diagnostics Market Outlook
      • 9.3.5.1. Market Size & Forecast
        • 9.3.5.1.1. By Value
      • 9.3.5.2. Market Share & Forecast
        • 9.3.5.2.1. By Indication
        • 9.3.5.2.2. By Trait Type
        • 9.3.5.2.3. By Test Type
        • 9.3.5.2.4. By Technology
        • 9.3.5.2.5. By Sample Type
        • 9.3.5.2.6. By End User

10. South America Rare Disease Diagnostics Market Outlook

  • 10.1. Market Size & Forecast
    • 10.1.1. By Value
  • 10.2. Market Share & Forecast
    • 10.2.1. By Indication
    • 10.2.2. By Trait Type
    • 10.2.3. By Test Type
    • 10.2.4. By Technology
    • 10.2.5. By Sample Type
    • 10.2.6. By End User
    • 10.2.7. By Country
  • 10.3. South America: Country Analysis
    • 10.3.1. Brazil Rare Disease Diagnostics Market Outlook
      • 10.3.1.1. Market Size & Forecast
        • 10.3.1.1.1. By Value
      • 10.3.1.2. Market Share & Forecast
        • 10.3.1.2.1. By Indication
        • 10.3.1.2.2. By Trait Type
        • 10.3.1.2.3. By Test Type
        • 10.3.1.2.4. By Technology
        • 10.3.1.2.5. By Sample Type
        • 10.3.1.2.6. By End User
    • 10.3.2. Argentina Rare Disease Diagnostics Market Outlook
      • 10.3.2.1. Market Size & Forecast
        • 10.3.2.1.1. By Value
      • 10.3.2.2. Market Share & Forecast
        • 10.3.2.2.1. By Indication
        • 10.3.2.2.2. By Trait Type
        • 10.3.2.2.3. By Test Type
        • 10.3.2.2.4. By Technology
        • 10.3.2.2.5. By Sample Type
        • 10.3.2.2.6. By End User
    • 10.3.3. Colombia Rare Disease Diagnostics Market Outlook
      • 10.3.3.1. Market Size & Forecast
        • 10.3.3.1.1. By Value
      • 10.3.3.2. Market Share & Forecast
        • 10.3.3.2.1. By Indication
        • 10.3.3.2.2. By Trait Type
        • 10.3.3.2.3. By Test Type
        • 10.3.3.2.4. By Technology
        • 10.3.3.2.5. By Sample Type
        • 10.3.3.2.6. By End User

11. Middle East and Africa Rare Disease Diagnostics Market Outlook

  • 11.1. Market Size & Forecast
    • 11.1.1. By Value
  • 11.2. Market Share & Forecast
    • 11.2.1. By Indication
    • 11.2.2. By Trait Type
    • 11.2.3. By Test Type
    • 11.2.4. By Technology
    • 11.2.5. By Sample Type
    • 11.2.6. By End User
    • 11.2.7. By Country
  • 11.3. MEA: Country Analysis
    • 11.3.1. South Africa Rare Disease Diagnostics Market Outlook
      • 11.3.1.1. Market Size & Forecast
        • 11.3.1.1.1. By Value
      • 11.3.1.2. Market Share & Forecast
        • 11.3.1.2.1. By Indication
        • 11.3.1.2.2. By Trait Type
        • 11.3.1.2.3. By Test Type
        • 11.3.1.2.4. By Technology
        • 11.3.1.2.5. By Sample Type
        • 11.3.1.2.6. By End User
    • 11.3.2. Saudi Arabia Rare Disease Diagnostics Market Outlook
      • 11.3.2.1. Market Size & Forecast
        • 11.3.2.1.1. By Value
      • 11.3.2.2. Market Share & Forecast
        • 11.3.2.2.1. By Indication
        • 11.3.2.2.2. By Trait Type
        • 11.3.2.2.3. By Test Type
        • 11.3.2.2.4. By Technology
        • 11.3.2.2.5. By Sample Type
        • 11.3.2.2.6. By End User
    • 11.3.3. UAE Rare Disease Diagnostics Market Outlook
      • 11.3.3.1. Market Size & Forecast
        • 11.3.3.1.1. By Value
      • 11.3.3.2. Market Share & Forecast
        • 11.3.3.2.1. By Indication
        • 11.3.3.2.2. By Trait Type
        • 11.3.3.2.3. By Test Type
        • 11.3.3.2.4. By Technology
        • 11.3.3.2.5. By Sample Type
        • 11.3.3.2.6. By End User

12. Market Dynamics

  • 12.1. Drivers
  • 12.2. Challenges

13. Market Trends & Developments

14. Competitive Landscape (Inclusive of SWOT Analysis)

  • 14.1. Agilent Technologies, Inc.
  • 14.2. Illumina, Inc.
  • 14.3. QIAGEN NV
  • 14.4. PerkinElmer, Inc
  • 14.5. Quest Diagnostics, Inc.
  • 14.6. CENTOGENE N.V.
  • 14.7. 23andMe, Inc.
  • 14.8. 3billion, Inc.
  • 14.9. Eurofins Scientific SE
  • 14.10. Invitae Corporation

15. Strategic Recommendations