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市场调查报告书
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1701397

罕见疾病基因检测市场规模、份额、趋势分析报告:按疾病、技术、专业、最终用途、地区、细分市场预测,2025-2030 年

Rare Disease Genetic Testing Market Size, Share & Trends Analysis Report By Disease, By Technology, By Specialty, By End-use, By Region, And Segment Forecasts, 2025 - 2030

出版日期: | 出版商: Grand View Research | 英文 180 Pages | 商品交期: 2-10个工作天内

价格

罕见疾病基因检测市场的成长与趋势:

根据Grand View Research, Inc.的最新报告,全球罕见疾病基因检测市场规模预计到2030年将达到25.2亿美元,2025年至2030年的复合年增长率为15.3%。

有效的应对罕见疾病的监管计划是该行业的主要驱动力之一。此外,许多提供相关疾病数据和资讯的登记机构的存在也促进了过去几年收益的成长。持续举办会议以提高人们对罕见和极罕见疾病的认识,预计将促进诊断试剂套件和服务的采用。例如,在英国、德国、荷兰和波兰设有办事处的 Ergomed 和 PSR Orphan Experts 参与了旨在提高该领域认识的各种活动。

此外,加拿大罕见疾病组织 (CORD) 为简化卫生政策和专注于管理患有罕见疾病患者的卫生系统提供了强大的平台。该研究所与临床医生、研究人员、政府和诊断产业合作,推动国内所有罕见疾病的研发、诊断、治疗和服务提供。根据美国卫生研究院 (NIH) 的数据,大约有 3000 万美国人被确诊患有 7000 多种已知的罕见疾病之一。随着人们认识的提高,预计未来几年接受该疾病检测的患者数量将会增加。在美国,庆祝罕见疾病日是为了提高人们的认识并鼓励该领域的发展。

此外,罕见疾病临床研究网络 (RDCRN) 是一个由 NIH 资助的研究网络,由 23 个活跃的联盟和研究小组组成,致力于让患者、研究人员和临床医生专注于疾病的诊断和治疗。在 COVID-19 疫情期间,未确诊罕见疾病患者面临重大健康挑战。根据美国研究小组于2021年1月发表的一项研究,迫切需要开发能够缓解罕见和未确诊疾病(RUD)患者及其家人所面临的严重挑战的方法。这些挑战包括诊断和预后的不确定性,加上医疗保健的复杂性,导致更差的健康结果。

病患权益团体和专业社群已加强应对疫情带来的挑战。例如,稀有染色体支持小组 (UNIQUE)、英国基因组医学学会和英国遗传联盟等组织积极参与支持、倡导和告知患有这种疾病的患者。一些罕见疾病仍未分类。慈善机构 SWAN UK 估计,英国每年约有 6,000 名婴儿出生时患有这种遗传疾病。因此,无法做出适当的诊断或预测实证治疗的预后。目前,英国接受基因检测的儿童中约有 50% 未能明确的诊断。

大约 50% 患有学习障碍的儿童和 60% 患有先天性疾病的儿童无法得到明确的诊断以确定其残疾的原因。此外,患者和家属对诊断和基因检测缺乏认识,进一步阻碍了该行业的发展。由于罕见疾病发病率高、註册数量高、该领域拥有大量研发设施以及在诊断方面投入大量资金,北美在 2021 年占据了该行业的主导地位。由于有大量专注于疾病管理的组织,预计亚太地区在预测期内的复合年增长率将最快。

罕见疾病基因检测市场报告重点

  • 预计免疫学领域将在 2024 年占据 12.56% 的最大份额,并有望在预测期内延续这一趋势。
  • 2024 年,次世代定序领域占最大份额,为 35.50%。基于 NGS 的癌症、神经系统疾病、心血管疾病、儿科疾病、精神疾病和其他罕见疾病的基因组的广泛普及和采用,极大地推动了这一领域的发展。
  • 根据专业性,分子遗传检测领域将在 2024 年占据最大的收益占有率,为 41.12%,预计在预测期内将以最快的复合年增长率保持其主导地位。
  • 根据最终用途,由于与基因检测公司的合作和伙伴关係不断增加,诊断检测部门预计在研究期间的复合年增长率为 17.36%。

目录

第一章调查方法与范围

第二章执行摘要

3. 罕见疾病基因检测市场变数、趋势与范围

  • 市场展望
    • 母市场展望
    • 相关/附随市场展望
  • 市场动态
    • 市场驱动因素分析
    • 市场限制因素分析
  • 罕见疾病基因检测市场分析工具
    • 产业分析-波特五力分析
    • PESTEL分析
    • 定价分析

第四章 罕见疾病基因检测市场:疾病预测与趋势分析

  • 全球罕见疾病基因检测市场:疾病仪表板
  • 全球罕见疾病基因检测市场:疾病趋势分析
  • 全球罕见疾病基因检测市场收益(依疾病类型)
  • 神经系统疾病
  • 免疫系统疾病
  • 血液系统疾病
  • 内分泌和代谢紊乱
  • 癌症
  • 肌肉骨骼疾病
  • 心血管疾病
  • 皮肤病
  • 其他罕见疾病

第五章 罕见疾病基因检测市场:依技术分類的估价与趋势分析

  • 全球罕见疾病基因检测市场:技术仪表板
  • 全球罕见疾病基因检测市场:技术趋势分析
  • 全球罕见疾病基因检测市场收益(按技术)
  • 次世代定序(NGS)
    • 全EXOME定序
    • 全基因组序列分析
  • 阵列技术
  • 桑格定序
  • 核型分析

第六章:罕见疾病基因检测市场:依专业领域估计与趋势分析

  • 全球罕见疾病基因检测市场:专业仪表板
  • 全球罕见疾病基因检测市场:各专业的差异分析
  • 全球罕见疾病基因检测市场按专业分類的收益
  • 分子遗传学检测
  • 染色体基因检测
  • 生化基因检测

7. 罕见疾病基因检测市场:按疾病、技术、专业、最终用途和调查方法的区域估计和趋势分析

  • 区域仪表板
  • 市场规模:预测趋势分析:2018 年至 2030 年
  • 北美洲
    • 美国
    • 加拿大
    • 墨西哥
  • 欧洲
    • 英国
    • 德国
    • 法国
    • 义大利
    • 西班牙
    • 挪威
    • 瑞典
    • 丹麦
  • 亚太地区
    • 日本
    • 中国
    • 印度
    • 澳洲
    • 韩国
    • 泰国
  • 拉丁美洲
    • 巴西
    • 阿根廷
  • 中东和非洲
    • 南非
    • 沙乌地阿拉伯
    • 阿拉伯聯合大公国
    • 科威特

第八章竞争格局

  • 主要市场参与企业的近期趋势和影响分析
  • 公司/竞争对手分类
  • 供应商格局
    • 主要经销商和通路合作伙伴名单
    • 主要客户
    • 主要企业市场占有率分析(2024年)
    • Quest Diagnostics Inc.
    • Centogene NV
    • Invitae Corp.
    • F. Hoffmann-La Roche Ltd
    • Arup Laboratories
    • Eurofins Scientific
    • Strand Life Sciences
    • Ambry Genetics
    • Perkin Elmer;Inc.
    • Realm IDX;Inc.
Product Code: GVR-4-68038-695-0

Rare Disease Genetic Testing Market Growth & Trends:

The global rare disease genetic testing market size is estimated to reach USD 2.52 billion by 2030, registering a CAGR of 15.3% from 2025 to 2030, according to a new report by Grand View Research, Inc. Effective regulatory plans to combat rare disease is one of the key drivers of the industry. Furthermore, the presence of a substantial number of registries that provide data and relevant information about related diseases has aided in revenue growth over the past years. Ongoing conferences to raise awareness about rare and ultra-rare conditions are anticipated to boost the adoption of diagnostic kits and services. For instance, Ergomed and PSR Orphan Experts, with their offices in the U.K., Germany, the Netherlands, Poland, and other countries, participate in various activities that are aimed at raising awareness in this area.

Moreover, the Canadian Organization for Rare Disorders (CORD) offers a strong platform to streamline health policy and a healthcare system that is dedicated to the management of patients with disorders. The agency works with clinicians, researchers, governments, and the diagnostic industry to advance R&D, diagnosis, treatment, and service availability for all rare conditions in the country. As per the National Institutes of Health (NIH), around 30 million Americans have been identified with one of 7,000+ known rare diseases. The number of patients undergoing disease testing is expected to increase in the coming years with growing awareness. The U.S. celebrates Rare Disease Day and promotes developments in this area by raising awareness.

In addition, the presence of the Rare Diseases Clinical Research Network (RDCRN), an NIH-funded research network of 23 active consortia or research groups that includes patients, researchers, and clinicians who are focused on the diagnosis & treatment of disorders is anticipated to positively impact the industry. Amidst the COVID-19 pandemic, patients with undiagnosed and rare diseases have been facing significant health challenges. According to a study published in January 2021 by a group of researchers from the U.S., there is an urgent need for the development of approaches that can reduce the serious challenges affecting Rare & Undiagnosed diseases (RUD) patients and families. The challenges include diagnostic and/or prognostic uncertainty coupled with medical complexity leading to poor health outcomes.

In response to the challenges created by the pandemic, patient support groups and professional societies are actively involved in addressing these challenges. For instance, the Rare Chromosome Support Group (Unique), the British Society for Genomic Medicine, and Genetic Alliance U.K. are actively involved in supporting, advocating, and providing information to patients with diseases. Several rare conditions remain unclassified. The charity SWAN U.K. estimated that around 6,000 children are born each year with genetic conditions in the U.K. As per the agency, the conditions are extremely rare and cannot be named. Thus, there is a lack of proper diagnosis and prognosis for evidence-based treatment. At present, around 50% of the children who undergo genetic testing in the U.K. would not receive a confirmed diagnosis.

Around 50% of the children with learning disabilities and approximately 60% of children with congenital conditions do not receive a definitive diagnosis to identify the cause of their disabilities. Furthermore, the lack of awareness among patients and families about diagnosis and genetic testing has further impeded the industry's growth. North America dominated the industry in 2021 due to the high incidence of rare diseases, a large number of registries, the presence of substantial numbers of R&D facilities in this area, and extensive investments in diagnosis. Asia Pacific is expected to register the fastest CAGR during the forecast years owing to the presence of a substantial number of organizations that are focusing on disease management.

Rare Disease Genetic Testing Market Report Highlights:

  • The immunological disorders segment held the largest share of 12.56% in 2024 and is expected to continue the trend during the forecast period.
  • The Next Generation Sequencing segment held the largest share of 35.50% in 2024. The wide availability and adoption of NGS-based gene panels for cancer, neurological diseases, cardiovascular diseases, pediatric conditions, psychiatric disorders, and other rare diseases have significantly driven the segment.
  • Based on specialty, the molecular genetic tests segment accounted for the largest revenue share of 41.12% in 2024 and expected to maintain its dominant position with fastest CAGR during the forecast period.
  • On the basis of end-use, the diagnostic laboratories segment is expected to register the fastest CAGR of 17.36% over the study period, driven by rising number of partnership and collaboration activities of diagnostic laboratories with genetic testing companies.

Table of Contents

Chapter 1. Methodology and Scope

  • 1.1. Market Segmentation & Scope
  • 1.2. Segment Definitions
    • 1.2.1. Disease
    • 1.2.2. Technology
    • 1.2.3. Specialty
    • 1.2.4. End use
    • 1.2.5. Regional scope
    • 1.2.6. Estimates and forecasts timeline
  • 1.3. Research Methodology
  • 1.4. Information Procurement
    • 1.4.1. Purchased database
    • 1.4.2. GVR's internal database
    • 1.4.3. Secondary sources
    • 1.4.4. Primary research
    • 1.4.5. Details of primary research
      • 1.4.5.1. Data for primary interviews in North America
      • 1.4.5.2. Data for primary interviews in Europe
      • 1.4.5.3. Data for primary interviews in Asia Pacific
      • 1.4.5.4. Data for primary interviews in Latin America
      • 1.4.5.5. Data for Primary interviews in MEA
  • 1.5. Information or Data Analysis
    • 1.5.1. Data analysis models
  • 1.6. Market Formulation & Validation
  • 1.7. Model Details
    • 1.7.1. Commodity flow analysis (Model 1)
    • 1.7.2. Approach 1: Commodity flow approach
    • 1.7.3. Volume price analysis (Model 2)
    • 1.7.4. Approach 2: Volume price analysis
  • 1.8. List of Secondary Sources
  • 1.9. List of Primary Sources
  • 1.10. Objectives

Chapter 2. Executive Summary

  • 2.1. Market Outlook
  • 2.2. Segment Outlook
    • 2.2.1. Disease
    • 2.2.2. Technology
    • 2.2.3. Specialty
    • 2.2.4. End use
    • 2.2.5. Regional outlook
  • 2.3. Competitive Insights

Chapter 3. Rare Disease Genetic Testing Market Variables; Trends & Scope

  • 3.1. Market Lineage Outlook
    • 3.1.1. Parent market outlook
    • 3.1.2. Related/ancillary market outlook
  • 3.2. Market Dynamics
    • 3.2.1. Market driver analysis
      • 3.2.1.1. Expanding patient registry for rare disease
      • 3.2.1.2. Declining sequencing cost
      • 3.2.1.3. Technological advancements in disease diagnosis
      • 3.2.1.4. Launch of programs & new product development in rare disease diagnosis
    • 3.2.2. Market restraint analysis
      • 3.2.2.1. Absence of effective diagnosis framework
      • 3.2.2.2. Technical challenges associated with genetic tests & data management
  • 3.3. Rare Disease Genetic Testing Market Analysis Tools
    • 3.3.1. Industry Analysis - Porter's
      • 3.3.1.1. Supplier power
      • 3.3.1.2. Buyer power
      • 3.3.1.3. Substitution threat
      • 3.3.1.4. Threat of new entrant
      • 3.3.1.5. Competitive rivalry
    • 3.3.2. PESTEL Analysis
      • 3.3.2.1. Political landscape
      • 3.3.2.2. Technological landscape
      • 3.3.2.3. Economic landscape
    • 3.3.3. Pricing Analysis

Chapter 4. Rare Disease Genetic Testing Market: Disease Estimates & Trend Analysis

  • 4.1. Global Rare Disease Genetic Testing Market: Disease Dashboard
  • 4.2. Global Rare Disease Genetic Testing Market: Disease Movement Analysis
  • 4.3. Global Rare Disease Genetic Testing Market by Disease; Revenue
  • 4.4. Neurological Disorders
    • 4.4.1. Neurological Disorders market estimates and forecasts 2018 to 2030 (USD Million)
  • 4.5. Immunological Disorders
    • 4.5.1. Immunological Disorders market estimates and forecasts 2018 to 2030 (USD Million)
  • 4.6. Hematology Diseases
    • 4.6.1. Hematology Diseases market estimates and forecasts 2018 to 2030 (USD Million)
  • 4.7. Endocrine & Metabolism Diseases
    • 4.7.1. Endocrine & Metabolism Diseases market estimates and forecasts 2018 to 2030 (USD Million)
  • 4.8. Cancer
    • 4.8.1. Cancer market estimates and forecasts 2018 to 2030 (USD Million)
  • 4.9. Musculoskeletal Disorders
    • 4.9.1. Musculoskeletal Disorders market estimates and forecasts 2018 to 2030 (USD Million)
  • 4.10. Cardiovascular Disorders
    • 4.10.1. Cardiovascular Disorders market estimates and forecasts 2018 to 2030 (USD Million)
  • 4.11. Dermatology Diseases
    • 4.11.1. Dermatology Diseases market estimates and forecasts 2018 to 2030 (USD Million)
  • 4.12. Other Rare Diseases
    • 4.12.1. Other Rare Diseases market estimates and forecasts 2018 to 2030 (USD Million)

Chapter 5. Rare Disease Genetic Testing Market: Technology Estimates & Trend Analysis

  • 5.1. Global Rare Disease Genetic Testing Market: Technology Dashboard
  • 5.2. Global Rare Disease Genetic Testing Market: Technology Movement Analysis
  • 5.3. Global Rare Disease Genetic Testing Market by Technology; Revenue
  • 5.4. Next-Generation Sequencing (NGS)
    • 5.4.1. Next-Generation Sequencing (NGS) market estimates and forecasts 2018 to 2030 (USD Million)
    • 5.4.2. Whole Exome Sequencing
      • 5.4.2.1. Whole Exome Sequencing market estimates and forecasts 2018 to 2030 (USD Million)
    • 5.4.3. Whole Genome Sequencing
      • 5.4.3.1. Whole Genome Sequencing market estimates and forecasts 2018 to 2030 (USD Million)
  • 5.5. Array Technology
    • 5.5.1. Array Technology market estimates and forecasts 2018 to 2030 (USD Million)
  • 5.6. FISH
    • 5.6.1. FISH market estimates and forecasts 2018 to 2030 (USD Million)
  • 5.7. Sanger Sequencing
    • 5.7.1. Sanger Sequencing market estimates and forecasts 2018 to 2030 (USD Million)
  • 5.8. Karyotyping
    • 5.8.1. Karyotyping market estimates and forecasts 2018 to 2030 (USD Million)

Chapter 6. Rare Disease Genetic Testing Market: Specialty Estimates & Trend Analysis

  • 6.1. Global Rare Disease Genetic Testing Market: Specialty Dashboard
  • 6.2. Global Rare Disease Genetic Testing Market: Specialty Movement Analysis
  • 6.3. Global Rare Disease Genetic Testing Market by Specialty; Revenue
  • 6.4. Molecular Genetic Tests
    • 6.4.1. Molecular Genetic Tests market estimates and forecasts 2018 to 2030 (USD Million)
  • 6.5. Chromosomal Genetic Tests
    • 6.5.1. Chromosomal Genetic Tests market estimates and forecasts 2018 to 2030 (USD Million)
  • 6.6. Biochemical Genetic Tests
    • 6.6.1. Biochemical Genetic Tests market estimates and forecasts 2018 to 2030 (USD Million)

Chapter 7. Rare Disease Genetic Testing Market: Regional Estimates & Trend Analysis by Disease; Technology; Specialty; End use and Methodology

  • 7.1. Regional Dashboard
  • 7.2. Market Size; & Forecasts Trend Analysis; 2018 to 2030:
  • 7.3. North America
    • 7.3.1. U.S.
      • 7.3.1.1. Key country dynamics
      • 7.3.1.2. Regulatory framework/ reimbursement structure
      • 7.3.1.3. Competitive scenario
      • 7.3.1.4. U.S. market estimates and forecasts 2018 to 2030 (USD Million)
    • 7.3.2. Canada
      • 7.3.2.1. Key country dynamics
      • 7.3.2.2. Regulatory framework/ reimbursement structure
      • 7.3.2.3. Competitive scenario
      • 7.3.2.4. Canada market estimates and forecasts 2018 to 2030 (USD Million)
    • 7.3.3. Mexico
      • 7.3.3.1. Key country dynamics
      • 7.3.3.2. Regulatory framework/ reimbursement structure
      • 7.3.3.3. Competitive scenario
      • 7.3.3.4. Mexico market estimates and forecasts 2018 to 2030 (USD Million)
  • 7.4. Europe
    • 7.4.1. UK
      • 7.4.1.1. Key country dynamics
      • 7.4.1.2. Regulatory framework/ reimbursement structure
      • 7.4.1.3. Competitive scenario
      • 7.4.1.4. UK market estimates and forecasts 2018 to 2030 (USD Million)
    • 7.4.2. Germany
      • 7.4.2.1. Key country dynamics
      • 7.4.2.2. Regulatory framework/ reimbursement structure
      • 7.4.2.3. Competitive scenario
      • 7.4.2.4. Germany market estimates and forecasts 2018 to 2030 (USD Million)
    • 7.4.3. France
      • 7.4.3.1. Key country dynamics
      • 7.4.3.2. Regulatory framework/ reimbursement structure
      • 7.4.3.3. Competitive scenario
      • 7.4.3.4. France market estimates and forecasts 2018 to 2030 (USD Million)
    • 7.4.4. Italy
      • 7.4.4.1. Key country dynamics
      • 7.4.4.2. Regulatory framework/ reimbursement structure
      • 7.4.4.3. Competitive scenario
      • 7.4.4.4. Italy market estimates and forecasts 2018 to 2030 (USD Million)
    • 7.4.5. Spain
      • 7.4.5.1. Key country dynamics
      • 7.4.5.2. Regulatory framework/ reimbursement structure
      • 7.4.5.3. Competitive scenario
      • 7.4.5.4. Spain market estimates and forecasts 2018 to 2030 (USD Million)
    • 7.4.6. Norway
      • 7.4.6.1. Key country dynamics
      • 7.4.6.2. Regulatory framework/ reimbursement structure
      • 7.4.6.3. Competitive scenario
      • 7.4.6.4. Norway market estimates and forecasts 2018 to 2030 (USD Million)
    • 7.4.7. Sweden
      • 7.4.7.1. Key country dynamics
      • 7.4.7.2. Regulatory framework/ reimbursement structure
      • 7.4.7.3. Competitive scenario
      • 7.4.7.4. Sweden market estimates and forecasts 2018 to 2030 (USD Million)
    • 7.4.8. Denmark
      • 7.4.8.1. Key country dynamics
      • 7.4.8.2. Regulatory framework/ reimbursement structure
      • 7.4.8.3. Competitive scenario
      • 7.4.8.4. Denmark market estimates and forecasts 2018 to 2030 (USD Million)
  • 7.5. Asia Pacific
    • 7.5.1. Japan
      • 7.5.1.1. Key country dynamics
      • 7.5.1.2. Regulatory framework/ reimbursement structure
      • 7.5.1.3. Competitive scenario
      • 7.5.1.4. Japan market estimates and forecasts 2018 to 2030 (USD Million)
    • 7.5.2. China
      • 7.5.2.1. Key country dynamics
      • 7.5.2.2. Regulatory framework/ reimbursement structure
      • 7.5.2.3. Competitive scenario
      • 7.5.2.4. China market estimates and forecasts 2018 to 2030 (USD Million)
    • 7.5.3. India
      • 7.5.3.1. Key country dynamics
      • 7.5.3.2. Regulatory framework/ reimbursement structure
      • 7.5.3.3. Competitive scenario
      • 7.5.3.4. India market estimates and forecasts 2018 to 2030 (USD Million)
    • 7.5.4. Australia
      • 7.5.4.1. Key country dynamics
      • 7.5.4.2. Regulatory framework/ reimbursement structure
      • 7.5.4.3. Competitive scenario
      • 7.5.4.4. Australia market estimates and forecasts 2018 to 2030 (USD Million)
    • 7.5.5. South Korea
      • 7.5.5.1. Key country dynamics
      • 7.5.5.2. Regulatory framework/ reimbursement structure
      • 7.5.5.3. Competitive scenario
      • 7.5.5.4. South Korea market estimates and forecasts 2018 to 2030 (USD Million)
    • 7.5.6. Thailand
      • 7.5.6.1. Key country dynamics
      • 7.5.6.2. Regulatory framework/ reimbursement structure
      • 7.5.6.3. Competitive scenario
      • 7.5.6.4. Thailand market estimates and forecasts 2018 to 2030 (USD Million)
  • 7.6. Latin America
    • 7.6.1. Brazil
      • 7.6.1.1. Key country dynamics
      • 7.6.1.2. Regulatory framework/ reimbursement structure
      • 7.6.1.3. Competitive scenario
      • 7.6.1.4. Brazil market estimates and forecasts 2018 to 2030 (USD Million)
    • 7.6.2. Argentina
      • 7.6.2.1. Key country dynamics
      • 7.6.2.2. Regulatory framework/ reimbursement structure
      • 7.6.2.3. Competitive scenario
      • 7.6.2.4. Argentina market estimates and forecasts 2018 to 2030 (USD Million)
  • 7.7. MEA
    • 7.7.1. South Africa
      • 7.7.1.1. Key country dynamics
      • 7.7.1.2. Regulatory framework/ reimbursement structure
      • 7.7.1.3. Competitive scenario
      • 7.7.1.4. South Africa market estimates and forecasts 2018 to 2030 (USD Million)
    • 7.7.2. Saudi Arabia
      • 7.7.2.1. Key country dynamics
      • 7.7.2.2. Regulatory framework/ reimbursement structure
      • 7.7.2.3. Competitive scenario
      • 7.7.2.4. Saudi Arabia market estimates and forecasts 2018 to 2030 (USD Million)
    • 7.7.3. UAE
      • 7.7.3.1. Key country dynamics
      • 7.7.3.2. Regulatory framework/ reimbursement structure
      • 7.7.3.3. Competitive scenario
      • 7.7.3.4. UAE market estimates and forecasts 2018 to 2030 (USD Million)
    • 7.7.4. Kuwait
      • 7.7.4.1. Key country dynamics
      • 7.7.4.2. Regulatory framework/ reimbursement structure
      • 7.7.4.3. Competitive scenario
      • 7.7.4.4. Kuwait market estimates and forecasts 2018 to 2030 (USD Million)

Chapter 8. Competitive Landscape

  • 8.1. Recent Developments & Impact Analysis; By Key Market Participants
  • 8.2. Company/Competition Categorization
  • 8.3. Vendor Landscape
    • 8.3.1. List of key distributors and channel partners
    • 8.3.2. Key customers
    • 8.3.3. Key company market share analysis; 2024
    • 8.3.4. Quest Diagnostics Inc.
      • 8.3.4.1. Company overview
      • 8.3.4.2. Financial performance
      • 8.3.4.3. Product benchmarking
      • 8.3.4.4. Strategic initiatives
    • 8.3.5. Centogene N.V.
      • 8.3.5.1. Company overview
      • 8.3.5.2. Financial performance
      • 8.3.5.3. Product benchmarking
      • 8.3.5.4. Strategic initiatives
    • 8.3.6. Invitae Corp.
      • 8.3.6.1. Company overview
      • 8.3.6.2. Financial performance
      • 8.3.6.3. Product benchmarking
      • 8.3.6.4. Strategic initiatives
    • 8.3.7. F. Hoffmann-La Roche Ltd
      • 8.3.7.1. Company overview
      • 8.3.7.2. Financial performance
      • 8.3.7.3. Product benchmarking
      • 8.3.7.4. Strategic initiatives
    • 8.3.8. Arup Laboratories
      • 8.3.8.1. Company overview
      • 8.3.8.2. Financial performance
      • 8.3.8.3. Product benchmarking
      • 8.3.8.4. Strategic initiatives
    • 8.3.9. Eurofins Scientific
      • 8.3.9.1. Company overview
      • 8.3.9.2. Financial performance
      • 8.3.9.3. Product benchmarking
      • 8.3.9.4. Strategic initiatives
    • 8.3.10. Strand Life Sciences
      • 8.3.10.1. Company overview
      • 8.3.10.2. Financial performance
      • 8.3.10.3. Product benchmarking
      • 8.3.10.4. Strategic initiatives
    • 8.3.11. Ambry Genetics
      • 8.3.11.1. Company overview
      • 8.3.11.2. Financial performance
      • 8.3.11.3. Product benchmarking
      • 8.3.11.4. Strategic initiatives
    • 8.3.12. Perkin Elmer; Inc.
      • 8.3.12.1. Company overview
      • 8.3.12.2. Financial performance
      • 8.3.12.3. Product benchmarking
      • 8.3.12.4. Strategic initiatives
    • 8.3.13. Realm IDX; Inc.
      • 8.3.13.1. Company overview
      • 8.3.13.2. Financial performance
      • 8.3.13.3. Product benchmarking
      • 8.3.13.4. Strategic initiatives

List of Tables

  • Table 1 List of abbreviations
  • Table 2 North America Rare diseases genetic testing market; by region; 2018 - 2030 (USD Million)
  • Table 3 North America Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
  • Table 4 North America Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
  • Table 5 North America Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
  • Table 6 North America Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
  • Table 7 U.S Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
  • Table 8 U.S Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
  • Table 9 U.S Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
  • Table 10 U.S Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
  • Table 11 Canada Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
  • Table 12 Canada Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
  • Table 13 Canada Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
  • Table 14 Canada Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
  • Table 15 Mexico Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
  • Table 16 Mexico Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
  • Table 17 Mexico Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
  • Table 18 Mexico Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
  • Table 19 Europe Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
  • Table 20 Europe Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
  • Table 21 Europe Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
  • Table 22 Europe Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
  • Table 23 UK Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
  • Table 24 UK Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
  • Table 25 UK Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
  • Table 26 UK Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
  • Table 27 Germany Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
  • Table 28 Germany Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
  • Table 29 Germany Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
  • Table 30 Germany Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
  • Table 31 France Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
  • Table 32 France Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
  • Table 33 France Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
  • Table 34 France Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
  • Table 35 Italy Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
  • Table 36 Italy Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
  • Table 37 Italy Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
  • Table 38 Italy Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
  • Table 39 Spain Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
  • Table 40 Spain Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
  • Table 41 Spain Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
  • Table 42 Spain Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
  • Table 43 Denmark Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
  • Table 44 Denmark Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
  • Table 45 Denmark Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
  • Table 46 Denmark Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
  • Table 47 Sweden Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
  • Table 48 Sweden Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
  • Table 49 Sweden Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
  • Table 50 Sweden Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
  • Table 51 Norway Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
  • Table 52 Norway Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
  • Table 53 Norway Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
  • Table 54 Norway Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
  • Table 55 Asia Pacific Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
  • Table 56 Asia Pacific Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
  • Table 57 Asia Pacific Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
  • Table 58 Asia Pacific Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
  • Table 59 Japan Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
  • Table 60 Japan Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
  • Table 61 Japan Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
  • Table 62 Japan Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
  • Table 63 China Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
  • Table 64 China Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
  • Table 65 China Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
  • Table 66 China Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
  • Table 67 India Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
  • Table 68 India Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
  • Table 69 India Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
  • Table 70 India Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
  • Table 71 Australia Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
  • Table 72 Australia Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
  • Table 73 Australia Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
  • Table 74 Australia Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
  • Table 75 South Korea Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
  • Table 76 South Korea Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
  • Table 77 South Korea Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
  • Table 78 South Korea Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
  • Table 79 Thailand Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
  • Table 80 Thailand Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
  • Table 81 Thailand Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
  • Table 82 Thailand Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
  • Table 83 Latin America Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
  • Table 84 Latin America Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
  • Table 85 Latin America Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
  • Table 86 Latin America Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
  • Table 87 Brazil Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
  • Table 88 Brazil Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
  • Table 89 Brazil Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
  • Table 90 Brazil Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
  • Table 91 Argentina Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
  • Table 92 Argentina Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
  • Table 93 Argentina Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
  • Table 94 Argentina Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
  • Table 95 MEA Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
  • Table 96 MEA Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
  • Table 97 MEA Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
  • Table 98 MEA Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
  • Table 99 South Africa Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
  • Table 100 South Africa Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
  • Table 101 South Africa Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
  • Table 102 South Africa Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
  • Table 103 Saudi Arabia Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
  • Table 104 Saudi Arabia Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
  • Table 105 Saudi Arabia Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
  • Table 106 Saudi Arabia Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
  • Table 107 UAE Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
  • Table 108 UAE Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
  • Table 109 UAE Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
  • Table 110 UAE Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
  • Table 111 Kuwait Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
  • Table 112 Kuwait Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
  • Table 113 Kuwait Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
  • Table 114 Kuwait Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)

List of Figures

  • Fig. 1 Market research process
  • Fig. 2 Data triangulation techniques
  • Fig. 3 Primary research pattern
  • Fig. 4 Primary interviews in North America
  • Fig. 5 Primary interviews in Europe
  • Fig. 6 Primary interviews in APAC
  • Fig. 7 Primary interviews in Latin America
  • Fig. 8 Primary interviews in MEA
  • Fig. 9 Market research approaches
  • Fig. 10 Value-chain-based sizing & forecasting
  • Fig. 11 QFD modeling for market share assessment
  • Fig. 12 Market formulation & validation
  • Fig. 13 Rare Disease Genetic Testing market: market outlook
  • Fig. 14 Rare Disease Genetic Testing competitive insights
  • Fig. 15 Parent market outlook
  • Fig. 16 Related/ancillary market outlook
  • Fig. 17 Rare Disease Genetic Testing market driver impact
  • Fig. 18 Rare Disease Genetic Testing market restraint impact
  • Fig. 19 Rare Disease Genetic Testing market: Disease movement analysis
  • Fig. 20 Rare Disease Genetic Testing market: Disease outlook and key takeaways
  • Fig. 21 Neurological Disorders market estimates and forecast; 2018 - 2030 (USD Million)
  • Fig. 22 Hematology Diseases market estimates and forecast; 2018 - 2030 (USD Million)
  • Fig. 23 Endocrine & Metabolism Diseases market estimates and forecast; 2018 - 2030 (USD Million)
  • Fig. 24 Cancer market estimates and forecast; 2018 - 2030 (USD Million)
  • Fig. 25 Musculoskeletal Disorders market estimates and forecast; 2018 - 2030 (USD Million)
  • Fig. 26 Cardiovascular Disorders market estimates and forecast; 2018 - 2030 (USD Million)
  • Fig. 27 Dermatology Diseases market estimates and forecast; 2018 - 2030 (USD Million)
  • Fig. 28 Other Rare Diseases market estimates and forecast; 2018 - 2030 (USD Million)
  • Fig. 29 Rare Disease Genetic Testing market: Technology movement analysis
  • Fig. 30 Rare Disease Genetic Testing market: Technology outlook and key takeaways
  • Fig. 31 Next-Generation Sequencing (NGS) market estimates and forecast; 2018 - 2030 (USD Million)
  • Fig. 32 Whole Exome Sequencing market estimates and forecast; 2018 - 2030 (USD Million)
  • Fig. 33 Whole Genome Sequencing market estimates and forecast; 2018 - 2030 (USD Million)
  • Fig. 34 Rare Disease Genetic Testing market: Specialty movement analysis
  • Fig. 35 Rare Disease Genetic Testing market: Specialty outlook and key takeaways
  • Fig. 36 Molecular Genetic Tests market estimates and forecast; 2018 - 2030 (USD Million)
  • Fig. 37 Chromosomal Genetic Tests market estimates and forecast; 2018 - 2030 (USD Million)
  • Fig. 38 Biochemical Genetic Tests market estimates and forecast; 2018 - 2030 (USD Million)
  • Fig. 39 Global Rare Disease Genetic Testing market: Regional movement analysis
  • Fig. 40 Global Rare Disease Genetic Testing market: Regional outlook and key takeaways
  • Fig. 41 Global Rare Disease Genetic Testing market share and leading players
  • Fig. 42 North America; by country
  • Fig. 43 North America market estimates and forecasts; 2018 - 2030 (USD Million)
  • Fig. 44 U.S. key country dynamics
  • Fig. 45 U.S. market estimates and forecasts; 2018 - 2030 (USD Million)
  • Fig. 46 Canada key country dynamics
  • Fig. 47 Canada market estimates and forecasts; 2018 - 2030 (USD Million)
  • Fig. 48 Mexico key country dynamics
  • Fig. 49 Mexico market estimates and forecasts; 2018 - 2030 (USD Million)
  • Fig. 50 Europe market estimates and forecasts; 2018 - 2030 (USD Million)
  • Fig. 51 UK key country dynamics
  • Fig. 52 UK market estimates and forecasts; 2018 - 2030 (USD Million)
  • Fig. 53 Germany key country dynamics
  • Fig. 54 Germany market estimates and forecasts; 2018 - 2030 (USD Million)
  • Fig. 55 France key country dynamics
  • Fig. 56 France market estimates and forecasts; 2018 - 2030 (USD Million)
  • Fig. 57 Italy key country dynamics
  • Fig. 58 Italy market estimates and forecasts; 2018 - 2030 (USD Million)
  • Fig. 59 Spain key country dynamics
  • Fig. 60 Spain market estimates and forecasts; 2018 - 2030 (USD Million)
  • Fig. 61 Denmark key country dynamics
  • Fig. 62 Denmark market estimates and forecasts; 2018 - 2030 (USD Million)
  • Fig. 63 Sweden key country dynamics
  • Fig. 64 Sweden market estimates and forecasts; 2018 - 2030 (USD Million)
  • Fig. 65 Norway key country dynamics
  • Fig. 66 Norway market estimates and forecasts; 2018 - 2030 (USD Million)
  • Fig. 67 Asia Pacific market estimates and forecasts; 2018 - 2030 (USD Million)
  • Fig. 68 China key country dynamics
  • Fig. 69 China market estimates and forecasts; 2018 - 2030 (USD Million)
  • Fig. 70 Japan key country dynamics
  • Fig. 71 Japan market estimates and forecasts; 2018 - 2030 (USD Million)
  • Fig. 72 India key country dynamics
  • Fig. 73 India market estimates and forecasts; 2018 - 2030 (USD Million)
  • Fig. 74 Thailand key country dynamics
  • Fig. 75 Thailand market estimates and forecasts; 2018 - 2030 (USD Million)
  • Fig. 76 South Korea key country dynamics
  • Fig. 77 South Korea market estimates and forecasts; 2018 - 2030 (USD Million)
  • Fig. 78 Australia key country dynamics
  • Fig. 79 Australia market estimates and forecasts; 2018 - 2030 (USD Million)
  • Fig. 80 Latin America market estimates and forecasts; 2018 - 2030 (USD Million)
  • Fig. 81 Brazil key country dynamics
  • Fig. 82 Brazil market estimates and forecasts; 2018 - 2030 (USD Million)
  • Fig. 83 Argentina key country dynamics
  • Fig. 84 Argentina market estimates and forecasts; 2018 - 2030 (USD Million)
  • Fig. 85 Middle East and Africa market estimates and forecasts; 2018 - 2030 (USD Million)
  • Fig. 86 South Africa key country dynamics
  • Fig. 87 South Africa market estimates and forecasts; 2018 - 2030 (USD Million)
  • Fig. 88 Saudi Arabia key country dynamics
  • Fig. 89 Saudi Arabia market estimates and forecasts; 2018 - 2030 (USD Million)
  • Fig. 90 UAE key country dynamics
  • Fig. 91 UAE market estimates and forecasts; 2018 - 2030 (USD Million)
  • Fig. 92 Kuwait key country dynamics
  • Fig. 93 Kuwait market estimates and forecasts; 2018 - 2030 (USD Million)
  • Fig. 94 Market share of key market players - Rare Disease Genetic Testing market