罕见疾病基因检测市场－全球产业规模、份额、趋势、机会及预测（按疾病类型、专业、技术、最终用户、地区和竞争细分，2020-2030 年）

2024 年全球罕见疾病基因检测市值为 8.8123 亿美元，预计到 2030 年将达到 14.113 亿美元，复合年增长率为 8.14%。该市场专注于分析导致罕见疾病的基因突变的诊断解决方案，这些疾病影响一小部分人口，但通常具有遗传起源。基因检测在识别这些突变、协助早期诊断和个人化治疗策略方面发挥着至关重要的作用。新一代定序（NGS）、全外显子组、基因组定序等技术显着提高了检测的准确性和效率。这些进步减少了患者的诊断过程，有助于找出先前未被发现的症状的根本原因。罕见疾病基因检测涵盖多种类型——从分子到染色体和基因表现测试——并支持医生更有效地管理复杂疾病。

关键市场驱动因素

罕见病患疾病率不断上升

主要市场挑战

测试中的诊断复杂性

主要市场趋势

直接面向消费者（DTC）测试的成长

目录

第 1 章：产品概述

第二章：研究方法

第三章：执行摘要

第四章：顾客之声

第五章：全球罕见疾病基因检测市场展望

• 市场规模和预测
  • 按价值
• 市场占有率和预测
  • 依疾病类型（神经系统疾病、免疫系统疾病、血液系统疾病、内分泌及代谢疾病、癌症、肌肉骨骼疾病、心血管疾病 (CVD)、皮肤病、其他）
  • 按专业（分子遗传学检测、染色体遗传学检测、生化遗传学检测）
  • 依技术（次世代定序 (NGS)、全外显子定序、全基因组定序、阵列技术、基于 PCR 的检测、FISH、桑格定序、核型分析）
  • 按最终用户（研究实验室和 CRO、医院和诊所、诊断实验室）
  • 按公司分类（2024）
  • 按地区
• 市场地图

第六章：北美罕见疾病基因检测市场展望

• 市场规模和预测
• 市场占有率和预测
• 北美：国家分析
  • 美国
  • 墨西哥
  • 加拿大

第七章：欧洲罕见疾病基因检测市场展望

• 市场规模和预测
• 市场占有率和预测
• 欧洲：国家分析
  • 法国
  • 德国
  • 英国
  • 义大利
  • 西班牙

第八章：亚太罕见疾病基因检测市场展望

• 市场规模和预测
• 市场占有率和预测
• 亚太地区：国家分析
  • 中国
  • 印度
  • 韩国
  • 日本
  • 澳洲

第九章：南美洲罕见疾病基因检测市场展望

• 市场规模和预测
• 市场占有率和预测
• 南美洲：国家分析
  • 巴西
  • 阿根廷
  • 哥伦比亚

第十章：中东和非洲罕见疾病基因检测市场展望

• 市场规模和预测
• 市场占有率和预测
• MEA：国家分析
  • 南非
  • 沙乌地阿拉伯
  • 阿联酋

第 11 章：市场动态

• 驱动程式
• 挑战

第 12 章：市场趋势与发展

• 合併与收购（如有）
• 产品发布（如有）
• 最新动态

第 13 章：波特五力分析

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

第 14 章：竞争格局

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

第 15 章：策略建议

第16章调查会社について・免责事项

The Global Rare Disease Genetic Testing Market was valued at USD 881.23 million in 2024 and is projected to reach USD 1411.30 million by 2030, growing at a CAGR of 8.14%. This market focuses on diagnostic solutions that analyze genetic mutations responsible for rare conditions-diseases that affect a small percentage of the population but often have a genetic origin. Genetic testing plays a crucial role in identifying these mutations, aiding early diagnosis and personalized treatment strategies. Techniques such as next-generation sequencing (NGS), whole exome, and genome sequencing have significantly enhanced the accuracy and efficiency of testing. These advancements reduce diagnostic odysseys for patients, helping identify the root causes of symptoms that previously remained undetected. Rare disease genetic testing spans multiple types-from molecular to chromosomal and gene expression tests-and supports physicians in managing complex conditions more effectively.

Key Market Drivers

Increasing Prevalence Of Rare Disease

The growing global incidence of rare diseases is a major factor fueling the demand for genetic testing. It is estimated that 3.5% to 5.9% of the world's population-equivalent to approximately 260 to 440 million individuals-suffers from one of over 6,000 identified rare diseases. This prevalence, documented by sources like EURORDIS and Orphanet, has led to rising demand for accurate and early diagnostic tools. As awareness of rare diseases grows among healthcare professionals and the public, so does the recognition of genetic testing as a critical diagnostic aid. Genetic testing enables healthcare providers to pinpoint specific mutations, guiding more effective and personalized treatments. The adoption of precision medicine approaches-customizing care based on a patient's genetic profile-is also propelling the market. These developments are driving increased utilization of rare disease genetic testing as both a clinical and research tool.

Key Market Challenges

Diagnostic Complexity in Testing

Rare diseases are inherently complex, with diverse symptoms that can differ significantly across individuals, complicating the diagnostic process. This symptom variability often leads to delayed or inaccurate diagnoses, as many healthcare providers may lack familiarity with specific rare conditions. The absence of standardized diagnostic pathways further hampers early identification. Genetic mutations linked to rare diseases may involve multiple genes or variants, necessitating sophisticated testing methods and detailed bioinformatics analysis. Additionally, many clinicians may underutilize genetic testing due to limited exposure or lack of training in recognizing rare disease patterns. The combination of clinical heterogeneity and the need for high-end diagnostic capabilities poses ongoing challenges for the widespread adoption of genetic testing in rare disease management.

Key Market Trends

Growth of Direct-to-Consumer (DTC) Testing

Direct-to-Consumer (DTC) testing is gradually influencing the rare disease genetic testing market, although at a slower pace compared to other genetic testing sectors. DTC platforms provide consumers with easier access to their genetic data, indirectly enhancing awareness about genetic conditions, including rare diseases. While these tests may not be diagnostic, they can flag potential genetic markers related to specific disorders, prompting individuals to pursue further clinical evaluations. Some DTC companies also allow users to contribute genetic data to research databases, which can facilitate breakthroughs in rare disease research. Despite these benefits, DTC testing raises ethical and regulatory concerns regarding result interpretation and the risk of misinformation. Regulatory frameworks vary across regions, with some countries enforcing strict oversight to ensure transparency and reliability. Nonetheless, DTC testing is expanding awareness and engagement in genetics, indirectly supporting the rare disease genetic testing market's long-term growth.

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:

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

Rare Disease Genetic Testing Market, By Speciality:

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

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

Rare Disease Genetic Testing Market, By End User:

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

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 Testing Market report 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

• 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, and Trends

4. Voice of Customer

5. Global Rare Disease Genetic Testing Market Outlook

• 5.1. Market Size & Forecast
  • 5.1.1. By Value
• 5.2. Market Share & Forecast
  • 5.2.1. By Disease Type (Neurological Disease, Immunological Disorders, Hematology Diseases, Endocrine & Metabolism Diseases, Cancer, Musculoskeletal Disorders, Cardiovascular Disorders (CVDs), Dermatology Disease, Others)
  • 5.2.2. By Speciality (Molecular Genetic Tests, Chromosomal Genetic Tests, Biochemical Genetic Tests)
  • 5.2.3. By Technology (Next-Generation Sequencing (NGS), Whole Exome Sequencing, Whole Genome Sequencing, Array Technology, PCR-based Testing, FISH, Sanger Sequencing, Karyotyping)
  • 5.2.4. By End User (Research Laboratories & CROs, Hospitals & Clinics, Diagnostic Laboratories)
  • 5.2.5. By Company (2024)
  • 5.2.6. By Region
• 5.3. Market Map

6. North America Rare Disease Genetic Testing Market Outlook

• 6.1. Market Size & Forecast
  • 6.1.1. By Value
• 6.2. Market Share & Forecast
  • 6.2.1. By Disease Type
  • 6.2.2. By Speciality
  • 6.2.3. By Technology
  • 6.2.4. By End User
  • 6.2.5. By Country
• 6.3. North America: Country Analysis
  • 6.3.1. United States Rare Disease Genetic Testing Market Outlook
    • 6.3.1.1. Market Size & Forecast
      • 6.3.1.1.1. By Value
    • 6.3.1.2. Market Share & Forecast
      • 6.3.1.2.1. By Disease Type
      • 6.3.1.2.2. By Speciality
      • 6.3.1.2.3. By Technology
      • 6.3.1.2.4. By End User
  • 6.3.2. Mexico Rare Disease Genetic Testing Market Outlook
    • 6.3.2.1. Market Size & Forecast
      • 6.3.2.1.1. By Value
    • 6.3.2.2. Market Share & Forecast
      • 6.3.2.2.1. By Disease Type
      • 6.3.2.2.2. By Speciality
      • 6.3.2.2.3. By Technology
      • 6.3.2.2.4. By End User
  • 6.3.3. Canada Rare Disease Genetic Testing Market Outlook
    • 6.3.3.1. Market Size & Forecast
      • 6.3.3.1.1. By Value
    • 6.3.3.2. Market Share & Forecast
      • 6.3.3.2.1. By Disease Type
      • 6.3.3.2.2. By Speciality
      • 6.3.3.2.3. By Technology
      • 6.3.3.2.4. By End User

7. Europe Rare Disease Genetic Testing Market Outlook

• 7.1. Market Size & Forecast
  • 7.1.1. By Value
• 7.2. Market Share & Forecast
  • 7.2.1. By Disease Type
  • 7.2.2. By Speciality
  • 7.2.3. By Technology
  • 7.2.4. By End User
  • 7.2.5. By Country
• 7.3. Europe: Country Analysis
  • 7.3.1. France Rare Disease Genetic Testing 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 Disease Type
      • 7.3.1.2.2. By Speciality
      • 7.3.1.2.3. By Technology
      • 7.3.1.2.4. By End User
  • 7.3.2. Germany Rare Disease Genetic Testing 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 Disease Type
      • 7.3.2.2.2. By Speciality
      • 7.3.2.2.3. By Technology
      • 7.3.2.2.4. By End User
  • 7.3.3. United Kingdom Rare Disease Genetic Testing 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 Disease Type
      • 7.3.3.2.2. By Speciality
      • 7.3.3.2.3. By Technology
      • 7.3.3.2.4. By End User
  • 7.3.4. Italy Rare Disease Genetic Testing Market Outlook
    • 7.3.4.1. Market Size & Forecast
      • 7.3.4.1.1. By Value
    • 7.3.4.2. Market Share & Forecast
      • 7.3.4.2.1. By Disease Type
      • 7.3.4.2.2. By Speciality
      • 7.3.4.2.3. By Technology
      • 7.3.4.2.4. By End User
  • 7.3.5. Spain Rare Disease Genetic Testing Market Outlook
    • 7.3.5.1. Market Size & Forecast
      • 7.3.5.1.1. By Value
    • 7.3.5.2. Market Share & Forecast
      • 7.3.5.2.1. By Disease Type
      • 7.3.5.2.2. By Speciality
      • 7.3.5.2.3. By Technology
      • 7.3.5.2.4. By End User

8. Asia-Pacific Rare Disease Genetic Testing Market Outlook

• 8.1. Market Size & Forecast
  • 8.1.1. By Value
• 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 User
  • 8.2.5. By Country
• 8.3. Asia-Pacific: Country Analysis
  • 8.3.1. China Rare Disease Genetic Testing 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 Disease Type
      • 8.3.1.2.2. By Speciality
      • 8.3.1.2.3. By Technology
      • 8.3.1.2.4. By End User
  • 8.3.2. India Rare Disease Genetic Testing 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 Disease Type
      • 8.3.2.2.2. By Speciality
      • 8.3.2.2.3. By Technology
      • 8.3.2.2.4. By End User
  • 8.3.3. South Korea Rare Disease Genetic Testing 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 Disease Type
      • 8.3.3.2.2. By Speciality
      • 8.3.3.2.3. By Technology
      • 8.3.3.2.4. By End User
  • 8.3.4. Japan Rare Disease Genetic Testing 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 Disease Type
      • 8.3.4.2.2. By Speciality
      • 8.3.4.2.3. By Technology
      • 8.3.4.2.4. By End User
  • 8.3.5. Australia Rare Disease Genetic Testing 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 Disease Type
      • 8.3.5.2.2. By Speciality
      • 8.3.5.2.3. By Technology
      • 8.3.5.2.4. By End User

9. South America Rare Disease Genetic Testing Market Outlook

• 9.1. Market Size & Forecast
  • 9.1.1. By Value
• 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 User
  • 9.2.5. By Country
• 9.3. South America: Country Analysis
  • 9.3.1. Brazil Rare Disease Genetic Testing 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 Disease Type
      • 9.3.1.2.2. By Speciality
      • 9.3.1.2.3. By Technology
      • 9.3.1.2.4. By End User
  • 9.3.2. Argentina Rare Disease Genetic Testing 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 Disease Type
      • 9.3.2.2.2. By Speciality
      • 9.3.2.2.3. By Technology
      • 9.3.2.2.4. By End User
  • 9.3.3. Colombia Rare Disease Genetic Testing 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 Disease Type
      • 9.3.3.2.2. By Speciality
      • 9.3.3.2.3. By Technology
      • 9.3.3.2.4. By End User

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

• 10.1. Market Size & Forecast
  • 10.1.1. By Value
• 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 User
  • 10.2.5. By Country
• 10.3. MEA: Country Analysis
  • 10.3.1. South Africa Rare Disease Genetic Testing 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 Disease Type
      • 10.3.1.2.2. By Speciality
      • 10.3.1.2.3. By Technology
      • 10.3.1.2.4. By End User
  • 10.3.2. Saudi Arabia Rare Disease Genetic Testing 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 Disease Type
      • 10.3.2.2.2. By Speciality
      • 10.3.2.2.3. By Technology
      • 10.3.2.2.4. By End User
  • 10.3.3. UAE Rare Disease Genetic Testing 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 Disease Type
      • 10.3.3.2.2. By Speciality
      • 10.3.3.2.3. By Technology
      • 10.3.3.2.4. By End User

11. Market Dynamics

• 11.1. Drivers
• 11.2. Challenges

12. Market Trends & Developments

• 12.1. Merger & Acquisition (If Any)
• 12.2. Product Launches (If Any)
• 12.3. Recent Developments

13. Porters Five Forces Analysis

• 13.1. Competition in the Industry
• 13.2. Potential of New Entrants
• 13.3. Power of Suppliers
• 13.4. Power of Customers
• 13.5. Threat of Substitute Products

14. Competitive Landscape

• 14.1. Centogene N.V.
  • 14.1.1. Business Overview
  • 14.1.2. Company Snapshot
  • 14.1.3. Products & Services
  • 14.1.4. Financials (As Reported)
  • 14.1.5. Recent Developments
  • 14.1.6. Key Personnel Details
  • 14.1.7. SWOT Analysis
• 14.2. Invitae Corp.
• 14.3. 3billion, Inc.
• 14.4. Arup Laboratories
• 14.5. Eurofins Scientific
• 14.6. Strand Life Sciences
• 14.7. Ambry Genetics
• 14.8. Perkin Elmer, Inc.
• 14.9. Realm IDX, Inc.
• 14.10. Macrogen, Inc.
• 14.11. Baylor Genetics

15. Strategic Recommendations

16. About Us & Disclaimer