罕見疾病基因檢測市場－全球產業規模、佔有率、趨勢、機會及預測（按疾病類型、專業、技術、最終用戶、地區和競爭細分，2020-2030 年）

2024 年全球罕見疾病基因檢測市值為 8.8123 億美元，預計到 2030 年將達到 14.113 億美元，複合年成長率為 8.14%。該市場專注於分析導致罕見疾病的基因突變的診斷解決方案，這些疾病影響一小部分人口，但通常具有遺傳起源。基因檢測在識別這些突變、協助早期診斷和個人化治療策略方面發揮著至關重要的作用。新一代定序（NGS）、全外顯子組、基因組定序等技術顯著提高了檢測的準確性和效率。這些進步減少了患者的診斷過程，有助於找出先前未被發現的症狀的根本原因。罕見疾病基因檢測涵蓋多種類型——從分子到染色體和基因表現測試——並支持醫生更有效地管理複雜疾病。

關鍵市場促進因素

罕見病患疾病率不斷上升

主要市場挑戰

測試中的診斷複雜性

主要市場趨勢

直接面對消費者（DTC）測試的成長

目錄

第 1 章：產品概述

第2章：研究方法

第3章：執行摘要

第4章：顧客之聲

第5章：全球罕見疾病基因檢測市場展望

• 市場規模和預測
  • 按價值
• 市場佔有率和預測
  • 依疾病類型（神經系統疾病、免疫系統疾病、血液系統疾病、內分泌及代謝疾病、癌症、肌肉骨骼疾病、心血管疾病 (CVD)、皮膚病、其他）
  • 按專業（分子遺傳學檢測、染色體遺傳學檢測、生化遺傳學檢測）
  • 依技術（次世代定序 (NGS)、全外顯子定序、全基因組定序、陣列技術、基於 PCR 的檢測、FISH、桑格定序、核型分析）
  • 按最終用戶（研究實驗室和 CRO、醫院和診所、診斷實驗室）
  • 按公司分類（2024）
  • 按地區
• 市場地圖

第6章：北美罕見疾病基因檢測市場展望

• 市場規模和預測
• 市場佔有率和預測
• 北美：國家分析
  • 美國
  • 墨西哥
  • 加拿大

第7章：歐洲罕見疾病基因檢測市場展望

• 市場規模和預測
• 市場佔有率和預測
• 歐洲：國家分析
  • 法國
  • 德國
  • 英國
  • 義大利
  • 西班牙

第8章：亞太罕見疾病基因檢測市場展望

• 市場規模和預測
• 市場佔有率和預測
• 亞太地區：國家分析
  • 中國
  • 印度
  • 韓國
  • 日本
  • 澳洲

第9章：南美洲罕見疾病基因檢測市場展望

• 市場規模和預測
• 市場佔有率和預測
• 南美洲：國家分析
  • 巴西
  • 阿根廷
  • 哥倫比亞

第10章：中東和非洲罕見疾病基因檢測市場展望

• 市場規模和預測
• 市場佔有率和預測
• MEA：國家分析
  • 南非
  • 沙烏地阿拉伯
  • 阿拉伯聯合大公國

第 11 章：市場動態

• 驅動程式
• 挑戰

第 12 章：市場趨勢與發展

• 合併與收購（如有）
• 產品發布（如有）
• 最新動態

第 13 章：波特五力分析

• 產業競爭
• 新進入者的潛力
• 供應商的力量
• 顧客的力量
• 替代產品的威脅

第 14 章：競爭格局

• 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：策略建議

第16章調查會社について,免責事項

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