希少疾患遺伝子検査市場 - 世界の産業規模、シェア、動向、機会、予測、疾患タイプ別、専門分野別、技術別、エンドユーザー別、地域別、競合別、2020年～2030年

希少疾患遺伝子検査の世界市場は、2024年に8億8,123万米ドルと評価され、2030年までには14億1,130万米ドルに達し、CAGR8.14％で成長すると予測されています。

この市場は、希少疾患の原因となる遺伝子変異を解析する診断ソリューションに焦点を当てています。遺伝子検査は、これらの変異を特定し、早期診断と個別化治療戦略を支援する上で重要な役割を果たしています。次世代シークエンシング（NGS）、全エクソーム、ゲノムシークエンシングなどの技術は、検査の精度と効率を著しく向上させています。これらの進歩は、患者の診断の迷いを減らし、以前は発見されなかった症状の根本原因を特定するのに役立っています。希少疾患遺伝子検査は、分子検査から染色体検査、遺伝子発現検査まで複数の種類にまたがり、医師が複雑な症状をより効果的に管理できるようサポートします。

主要な市場促進要因

希少疾患の増加

主要な市場課題

検査における診断の複雑さ

主要市場動向

消費者直接検査（DTC）の成長

目次

第1章 製品概要

第2章 調査手法

第3章 エグゼクティブサマリー

第4章 顧客の声

第5章 世界の希少疾患遺伝子検査市場展望

• 市場規模・予測
  • 金額別
• 市場シェア・予測
  • 疾患別（神経疾患、免疫疾患、血液疾患、内分泌・代謝疾患、がん、筋骨格系疾患、心血管疾患（CVD）、皮膚疾患、その他）
  • 専門分野別（分子遺伝学的検査、染色体遺伝学的検査、生化学的遺伝学的検査）
  • 技術別（次世代シーケンシング（NGS）、全エクソームシーケンシング、全ゲノムシーケンシング、アレイ技術、PCRベースの検査、FISH、サンガーシーケンシング、核型解析）
  • エンドユーザー別（研究機関・CRO、病院・診療所、診断研究所）
  • 企業別（2024年）
  • 地域別
• 市場マップ

第6章 北米の希少疾患遺伝子検査市場展望

• 市場規模・予測
• 市場シェア・予測
• 北米：国別分析
  • 米国
  • メキシコ
  • カナダ

第7章 欧州の希少疾患遺伝子検査市場展望

• 市場規模・予測
• 市場シェア・予測
• 欧州：国別分析
  • フランス
  • ドイツ
  • 英国
  • イタリア
  • スペイン

第8章 アジア太平洋の希少疾患遺伝子検査市場展望

• 市場規模・予測
• 市場シェア・予測
• アジア太平洋：国別分析
  • 中国
  • インド
  • 韓国
  • 日本
  • オーストラリア

第9章 南米の希少疾患遺伝子検査市場展望

• 市場規模・予測
• 市場シェア・予測
• 南米：国別分析
  • ブラジル
  • アルゼンチン
  • コロンビア

第10章 中東・アフリカの希少疾患遺伝子検査市場展望

• 市場規模・予測
• 市場シェア・予測
• 中東・アフリカ：国別分析
  • 南アフリカ
  • サウジアラビア
  • アラブ首長国連邦

第11章 市場力学

• 促進要因
• 課題

第12章 市場動向と発展

• 合併と買収
• 製品上市
• 最近の動向

第13章 ポーターのファイブフォース分析

• 業界内の競合
• 新規参入の可能性
• サプライヤーの力
• 顧客の力
• 代替品の脅威

第14章 競合情勢

• 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

第15章 戦略的提言

第16章 調査会社について・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