희귀질환 유전자 검사 시장 : 세계 산업 규모, 점유율, 동향, 기회, 예측 - 질환 유형별, 전문 분야별, 기술별, 최종사용자별, 지역별, 경쟁별(2020-2030년)
Rare Disease Genetic Testing Market - Global Industry Size, Share, Trends, Opportunity, and Forecast, Segmented By Disease Type, By Speciality, By Technology, By End User, By Region and Competition, 2020-2030F
희귀질환 유전자 검사 세계 시장은 2024년 8억 8,123만 달러로 평가되며, 2030년까지 8.14%의 CAGR로 성장하여 14억 1,130만 달러에 달할 것으로 예상됩니다. 이 시장은 희귀질환을 유발하는 유전자 변이를 분석하는 진단 솔루션에 초점을 맞추고 있습니다. 유전자 검사는 이러한 돌연변이를 식별하고 조기 진단 및 맞춤 치료 전략을 지원하는 데 중요한 역할을 하고 있습니다. 차세대 염기서열 분석(NGS), 전체 엑솜, 유전체 시퀀싱과 같은 기술은 검사의 정확성과 효율성을 크게 향상시키고 있습니다. 이러한 발전은 환자 진단의 혼란을 줄이고 이전에 발견되지 않았던 증상의 근본 원인을 파악하는 데 도움을 주고 있습니다. 희귀질환 유전자 검사는 분자 검사부터 염색체 검사, 유전자 발현 검사에 이르기까지 다양한 종류가 있으며, 의사가 복잡한 증상을 보다 효과적으로 관리할 수 있도록 돕습니다.
| 시장 개요 |
| 예측 기간 |
2026-2030년 |
| 시장 규모 : 2024년 |
8억 8,123만 달러 |
| 시장 규모 : 2030년 |
14억 1,130만 달러 |
| CAGR : 2025-2030년 |
8.14% |
| 급성장 부문 |
연구기관 및 CRO |
| 최대 시장 |
북미 |
주요 시장 촉진요인
희귀질환 증가
주요 시장 과제
검사의 진단의 복잡성
주요 시장 동향
소비자 직접 검사(DTC)의 성장
목차
제1장 제품 개요
제2장 조사 방법
제3장 주요 요약
제4장 고객의 소리
제5장 세계의 희귀질환 유전자 검사 시장 전망
- 시장 규모 및 예측
- 시장 점유율과 예측
- 질환별(신경질환, 면역질환, 혈액질환, 내분비·대사질환, 암, 근골격계 질환, 심혈관질환(CVD), 피부질환, 기타)
- 전문 분야별(분자 유전학적 검사, 염색체 유전학적 검사, 생화학적 유전학적 검사)
- 기술별(차세대 시퀀싱(NGS), 전장 엑솜 시퀀싱, 전장 유전체 시퀀싱, 어레이 기술, PCR 기반 검사, FISH, 생어 시퀀싱, 핵형 해석)
- 최종사용자별(연구기관·CRO, 병원·진료소, 진단 연구소)
- 기업별(2024년)
- 지역별
- 시장 맵
제6장 북미의 희귀질환 유전자 검사 시장 전망
- 시장 규모 및 예측
- 시장 점유율과 예측
- 북미 : 국가별 분석
제7장 유럽의 희귀질환 유전자 검사 시장 전망
- 시장 규모 및 예측
- 시장 점유율과 예측
- 유럽 : 국가별 분석
제8장 아시아태평양의 희귀질환 유전자 검사 시장 전망
- 시장 규모 및 예측
- 시장 점유율과 예측
- 아시아태평양 : 국가별 분석
제9장 남미의 희귀질환 유전자 검사 시장 전망
- 시장 규모 및 예측
- 시장 점유율과 예측
- 남미 : 국가별 분석
제10장 중동 및 아프리카의 희귀질환 유전자 검사 시장 전망
- 시장 규모 및 예측
- 시장 점유율과 예측
- 중동 및 아프리카 : 국가별 분석
제11장 시장 역학
제12장 시장 동향과 발전
제13장 Porter's Five Forces 분석
- 업계내 경쟁
- 신규 참여의 가능성
- 공급업체의 능력
- 고객의 능력
- 대체품의 위협
제14장 경쟁 구도
- 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
제15장 전략적 제안
제16장 조사 회사 소개 및 면책사항
ksm
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.
| Market Overview |
|---|
| Forecast Period | 2026-2030 |
| Market Size 2024 | USD 881.23 Million |
| Market Size 2030 | USD 1411.30 Million |
| CAGR 2025-2030 | 8.14% |
| Fastest Growing Segment | Research Laboratories & CROs |
| Largest Market | North America |
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
- 5.2. 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
- 6.2. 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
- 6.3.1.2. 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
- 6.3.2.2. 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
- 6.3.3.2. 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
- 7.2. 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
- 7.3.1.2. 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
- 7.3.2.2. 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
- 7.3.3.2. 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
- 7.3.4.2. 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
- 7.3.5.2. 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
- 8.2. 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
- 8.3.1.2. 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
- 8.3.2.2. 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
- 8.3.3.2. 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
- 8.3.4.2. 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
- 8.3.5.2. 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
- 9.2. 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
- 9.3.1.2. 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
- 9.3.2.2. 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
- 9.3.3.2. 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
- 10.2. 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
- 10.3.1.2. 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
- 10.3.2.2. 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
- 10.3.3.2. 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
