희귀질환 유전자 검사 시장 : 시장 규모, 점유율, 동향 분석 보고서 - 질환별, 기술별, 전문별, 최종 용도별, 지역별, 부문 예측(2025-2030년)

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