Global Rare Disease Genetic Testing Market Size & Outlook
Global rare disease genetic testing market, 2021-2033 (US$M)
Related Markets
Global rare disease genetic testing market highlights
- The global rare disease genetic testing market generated a revenue of USD 1,293.2 million in 2025 and is expected to reach USD 3,883.7 million by 2033.
- The market is expected to grow at a CAGR (2026 - 2033) of 14.9% by 2033.
- In terms of segment, neurological disorders accounted for a revenue of USD 422.0 million in 2025.
- Endocrine & Metabolism Diseases is the most lucrative disease type segment registering the fastest growth during the forecast period.
- In terms of region, North America was the largest revenue generating market in 2025.
- Country-wise, India is expected to register the highest CAGR from 2026 to 2033.
Global data book summary
| Market revenue in 2025 | USD 1,293.2 million |
| Market revenue in 2033 | USD 3,883.7 million |
| Growth rate | 14.9% (CAGR from 2026 to 2033) |
| Largest segment | Neurological disorders |
| Fastest growing segment | Endocrine & Metabolism Diseases |
| Historical data covered | 2021 - 2024 |
| Base year for estimation | 2025 |
| Forecast period covered | 2026 - 2033 |
| Quantitative units | Revenue in USD million |
| Market segmentation | Neurological Disorders, Immunological Disorders, Hematology Diseases, Endocrine & Metabolism Diseases, Cancer, Musculoskeletal Disorders, Cardiovascular Disorders, Dermatology Disease |
Other key industry trends
- In terms of revenue, the North America accounted for 46.7% of the global rare disease genetic testing market in 2025.
- By country, the U.S. is projected to lead the global market in terms of revenue in 2033.
- By country, India is the fastest growing regional market and is projected to reach USD 100.6 million by 2033.
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Rare Disease Genetic Testing Market Scope
Rare Disease Genetic Testing Market Companies
| Name | Profile | # Employees | HQ | Website |
|---|---|---|---|---|
| Artemis DNA | View profile | 51-100 | Irvine, California, United States, North America | https://www.artemisdna.com |
| CooperSurgical | View profile | 501-1000 | Trumbull, Connecticut, United States, North America | http://www.coopersurgical.com |
| Biora Therapeutics | View profile | 51-100 | Carlsbad, California, United States, North America | https://www.bioratherapeutics.com/ |
| PreventionGenetics | View profile | 101-250 | Marshfield, Massachusetts, United States, North America | http://preventiongenetics.com |
| Health Network Laboratories | View profile | 501-1000 | Carlisle, Pennsylvania, United States, North America | http://www.healthnetworklabs.com |
| Baylor Genetics | View profile | 251-500 | Houston, Texas, United States, North America | https://www.baylorgenetics.com/ |
| REALM IDx, Inc. | View profile | - | Aliso Viejo, California, United States, North America | https://realmidx.com/ |
| Ambry Genetics | View profile | 251-500 | Aliso Viejo, California, United States, North America | http://www.ambrygen.com/ |
| Strand Life Sciences | View profile | 501-1000 | Bangalore, Karnataka, India, Asia | http://strandls.com/ |
| 3billion | View profile | 11-50 | Seoul, Seoul-t'ukpyolsi, South Korea, Asia | https://3billion.io/ |
| ARUP Laboratories | View profile | 1001-5000 | Salt Lake City, Utah, United States, North America | http://www.aruplab.com |
| OPKO Health Inc | View profile | 3930 | 4400 Biscayne Boulevard, Miami, FL, United States, 33137 | https://www.opko.com |
| Fulgent Genetics Inc | View profile | 1012 | 4399 Santa Anita Avenue, El Monte, CA, United States, 91731 | https://www.fulgentgenetics.com |
| Macrogenics Inc | View profile | 339 | 9704 Medical Center Drive, Rockville, MD, United States, 20850 | https://www.macrogenics.com |
| Centogene NV Ordinary Shares | View profile | 493 | Am Strande 7, Rostock, MV, Germany, 18055 | https://www.centogene.com |
| PerkinElmer | View profile | 10001+ | Waltham, Massachusetts, United States, North America | http://www.perkinelmer.com |
| Labcorp Holdings Inc | View profile | 67000 | 358 South Main Street, Burlington, NC, United States, 27215 | https://www.labcorp.com |
| Invitae Corp | View profile | 1700 | 1400 16th Street, San Francisco, CA, United States, 94103 | https://www.invitae.com |
| Myriad Genetics Inc | View profile | 2700 | 320 Wakara Way, Salt Lake City, UT, United States, 84108 | https://www.myriad.com |
| Eurofins Scientific SE | View profile | 61798 | 23 Val Fleuri, Luxembourg, Luxembourg, L-1526 | https://www.eurofins.com |
| Quest Diagnostics Inc | View profile | 48000 | 500 Plaza Drive, Secaucus, NJ, United States, 07094 | https://www.questdiagnostics.com |
Global rare disease genetic testing market outlook
The databook is designed to serve as a comprehensive guide to navigating this sector. The databook focuses on market statistics denoted in the form of revenue and y-o-y growth and CAGR across the globe and regions. A detailed competitive and opportunity analyses related to rare disease genetic testing market will help companies and investors design strategic landscapes.
Neurological disorders was the largest segment with a revenue share of 32.63% in 2025. Horizon Databook has segmented the Global rare disease genetic testing market based on neurological disorders, immunological disorders, hematology diseases, endocrine & metabolism diseases, cancer, musculoskeletal disorders, cardiovascular disorders, dermatology disease covering the revenue growth of each sub-segment from 2021 to 2033.
- Global Rare Disease Genetic Testing Disease Type Outlook (Revenue, USD Million, 2021-2033)
- Cancer
- Dermatology Disease
- Others
- Neurological Disorders
- Immunological Disorders
- Endocrine & Metabolism Diseases
- Hematology Diseases
- Musculoskeletal Disorders
- Cardiovascular Disorders
- Global Rare Disease Genetic Testing Technology Outlook (Revenue, USD Million, 2021-2033)
- FISH
- Array Technology
- Karyotyping
- PCR-based Testing
- Next Generation Sequencing
- Whole Exome Sequencing
- Whole Genome Sequencing
- Sanger Sequencing
- Global Rare Disease Genetic Testing Specialty Outlook (Revenue, USD Million, 2021-2033)
- Biochemical Genetic Tests
- Molecular Genetic Tests
- Chromosomal Genetic Tests
- Global Rare Disease Genetic Testing End Use Outlook (Revenue, USD Million, 2021-2033)
- Diagnostic Laboratories
- Research Laboratories & CROs
- Hospitals & Clinics
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Target buyers of Global rare disease genetic testing market databook
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Our clientele includes a mix of rare disease genetic testing market companies, investment firms, advisory firms & academic institutions.
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30% of our revenue is generated working with investment firms and helping them identify viable opportunity areas.
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Approximately 65% of our revenue is generated working with competitive intelligence & market intelligence teams of market participants (manufacturers, service providers, etc.).
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Horizon Databook provides a detailed overview of global-level data and insights on the Global rare disease genetic testing market , including forecasts for subscribers. This global databook contains high-level insights into Global rare disease genetic testing market from 2021 to 2033, including revenue numbers, major trends, and company profiles.
Partial client list
Global rare disease genetic testing market size, by regions, 2021-2033 (US$M)
Top 10 countries: Rare disease genetic testing market size, 2025 (US$M)
Global rare disease genetic testing market share, by technology, 2025 & 2033 (%, US$M)
Rare disease genetic testing market: Opportunity assessment by country
Global rare disease genetic testing market, by region, 2025 (US$M)
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