North America Rare Disease Genetic Testing Market Size & Outlook
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North America rare disease genetic testing market highlights
- The North America rare disease genetic testing market generated a revenue of USD 515.6 million in 2024.
- The market is expected to grow at a CAGR of 13.9% from 2025 to 2030.
- In terms of segment, immunological disorders was the largest revenue generating disease type in 2024.
- Endocrine & Metabolism Diseases is the most lucrative disease type segment registering the fastest growth during the forecast period.
- Country-wise, Mexico is expected to register the highest CAGR from 2025 to 2030.
North America data book summary
| Market revenue in 2024 | USD 515.6 million |
| Market revenue in 2030 | USD 1,102.3 million |
| Growth rate | 13.9% (CAGR from 2025 to 2030) |
| Largest segment | Immunological disorders |
| Fastest growing segment | Endocrine & Metabolism Diseases |
| Historical data covered | 2018 - 2023 |
| Base year for estimation | 2024 |
| Forecast period covered | 2025 - 2030 |
| Quantitative units | Revenue in USD million |
| Market segmentation | Neurological Disorders, Immunological Disorders, Hematology Diseases, Endocrine & Metabolism Diseases, Cancer, Musculoskeletal Disorders, Cardiovascular Disorders, Dermatology Disease |
| Key market players worldwide | Quest Diagnostics Inc, Centogene NV Ordinary Shares, Invitae Corp, Eurofins Scientific SE, PerkinElmer, Macrogenics Inc, Fulgent Genetics Inc, Myriad Genetics Inc, Labcorp Holdings Inc, OPKO Health Inc, 3billion, ARUP Laboratories, Strand Life Sciences, Ambry Genetics, REALM IDx, Inc., Baylor Genetics, Health Network Laboratories, PreventionGenetics, Biora Therapeutics, CooperSurgical, Artemis DNA |
Other key industry trends
- In terms of revenue, North America region accounted for 46.8% of the global rare disease genetic testing market in 2024.
- Globally, North America is projected to lead the regional market in terms of revenue in 2030.
- Asia Pacific is the fastest growing regional market and is projected to reach USD 529.4 million by 2030.
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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 |
North America 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.
Immunological disorders was the largest segment with a revenue share of 15.85% in 2024. Horizon Databook has segmented the North America 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 2018 to 2030.
Factors such as high incidence of rare diseases, large number of rare disease registries, presence of substantial numbers of R&D facilities for rare & ultra rare diseases, and extensive investments in diagnosis of rare diseases in countries of North America have driven the revenue in this region.
In addition, increase in collaborations between companies to extend their testing services across the region is driving the revenue share. For instance, in September 2019,. ARCHIMED life Medical Laboratory entered in a mutually beneficial partnership with Blueprint Genetics to combine biochemical testing with genetic testing to drive clinical research.
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Target buyers of North America 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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The rest of the revenue is generated working with academic and research not-for-profit institutes. We do our bit of pro-bono by working with these institutions at subsidized rates.
Horizon Databook provides a detailed overview of continent-level data and insights on the North America rare disease genetic testing market , including forecasts for subscribers. This continent databook contains high-level insights into North America rare disease genetic testing market from 2018 to 2030, including revenue numbers, major trends, and company profiles.
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North America rare disease genetic testing market size, by country, 2018-2030 (US$M)
North America Rare Disease Genetic Testing Market Outlook Share, 2024 & 2030 (US$M)
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