UK Rare Disease Genetic Testing Market Size & Outlook
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UK rare disease genetic testing market highlights
- The UK rare disease genetic testing market generated a revenue of USD 59.6 million in 2024 and is expected to reach USD 158.6 million by 2030.
- The UK market is expected to grow at a CAGR of 18.3% 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.
Rare disease genetic testing market data book summary
| Market revenue in 2024 | USD 59.6 million |
| Market revenue in 2030 | USD 158.6 million |
| Growth rate | 18.3% (CAGR from 2025 to 2030) |
| Largest segment | Immunological disorders |
| Fastest growing segment | Endocrine & Metabolism Diseases |
| Historical data | 2018 - 2023 |
| Base year | 2024 |
| Forecast period | 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, UK accounted for 5.4% of the global rare disease genetic testing market in 2024.
- Country-wise, U.S. is expected to lead the global market in terms of revenue in 2030.
- In Europe, UK rare disease genetic testing market is projected to lead the regional market in terms of revenue in 2030.
- UK is the fastest growing regional market in Europe and is projected to reach USD 158.6 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 |
UK 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 17.28% in 2024. Horizon Databook has segmented the UK 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.
The UK government has published the UK Strategy for Rare Diseases in 2013, a high-level framework, as a strategic vision for 2013-2020 that covers various key areas including diagnosis & early intervention; empowering patient with rare diseases; identification and prevention of rare diseases; and others.
In February 2019, an update to the implementation plan of this strategy for England was published. Such initiatives by government bodies in the country is one of the key driving forces of this market. In April 2019, Clinithink announced its partnership with Rady Children’s Institute.
For Genomic Medicine (RGIGM) for diagnosis of rare genetic diseases in record time using machine learning process and clinical natural language processing. Such collaborations are expected to expand the use of genome sequencing as a first-line diagnostic test for children with rare genetic disorders.
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Target buyers of UK 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 country-level data and insights on the UK rare disease genetic testing market , including forecasts for subscribers. This country databook contains high-level insights into UK rare disease genetic testing market from 2018 to 2030, including revenue numbers, major trends, and company profiles.
Partial client list
UK rare disease genetic testing market size, by disease type, 2018-2030 (US$M)
UK Rare Disease Genetic Testing Market Outlook Share, 2024 & 2030 (US$M)
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