Europe Rare Disease Genetic Testing Market Size & Outlook

The rare disease genetic testing market in Europe is expected to reach a projected revenue of US$ 651.2 million by 2030. A compound annual growth rate of 14.5% is expected of Europe rare disease genetic testing market from 2025 to 2030.
Revenue, 2024 (US$M)
$295.0
Forecast, 2030 (US$M)
$651.2
CAGR, 2025 - 2030
14.5%
Report Coverage
Europe

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Europe rare disease genetic testing market, 2018-2030 (US$M)

Europe rare disease genetic testing market, 2018-2030 (US$M)

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Related Markets

Europe rare disease genetic testing market highlights

  • The Europe rare disease genetic testing market generated a revenue of USD 295.0 million in 2024.
  • The market is expected to grow at a CAGR of 14.5% 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, UK is expected to register the highest CAGR from 2025 to 2030.

Europe data book summary

Market revenue in 2024USD 295.0 million
Market revenue in 2030USD 651.2 million
Growth rate14.5% (CAGR from 2025 to 2030)
Largest segmentImmunological disorders
Fastest growing segmentEndocrine & Metabolism Diseases
Historical data covered2018 - 2023
Base year for estimation2024
Forecast period covered2025 - 2030
Quantitative unitsRevenue in USD million
Market segmentationNeurological Disorders, Immunological Disorders, Hematology Diseases, Endocrine & Metabolism Diseases, Cancer, Musculoskeletal Disorders, Cardiovascular Disorders, Dermatology Disease
Key market players worldwideQuest 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, Europe region accounted for 26.8% 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 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

Europe 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 17.05% in 2024. Horizon Databook has segmented the Europe 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.


Effective regulatory plans to combat rare disease across Europe is one of the key drivers of Europe market. Furthermore, presence of a substantial number of registries that provides data and relevant information pertaining to rare disease has aided in the revenue growth over the past years.

In addition, ongoing conferences in the region to raise awareness for rare and ultra-rare conditions is anticipated to boost adoption of diagnostic kits and services in the region. For instance, Ergomed and PSR Orphan Experts, with its offices in the UK, Germany, the Netherlands, Poland, and other countries.

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Horizon Databook provides a detailed overview of continent-level data and insights on the Europe rare disease genetic testing market , including forecasts for subscribers. This continent databook contains high-level insights into Europe rare disease genetic testing market from 2018 to 2030, including revenue numbers, major trends, and company profiles.

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Europe rare disease genetic testing market size, by country, 2018-2030 (US$M)

Europe Rare Disease Genetic Testing Market Outlook Share, 2024 & 2030 (US$M)

Europe rare disease genetic testing market size, by country, 2018-2030 (US$M)

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