South Korea Rare Disease Genetic Testing Market Size & Outlook

The rare disease genetic testing market in South Korea is expected to reach a projected revenue of US$ 34.7 million by 2030. A compound annual growth rate of 18.8% is expected of South Korea rare disease genetic testing market from 2025 to 2030.
Revenue, 2024 (US$M)
$12.9
Forecast, 2030 (US$M)
$34.7
CAGR, 2025 - 2030
18.8%
Report Coverage
South Korea

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

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

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South Korea rare disease genetic testing market highlights

  • The South Korea rare disease genetic testing market generated a revenue of USD 12.9 million in 2024 and is expected to reach USD 34.7 million by 2030.
  • The South Korea market is expected to grow at a CAGR of 18.8% from 2025 to 2030.
  • In terms of segment, neurological 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 2024USD 12.9 million
Market revenue in 2030USD 34.7 million
Growth rate18.8% (CAGR from 2025 to 2030)
Largest segmentNeurological disorders
Fastest growing segmentEndocrine & Metabolism Diseases
Historical data2018 - 2023
Base year2024
Forecast period2025 - 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, South Korea accounted for 1.2% 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 Asia Pacific, China rare disease genetic testing market is projected to lead the regional market in terms of revenue in 2030.
  • China is the fastest growing regional market in Asia Pacific and is projected to reach USD 183.9 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

South Korea 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 17.83% in 2024. Horizon Databook has segmented the South Korea 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 government bodies and healthcare agencies are undertaking various efforts to advance the management of rare diseases in the country. For instance, in January 2019, the Korea Centers for Disease Control and Prevention (KCDC) announced to commence a national project on increasing the number of hospitals that provide care for patients with rare diseases.

With this, hospitals’ capabilities and quality of medical service for rare disease diagnosis would improve. Furthermore, the Korean Ministry of Food and Drug Safety supports projects that aimed at helping patients suffering from rare diseases. In addition, the ministry operates a technology support team to support companies that are engaged in commercializing drugs and diagnostic devices for dementia.

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Target buyers of South Korea rare disease genetic testing market databook

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

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South Korea rare disease genetic testing market size, by disease type, 2018-2030 (US$M)

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

South Korea rare disease genetic testing market size, by disease type, 2018-2030 (US$M)

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