U.S. Rare Disease Genetic Testing Market Size & Outlook

The rare disease genetic testing market in the United States is expected to reach a projected revenue of US$ 598.2 million by 2028. A compound annual growth rate of 8.3% is expected of the United States rare disease genetic testing market from 2021 to 2028.

Revenue, 2020 (US$M)
$315.1
Forecast, 2028 (US$M)
$598.2
CAGR, 2021 - 2028
8.3%
Report Coverage
U.S.

U.S. rare disease genetic testing market highlights

  • The U.S. rare disease genetic testing market generated a revenue of USD 315.1 million in 2020 and is expected to reach USD 598.2 million by 2028.
  • The U.S. market is expected to grow at a CAGR of 8.3% from 2021 to 2028.
  • In terms of segment, immunological disorders was the largest revenue generating disease type in 2020.
  • 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 2020USD 315.1 million
Market revenue in 2028USD 598.2 million
Growth rate8.3% (CAGR from 2020 to 2028)
Largest segmentImmunological disorders
Fastest growing segmentEndocrine & Metabolism Diseases
Historical data2016 - 2019
Base year2020
Forecast period2021 - 2028
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, U.S. accounted for 40.4% of the global rare disease genetic testing market in 2020.
  • Country-wise, U.S. is expected to lead the global market in terms of revenue in 2028.
  • In North America, U.S. rare disease genetic testing market is projected to lead the regional market in terms of revenue in 2028.
  • Canada is the fastest growing regional market in North America and is projected to reach USD 113.3 million by 2028.

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Rare Disease Genetic Testing Market Companies

Name Profile # Employees HQ Website

U.S. 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 12.69% in 2020. Horizon Databook has segmented the U.S. 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 2016 to 2028.


As per the National Institutes of Health (NIH), around 30 million Americans have been identified with one of 7,000+ known rare diseases. The number of patients undergoing disease testing is expected to increase in the coming years with growing awareness. The country celebrates the Rare Disease Day and promotes development in this area by raising awareness. 

In addition, presence of Rare Diseases Clinical Research Network (RDCRN), an NIH-funded research network of 23 active consortia or research groups that includes patients, researchers, and clinicians who are focused on diagnosis and treatment of rare disorders in the country is anticipated to positively impact the U.S. market.

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  • Our clientele includes a mix of rare disease genetic testing market companies, investment firms, advisory firms & academic institutions.
  • 30% of our revenue is generated working with investment firms and helping them identify viable opportunity areas.
  • 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 country-level data and insights on the U.S. rare disease genetic testing market , including forecasts for subscribers. This country databook contains high-level insights into U.S. rare disease genetic testing market from 2016 to 2028, including revenue numbers, major trends, and company profiles.

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U.S. rare disease genetic testing market size, by disease type, 2016-2028 (US$M)

U.S. Rare Disease Genetic Testing Market Outlook Share, 2020 & 2028 (US$M)

U.S. rare disease genetic testing market size, by disease type, 2016-2028 (US$M)

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