North America Rare Disease Genetic Testing Market Size & Outlook

The rare disease genetic testing market in North America is expected to reach a projected revenue of US$ 711.4 million by 2028. A compound annual growth rate of 8.7% is expected of North America rare disease genetic testing market from 2021 to 2028.

Revenue, 2020 (US$M)
$365.7
Forecast, 2028 (US$M)
$711.4
CAGR, 2021 - 2028
8.7%
Report Coverage
North America

North America rare disease genetic testing market highlights

  • The North America rare disease genetic testing market generated a revenue of USD 365.7 million in 2020.
  • The market is expected to grow at a CAGR of 8.7% 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.
  • Country-wise, Canada is expected to register the highest CAGR from 2021 to 2028.


North America data book summary

Market revenue in 2020USD 365.7 million
Market revenue in 2028USD 711.4 million
Growth rate8.7% (CAGR from 2020 to 2028)
Largest segmentImmunological disorders
Fastest growing segmentEndocrine & Metabolism Diseases
Historical data covered2016 - 2019
Base year for estimation2020
Forecast period covered2021 - 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, North America region accounted for 46.9% of the global rare disease genetic testing market in 2020.
  • Globally, North America is projected to lead the regional market in terms of revenue in 2028.
  • Asia Pacific is the fastest growing regional market and is projected to reach USD 310.8 million by 2028.

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Rare Disease Genetic Testing Market Companies

Name Profile # Employees HQ Website

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 12.69% in 2020. 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 2016 to 2028.


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,. ARCHIMEDlife 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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  • 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 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 2016 to 2028, including revenue numbers, major trends, and company profiles.

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North America rare disease genetic testing market size, by country, 2016-2028 (US$M)

North America Rare Disease Genetic Testing Market Outlook Share, 2020 & 2028 (US$M)

North America rare disease genetic testing market size, by country, 2016-2028 (US$M)

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