Rare Disease Genetic Testing MarketPPT
                                 
                       
 
                   
 
          Rare Disease Genetic Testing Market 
  
 
 
• Rare Disease Genetic Testing Market Size Worth USD 3,790.38 Million by 2034 | 
CAGR: 13.2%
 “Rare Disease Genetic Testing Market Size, Share, Trends, Industry Analysis 
Report: By Technology, Speciality (Molecular Genetic Tests, Chromosomal Genetic 
Tests, and Biochemical Genetic Tests), Disease Type, End Use, and Region (North 
America, Europe, Asia Pacific, Latin America, and Middle East & Africa) – Market 
Forecast, 2025–2034”

                        
    
               Rare Disease Genetic Testing Market 
  
 
• The global rare disease genetic testing market size was valued at USD 1,106.88 
million in 2024 and is expected to reach USD 1,242.80 million by 2025 and 
3,790.38 million by 2034, exhibiting a CAGR of 13.2% during 2025–2034.
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                Rare Disease Genetic Testing Market 
• List of Key Companies in Rare Disease Genetic Testing Market
• 3billion, Inc.
• Ambry Genetics
• Baylor Genetics
• Blueprint Genetics (Quest Diagnostics)
• Centogene N.V.
• Eurofins Scientific
• GeneDx, LLC
• Genomenon
• Invitae Corporation
• Revvity
            Rare Disease Genetic Testing Market 
  
• Rare Disease Genetic Testing Market Report Highlights
• In terms of technology, the PCR-based testing segment is expected to grow at the fastest rate during the 
forecast period, driven by its high sensitivity, rapid turnaround time, and increasing applications in 
diagnosing rare genetic disorders.
• Based on end use, the diagnostic laboratories segment held the largest rare disease genetic testing market 
share due to the increasing demand for specialized genetic testing services, advanced diagnostic 
capabilities, and the growing adoption of next-generation sequencing (NGS) and PCR-based tests.
• In 2024, North America accounted for the largest share of the rare disease genetic testing market revenue, 
driven by the increasing prevalence of genetic disorders, rising adoption of advanced diagnostic 
technologies, and strong presence of key market players.
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