Rare Disease Genetic Testing Market Summary

The global rare disease genetic testing market size was estimated at USD 1,101.8 million in 2024 and is projected to reach USD 2,521.4 million by 2030, growing at a CAGR of 15.3% from 2025 to 2030. This strong growth trajectory is primarily attributed to continuous advancements in next-generation sequencing (NGS) technologies, which have significantly improved the accuracy, speed, and efficiency of genetic testing. In addition, increasing awareness of rare genetic disorders among healthcare professionals and patients, along with the rising demand for personalized and precision medicine, is contributing to the expansion of the market worldwide.

Government initiatives and funding aimed at supporting rare disease research play a crucial role in accelerating market growth. Enhanced accessibility to genetic counseling services has also improved early diagnosis and disease management. Furthermore, the declining cost of genetic testing technologies and the increasing adoption of whole genome sequencing and whole exome sequencing have made advanced diagnostics more affordable and widely available. Strategic collaborations between biotechnology companies, diagnostic laboratories, and research institutions are strengthening diagnostic capabilities and expanding testing portfolios, thereby driving overall market demand.

Key Market Trends & Insights

  • North America rare disease genetic testing market dominated the global market with a share of 46.79% in 2024. This dominance is supported by well-established healthcare infrastructure, high adoption of advanced genetic testing technologies, strong research and development activities, and favorable reimbursement policies. The presence of major market players and extensive government support for genomic research further reinforces the region’s leading position.
  • Based on disease, the immunological disorders segment held the largest share of 12.56% in 2024 and is expected to continue the trend during the forecast period. The high prevalence of rare immunological conditions, increasing awareness, and the growing need for early and accurate diagnosis are key factors supporting the dominance of this segment.
  • Based on technology, the Next Generation Sequencing segment held the largest share of 35.50% in 2024. The widespread adoption of NGS is driven by its ability to analyze multiple genes simultaneously, provide comprehensive genetic insights, and reduce turnaround time compared to traditional testing methods.
  • Based on specialty, the molecular genetic tests segment dominated the market for rare disease genetic testing market and accounted for the largest revenue share of 41.12% in 2024. This is due to the high reliability and precision of molecular testing techniques in identifying genetic mutations associated with rare diseases.
  • Based on end-use, the research laboratories & CROs segment dominated the market for rare disease genetic testing market and accounted for the largest revenue share of 46.46% in 2024. The dominance of this segment is linked to extensive research activities, increasing clinical trials, and growing investments in genetic research by academic institutions and contract research organizations.

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Market Size & Forecast

  • 2024 Market Size: USD 1,101.8 million
  • 2030 Projected Market Size: USD 2,521.4 million
  • CAGR (2025-2030): 15.3%
  • North America: Largest market in 2024

Key Companies & Market Share Insights

Some of the key market players include Quest Diagnostics, Inc.; Centogene N.V.; Invitae Corp.; 3billion, Inc.; Arup Laboratories; among others. These players are undertaking various strategic initiatives to increase their share in the market. New product development, collaborations, and partnerships are some such endeavors.

Key Players

  • Quest Diagnostics Inc.
  • Centogene N.V.
  • Invitae Corp.
  • 3billion, Inc.
  • Arup Laboratories
  • Eurofins Scientific
  • Strand Life Sciences
  • Ambry Genetics
  • Perkin Elmer, Inc.
  • Realm IDX, Inc.
  • Macrogen, Inc.
  • Baylor Genetics
  • Color Genomics, Inc.
  • Health Network Laboratories
  • PreventionGenetics
  • Progenity, Inc.
  • Coopersurgical, Inc.
  • Fulgent Genetics Inc.
  • Myriad Genetics, Inc.
  • Laboratory Corporation of America Holdings
  • Opko Health, Inc.
  • Artemis DNA

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Conclusion

The rare disease genetic testing market is experiencing significant growth driven by technological innovation, supportive government policies, and increasing awareness of rare genetic conditions. Advancements in next-generation sequencing and molecular diagnostic techniques have enhanced diagnostic accuracy and accessibility. Regional dominance by North America, along with strong contributions from research laboratories and CROs, highlights the importance of research-driven demand. As costs continue to decline and collaborations expand, the market is expected to witness sustained growth, improving early diagnosis, personalized treatment, and overall patient outcomes for rare diseases globally.