Rare Disease Genetic Testing Market Historical Data, Insights, Leading Players, Opportunities, And Forecast, 2021 – 2028

Rare Disease Genetic Testing Market Historical Data, Insights, Leading Players, Opportunities, And Forecast, 2021 – 2028

Report Summary

The market for genetic testing for rare diseases was estimated to be worth USD 919.7 million in 2020 and is projected to increase at a CAGR of 10.8% from 2021 to 2028. Technology advancements like NGS and microarray are important market drivers. The decrease in sequencing costs has raised awareness of the need to test for uncommon diseases. Additionally, the market is anticipated to expand as a result of the growing desire for early and quick diagnoses. Additionally, it is anticipated that the crucial role that translational research and genomic technologies will play in improving the analysis and detection of novel mutations will support the industry’s expansion. The use of genetic testing in illness diagnostics is predicted to experience rapid expansion during the projection period as a result of increased translational research activity in this field.

Diagnoses by Disease Type

During the projected period, the segment for endocrine & metabolism illnesses is anticipated to increase at the quickest rate, exceeding 19.80%. Endocrine disorders like Cushing’s syndrome have a greater grasp of its molecular and genetic roots in recent years. The use of genetic testing for endocrine illnesses is increased as a result. Additionally, it is predicted that the discovery of hereditary mutations in patients with bilateral macronodular adrenal hyperplasia and primary pigmented nodular adrenocortical disease would hasten the development of instruments for genetic testing for early illness diagnosis. The area with the second-highest revenue share was immunological disorders.

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Technology Perspectives

In 2021, the Next-Generation Sequencing (NGS) technology category led the global market and was responsible for the highest revenue share of more than 35.40%. The market has been driven by the widespread availability and use of NGS-based gene panels for testing of cancer, neurologic disease, cardiovascular disease, paediatric ailments, psychiatric disorders, and other associated diseases. Over the projection period, prominent companies’ strategic initiatives are expected to further propel the segment. For the sale of its genetic testing services, Avesthagen Ltd. struck a strategic alliance with Wipro Ltd. in June 2022.

End-use Perspectives

In 2021, the research laboratories & CROs category had the biggest revenue share—more than 46.90%—and led the global industry. The primary end users are laboratories; most frequently, blood samples taken from patients are forwarded to a lab for analysis. Molecular genetic tests, chromosomal genetic tests, and biochemical genetic tests are only a few of the testing based on numerous specialties that laboratories offer. Additionally, molecular genetic testing-based laboratory testing is expanding quickly on a global scale. Numerous labs, including those with CLIA accreditation for clinical cytogenetics, pathology, and chemistry among other disciplines, do genetic tests.

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Regional Perspectives

The industry has been further divided into North America, Europe, Asia Pacific, Latin America, and Middle East & Africa based on geographical regions. In 2021, North America held a share of more than 47.30% of the global market. The high prevalence of rare illnesses, the presence of numerous disease registries, a sizable number of R&D centres for ultra-rare diseases, and significant investments in disease detection are all factors that contribute to the region’s significant market share. On the other side, Asia Pacific is anticipated to experience the fastest growth throughout the course of the projection period.

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Some of the key players in the global rare disease genetic testing market include:

  • study include Quest Diagnostics Inc.
  • Invitae Corporation
  • Arup Laboratories
  • Centogene N.V.
  • Eurofins Scientific
  • Ambry Genetics
  • Baylor Genetics
  • Macrogen Inc.
  • Perkin Elmer Inc.
  • Color Genomics Inc.
  • Progenity Inc.
  • Health Network Laboratories
  • Fulgent Genetics Inc.
  • Coopersurgical Inc.
  • Laboratory Corporation of America Holdings
  • Myriad Genetics Inc.
  • Opko Health Inc.
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By Region

  • North America
    • The U.S.
    • Canada
  • Europe
    • France
    • The UK
    • Spain
    • Germany
    • Italy
    • Rest of Europe
  • Asia Pacific
    • China
    • Japan
    • India
    • South Korea
    • Southeast Asia
    • Rest of Asia Pacific
  • Latin America
    • Brazil
    • Mexico
    • Rest of Latin America
  • Middle East & Africa
    • GCC
    • South Africa
    • Rest of Middle East & Africa
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