Home Press Releases Rare Disease Genetic Testing Market Size Worth $2,414.90 Million By 2030 | CAGR: 13.9%

Rare Disease Genetic Testing Market Size Worth $2,414.90 Million By 2030 | CAGR: 13.9%

The global rare disease genetic testing market size is expected to reach USD 2,414.90 million by 2030 according to a new study by Polaris Market Research. The report Rare Disease Genetic Testing Market Share, Size, Trends, Industry Analysis Report, By Specialty (Molecular Genetic Tests, Chromosomal Genetic Tests, Biochemical Genetic Tests); By Technology; By Disease Type; By End-Use; By Region; Segment Forecast, 2022 – 2030” gives a detailed insight into current market dynamics and provides analysis on future market growth.


Increasing technological advancements, including NGS and microarray, are prominent factors responsible for the market’s growth. Also, the existence of Rare Diseases Clinical Research Network (RDCRN), an NIH-funded research network of 23 active research groups focused on the diagnosis & treatment of disorders, is anticipated to impact the industry positively. Furthermore, the decline in sequencing prices has shifted the attention to testing rare diseases, which has influenced the adoption of NGS, resulting in the market’s growth.


Translational research and genomic technologies play a crucial role in accelerating the investigation and identification of new mutations, which aid in market expansion. Due to numerous translational research activities in this field, genetic testing in disease diagnostics is expected to rise rapidly throughout the projection period.


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An increase in patient registry for rare diseases and development of new products to treat rare diseases are stimulating the growth of the market. The market is expected to grow as the number and quality of available registries continue to expand. So advanced data collection and interpretation technologies that can be used in clinical practices improve. An increasing number of patients undergoing disease testing, as well as increased government assistance, will fuel several new opportunities for market growth.


Rare Disease Genetic Testing Market Report Highlights

  • Endocrine and metabolism disease witnessed the largest market share in 2021 due to the growing number of patients with Cushing’s syndrome.
  • The next-generation sequencing segment acquires significant market share due to increasing medical acceptance of whole exome sequencing-based gene tests.
  • Molecular genetic test segment is anticipated to hold considerable market share during the forecast period due to advanced testing technologies such as genome sequencing, which is affordable.
  • Research labs & CROs accounted largest market share in 2021 due to a large number of genetic tests performed in research laboratories and CROs.
  • North America dominated the market in 2021 due to the high prevalence of rare diseases and the abundance of registries in this region.
  • The global market is highly competitive owing to the existence of large industry players with a global presence of 3billion, Inc., Ambry Genetics, Artemis DNA, Arup Laboratories, Baylor Genetics, Centogene N.V., Color Genomics, Inc., Coopersurgical, Inc., Eurofins Scientific, Fulgent Genetics Inc., Genomenon, Health Network Laboratories, Invitae Corp., Laboratory Corporation of America Holdings, Macrogen, Inc., Myriad Genetics, Inc., Opko Health, Inc., Perkin Elmer, Inc., PreventionGenetics, Progenity, Inc., Quest Diagnostics Inc., Realm IDX, Inc., and Strand Life Sciences.


Polaris Market Research has segmented the rare disease genetic testing market report based on disease type, technology, specialty, end-use, and regions:


Rare Disease Genetic Testing, Disease Type Outlook (Revenue – USD Million, 2018 – 2030)

  • Neurological disease
  • Immunological disorders
  • Hematology diseases
  • Endocrine and metabolism diseases
  • Cancer
  • Musculoskeletal disorders
  • Cardiovascular disorders
  • Dermatological disease
  • Others

Rare Disease Genetic Testing, Technology Outlook (Revenue – USD Million, 2018 – 2030)

  • Next-generation sequencing
  • Whole Exome
  • Whole Genome
  • Array Technology
  • PCR-based testing
  • FISH
  • Sanger Sequencing
  • Karyotyping

Rare Disease Genetic Testing, Specialty Outlook (Revenue – USD Million, 2018 – 2030)

  • Molecular genetic tests
  • Chromosomal genetic tests
  • Biochemical genetic tests

Rare Disease Genetic Testing, End-Use Outlook (Revenue – USD Million, 2018 – 2030)

  • Research Lab and CROs
  • Hospitals and Clinics
  • Diagnostic Laboratories

Rare Disease Genetic Testing, Regional Outlook (Revenue – USD Million, 2018 – 2030)

  • North America
    • U.S
    • Canada
  • Europe
    • Germany
    • UK
    • France
    • Italy
    • Spain
    • Russia
    • Netherlands
  • Asia Pacific
    • China
    • India
    • Japan
    • South Korea
    • Indonesia
    • Malaysia
  • Latin America
    • Argentina
    • Brazil
    • Mexico
  • Middle East & Africa
    • UAE
    • Saudi Arabia
    • Israel
    • South Africa

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