Rare Disease Genetic Testing Market Size Worth $3,102.4 Million By 2032 | CAGR: 12.70%

Rare Disease Genetic Testing Market Size Worth $3,102.4 Million By 2032 | CAGR: 12.70%

The global Rare Disease Genetic Testing market size is expected to reach USD 3,102.4 million by 2032, according to a new study by Polaris Market Research. The report “Rare Disease Genetic Testing Market Share, Size, Trends, Industry Analysis Report, By Disease Type; By Technology; By Speciality; By End-Use (Research Laboratories & Cros, Hospitals & Clinics, Diagnostic Laboratories); By Region; Segment Forecast, 2024 - 2032” gives a detailed insight into current market dynamics and provides analysis on future market growth.

The rare disease genetic testing market is experiencing significant growth due to the technological advancements that have played a crucial role in expanding the market. With the development of customized testing kits for specific therapeutic areas, genetic testing has become more targeted and efficient, enhancing diagnostic accuracy and improving patient outcomes.

The growing awareness among healthcare professionals and patients about the benefits of genetic testing has contributed to market expansion. Genetic testing helps understand the underlying genetic causes of rare diseases, enables personalized treatment approaches, and aids in genetic counseling for patients and their families.

Furthermore, favorable government initiatives and policies supporting rare disease research and diagnosis have further boosted the market. Regulatory agencies have collaborated with research institutions and genetic testing companies to streamline the approval processes for genetic tests and promote their availability.

Do you have any questions? Would you like to request a sample or make an inquiry before purchasing this report? Simply click the link below: https://www.polarismarketresearch.com/industry-analysis/rare-disease-genetic-testing-market/request-for-sample

The increasing prevalence of chronic disorders has fueled the demand for genetic testing. Rare diseases, often of genetic origin, are being diagnosed more frequently, necessitating gene testing for accurate identification and personalized treatment approaches. This rising demand has propelled the growth of the market.

The market has also benefited from data collection and interpretation technology advancements in clinical practices. Higher-quality registries and improved data analysis techniques enable more comprehensive and precise genetic testing, facilitating the identification of rare disorders. Companies like Centogene N.V. have integrated genetic testing with metabolomics or proteomics, enhancing the effectiveness of data analysis and expanding market opportunities.

Government and regulatory support in emerging countries has created favorable conditions for market growth. For example, the Indian government's launch of the National Policy for Rare Diseases (NPRD) in 2021 has provided financial assistance for patients suffering from listed rare diseases. Such initiatives encourage research and facilitate access to genetic testing, driving market expansion.

Rare Disease Genetic Testing Market Report Highlights

  • The endocrine and metabolism diseases segment accounted for the significant market share in 2022. Rising interest in comprehending endocrine disorders' molecular and genetic etiology, such as Cushing's syndrome, is fueling this trend.
  • Next-generation sequencing segment is anticipated to hold a significant market share during the forecast period due to adopting next-generation sequencing-based gene panels across various applications, including neurologic disease, cancer, pediatric conditions, cardiovascular disease, psychiatric disorders, and other disease testing.
  • The molecular genetic tests segment is anticipated to grow fastest in the market due to technological advancements, and clinical expertise in managing high-throughput technologies is credited for driving this growth.
  • Research Laboratories & CROs segment holds the largest revenue share due to laboratories playing a crucial role in the market, offering diverse testing specialties such as molecular, chromosomal, and biochemical genetic tests.
  • North America is expected to hold the largest market share over the forecast period. The rising prevalence of rare diseases, extensive disease registries, dedicated research and development centers for ultra-rare diseases, and substantial investments in disease detection are driving factors.
  • The global key market players include Opko Health, Inc., Arup Laboratories, Color Genomics, Inc., PreventionGenetics, Centogene N.V., Laboratory Corporation of America Holdings, 3Million, Inc., Genomenon, Progenity, Inc., Coopersurgical, Inc., Strand Life Sciences, Invitae Corp., Quest Diagnostics Inc.

Polaris Market Research has segmented the Rare Disease Genetic Testing market report based on disease type, technology, speciality, end-use, and region:

Rare Disease Genetic Testing, Disease Type Outlook (Revenue - USD Million, 2019 - 2032)

  • Neurological Disease
  • Immunological Disorders
  • Hematology Diseases
  • Endocrine & Metabolism Diseases
  • Cancer
  • Musculoskeletal Disorders
  • Cardiovascular Disorders
  • Dermatology Disease
  • Others

Rare Disease Genetic Testing, Technology Outlook (Revenue - USD Million, 2019 - 2032)

  • Next-Generation Sequencing
  • Whole Exome
  • Whole Genome
  • Array Technology
  • PCR-based Testing
  • FISH
  • Sanger Sequencing
  • Karyotyping

Rare Disease Genetic Testing, Speciality Outlook (Revenue - USD Million, 2019 - 2032)

  • Molecular Genetic Tests
  • Chromosomal Genetic Tests
  • Biochemical, Genetic Tests

Rare Disease Genetic Testing, End-use Outlook (Revenue - USD Million, 2019 - 2032)

  • Research Laboratories & Cros
  • Hospitals & Clinics
  • Diagnostic Laboratories

Rare Disease Genetic Testing, Regional Outlook (Revenue - USD Million, 2019 - 2032)

  • 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

Rare Disease Genetic Testing Market Report Scope

Report Attributes


Market size value in 2024

USD 374.7 million

Revenue forecast in 2032

USD 3,102.4 million


12.70% from 2024 – 2032

Base year


Historical data

2019 – 2022

Forecast period

2024 – 2032

Quantitative units

Revenue in USD million and CAGR from 2024 to 2032

Segments Covered

By Disease Type, By Technology, By Speciality, By End-Use, By Region

Regional scope

North America, Europe, Asia Pacific, Latin America; Middle East & Africa


Report customization as per your requirements with respect to countries, region and segmentation.

For Specific Research Requirements

Request for Customized Report