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Rare Disease Genetic Testing Market Report 2022: Rising Patients Getting Tested Presents Opportunities

Dublin, Nov. 30, 2022 (GLOBE NEWSWIRE) — The “Rare Disease Genetic Testing Market Share, Size, Trends, Industry Analysis Report, By Specialty; by technology; by type of disease; by end use; by region; Segment forecast, 2022-2030″ report has been added to from offer.

According to a new study, the global rare disease genetic testing market size is expected to reach USD 2,414.90 million by 2030. The report provides a detailed overview of current market dynamics and provides analysis of future growth of the market.

Growing technological advancements including NGS and microarray are significant factors responsible for the growth of the market. Additionally, the existence of the Rare Diseases Clinical Research Network (RDCRN), an NIH-funded research network comprised of 23 active research groups focused on the diagnosis and treatment of disorders, is expected to have a positive impact on industry. Additionally, declining sequencing prices have shifted the focus towards rare disease testing, which has influenced the adoption of NGS, driving the growth of the market.

Translational research and genomic technologies play a crucial role in accelerating the investigation and identification of new mutations, which contribute to market expansion. Due to the many translational research activities in this area, genetic testing in disease diagnosis is expected to increase rapidly throughout the projection period.

An increase in patient registry for rare diseases and development of new products to treat rare diseases is driving the growth of the market. The market is expected to grow as the number and quality of available registries continue to increase. Thus, advanced technologies for collecting and interpreting data that can be used in clinical practices are improving. An increasing number of patients being tested, along with increased government assistance, will fuel several new market growth opportunities.

Rare Disease Genetic Testing Market Report Highlights

  • Endocrine and metabolic diseases recorded the largest market share in 2021 owing to the growing number of Cushing’s syndrome patients.
  • The next generation sequencing segment is gaining significant market share owing to the growing medical acceptance of genetic testing based on whole exome sequencing.
  • The molecular genetic testing segment is expected to hold a considerable market share over the forecast period owing to advanced testing technologies such as genome sequencing which is affordable.
  • Research laboratories and CROs accounted for the largest market share in 2021 due to a large number of genetic tests performed in research laboratories and CROs.
  • North America led the market in 2021 owing to high prevalence of rare diseases and abundance of registries in this region.

The publisher has segmented the Genetic Testing for Rare Diseases market report on the basis of disease type, technology, specialty, end-use, and regions:
Rare Disease Genetic Testing, Disease Type Outlook (Revenue – USD Million, 2018 – 2030)

  • Neurological disease
  • Immunological disorders
  • Blood diseases
  • Endocrine and Metabolic Diseases
  • Cancer
  • Musculoskeletal problems
  • Cardiovascular disorders
  • Dermatological disease
  • Others

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

  • Next Generation Sequencing
  • whole exome
  • whole genome
  • Matrix technology
  • PCR-based test
  • 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 laboratory and CRO
  • Hospitals and Clinics
  • Diagnostic laboratories

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

  • North America
  • WE
  • 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 and Africa
  • United Arab Emirates
  • Saudi Arabia
  • Israel
  • South Africa

Main topics covered:

1. Introduction

2. Executive Summary

3. Research methodology

4. Global Rare Disease Genetic Testing Market Overview

5. Global Rare Disease Genetic Testing Market, By Technology

6. Global Rare Disease Genetic Testing Market, By Specialty

7. Global Rare Disease Genetic Testing Market, By Disease Type

8. Global Rare Disease Genetic Testing Market, By End Use

9. Global Rare Disease Genetic Testing Market, By Geography

10. Competitive Landscape

11. Company Profiles

Companies cited

  • 3 billion Inc.
  • Amber genetics
  • Artemis DNA
  • Arup Laboratories
  • Baylor Genetics
  • Centogen SA
  • Color Genomics Inc.
  • Coopersurgical Inc.
  • Eurofins Scientific
  • Fulgent Genetics Inc.
  • Genome
  • Health network laboratories
  • Invitee Corp.
  • Laboratory Corporation of America Holdings
  • Macrogene Inc.
  • Myriad Genetics Inc.
  • Opko Health Inc.
  • Perkin Elmer Inc.
  • PreventionGenetics
  • Offspring Inc.
  • Quest Diagnostics Inc.
  • Realm IDX Inc.
  • Life Sciences stream.

For more information about this report visit

  • Rare Disease Genetic Testing Market


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