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Rare Disease Testing Market Breakdown By Size, Share, Growth, Trends

lizeldesouza by lizeldesouza
April 25, 2025
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Rare Disease Testing Market Breakdown By Size, Share, Growth, Trends
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MarkNtel Advisors recently published a detailed industry analysis of the Global Rare Disease Testing Market. The report covers growth trends, geographical marketing strategies, challenges, opportunities, and drivers influencing the market.

Global Rare Disease Testing Market, Share, and Trends Analysis Report – Industry Overview and Forecast to 2026

The Rare Disease Testing Market is anticipated to grow at a CAGR of around 9.29% during the forecast period, i.e., 2021-26. 

What are the major Driver the Rare Disease Testing Market ?

Rising Prevalence of Genetic Disorders- Rare diseases are not rare since there are more than 7000 of them, affecting 350 million people worldwide. Around 30 million people are affected by rare diseases in the U.S. About 10.00% of the world’s population suffers from rare diseases. Each year, the last day of February (28th or 29th) is celebrated as World Day for Rare Diseases to increase awareness about them so that early diagnosis and treatment are possible.

In the U.S., a disease is considered rare if it affects less than 200,000 people. In Europe, near 150 million people are affected by rare diseases. It is also to say that if all people with rare diseases live in a country, it would be the 3rd most populous country in the world. The research and development, product launches, funding, collaborations are on the way as companies have started focusing on rare disease diagnosis & therapeutics.

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Rare diseases affect more people than the combination of AIDS & Cancer. The prevalence distribution of rare diseases is skewed, and about 80% of rare disease patients are affected by approximately 350 such diseases. Only 5 % of them have an FDA-approved treatment. Individual diseases may be rare, but the total number of people with rare diseases is high. Hence, the rising number of rare diseases shall demand diagnostic modalities & services over time, which, in turn, would propel the overall market growth.

✅In case you missed it, we are currently revising our reports. Click on the below to get the latest research data with forecast for years 2025 to 2030, including market size, industry trends, and competitive analysis. It wouldn’t take long for the team to deliver the most recent version of the report.

Access the detailed PDF Sample report – https://www.marknteladvisors.com/query/request-sample/rare-disease-testing-market.html

What segments define the Global Rare Disease Testing Market from 2021 to 2026? How do these segments contribute to market dynamics and growth?

By Type

  • Cardiovascular
  • Ophthalmological
  • Neurological
  • Oncological
  • Hematological
  • Endocrine and Metabolism
  • Gastroenterologist
  • Others

According to report, In 2021, Neurological Disease Testing captured more than 20% of the revenue share, and its dominance would continue to prevail during 2021-26. 

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By Acquisition

  • Genetic
  • Externally Acquired

By Technology

  • Next Generation Sequencing
  • Complete Genome
  • Complete Exome
  • Micro Arrays
  • Others

According to report, Complete Genome & Complete Exome technologies have evolved in terms of high resolution & accuracy, sequencing speed, throughput, and cost-effectiveness in genomic analysis to accelerate biological & biomedical research.

By Age Group

  • 0-15 yrs.
  • 16-30 yrs.
  • 31-45 yrs.
  • Others

By Products

  • Kits & Assays
  • Panels
  • Others

By End User

  • Hospitals
  • Diagnostics Laboratories
  • Clinical Laboratories
  • Contract Research Organizations
  • Others

Explore the Complete Global Rare Disease Testing Market Analysis Report – https://www.marknteladvisors.com/research-library/rare-disease-testing-market.html

Geographical Analysis: Global Rare Disease Testing Market

         By Region

  • North America
  • South America
  • Europe
  • Asia-Pacific
  • Rest of World

Global Rare Disease Testing Market Share & Competitive Landscape:

The Rare Disease Testing Market is characterized by intense competition, with several key players driving growth through innovation, market expansion, and strategic investments. The competitive landscape provides valuable insights into the industry’s leading companies, highlighting their strengths, financial performance, and market influence.

Leading Companies in the Global Rare Disease Testing Market are:

  • Quest Diagnostics Inc.
  • Centogene N.V.
  • Invitae Corporation.
  • 3billion, Inc.
  • Arup Laboratories.
  • Eurofins Scientific.
  • Strand Life Sciences.
  • Ambry Genetics.
  • Color Genomics, Inc.
  • Health Network Laboratories
  • PreventionGenetics
  • Progenity, Inc.
  • Myriad Genetics, Inc.
  • Laboratory Corporation of America Holdings
  • OPKO Health, Inc.

Questions Addressed in this Study

1.What factors are driving the Global Rare Disease Testing Market growth?

2.How is the Global Rare Disease Testing Market expected to grow over the next five years?

3.What are the key insights into the current trends in the Global Rare Disease Testing Market?

4.What is the current size of the Global Rare Disease Testing Market, and how is it projected to change in the future?

6.What is the future outlook for the Global Rare Disease Testing Market in terms of technological advancements and market expansion?

For a Customized Analysis Report, Just Drop Your Inquiry Here – https://www.marknteladvisors.com/query/request-customization/rare-disease-testing-market.html

Why MarkNtel Advisors?

MarkNtel Advisors is a leading research, consulting, & data analytics firm that provides an extensive range of strategic reports on diverse industry verticals. We deliver data to a substantial & varied client base, including multinational corporations, financial institutions, governments, & individuals, among others.

Our specialization in niche industries informed way and entail parameters like Go-to-Market (GTM), product development, feasibility analysis, project scoping, market segmentation, competitive benchmarking, market sizing & forecasting, & trend analysis, among others, for 15 diverse industrial verticals.

More Research Studies Report:

–Biocomposites Market size was valued at around USD 36.9 billion in 2024 and is projected to reach USD 89 billion by 2030 with a CAGR of around 16%.

–Green Solvents Market size was valued at around USD 1.34 billion in 2024 & is projected to reach USD 1.87 billion by 2030 with a CAGR of around 5.7%.

For Media Inquiries, Please Contact:

Email: sales@marknteladvisors.com

Sales Office: 564 Prospect St, B9, New Haven, Connecticut, USA-06511

Corporate Office: Office No.109, H-159, Sector 63, Noida, Uttar Pradesh-201301, India

Tags: Rare Disease Testing Market analysisRare Disease Testing Market ShareRare Disease Testing Market Size
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