Comprehensive Research Report on Global Rare Disease Testing Market Analysis, Forecast 2021-2026

MarkNtel Advisors, one of the leading market research firms, has come up with its latest report, titled Global Rare Disease Testing Market. The analysts meticulously assessed the collected material, employing a blend of primary and secondary research activities to extract valuable insights.

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

“In case you missed it, we are currently revising our reports. Click on the below to get the most latest research data with forecast for years 2024 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.”

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Market Driver:

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.

Market Segmentation

The report’s key sections have undergone thorough scrutiny by industry experts, who explored the aforementioned categories and sub-segments. Profitability and  potential of the Rare Disease Testing industry were investigated in detail. This research section also provides sales and revenue projections for 2021-2026 based on factors such as price, sales, and revenue.

The Global Rare Disease Testing Market is segmented as follows:

By Type






-Endocrine and Metabolism



By Acquisition


-Externally Acquired

By Technology

-Next Generation Sequencing

-Complete Genome

-Complete Exome

-Micro Arrays


By Age Group

-0-15 yrs.

-16-30 yrs.

-31-45 yrs.


By Products

-Kits & Assays



By End User


-Diagnostics Laboratories

-Clinical Laboratories

-Contract Research Organizations


Geographically, the Global Rare Disease Testing Market extends across the following regions:

By Region

-North America

-South America


-Middle East & Africa

-Asia Pacific

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Analysis of  Drivers & Restraints:

The Global Rare Disease Testing Research delves into the factors propelling and impeding market , presenting an overview of emerging trends in corporate strategies, procedures, and the adoption of financially prudent, long-term approaches. The market study encompasses crucial details such as industry overview, specifications, definitions, suppliers, R&D status, cost structure analysis, technology sources, key players, segmentation, applications, and regional analysis.

  • 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

Key Questions Addressed in this Report:

  1. Who are the primary stakeholders in the supply chain, and what are the interconnections among them?
  2. What plans and initiatives are in place among existing market participants to establish a presence in the Rare Disease Testing market?
  3. Which segment currently leads in the Rare Disease Testing market, and which category is poised to take the lead in the future?
  4. What factors are anticipated to drive demand for Rare Disease Testing during the forecast period?
  5. Which country is expected to dominate the market during the forecast period?
  6. What are the main obstacles to the expansion of the Rare Disease Testing market?
  7. What are the primary opportunities that leading companies identify in the business?

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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 & emerging geographies allows our clients to formulate their strategies in a much more 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.

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