Rare Disease Testing Market: Trends, Forecast, and Competitive Landscape 2026

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Rare Disease Testing Market: Trends, Forecast, and Competitive Landscape 2026

Rare Disease Testing Market Overview and Insights:

According to MarkNtel Advisors Report, 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.

Rare Disease Testing Market research is an ongoing process. Consistent monitoring and evaluating of market dynamics to stay informed and adapt your strategies accordingly. As a market research and consulting firm, we offer market research reports that focus on major parameters including Target Market Identification, Customer Needs and Preferences, Thorough Competitor Analysis, Market Size Market Analysis, and other major factors. At the end, we do provide meaningful insights and actionable recommendations that inform decision-making and strategy development.

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Key Takeaways: Beneficial for Stakeholders and Clients:

  • Historical Data: 2016-19
  • Base Year: 2020
  • Forecast Period: 2021-2026

What are the major challenges facing the Rare Disease Testing Market?

  • Expensive sequencing procedures and their application in medical treatments
  • Lack of high-complexity testing centers

Who are the Key Players Operating in the Rare Disease Testing Industry?

The top companies of the Rare Disease Testing market ruling the industry 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.

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What is Included in Rare Disease Testing Market Segmentation?

The report has segmented the market into the following categories:

By Type

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

In 2021, Neurological Disease Testing captured more than 20% of the revenue share, and its dominance would continue to prevail during 2021-26. Neurological disease testing involves assessing hearing, vision, balance, coordination, speech, sensory skills, and mental status behavior. Laboratory screening of urine, blood, other body fluids helps doctors test understand disease severity and monitor levels of therapeutic drugs. Genetic testing can also be used to diagnose hereditary disorders.

By Acquisition

  • Genetic
  • Externally Acquired

By Technology

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

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

By Region

  • North America
  • South America
  • Europe
  • Middle East Africa
  • Asia Pacific

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Frequently Asked Questions (FAQs)-

  • What are the industry's overall statistics or estimates (Overview, Size- By Value, Forecast Numbers, Segmentation, Shares)?
  • What are the trends influencing the current scenario of the market?
  • How has the Rare Disease Testing industry been evolving in terms of geography adoption?
  • Who are the key competitors, and what strategic partnerships or ventures are they coming up with to stay afloat during the projected time frame?

About US:

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

We have our existence across the market for many years and have conducted multi-industry research across 80+ countries, spreading our reach across numerous regions like America, Asia-Pacific, Europe, the Middle East Africa, etc., and many countries across the regional scale, namely, the US, India, the Netherlands, Saudi Arabia, the UAE, Brazil, and several others.

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