Rare Disease Testing Market Value & Industry Overview | Growth Outlook 2026

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Market Overview:

This report presents an extensive evaluation of the Rare Disease Testing Market, focusing on historical data from 2016 to 2019 while offering detailed forecasts for the period between 2021 to 2026. The analysis encompasses various aspects, including market Size, Share, Growth, Analysis, Trends and competitive insights.

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Table of Contents (Rare Disease Testing Market)

  1. Executive Summary
  2. Market Definition & Research Methodology
  3. Market Dynamics: Drivers, Challenge, Trend and Opportunities
  4. Segment Analysis and Geographical Breakdown
  5. Competitive Landscape & Strategic Initiatives
  6. Regulatory Environment & Policy Factors
  7. Growth Forecast Model (2021–2026)
  8. Appendix: Company Profiles, Data Sources, Methodology

What’s covered in the report?

Market Key Driver:

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.

Full Report Summery [TOC + Content] - https://www.marknteladvisors.com/research-library/rare-disease-testing-market.html  

Leading players of Rare Disease Testing Market including:

  • 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.

Rare Disease Testing Market Segmentation:

By Type

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

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

North America Dominates the Global Rare Disease Testing Market

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Key Highlights of MarkNtel Advisors' Research Methodology

  • MarkNtel Advisors uses a robust methodology for accurate market analysis.
  • Research objectives are clearly defined with tailored methodologies for clients.
  • A representative sample is selected to ensure reliable data collection.
  • Data analysis includes cleaning, statistical evaluations, and validation checks.
  • Predictive modeling forecasts trends, and reports include strategic recommendations.

About MarkNtel Advisors:

We are a leading market research firm providing research, consulting, and data-driven intelligence to clients across diverse industries globally. Our reports are tailored to help businesses identify lucrative opportunities and mitigate potential risks using actionable insights.

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