Introduction

The Global Rare Disease Testing Market is experiencing a dynamic shift, driven by technological advancements, evolving consumer preferences, and changing economic landscapes. This market has become a focal point for stakeholders, including manufacturers, suppliers, and investors, who are keen on exploring growth opportunities in this evolving industry. As businesses strive to adapt to these changes, understanding the market's key drivers, segmentation, and regional dynamics becomes crucial. This blog provides an in-depth analysis of the Rare Disease Testing Market, examining the market overview, dynamics, segment analysis, and regional projections.

Market Overview

A rare disease is any disease that affects less than 5 in 10000 people, states WHO (World Health Organization), There are over 7000 such diseases and most of them have no effective treatment.

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. The market growth primarily attributes to the increasing prevalence of genetic disorders & various types of cancer. In addition to this, the paradigm shifts from reaction to prevention on a global level, increasing research funding, and surging usage of new techniques & developments are other crucial factors driving the market.

The research report “Global Rare Disease Testing Market Analysis, 2021” also states that the global market is expected to grow significantly due to various opportunities that lie within its domain. These include the massive scope toward adopting NGS (Next-Generation Sequencing) in emerging nations and technological advancements in molecular techniques for the whole genome & exome sequencing.

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Rare Disease Testing Market Dynamics

Several dynamics are shaping the Rare Disease Testing Market. On the demand side, the growing consumer focus on quality and sustainability is driving the need for advanced solutions. On the supply side, market players are intensifying competition by launching innovative products and expanding their geographic presence.

Key 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.

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.

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.

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Rare Disease Testing Market Segment Analysis

The Rare Disease Testing Market is segmented based on:

  1. By Type
    1. Cardiovascular
    2. Ophthalmological
    3. Neurological
    4. Oncological
    5. Hematological
    6. Endocrine and Metabolism
    7. Gastroenterologist
    8. Others
  2. By Acquisition
    1. Genetic
    2. Externally Acquired
  3. By Technology
    1. Next Generation Sequencing
    2. Complete Genome
    3. Complete Exome
    4. Micro Arrays
    5. Others
  4. By Age Group
    1. 0-15 yrs.
    2. 16-30 yrs.
    3. 31-45 yrs.
    4. Others
  5. By Products
    1. Kits & Assays
    2. Panels
    3. Others
  6. By End User
    1. Hospitals
    2. Diagnostics Laboratories
    3. Clinical Laboratories
    4. Contract Research Organizations
    5. Others
  7. By Region
    1. North America
    2. South America
    3. Europe
    4. Middle East & Africa
    5. Asia Pacific

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Key Players in the Market

Several key players dominate the Rare Disease Testing market, each striving to capture a larger share through product innovation, strategic partnerships, and expansion. Leading players include:

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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