Press Release

Rare Disease Diagnostics Market to be dominated by Growing Incidence of Rare Disorders through 2027

Growing prevalence of rare diseases and rise in technological advancements to drive the rare disease diagnostics market in the forecast period, 2023-2027.

According to TechSci Research report, “Rare Disease Diagnostics Market - Global Industry Size, Share, Trends, Opportunity, and Forecast, 2017-2027, the global rare disease diagnostics market is anticipated to grow at a significant rate in the forecast period, 2023-2027. The rising incidence of rare disorders, rising awareness of diagnosis of rare diseases, and extensive research and development are the primary factors driving the demand for the global rare disease diagnostics market. Growing adoption of advanced technology and declining sequencing cost, expanding patient registry for rare disease, and heavy investments in healthcare sector are expected to influence the market demand. Also, the growing launch of programs & new product development in rare disease diagnosis is also a key factor for increasing the growth of the Rare Disease Diagnostics market, globally.

However, the growing launch of programs & new product development in rare disease diagnosis may hamper the growth of the global Rare Disease Diagnostics market.

Browse over XX market data Figures spread through 110 Pages and an in-depth TOC on "Rare Disease Diagnostics Market"

The global rare disease diagnostics market is segmented into indication, trait type, test type, technology, sample type, end user and company.

Based on indication, the market is divided into gastroenterology disease, endocrine & metabolism disorders disease, cardiovascular disorders, hematology & oncology disease, and others. The endocrine & metabolism disorders disease segment is expected to hold the largest market share. This is attributed to the high prevalence of rare diseases, and large patient pool.

Based on trait type, the market is divided into inherited and acquired. The inherited segment is expected to witness largest market share. This is attributed to rising world population, unhealthy choices, and sedentary life.

 Based on test type, the market is segmented into genetic tests, general lab tests, diagnostic imaging, and others. The genetic tests segment is expected to witness largest market share. This is attributed to the high adoption in research & clinical settings.

Based on technology, the market is divided into next generation sequencing, whole genome sequencing, whole exome sequencing, microarrays, and others. The next generation sequencing segment is expected to witness largest market share. This is attributed to wide availability and adoption of NGS-based gene panels for cancer, cardiovascular disease, neurologic disease, psychiatric disorders, and other related disease.

Based on sample type, the market is divided into DNA sample, blood sample, saliva sample, and others. The DNA sample segment is expected to witness largest market share. This is attributed to its easier and multiple options to provide it.

Based on end user, the market is divided into hospitals & clinics, academic & research institutes, and others. The academic & research institutions segment is anticipated to grow during the forecast period. This is attributed to basic research which is carried out at academia, and strong scientific and technological knowledge available with academic research laboratories.

Major operating companies operating in global rare disease diagnostics market are:

  • Agilent Technologies, Inc.
  • Illumina, Inc.
  • QIAGEN NV
  • PerkinElmer, Inc
  • Quest Diagnostics, Inc.
  • CENTOGENE N.V.
  • 23andMe, Inc.
  • 3billion, Inc.
  • Eurofins Scientific SE
  • Invitae Corporation


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“North America region dominates the market in 2021 and is expected to maintain its dominance in the coming years due high incidence of rare diseases. The presence of a substantial number of R&D facilities for ultra-rare diseases, presence of a large number of leading players, strongly established research infrastructure, extensive investments in the diagnosis of disease, and the availability of appropriate technology in the region is another key factor.  Also, owing to growing adoption of acquisitions and in the region are expected to propel the global rare disease diagnostics market growth till 2027” said Mr. Karan Chechi, Research Director with TechSci Research, a research based global management consulting firm.

Rare Disease Diagnostics Market - Global Industry Size, Share, Trends, Opportunity, and Forecast, 2017-2027 Segmented By Indication (Gastroenterology Disease, Endocrine & Metabolism Disorders Disease, Cardiovascular Disorders, Hematology & Oncology Disease, Others), By Trait Type (Inherited v/s Acquired), By Test Type (Genetic Tests, General Lab Tests, Diagnostic Imaging, Others), By Technology (Next Generation Sequencing, Whole Genome Sequencing, Whole Exome Sequencing, Microarrays, Others), By Sample Type (DNA Sample, Blood Sample, Saliva Sample, Others), By End User (Hospitals & Clinics, Academic & Research Institutes, Others), By company and By Region”, has evaluated the future growth potential of global rare disease diagnostics market and provides statistics & information on market size, structure, and future market growth. The report intends to provide cutting-edge market intelligence and help decision makers take sound investment decisions. Besides, the report also identifies and analyzes the emerging trends along with essential drivers, challenges, and opportunities in global rare disease diagnostics market.


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