Press Release

Global Rare Disease Testing Market to Grow at a CAGR of around 9.29% Through 2026

According to a new study by MarkNtel Advisors, the Global Rare Disease Testing Market is expected to grow at a CAGR of around 9.29% during 2021-26. Rare diseases are complex, owing to which each country has developed its definition in context to rare diseases based on population. These diseases are grouped into categories based on a specific body system. 

The market is driven primarily by the commercialization of Complete Genome and Complete Exome Sequencing technologies. Additionally, the surging understanding of the molecular basis of diseases and patient demand also drives the market.

Rare diseases comprise 6000-7000 life-threatening diseases that affect a small percentage of the population. Earlier, pharmaceutical companies were less interested in developing any treatment for them. Hence, the US FDA started offering rare disease drug designation to drug candidates intended to treat such diseases.

Additionally, the burgeoning patient pool for rare diseases and a surge in government funding to encourage research in rare diseases are also expected to boost the market. However, certain factors like lack of awareness and long diagnostic delays might restrain the market growth during 2021-26, further states the research report, “Global Rare Disease Testing Market Analysis, 2021.”

As per the research report, the Global Rare Disease Testing Market, based on the Technology, bifurcates into:

• Next-Generation Sequencing (NGS)
• Complete Genome
• Complete Exome
• Micro Arrays.

The use of Complete Genome & Complete Exome Sequencing is rapidly evolving owing to the high resolution & accuracy. They are used across several applications, including oncology, rare & infectious disease diagnostics, reproductive health, etc., and help determine changes in the expression levels of crucial genes in the disease.

Moreover, they have extensive use in healthcare & research labs to recognize genetic variations. Both methods depend on new technologies that allow the rapid sequencing of massive amounts of DNA.

“Global Rare Disease Testing Market Analysis, 2021” highlights insights on the market potential & opportunities, along with business strategies to enhance the overall market growth. The report offers an overview of leading market players and their recent developments. Moreover, the report provides incredible market opportunities & emerging trends to help stakeholders make appropriate decisions before investing.

North America Acquired the Largest Share of the Global Rare Disease Testing Market

Within North America, the US, followed by Canada, is the largest contributor to the market growth. Various established rare disease testing manufacturers are actively focusing on expanding their portfolio in WGS and WES-based assays and kits, which, in turn, boosts the regional market. Additionally, the large number of R&D facilities for rare diseases and substantial investments toward diagnosing rare disorders in the region are other crucial aspects that fuel the market growth in North America.

Key Questions Answered in the Study

1. What are the current & future trends in the Global Rare Disease Testing Market?
2. How has the industry been evolving in terms of geography & service adoption?
3. How has the competition been shaping across the globe, followed by their comparative factorial indexing?
4. What are the key growth drivers & challenges for the Global Rare Disease Testing Market?
5. What are the customer orientation, purchase behavior, and expectations from rare disease testing providers across the globe?

According to MarkNtel Advisors, the key leaders in the Global Rare Disease Testing Market 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, and OPKO Health, Inc.

Market Segmentation:

1. By Type (Cardiovascular, Ophthalmological, Neurological, Oncological, Hematological, Endocrine and Metabolism, Gastroenterologist)
2. By Acquisition (Genetic, Externally Acquired)
3. By Technology (Next Generation Sequencing, Complete Genome, Complete Exome, Micro Arrays)
4. By Age Group (0-15 yrs., 16-30 yrs., 31-45 yrs.)
5. By Product (Kits & Assays, Panels)
6. By End User (Hospitals, Diagnostics Laboratories, Clinical Laboratories, Contract Research Organizations)
7. By Region (North America, South America, Europe, Middle East & Africa, Asia Pacific)
8. By Country (The US, Canada, Mexico, Brazil, Argentina, The UK, Germany, France, Italy, Spain, Israel, GCC, China, India, Japan, Australia, Singapore)
9. By Company (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)