The Global Rare Disease Testing Market is expected to grow at a CAGR of around 9.29% in the forecast period of 2021-26, says MarkNtel Advisors in their research report. The market is driven principally by the burgeoning demand for gene therapeutics in the pharmaceutical & biotechnology industries and the increasing adoption of genome editing in academic institutes & research organizations to attain specific diagnostic efficient therapeutics.

The number of people affected by rare diseases is more than AIDS & Cancer combined patients. The occurrence distribution curve of rare diseases is skewed, with approximately 80% of such patients are impacted by around 350 rare diseases. Hence, the mounting number of rare diseases, leading to the surging demand for rare disease testing modalities & services, accelerates the overall market growth.

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Age Group: 0-15 years is Highly Susceptible to Rare Diseases

Rare diseases mostly affect children, and the majority of them have a genetic cause. Around eighty percent of rare diseases are genetic and children account for 50.00% of them. According to the Canadian Organization of Rare Diseases, 2/3 of Canadians suffering from rare diseases are children. Thirty percent of children with rare diseases are less likely to reach their fifth birthday.

Genomic technologies have a great impact on pediatrics. The use of whole-genome sequencing and whole-exome sequencing has good diagnostic power, but sometimes it is not specific and leads to false results. The specific genetic diagnosis may benefit a child by enabling a better understanding. In the future, it is expected that the association of big data, data storage may extend beyond the scope of the initial investigation.

“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.

The US Leads the Global Rare Disease Testing Market

In 2020, the United States attained the largest share of the Rare Disease Testing Market, and the same trend is likely to be followed in the coming future. Diagnostic test approval is based primarily upon the identification of genetic variants from biological samples. Further, factors like the rising geriatric population and the increasing prevalence of chronic diseases, including cancer, infectious diseases, and cardiovascular diseases, have remarkably promoted the adoption of NGS (Next-Generation Sequencing) in the field of diagnostic tests & routine healthcare regimes. These factors have significantly contributed to the revenue of the US market.

In addition, the constant technological advancements, such as WGS-based genotyping services and direct-to-consumer testing services, have incredibly revolutionized the whole genome and exome sequencing industry, further bolstered by the optimization of multiplexing capabilities. Some of the leading manufacturers in the US market include Illumina Inc., Myriad Genetics Inc., Genomic Health, Inc., and Thermo Fisher Scientific Inc.

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)