Higher Prevalence of Rare Disorders in Children to Impel Rare Disease Genetic Testing Market Growth

Higher Prevalence of Rare Disorders in Children to Impel Rare Disease Genetic Testing Market Growth

Rare diseases are genetically inherited and difficult to diagnose due to the availability of fewer treatment options. These diseases come under a heterogeneous group of diseases that can be characterized by a wide diversity of symptoms and affects a small percentage of the population. In addition to this, rare diseases are also called those diseases that are ignored or underappreciated by drug companies and the medical community. Misdiagnosis can lead to medical issues that could later be resulted in serious issues for the underlying disorder. Thus, it creates a need for timely and accurate diagnosis for rare conditions that drive significant demand for genetic testing.


The increasing prevalence of rare diseases globally and its consequences have fostered the demand for special treatments, thereby positively influencing the global market for rare disease treatment. In addition to this, the growing patient pool for rare disease cancer, increasing efforts by pharmaceutical companies for manufacturing diagnostic devices, and huge government funding to accelerate research activities are among key factors creating a positive outlook for the market. Furthermore, growing awareness among the global population related to rare diseases coupled with rapid technological advancements in data collection for clinical practices contributing to the substantial growth of the market.


  • The molecular genetic tests segment contributed significant revenue share in the market, on account of rapid advancements in throughput technologies within healthcare settings, resulted in its increased adoption rate. Additionally, these test methods allow investigating short lengths of DNA that help to detect variations or mutations leading to genetic disorders.
  • Accounting for major revenue share, the neurologic disorder segment led the market and is expected to continue the progress in the same manner over the forecast period. The growing prevalence of rare ailments and the availability of genetic testing for neurologic conditions are driving the segmental growth.
  • Research laboratories & CROs segment accounted for the largest share in the market for rare disease genetic testing. A substantial rise in cases of diseases and the collection of blood samples sent to a laboratory to conduct testing is responsible for the exponential growth of the segment.
  • Next-generation sequencing is projected to emerge as a major revenue contributor on account of the increasing usage of whole-exome sequencing. It is considered the highly effective and quickest method to use in situations when it is difficult to identify the genetic cause of disease.
  • The COVID-19 pandemic has posed several challenges to patients, researchers, and healthcare professionals across the globe. FDA is collaborating with manufacturers to come up with advanced treatments to ensure proper patient care with a primary focus on regular clinical trials.
  • North America is anticipated to grow as the largest regional market during the forecast period owing to rising healthcare expenditure fueling the development of research institutions in the region. Increasing government initiatives are further contributing to the substantial growth of the region.


Ongoing research advances in healthcare have created lucrative opportunities for market players to develop solutions that can provide support in the management of rare conditions. Strategic collaborations are taken place among medical domains, scientific domains, and also various stakeholder groups such as patients, researchers, and regulators, thereby contributing to market growth. Arup Laboratories, Color Genomics, Inc., Health Network Laboratories, Opko Health, Inc., Centogene N.V., Invitae Corporation, Myriad Genetics, Inc., Perkin Elmer, Inc., Quest Diagnostics Inc., Coopersurgical, Inc., Strand Life Sciences, Eurofins Scientific, Fulgent Genetics Inc., and 3billion, Inc., are among the list of top players operating in the global rare disease genetic testing market.


Deep-dive Insights on Rare Disease Genetic Testing Market by Polaris Market Research: https://www.polarismarketresearch.com/industry-analysis/rare-disease-genetic-testing-market

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