Rare Disease Genetic Testing Market Analysis by Data Bridge Market Research

Global Rare Disease Genetic Testing Market which was USD 785.8 million in 2021, is expected to reach USD 1982.04 million by 2029, at a CAGR of 12.26% during the forecast period 2022 to 2029. In addition to the insights on market scenarios such as market value, growth rate, segmentation, geographical coverage, and major players, the market reports curated by the Data Bridge Market Research also include depth expert analysis, patient epidemiology, pipeline analysis, pricing analysis, and regulatory framework.
Rare Disease Genetic Testing Market Analysis and Size
Genetic testing is a type of medical test that detects changes in genes, chromosomes or proteins. A genetic test's results can confirm after suspected genetic condition or they can help determine a person's risk of developing or passing on a genetic disorder. Most tests are used to diagnose rare genetic disorders, such as Duchenne Muscular Dystrophy and Fragile X Syndrome. Genetic tests are performed on a blood sample, amniotic fluid (the fluid that surrounds a foetus during pregnancy), or other tissue. In case of newborns, genetic screening tests are done on a small blood sample obtained by pricking the baby's heel.
Market Definition
Genetic testing is a diagnostic tool that not only aids in the identification of specific disease manifestations but also in determining the underlying causes of genetic disorders. Genetic testing has a variety of advantages such as confirming a diagnosis, determining the cause of unexplained symptoms, and identifying treatment options, including clinical trials. Genetic testing refers to a wide range of applications, ranging from family history collection and evaluation to whole genome screening. Each test has its own set of advantages and disadvantages based on the technology used and the indication for the test.

COVID-19 Impact on the Rare Disease Genetic Testing Market
Patients with undiagnosed and rare diseases have faced significant health challenges as a result of the COVID-19 pandemic. According to a study published in January 2021 by a group of researchers from the United States, there is an urgent need for the development of approaches that can reduce the serious challenges faced by patients and families with rare and undiagnosed diseases. The difficulties include diagnostic or prognostic uncertainty, as well as medical complexity, which leads to poor health outcomes. Furthermore, the COVID-19 pandemic had an impact on clinical trials focusing on rare diseases. Clinical trials have faced several challenges as a result of the pandemic.
Competitive Landscape and Rare Disease Genetic Testing Market Share Analysis
Some of the major players operating in the rare disease genetic testing market are:
• Quest Diagnostics Incorporated (U.S.)
• Centogene N.V. (Germany)
• Strand Life Sciences (Bengaluru)
• Ambry Genetics (U.S.)
• PerkinElmer, Inc. (U.S.)
• Macrogen, Inc. (South Korea)
• Baylor Genetics (U.S.)
• HNL Lab Medicine (U.S.)
• Preventiongenetics (U.S.)
• 3billion, Inc. (South Korea)
• Arup Laboratories (U.S.)
• HNL Lab Medicine (U.S.)
• Preventiongenetics (U.S.)
• Invitae Corporation (U.S.)
• Eurofins Scientific (Luxembourg)

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Rare Disease Genetic Testing Market Regional Analysis/Insights
The rare disease genetic testing market is analysed and market size insights and trends are provided by country, disease type, technology, speciality, end-user as referenced above.
The countries covered in the rare disease genetic testing market report are U.S., Canada and Mexico in North America, Germany, France, U.K., Netherlands, Switzerland, Belgium, Russia, Italy, Spain, Turkey, Rest of Europe in Europe, China, Japan, India, South Korea, Singapore, Malaysia, Australia, Thailand, Indonesia, Philippines, Rest of Asia-Pacific (APAC) in the Asia-Pacific (APAC), Saudi Arabia, U.A.E, South Africa, Egypt, Israel, Rest of Middle East and Africa (MEA) as a part of Middle East and Africa (MEA), Brazil, Argentina and Rest of South America as part of South America.

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Major TOC of the Report
1 INTRODUCTION
2 MARKET SEGMENTATION
3 EXECUTIVE SUMMARY
4 PREMIUM INSIGHTS
5 MARKET OVERVIEW

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