The genetic testing market for rare diseases is expected to grow at a CAGR of 8.30% during the forecast period

Genetic testing market for rare diseases

Genetic testing is a diagnostic tool that helps not only to identify specific pathological manifestations but also to identify 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 determining treatment options, including clinical trials. Genetic testing has a wide range of applications, 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 significance of the test. Rare disease refers to a condition, disorder, or disease that affects a small percentage of the population at any one time. For example, in the European Union, it affects less than 1 in 2,000 individuals, in the United States, a rare disease is defined as a disease that affects less than 200,000 individuals.

Data Bridge data market research analyzes that Genetic testing market for rare diseases Which was US$ 785.8 Million in 2021, is expected to reach US$ 1982.04 Million by 2029, at a CAGR of 12.26% during the forecast period 2022 to 2029. In addition to the insights about market scenarios such as market value, growth rate, Segmentation, geographical coverage, and major players, market reports curated by Data Bridge Market Research also include in-depth expert analysis, patient epidemiology, pipeline analysis, pricing analysis, and regulatory framework.

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Some of the major players operating in the genetic testing for rare diseases market are:

  • Quest Dynostics Incorporated (USA)
  • Centogene NV (Germany)
  • Strand Life Science (Bengaluru)
  • Ambry Genetics (USA)
  • PerkinElmer, Inc. (United State)
  • Macrogen, Inc. (South Korea)
  • Baylor Genetics (USA)
  • HNL Laboratory Medicine (USA)
  • Preventive Genetics (USA)
  • 3billion, Inc. (South Korea)
  • Arup Labs (USA)
  • HNL Laboratory Medicine (USA)
  • Preventive Genetics (USA)
  • Invitae Corporation (USA)
  • Eurofins Scientific (Luxembourg)
  • Strand Life Science (India)
  • Realm IDX, Inc. (China)
  • Myriad Genetics, Inc. (United State)
  • America Laboratories Holding Company (USA)
  • Opko Health, Inc. (United State)

Global genetic testing market dynamics for rare diseases


  • The use of genetic testing in research laboratories

Genetic testing is used in laboratory testing research laboratories to look for differences in an individual’s DNA, usually in the context of medical care, pedigree studies, or forensics. Genetic test results can be used in a medical setting to confirm the presence of a suspected genetic disease. Genetic testing is the use of a laboratory test to check an individual’s DNA for differences, and is usually performed in the context of ancestral, forensic, and medical studies. These are all certain factors that drive market growth.

  • Rise in diagnostic tests

Diagnostic testing is used to identify a specific genetic or chromosomal condition. In many cases, genetic testing is used to confirm the diagnosis when a particular condition is suspected based on physical signs and symptoms. Although revealing the genetic cause of a condition may not directly affect treatment options, it will provide doctors and families with useful information. For example, doctors can combine genetic testing with existing clinical and biochemical analyzes to confirm an accurate diagnosis of a disease. These are the factors that promote market growth.


The Canadian Organization for Rare Disorders (CORD) provides a powerful platform to streamline health policy and a healthcare system dedicated to managing patients with disorders. The agency works with clinicians, researchers, governments, and the diagnostic industry to advance the research and development, diagnosis, treatment, and service availability of all rare conditions in the country. According to the National Institutes of Health (NIH), nearly 30 million Americans have been diagnosed with one of more than 7,000 known rare diseases. With increased awareness, the number of patients being tested for the disease is expected to rise in the coming years.

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Global Rare Disease Genetic Testing Market Scope

The genetic testing market for rare diseases is segmented on the basis of disease type, technology, specialty, and end user. The growth among these segments will help you to analyze the under-developed growth segments of the industries and provide users with valuable market overview and market insights to help them make strategic decisions to identify key market applications.

The type of disease

  • Neurological disorders
  • immune disorders
  • Blood diseases
  • Endocrine
  • metabolic diseases
  • cancer
  • musculoskeletal disorders
  • Cardiovascular disorders (CVDs)
  • Skin Disease
  • Aharon


  • Next Generation Sequencing (NGS)
  • full exome sequencing
  • Whole genome sequencing
  • Matrix Technology
  • PCR based test
  • fish
  • Sanger sequence
  • karyotyping


  • Molecular genetic testing
  • Genetic testing of chromosomes
  • biochemical genetic testing

end use

  • research laboratories
  • CROS
  • Diagnostic centers
  • Hospitals
  • clinics

Regional Analysis/Insights for Rare Diseases in Genetic Testing Market

The Genetic Testing for Rare Diseases market is analyzed and market size insights and trends are provided by country, disease type, technology, specialty and end user as indicated above. Countries covered in Rare Disease Genetic Testing Market Report are United States, Canada, Mexico in North America, Germany, France, United Kingdom, Netherlands, Switzerland, Belgium, Russia, Italy, Spain, Turkey, Rest of Europe, China, Japan, India, South Korea, Singapore, Malaysia, Australia, Thailand, Indonesia, Philippines, Rest of Asia Pacific (APAC) In the Asia-Pacific region (APAC), Saudi Arabia, the United Arab Emirates, South Africa, Egypt, Israel, the rest of the Middle East, the Middle East and Africa (MEA) as part of the Middle East and Africa (MEA), Brazil, Argentina, and the rest of South America as part of South America.

North America dominates the genetic testing market for rare diseases due to the large number of registries of rare disorders and the presence of large numbers of research and development activities for rare and very rare diseases. The Asia Pacific region is expected to grow at the highest growth rate in the forecast period from 2022 to 2029 due to the increased awareness and target population of a particular region.

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The country section of the report also provides the individual factors influencing the market and the changes in the organization in the market locally that influence the current and future trends of the market. Data points such as upstream and downstream value chain analysis, technical trends and Porter’s Five Forces analysis, and case studies are some of the indicators used to forecast the market scenario for each individual country. Also, the presence and availability of global brands and the challenges they face due to significant or scarce competition from local and local brands, the impact of local tariffs and trade routes while providing predictive analysis of country data are considered.

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