Rare Disease Genetic Testing Market Share, Size, Demand, Key Players by Forecast 2032

The global rare disease genetic testing market size was valued at USD 785.8 million in 2021 and is expected to grow at a compound annual growth rate (CAGR) of 13.94% from 2023 to 2032. Technology advancements like NGS and microarray are important market drivers. The decrease in sequencing costs has raised awareness of the need to test for uncommon diseases. Additionally, the market is anticipated to expand as a result of the growing desire for early and quick diagnoses. Additionally, it is anticipated that the crucial role that translational research and genomic technologies will play in improving the analysis and detection of novel mutations will support the industry's expansion. The use of genetic testing in illness diagnostics is predicted to experience rapid expansion during the projection period as a result of increased translational research activity in this field.

Rare Disease Genetic Testing Market Analysis and Size
A form of medical examination known as genetic testing looks for abnormalities to genes, chromosomes, or proteins. The findings of a genetic test can confirm a genetic problem that has been suspected or they can help determine a person's risk of contracting or passing on a genetic disorder. The majority of tests are used to identify rare genetic illnesses including Fragile X Syndrome and Duchenne muscular dystrophy. A blood sample, a sample of amniotic fluid (the fluid that surrounds a foetus during pregnancy), or other tissue may be subjected to genetic testing. Newborns that are subjected to genetic screening testing have a little blood sample taken from their heel.
The market for genetic testing for rare diseases, which was worth USD 785.8 million in 2021, is anticipated to grow to USD 1982.04 million by 2029, with a forecasted CAGR of 12.26% from 2022 to 2029. The market reports compiled also include in-depth expert analysis, patient epidemiology, pipeline analysis, pricing analysis, and regulatory framework. These insights on market scenarios include market value, growth rate, segmentation, geographic coverage, and major players.

Scope of the Report
In accordance with this definition, a rare disease is one that affects no more than 5 people out of every 10,000. The majority of uncommon diseases are genetic problems, and genetic testing is a sophisticated diagnostic method with quick findings. Additionally, genetic testing has increased the likelihood of identifying the genes causing rare disorders. The market for rare disease genetic testing is divided into categories based on technology (next-generation sequencing, array technology, PCR-based testing, FISH, and other technologies), disease (cancer, endocrine and metabolism diseases, musculoskeletal disorders, and other diseases), end user (clinics/hospitals, diagnostic laboratories, and other end users), and geography (North America, Europe, Asia-Pacific, and rest of the world). The report provides the value for the aforementioned segments (in USD million).

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Market Segmentations:
Global Rare Disease Genetic Testing Market: Major Players
Myriad Genetics, Inc.
3billion, Inc.
CooperSurgical, Inc.
PerkinElmer Genomics
Eurofins Scientific
Ambry Genetics
Color Genomics, Inc.
Macrogen, Inc.
GeneDx
Laboratory Corporation of America Holdings
Sequenom
ARUP Laboratories
OPKO Health, Inc.
Bio-Reference Laboratories
PreventionGenetics
Strand Life Sciences
Baylor Genetics
Progenity, Inc.
Fulgent Genetics Inc.
Counsyl, Inc.
Invitae Corporation
Genesis Genetics
Connective Tissue Gene Tests
Quest Diagnostics Incorporated
Centogene

Global Rare Disease Genetic Testing Market: Types
Neurologic Diseases
Immunologic Disorders
Hematology Diseases
Endocrine & Metabolism Diseases
Cancer
Musculoskeletal Disorders
Cardiovascular Disorders (CVD)
Dermatology Diseases
Other Rare Diseases

Global Rare Disease Genetic Testing Market: Applications
Research Laboratories & CROs
Diagnostic Laboratories
Hospitals & Clinics

Global Rare Disease Genetic Testing Market: Regional Analysis
All the regional segmentation has been studied based on recent and future trends, and the market is forecasted throughout the prediction period. The countries covered in the regional analysis of the Global Rare Disease Genetic Testing market report are U.S., Canada, and Mexico in North America, Germany, France, U.K., Russia, Italy, Spain, Turkey, Netherlands, Switzerland, Belgium, and Rest of Europe in Europe, Singapore, Malaysia, Australia, Thailand, Indonesia, Philippines, China, Japan, India, South Korea, 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), and Argentina, Brazil, and Rest of South America as part of South America.

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The COVID-19 pandemic has had a major effect on the market for genetic testing for uncommon diseases. The growth in COVID-19 cases has caused international healthcare systems to redirect their resources away from rare disease patients and toward COVID-19 care. According to the Eurordis International Survey, patients with uncommon diseases appeared to view the pandemic more negatively than patients with chronic diseases. Eighty percent of the participants in the study had their visits cancelled or postponed, and sixty percent had their therapy interrupted. The inability to obtain healthcare will undoubtedly make it more challenging to diagnose suspected rare diseases.

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Frequently Asked Questions About This Report
1. How big is the rare disease genetic testing market?
2. What is the rare disease genetic testing market growth?
3. Which technology accounted for the largest rare disease genetic testing market share?
4. Who are the key players in the rare disease genetic testing market?
5. What are the factors driving the rare disease genetic testing market?

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