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Global rare disease genetic testing market was valued at $821.4 million in 2020 with a CAGR of 11.1% from 2021 to 2027

09-06-2021 11:23 AM CET | Health & Medicine


Global Rare Disease Genetic Testing Market Report 2021 by Key Players, Types, Applications, Countries, Market Size, Forecast to 2027 (Based on 2020 COVID-19 Worldwide Spread)

Rare disease genetic testing screens all genes known to cause human disease. About 6000 genes are reported to be clinically relevant. The genetic tests are focused on analysis of specific genes, depending on which possible genetic diagnoses are suspected.

Note – In order to provide more accurate market forecast, all our reports will be updated before delivery by considering the impact of COVID-19.

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Top key players @ Fulgent Genetics Inc., CooperSurgical, Inc., Centogene, Quest Diagnostics Incorporated, Myriad Genetics, Inc., Genesis Genetics, Progenity, Inc., PreventionGenetics, Laboratory Corporation of America Holdings, Invitae Corporation, Sequenom, Counsyl, Inc., GeneDx, Connective Tissue Gene Tests, Bio-Reference Laboratories, ARUP Laboratories, Macrogen, Inc., Eurofins Scientific, PerkinElmer Genomics, 3billion, Inc., Ambry Genetics, Strand Life Sciences, OPKO Health, Inc., Color Genomics, Inc., and Baylor Genetics

Rising incidence of rare diseases is boosting the market growth. For instance, according to the World Health Organization (WHO), over 400 million people are living with one or more of 6,000 identified rare diseases around the world. Rare diseases affect 3.5% to 5.9% of the worldwide population. According to the Genetic and Rare Diseases Information Center, 1 in 10 American, which is 30 million people suffer for some kind of rare disease. 50% of people affected by rare diseases are children. According to the European Commission, approximately 5,000-8,000 distinct rare diseases affect 6% to 8% of the EU population, which is between 27 and 36 million people. In 2019, 70 million people in India are affected by rare diseases. According to the Australians Department of Health, around 8% of Australians, which is 2 million people live with a rare disease. About 80% of rare diseases are genetic in Australia. Further, innovative technologies for rare disease genetic testing is a key driving factor of the market.

Whole Exome Sequencing (WES), Whole Genome Sequencing (WGS), Array Technology, PCR-based Testing, Sanger Sequencing, FISH, and Karyotyping is the technology segment of the market scope. By disease type the market is divided into Neurological Disorders, Immunological Disorders, Cancer, Hematology Diseases, Cardiovascular Disorders (CVDs), Endocrine & Metabolism Diseases, Musculoskeletal Disorders, Dermatology Disease, and Others. By specialty the market is further divided into Molecular Genetic Tests, Chromosomal Genetic Tests, and Biochemical Genetic Tests. By end user the global Rare Disease Genetic Testing market is divided as Research Laboratories & CROs, Diagnostic Laboratories, and Hospitals & Clinics. The report covers value of the global market by technology, disease type, specialty, and end user.

Based in technology, Whole Exome Sequencing (WES) has shown significant growth in 2020, owing to the increasing studies for whole exome sequencing (WES), rising awareness for rare disease genetic testing, and commercialization of service for whole exome sequencing (WES).

1 Report Overview
2 Global Growth Trends
3 Market Share by Key Players
4 Breakdown Data by Type and Application
5 United States
6 Europe
7 China
8 Japan
9 Southeast Asia
10 India
11 Central & South America
12 International Players Profiles
13 Market Forecasts 2019-2025
14 Analyst’s Viewpoints/Conclusions
15 Appendix

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Infinity Business Insights is a market research company that offers market and business research intelligence all around the world. We are specialized in offering the services in various industry verticals to recognize their highest-value chance, address their most analytical challenges, and alter their work.

We attain particular and niche demand of the industry while stabilize the quantum of standard with specified time and trace crucial movement at both the domestic and universal levels. The particular products and services provided by Infinity Business Insights cover vital technological, scientific and economic developments in industrial, pharmaceutical and high technology companies.

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