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Rare Disease Genetic Testing Market

Rare Disease Genetic Testing Market Size, Share, Competitive Landscape and Trend Analysis Report by Disease, by Technology and by End-Users : Global Opportunity Analysis and Industry Forecast, 2023-2032

LS : Diagnostics and Biotech

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Author's: | Roshan Deshmukh
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Owing to the abnormalities in the genomic structure of a person it can lead to various genetic diseases. It usually occurs when the chromosome is damaged or mutations occurring in one or numerous genes at a time, and is usually triggered by factors in the surroundings, which also involves the genes and viruses coming into play. In the past few years, the mechanism of genetic disorders and its significance has increased a lot. Diagnostic methods advances have been very functional in new treatment discovery for various genetic disorders. Effective interventions have been widely instrumental during the development for preventing the onset of different genetic diseases and minimizing the severity of the disease.

Rare Disease Genetic Testing Market

Risk of the genetic disorders has been increasing and leading to the demand for the need for diagnosis and testing. These tests are run by primary caretakers. In the past few years, genetic testing has improved at a substantial rate.

COVID-19 scenario analysis:

Pharmaceutical and biotech companies together with governments around the globe are working to address the COVID-19 outbreak, from supporting the development of vaccines to planning for medicines supply chain challenges. Currently, around 115 vaccine candidates and 155 molecules are in the R&D pipeline. Moreover, commonly used drugs such as Hydroxychloroquine have witnessed a dramatic surge in demand for the management of COVID-19. Such high demand for these drugs has presented huge opportunities for manufacturers of COVID-19 management drugs, as many developed countries are short of these drugs. Owing to the demand for vaccine and treatment drugs for COVID-19, the pharmaceutical and biotechnology industry is expected to witness a significant growth in the future

Owing to such factors, COVID 19 is expected to have a significant impact on the Rare Disease Genetic Testing market.

Top impacting factors: Market Scenario Analysis, Trends, Drivers and Impact Analysis:

During the testing, misdiagnosis can lead to interceding and can even cause inappropriate underlying genetic disorder. Timely and accurate diagnosis is required for the detection of rare conditions is creating demand for genetic testing. 

At the moment there has been a scarcity observed in the awareness in regards to the current conditions is one of the biggest challenges for the market. Various efforts have been implemented for creating awareness for the various characteristics of both the ultra-rare as well as rare diseases.

There has also been an increase in the number of registries available which helps in enabling the pool data for getting the sample size for clinical or epidemiological research. Additionally, upgrades in the data collection technology and clinical practice interpretation are helping the market growth.

New product launches and acquisitions to flourish the market:

On February 7th, 2020, Dante Labs took up a new initiative which allowed the patients which full WGS who suffered from rare diseases at the price of US$299.

On January 22nd, 2020, Blueprint Genetics was acquired by Quest Diagnostics which helped in magnify their expertise in rare diseases and genetic disorders.

On June 5th, 2018, Centogene introduced their diagnostic laboratory in Cambridge, Massachusetts.

Surge in usage in Research Laboratories & CRO and hospitals applications:

Research laboratories, CROs, hospitals, Diagnostic Laboratories, and clinics are the major end-users of the rare disease genetic testing market. Laboratories provide various counseling services for the genetic testing.

Key benefits of the report:

  • This study presents the analytical depiction of the global Rare Disease Genetic Testing industry along with the current trends and future estimations to determine the imminent investment pockets.
  • The report presents information related to key drivers, restraints, and opportunities along with detailed analysis of the global Rare Disease Genetic Testing market share.
  • The current market is quantitatively analyzed to highlight the global market growth scenario.
  • Porter’s five forces analysis illustrates the potency of buyers & suppliers in the market.
  • The report provides a detailed global Rare Disease Genetic Testing market analysis based on competitive intensity and how the competition will take shape in coming years.

Questions answered in the Rare Disease Genetic Testing Market research report:

  • What are the leading market players active in the Rare Disease Genetic Testing market?
  • What the current trends will influence the market in the next few years?
  • What are the driving factors, restraints, and opportunities in the rare disease genetic testing market?
  • What are the projections for the future that would help in taking further strategic steps?

Rare Disease Genetic Testing Market Report Highlights

Aspects Details
By Disease
  • Neurological Disorders
  • Immunological Disorders
  • Hematology Diseases
  • Endocrine & Metabolism Diseases
  • Cancer Musculoskeletal Disorders
  • Cardiovascular Disorders (CVDs)
  • Dermatology Disease
  • Others
By Technology
  • Next-Generation Sequencing (NGS)
    • Whole Exome Sequencing (WES)
    • Whole Genome Sequencing (WGS)
  • Array Technology
  • PCR-based Testing
  • FISH
  • Sanger Sequencing
  • Karyotyping
By End-Users
  • Research Laboratories and CROs
  • Diagnostic Laboratories
  • Hospitals and Clinics
By Region
  • North America  (U.S., Canada, Mexico)
  • Europe  (France, Germany, Italy, Spain, UK, Rest of Europe)
  • Asia-Pacific  (China, Japan, India, South Korea, Australia, Rest of Asia-Pacific)
  • LAMEA  (Brazil, South Africa, Saudi Arabia, Rest of LAMEA)
Key Market Players

Invitae Corporation, Baylor Genetics, Macrogen, Inc., Perkin Elmer, Inc., Eurofins Scientific, Quest Diagnostics Inc, Centogene N.V, Ambry Genetics, Arup Laboratories, Strand Life Sciences

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Rare Disease Genetic Testing Market

Global Opportunity Analysis and Industry Forecast, 2023-2032