Rare Disease Genetic Testing Market Sales are Expected to Rise at a CAGR of 9.7% to Reach US$ 2.5 billion by 2030


PUNE, India, July 09, 2021 (GLOBE NEWSWIRE) -- The Global Rare Disease Genetic Testing Market Share, Trends, Analysis and Forecasts, 2020-2030 provides insights on key developments, business strategies, research & development activities, supply chain analysis, competitive landscape, and market composition analysis.

Rare disease genetic testing market size was estimated to be US$ 900 million in 2020 and is expected to reach US$ 2.5 billion by 2030 at a CAGR of 9.7%. The rare disease not just affects the existences of few individuals, dispersed across the globe, yet the quantity of individuals affected straightforwardly, accounted, comparable to the world's third crowded country. Genetic testing is a high-level analytic apparatus that not just assists with recognizing the specific disease appearances yet in addition decide the hidden reasons for genetic issues.

Genetic testing offers different advantages including affirming a conclusion, understanding the reason for unexplained indications, and recognizing treatment choices including clinical preliminaries. Under diagnosis of a rare disease is frequent and may go for stretched out periods because of the restricted consciousness of patients, families, and doctors as they would have never experienced one.

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Growth driving factors of Rare Disease Genetic Testing Market

The rise in the number of available registries is one of the major driving factors of the market as it enables pool data to achieve a sufficient sample size for epidemiological and/or clinical research. Furthermore, technological advancements in data collection and interpretation for clinical practice has driven the market. Companies are making efforts to ensure efficient data collection from various ethnicities, which is expected to aid in the diagnosis of thousands of patients with the same condition.

In addition, companies, such as Centogene, combine genetic testing with metabolomics and proteomics to make their data analysis process as accurate as possible. The multi-omics approach helps better understand the impact of a given mutation on the protein as well as at the metabolite level. The company has also introduced a system to simplify the sample collection process, thereby driving the adoption of genetic tests for rare disease diagnosis. Most of these diseases affect children which adds to the complexity of the process.

Government-sponsored schemes are also expected to positively impact the market. In February 2020, the government of India announced financial assistance of INR 15 lacs to the patients suffering from uncommon ailments under the Rashtriya Arogaya Nidhi scheme for a one-time treatment.

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Most of the genetic testing administrations have embraced virtualization, alongside home testing unit/home example assortment, to battle the transmission of the SARS-CoV2 infection. Nonetheless, as per the exploration article distributed in the Diary of Clinical Genetics 2020, there was impediment revealed in getting to genetic testing blood draws, because of which the genetic testing was immensely affected, wherein a decrease in genetic testing was seen during the virtual consideration time frame. Henceforth, Corona virus is required to in a roundabout way affect the genetic testing market over the progressing emergency period.

Lack of awareness of diagnosis and challenges associated with clinical studies will inhibit the growth of the market.

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The leading market segments of Rare Disease Genetic Testing Market

A considerable number of economically affirmed genetic tests for neurologic conditions combined with a high predominance of neurological diseases has sped up the income growth in this fragment. Tests offered by organizations are suggested by a few clinical foundations, like the American Institute of Nervous system science, American School of Clinical Genetics, and Kid Nervous system science Society.

Exome sequencing and entire genome sequencing have helped in tending to confound instances of X-ALD that present an abnormal disease course.

Besides, immunologic problems, like Different Sclerosis (MS), are among the most predominant rare diseases. The genetic profile of MS is one of the key center regions among analysts in this field. This is principally to acquire applicable experiences relating to the causes and hidden physiology of diseases, bringing about a critical portion of this section.

The appropriation of direct-to-customer genetic testing packs in nations, like the US, China, and Japan, is developing quickly. With expanding mechanical appropriations, mindfulness programs, and a decrease in costs, the market for DTC-GT (Direct-to-buyer genetic testing) packs is probably going to observe a critical lift over the estimate time frame. Also, the undiscovered nations, like India and other non-industrial nations, are relied upon to offer a worthwhile chance for players hoping to build up their base in the genetic testing market.

Asia Pacific is relied upon to enroll the quickest CAGR from 2020 to 2027 because of rising mindfulness and target populace in Asian nations. China is endeavoring to move the consideration of the medical care framework towards the finding and therapy of rare problems.

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The key players of the Rare Disease Genetic Testing Market are

Quest Diagnostics Inc., Centogene N.V., Invitae Corporation, 3billion, Inc., Arup Laboratories, Eurofins Scientific, Strand Life Sciences, Ambry Genetics, Perkin Elmer, Inc., Macrogen, Inc., Baylor Genetics, Color Genomics, Inc., Health Network Laboratories, Preventiongenetics, Progenity, Inc., Coopersurgical, Inc., Fulgent Genetics Inc., Myriad Genetics, Inc., Laboratory Corporation of America Holdings, Opko Health, Inc.

Segmentation: Rare Disease Genetic Testing Market

By Disease Type

  • 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 Specialty

  • Molecular Genetic Tests
  • Chromosomal Genetic Tests
  • Biochemical Genetic Tests

By End User

  • Research Laboratories & CROs
  • Diagnostic Laboratories
  • Hospitals & Clinics

By Region

  • North America
    • The U.S.
    • Canada
    • Rest of North America
  • Europe
    • Germany
    • The U.K.
    • France
    • Italy
    • Rest of Europe
  • Asia Pacific
    • China
    • India
    • Japan
    • Australia
    • Rest of APAC
  • South America
    • Brazil
    • Rest of South America
  • Middle East & Africa
    • UAE
    • Saudi Arabia
    • Rest of MEA

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