Global Rare Disease Genetic Testing Market Report 2020-2027: Growing Need for On-time Diagnosis of Uncommon Disorders


Dublin, March 01, 2021 (GLOBE NEWSWIRE) -- The "Rare Disease Genetic Testing Market Share, Size, Trends, Industry Analysis Report, By Disease Type; By Technology; By Specialty; By End-Use; By Regions; Segment Forecast, 2020-2027" report has been added to's offering.

The global rare disease genetic testing market size is expected to reach USD 1.8 Billion by 2027

The growing need for on-time diagnosis of uncommon disorders, rising prevalence of rare disorders, innovations in genomic testing, and the focused approach of the market player's in cost-effective treatments are the key factors responsible for market growth.

Moreover, 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.

The global rare disease genetic testing industry is fragmented based on disease type, technology, specialty, end-use, and region. In terms of disease type, the market is segmented into neurological disorders, immunological disorders, hematology illnesses, endocrine & metabolism ailments, cancer, musculoskeletal disorders, cardiovascular disorders, dermatology illnesses, and others.

Based on technology, the rare disease genetic testing industry is further bifurcated into next-generation sequencing, array technology, PCR-based testing, FISH, sanger sequencing, and karyotyping. Based on specialty, the rare disease genetic testing industry is further bifurcated into molecular, chromosomal, and biochemical genomic tests. Based on end-use, the rare disease genomic testing industry is further bifurcated into research laboratories & CROs, hospitals & clinics, and diagnostic laboratories.

Segment Highlights

  • Neurological ailments accounted for the largest revenue share in 2019 on account of the increasing prevalence of neurologic disorders across the globe and presence of numerous testing techniques.
  • Based on technology, the next generation sequencing segment is projected to constitute almost half of the market in 2027. The usage of the technology in whole genome sequencing is the key factor responsible for its segment's growth.
  • Molecular tests are expected to account for the highest revenue share by the end of 2027. The availability of advanced technologies and ability to test ultra-rare disorders is expected to drive market growth.
  • Research laboratories & CROs accounted for the largest revenue share in 2019 owing to the increasing number of tests and growing occurrence of rare disorders across the developed economies.

List of Key Players

  • Strand Life Sciences
  • Myriad Genetics
  • Quest Diagnostics Inc.
  • Centogene N.V.
  • Invitae Corporation
  • Baylor Genetics
  • Ambry Genetics
  • Macrogen, Inc.
  • Opko Health, Inc.
  • Color Genomics, Inc.
  • Health Network Laboratories
  • Preventiongenetics, Progenity, Inc.
  • Fulgent Genetics Inc.

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