Rare Disease Genetic Testing: Introduction

  • More than 7000 types of rare diseases affect more than 30 million people in the U.S. alone. Approximately 80% of the rare diseases are found to be genetic.
  • Genetic testing is an advanced diagnostic tool that not only helps to identify the exact disease manifestations but also determine the underlying causes of genetic disorders
  • Genetic testing offers various benefits including confirming a diagnosis, understanding the cause of unexplained symptoms, and identifying treatment options including clinical trials

Key Drivers and Restraints of Global Rare Disease Genetic Testing Market

  • Growth of molecular biology has transformed the diagnosis and treatment of diseases. Modern test methods, based on the detection of DNA and RNA, offer several advantages over traditional methods for the detection of diseases. New procedures can detect viruses, bacteria, and genetic variations faster and much more accurately.
  • New innovative technologies such as RT-PCR and sequencing are available in the market, which provide a comparatively less expensive method of diagnosis, prognosis, and therapy selection in patients throughout their treatment plan. This helps physicians to frame appropriate therapeutic regimes for patients suffering from disease.
  • Thus, continuous improvement in the technology is expected to drive the global rare disease genetic testing market during the forecast period
  • Prevalence of autoimmune disease throughout modern societies has been increasing at a steady pace for the last few decades
  • According to Autoimmunity Reviews, autoimmune diseases are a leading cause of death in the U.S. among young and middle aged people
  • For instance, according to International Journal of Recent Scientific Research, the incidence of celiac diseases has increased in countries such as Scotland and Canada in the last 60 years
  • Thus an increase in the incidence of these diseases is a key factor that is estimated to propel the global rare disease genetic testing market during the forecast period

Next-generation Sequencing to Offer Lucrative Growth Opportunities

  • The global rare disease genetic testing market can be segmented based on technology, specialty, indication, end-user, and region
  • In terms of technology, the global rare disease genetic testing market can be classified into next generation sequencing (whole exome sequencing and whole genome sequencing), array technology, PCR - based testing, FISH, sanger sequencing, and karyotyping
  • Based on specialty, the market can be segmented into molecular genetic tests, chromosomal genetic tests, and biochemical genetic tests. In terms of indication, the global rare disease genetic testing market can be segmented into neurological disorders, immunological disorders, hematology diseases, endocrine & metabolism diseases, cancer, musculoskeletal disorders, cardiovascular disorders, dermatology diseases, and other rare diseases.
  • Based on end-user, the global market can be categorized into research laboratories & CROs, hospitals & clinics, and diagnostic laboratories

North America & Europe to Dominate Rare Disease Genetic Testing Market

  • The global rare disease genetic testing market can be segmented into North America, Europe, Asia Pacific, Latin America, and Middle East & Africa
  • High prevalence of different types of cancer and rising geriatric population in the region are some factors augmenting the market in North America. Rise in awareness regarding disease prevention and increasing adoption of advanced technological platforms for the development of various diagnostic tests are some factors boosting the market in Europe.

Key Players Operating in Global Rare Disease Genetic Testing Market

Leading players in the global rare disease genetic testing market include:

  • Centogene N.V.
  • 3billion, Inc.
  • Eurofins Scientific
  • Invitae Corporation

Global Rare Disease Genetic Testing Market: Research Scope

Global Rare Disease Genetic Testing Market, by Technology Type

  • Next Generation Sequencing
    • Whole Exome Sequencing
    • Whole Genome Sequencing
  • Array Technology
  • PCR - based Testing
  • FISH
  • Sanger Sequencing
  • Karyotyping

Global Rare Disease Genetic Testing Market, by Disease

  • Neurological Disorders
  • Immunological Disorders
  • Hematology Diseases
  • Endocrine & Metabolism Diseases
  • Cancer
  • Musculoskeletal Disorders
  • Cardiovascular Disorders
  • Dermatology Diseases
  • Other Rare Diseases

Global Rare Disease Genetic Testing Market, by Specialty Type

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

Global Rare Disease Genetic Testing Market, by End-user

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

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Rare Disease Genetic Testing Market