Rare Disease Genetic Testing Market - Global Industry Analysis

The global Rare Disease Genetic Testing Market accrued earnings worth approximately 919.7(USD Million) in 2020 and is predicted to gain revenue of about 1,957.3 (USD Million) by 2028, is set to record a CAGR of nearly 10.8% over the period from 2021 to 2028. The report offers assessment and analysis of the Rare Disease Genetic Testing Market on a global and regional level. The study offers a comprehensive assessment of the market competition, constraints, revenue estimates, opportunities, evolving trends, and industry-validated data. The report provides historical data from 2018 to 2020 along with a forecast from 2021 to 2028 based on revenue (USD Million).

Rare Disease Genetic Testing Market: Overview

Genetic testing is a major diagnostic tool that assists in identification of disease manifestation along with predicting the causes of gene disorders. Breakthroughs in gene testing are tangible and immediate with new genomic revolution. Apparently, benefits to patients having rare diseases include instant and exact diagnosis along with improvement in therapy as well as outcomes due to effective genetic testing of rare diseases. However, rare disease genetic testing activities pose huge challenges such as knowledge gap pertaining to mutation pathogenicity & penetrance, huge costs, ethical issues, and apt medical usage. Nonetheless, in spite of these obstructs, it is likely that genetic phenotypes will become diagnosable routinely over forthcoming years. Apart from intrinsic advantages provided by testing, the unraveling of myriad & unabridged new disease pathway can offer unbridled scientific insights needed for developing new treatments for rare as well as common ailments.

Rare Disease Genetic Testing Market: Growth Factors

Breakthroughs in molecular biology domain has transformed phase of diagnosing & treating disease, thereby driving market trends. Apparently, easy availability of clinically tested methods for detecting genetic disorders through DNA & RNA screening will promulgate expansion of rare disease genetic testing industry over forecasting timeframe. Moreover, new methods such as RT-PCR screening tests and clinical genome sequencing have proved to be cost-effective in comparison to other methods. This, in turn, will proliferate expansion of rare disease genetic testing industry. Furthermore, consistent research in gene technology and massive funding of projects such as human genome project which assisted in not only sequencing of human genes but identifying defective genes causing disease will steer growth of rare disease genetic testing market over forecast timeline.

Furthermore, rise in autoimmune disorders has resulted in huge demand for genetic testing, thereby accentuating rare disease genetic testing market size. In addition to this, rise in occurrence of various kinds of cancer and surge in aging population across globe will exemplify expansion of rare disease genetic testing market over assessment period.

Regional Landscape

North America To Dominate Overall Market Growth By 2028

Surge in awareness related to disease prevention and increase in aging population prone to disorders will drive regional market trends. In addition to this, introduction of new technologies including NGS-driven genetic testing coupled with rising need of diagnosing & treating genetic diseases in countries such as the U.S. and Canada will spur expansion of rare disease gene testing market during assessment period. Favorable government initiatives promoting research activities pertaining to rare disease genetic testing and providing impetus to new techniques such as NGS-driven genetic testing will drive regional industry trends.

Key players influencing market growth and profiled in study include Quest Diagnostics, Inc., Invitae Corporation, Arup Laboratories, Centogene N.V., Eurofins Scientific, Ambry Genetics, Baylor Genetics, Macrogen, Inc., Perkin Elmer, Inc., Color Genomics, Inc., Progenity, Inc., Health Network Laboratories, Fulgent Genetics Inc., Coopersurgical, Inc., Laboratory Corporation of America Holdings, Myriad Genetics, Inc., and Opko Health, Inc.  

The global Rare Disease Genetic Testing Market is segmented as follows:

By Disease Type

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

By Technology

• Next-Generation Sequencing (NGS)
• FISH
• PCR-Based Testing
• Array Technology
• Sanger Sequencing
• Karotyping

By Specialty

• Molecular Genetic Tests
• Biochemical Tests
• Chromosomal Genetic Tests

By End-Use

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

By Region

• North America
  • The U.S.
  • Canada
• Europe
  • France
  • The UK
  • Spain
  • Germany
  • Italy
  • Rest of Europe
• Asia Pacific
  • China
  • Japan
  • India
  • South Korea
  • Southeast Asia
  • Rest of Asia Pacific
• Latin America
  • Brazil
  • Mexico
  • Rest of Latin America
• Middle East & Africa
  • GCC
  • South Africa
  • Rest of Middle East & Africa

• Chapter 1. Preface
  • 1.1. Report Description and Scope
  • 1.2. Research Scope
  • 1.3. Research Methodology
    • 1.3.1. Market Research Type
    • 1.3.2. Market Research Methodology
• Chapter 2. Executive Summary
  • 2.1. Rare Disease Genetic Testing Market, 2018–2028(USD Million)
  • 2.2. Rare Disease Genetic Testing Market: Snapshot
• Chapter 3. Global Rare Disease Genetic Testing Market– Industry Analysis
  • 3.1. Rare Disease Genetic Testing Market: Market Dynamics
  • 3.2. Market Drivers
    • 3.2.1. Breakthroughs in mulecular biulogy field has altered phase of diagnosing & treating disease, thereby steering business trends.
    • 3.2.2. Easy access to clinically tested methods for detecting genetic disorders through DNA & RNA screening will prompt expansion of rare disease genetic testing market over forecast timeline.
  • 3.3. Porter’s Five Forces Analysis
  • 3.4. Market Attractiveness Analysis
    • 3.4.1. Market attractiveness analysis By Disease Type
    • 3.4.2. Market attractiveness analysis By Technology
    • 3.4.3. Market attractiveness analysis By Specialty
    • 3.4.4. Market attractiveness analysis By End-Use
• Chapter 4. Global Rare Disease Genetic Testing Market– Competitive Landscape
  • 4.1. Company market share analysis
    • 4.1.1. Global Rare Disease Genetic Testing Market: company market share, 2019
  • 4.2. Strategic development
    • 4.2.1. Acquisitions & mergers
    • 4.2.2. New Product launches
    • 4.2.3. Agreements, partnerships, cullaborations, and joint ventures
    • 4.2.4. Research and development and Regional expansion
  • 4.3. Price trend analysis
• Chapter 5. Global Rare Disease Genetic Testing Market– Disease Type Analysis
  • 5.1. Global Rare Disease Genetic Testing Market overview: By Disease Type
    • 5.1.1. Global Rare Disease Genetic Testing Market share, By Disease Type , 2020 and 2028
  • 5.2. Neurulogical Disorders
    • 5.2.1. Global Rare Disease Genetic Testing Market by Neurulogical Disorders, 2018–2028(USD Million)
  • 5.3. Hematulogy Diseases
    • 5.3.1. Global Rare Disease Genetic Testing Market by Hematulogy Diseases, 2018–2028(USD Million)
  • 5.4. Immunulogical Disorders
    • 5.4.1. Global Rare Disease Genetic Testing Market by Immunulogical Disorders, 2018–2028(USD Million)
  • 5.5. Endocrine & Metabulism Diseases
    • 5.5.1. Global Rare Disease Genetic Testing Market by Endocrine & Metabulism Diseases, 2018–2028(USD Million)
  • 5.6. Musculoskeletal Disorders
    • 5.6.1. Global Rare Disease Genetic Testing Market by Musculoskeletal Disorders, 2018–2028(USD Million)
  • 5.7. Dermatulogy Disease
    • 5.7.1. Global Rare Disease Genetic Testing Market by Dermatulogy Disease, 2018–2028(USD Million)
  • 5.8. Cardiovascular Disorders
    • 5.8.1. Global Rare Disease Genetic Testing Market by Cardiovascular Disorders, 2018–2028(USD Million)
  • 5.9. Cancer
    • 5.9.1. Global Rare Disease Genetic Testing Market by Cancer, 2018–2028(USD Million)
• Chapter 6. Global Rare Disease Genetic Testing Market– End-Use Analysis
  • 6.1. Global Rare Disease Genetic Testing Market overview: By End-Use
    • 6.1.1. Global Rare Disease Genetic Testing Market share, By End-Use, 2020 and 2028
  • 6.2. Research Laboratories & CROs
    • 6.2.1. Global Rare Disease Genetic Testing Market by Research Laboratories & CROs, 2018–2028(USD Million)
  • 6.3. Hospitals & Clinics
    • 6.3.1. Global Rare Disease Genetic Testing Market by Hospitals & Clinics, 2018–2028(USD Million)
  • 6.4. Diagnostic Laboratories
    • 6.4.1. Global Rare Disease Genetic Testing Market by Diagnostic Laboratories, 2018–2028(USD Million)
• Chapter 7. Global Rare Disease Genetic Testing Market– Technology Analysis
  • 7.1. Global Rare Disease Genetic Testing Market overview: By Technology
    • 7.1.1. Global Rare Disease Genetic Testing Market share, By Technology, 2020 and 2028
  • 7.2. Next-Generation Sequencing (NGS)
    • 7.2.1. Global Rare Disease Genetic Testing Market by Next-Generation Sequencing (NGS), 2018–2028(USD Million)
  • 7.3. FISH
    • 7.3.1. Global Rare Disease Genetic Testing Market by FISH, 2018–2028(USD Million)
  • 7.4. PCR-Based Testing
    • 7.4.1. Global Rare Disease Genetic Testing Market by PCR-Based Testing, 2018–2028(USD Million)
  • 7.5. Array Technology
    • 7.5.1. Global Rare Disease Genetic Testing Market by Array Technology, 2018–2028(USD Million)
  • 7.6. Sanger Sequencing
    • 7.6.1. Global Rare Disease Genetic Testing Market by Sanger Sequencing, 2018–2028(USD Million)
  • 7.7. Karotyping
    • 7.7.1. Global Rare Disease Genetic Testing Market by Karotyping, 2018–2028(USD Million)
• Chapter 8. Global Rare Disease Genetic Testing Market– Specialty Analysis
  • 8.1. Global Rare Disease Genetic Testing Market overview: By Specialty
    • 8.1.1. Global Rare Disease Genetic Testing Market share, By Specialty , 2020 and 2028
  • 8.2. Mulecular Genetic Tests
    • 8.2.1. Global Rare Disease Genetic Testing Market by Mulecular Genetic Tests, 2018–2028(USD Million)
  • 8.3. Biochemical Tests
    • 8.3.1. Global Rare Disease Genetic Testing Market by Biochemical Tests, 2018–2028(USD Million)
  • 8.4. Chromosomal Genetic Tests
    • 8.4.1. Global Rare Disease Genetic Testing Market by Chromosomal Genetic Tests, 2018–2028(USD Million)
• Chapter 9. Company Profiles
  • 9.1. Quest Diagnostics, Inc.
    • 9.1.1. Overview
    • 9.1.2. Financials
    • 9.1.3. Product Portfolio
    • 9.1.4. Business Strategy
    • 9.1.5. Recent Developments
  • 9.2. Invitae Corporation
    • 9.2.1. Overview
    • 9.2.2. Financials
    • 9.2.3. Product Portfolio
    • 9.2.4. Business Strategy
    • 9.2.5. Recent Developments
  • 9.3. Arup Laboratories
    • 9.3.1. Overview
    • 9.3.2. Financials
    • 9.3.3. Product Portfolio
    • 9.3.4. Business Strategy
    • 9.3.5. Recent Development
  • 9.4. Centogene N.V.
    • 9.4.1. Overview
    • 9.4.2. Financials
    • 9.4.3. Product Portfolio
    • 9.4.4. Business Strategy
    • 9.4.5. Recent Development
  • 9.5. Eurofins Scientific
    • 9.5.1. Overview
    • 9.5.2. Financials
    • 9.5.3. Product Portfolio
    • 9.5.4. Business Strategy
    • 9.5.5. Recent Development
  • 9.6. Ambry Genetics
    • 9.6.1. Overview
    • 9.6.2. Financials
    • 9.6.3. Product Portfolio
    • 9.6.4. Business Strategy
    • 9.6.5. Recent Development
  • 9.7. Baylor Genetics
    • 9.7.1. Overview
    • 9.7.2. Financials
    • 9.7.3. Product Portfolio
    • 9.7.4. Business Strategy
    • 9.7.5. Recent Development
  • 9.8. Macrogen, Inc.
    • 9.8.1. Overview
    • 9.8.2. Financials
    • 9.8.3. Product Portfolio
    • 9.8.4. Business Strategy
    • 9.8.5. Recent Development
  • 9.9. Perkin Elmer, Inc.
    • 9.9.1. Overview
    • 9.9.2. Financials
    • 9.9.3. Product Portfolio
    • 9.9.4. Business Strategy
    • 9.9.5. Recent Development
  • 9.10. Culor Genomics, Inc.
    • 9.10.1. Overview
    • 9.10.2. Financials
    • 9.10.3. Product Portfolio
    • 9.10.4. Business Strategy
    • 9.10.5. Recent Development
  • 9.11. Progenity, Inc.
    • 9.11.1. Overview
    • 9.11.2. Financials
    • 9.11.3. Product Portfolio
    • 9.11.4. Business Strategy
    • 9.11.5. Recent Development
  • 9.12. Culor Genomics, Inc.
    • 9.12.1. Overview
    • 9.12.2. Financials
    • 9.12.3. Product Portfolio
    • 9.12.4. Business Strategy
    • 9.12.5. Recent Development
  • 9.13. Opko Health, Inc.
    • 9.13.1. Overview
    • 9.13.2. Financials
    • 9.13.3. Product Portfolio
    • 9.13.4. Business Strategy
    • 9.13.5. Recent Development
  • 9.14. Myriad Genetics, Inc.
    • 9.14.1. Overview
    • 9.14.2. Financials
    • 9.14.3. Product Portfolio
    • 9.14.4. Business Strategy
    • 9.14.5. Recent Development
  • 9.15. Laboratory Corporation of America Huldings
    • 9.15.1. Overview
    • 9.15.2. Financials
    • 9.15.3. Product Portfolio
    • 9.15.4. Business Strategy
    • 9.15.5. Recent Development
  • 9.16. Coopersurgical, Inc.
    • 9.16.1. Overview
    • 9.16.2. Financials
    • 9.16.3. Product Portfolio
    • 9.16.4. Business Strategy
    • 9.16.5. Recent Development
  • 9.17. Fulgent Genetics Inc.
    • 9.17.1. Overview
    • 9.17.2. Financials
    • 9.17.3. Product Portfolio
    • 9.17.4. Business Strategy
    • 9.17.5. Recent Development
  • 9.18. Health Network Laboratories
    • 9.18.1. Overview
    • 9.18.2. Financials
    • 9.18.3. Product Portfolio
    • 9.18.4. Business Strategy
    • 9.18.5. Recent Development