Rare Disease Genetic Testing Market Size, Share, Analysis, Trends, Growth, Forecasts, 2032

Rare Disease Genetic Testing Market Insights

According to Zion Market Research, the global Rare Disease Genetic Testing Market was worth USD 521.27 Million in 2023. The market is forecast to reach USD 974.58 Million by 2032, growing at a compound annual growth rate (CAGR) of 7.2% during the forecast period 2024-2032. The report offers a comprehensive analysis of the market, highlighting the factors that will determine growth, potential challenges, and opportunities that could emerge in the Rare Disease Genetic Testing Market industry over the next decade.

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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 2022 along with a forecast from 2024 to 2032 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.

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Rare Disease Genetic Testing Market: Growth Factors

Breakthroughs in the molecular biology domain have transformed the phase of diagnosing & treating disease, thereby driving market trends. Apparently, the easy availability of clinically tested methods for detecting genetic disorders through DNA & RNA screening will promulgate the expansion of the rare disease genetic testing industry over the 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 the expansion of the rare disease genetic testing industry. Furthermore, consistent research in gene technology and massive funding of projects such as the human genome project which assisted in not only sequencing of human genes but identifying defective genes causing disease will steer the growth of the rare disease genetic testing market over the forecast timeline.

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

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Rare Disease Genetic Testing Market: Report Scope

Rare Disease Genetic Testing Market: Regional Landscape

North America To Dominate Overall Market Growth By 2032

The surge in awareness related to disease prevention and an increase in the aging population prone to disorders will drive regional market trends. In addition to this, the introduction of new technologies including NGS-driven genetic testing coupled with the rising need for diagnosing & treating genetic diseases in countries such as the U.S. and Canada will spur the expansion of the rare disease gene testing market during the 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.

Rare Disease Genetic Testing Market: Competitive Space

Key players influencing market growth and profiled in the 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.
• 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