Rare Disease Genetic Testing Market Predicted to Garner USD 3,051.6 Mn By 2032, At CAGR 13.1% | Exclusive Report by Market.us


The NGS technology category had the largest market share in 2022, accounting for approximately 35.22% of the Rare Disease Genetic Testing Market revenue. The market is expanding due to the widespread availability of NGS-based gene panels for detecting a variety of diseases, including cancer, neurologic disorders, and cardiovascular disease.

New York, April 24, 2023 (GLOBE NEWSWIRE) — The Global Global Rare Disease Genetic Testing Market size is expected to be worth around USD 3,051.6 Million by 2032 from USD 918.94 Million in 2023, growing at a CAGR of 13.1% during the forecast period from 2022 to 2032.

Technology advancements like NGS and microarray are key market drivers. The decrease in sequencing costs has increased the awareness of the need to test for rare diseases. Moreover, the market is anticipated to expand as a result of the growing desire for early and quick diagnoses. Additionally, it is anticipated that translational research and genomic technologies will play a crucial role that in improving the analysis and detection of novel mutations and will support the industry’s expansion. The use of genetic testing in illness diagnostics is predicted to experience rapid expansion.


Rare Disease Genetic Testing Market

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Key Takeaway:

  • By Disease Type, in 2022, the endocrine and metabolism segment dominated the global revenue share.
  • By Technology, the next-generation sequencing technology segment dominated the largest market share in technical analysis.
  • By Specialty, the molecular genetic testing segment led the largest market share in specialty analysis.
  • By End-User, Research Laboratories and CROs segment dominated the largest market share.
  • In 2022, North America dominated the market with the highest revenue share of 47.2%.
  • Asia Pacific is anticipated to have the highest CAGR among all the regions.

Factors affecting the growth of the rare disease genetic testing industry

Several factors can have an impact on the growth of the rare disease genetic testing industry. Some of these factors include:

  • The growing number of rare diseases: As more rare diseases are identified, there is a growing need for genetic testing to detect and treat these diseases.
  • Advances in genetic testing technology: The identification of the genetic variants that cause rare diseases have become less difficult because of the development of new and more accurate genetic testing methods.
  • Support from the government: Several governments have supported the genetic testing sector with funds and other resources after realizing the value of genetic testing in the detection and management of rare diseases.

Top Trend of the Global Rare Disease Testing Market:

Next-Generation Sequencing (NGS) is becoming more commonly utilized for genetic testing of rare diseases due to its capacity to scan multiple genes simultaneously and provide more comprehensive data. With the growing emphasis on early identification and treatment of rare diseases, genetic testing becomes even more necessary – early diagnosis leads to better treatments and healthier outcomes for patients.

The whole-exome sequencing market is expected to experience substantial growth over the forecast period due to its growing applications in clinical diagnosis, rising demand for rare disease diagnosis, rising R&D investments in genomics and next-generation sequencing technology, as well as rising personalized medicine demand.

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Market Growth

Several factors have contributed to the growth of the market for genetic testing in rare diseases. One of the main factors driving the demand for genetic testing to diagnose such illnesses is the increasing incidence of rare diseases. The creation of new and improved genetic testing technologies is another factor driving market expansion. For the identification and treatment of rare diseases, these technologies provide greater accuracy and thorough testing. The market for genetic evaluations for rare diseases is expanding in various parts of the world due to government funding. Many governments all around the world are supporting the company with funding and other resources as they realize the value of genetic testing in the identification and treatment of rare diseases.

Regional Analysis

In 2022, North America held a share of more than 47.2% of the total revenue. The high prevalence of rare diseases, the presence of several disease registries, a substantial number of research and development facilities for ultra-rare diseases, and significant spending on disease detection are all factors that contribute to the region’s significant market share. On the other side, Asia Pacific is predicted to grow at the quickest rate throughout the duration of the forecast, with a CAGR of 18.1%. Furthermore, this region will benefit financially from the implementation of frameworks and policies that support illness management.

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Scope of the Report

Report Attribute Details
Market Value (2022) USD 918.94 Million
Market Size (2032) USD 3,051.60 Million
CAGR (from 2023 to 2032) 13.1%
North America Revenue Share 47.2%
Historic Period 2016 to 2022
Base Year 2022
Forecast Year 2023 to 2032

Market Drivers

  • Increasing prevalence of rare illnesses: To detect and treat these problems, there is a demand for genetic testing as the incidence of rare diseases rises.
  • Technological advances in genetic testing:  Genetic testing is becoming more accurate and efficient because of developments in genetic testing technology. For the treatment and diagnosis of rare diseases, that has been promoted the use of genetic testing.

Market Restraints

  • High Cost of Genetic Testing: Given the high cost of genetic testing, patients and healthcare providers may face financial strain when trying to purchase it. This could limit access to genetic testing, especially in low- and middle-income countries.
  • Limited Treatment Accessibility: Patients diagnosed with rare diseases often only have a few viable treatment options, and thus demand for genetic testing may decrease, since patients would not see the benefit of knowing they have a disease that has neither a cure nor an effective treatment.

Market Opportunities

  • Rising demand for non-invasive testing: Non-invasive genetic tastings like blood-based tests, and saliva-based tests are becoming famous because they are easier to administer and less invasive. This may allow the companies to develop such tests and enter into the market for rare diseases.
  • Expansion into new markets: In emerging markets, particularly in low- and middle-income nations with a significant number of rare diseases, the demand for genetic testing continues to be on increasing. Companies that can offer accessible and reasonably priced genetic testing can grow their customer base and boost revenues.

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Report Segmentation of the Rare Disease Genetic Testing Market

Disease Type Insight

Endocrine diseases are expected to register the fastest growth rate of 21.0% during the forecast period, due to an increased understanding of molecular and genetic causes. Genetic testing for endocrine diseases is increasing, as well as the identification of inherited mutations in patients with the primary pigmented nodular adrenocortical disease and bilateral macronodular adrenal hyperplasia. The immunological disorders segment is the second-highest revenue share.

Technology Insight

The Next-Generation Sequencing (NGS) technology category dominated the global market in 2022 and accounted for the greatest revenue share of about 35.22%. The market has been driven by the wide availability and application of NGS-based gene panels for testing cancer, neurologic disorders, cardiovascular disease, and other illnesses. Over the course of the projection period, WES is a genetic testing technique used to determine the genetic basis of rare diseases and is moving toward the standard of care for unknown rare diseases.

Specialty Insight

Based on specialties, this market was divided into molecular genetic testing, chromosomal genetic testing, and biochemical genetic testing. The specialty market for molecular genetic testing had the largest market share in 2022 and was responsible for more than 41.10% of global revenue. By expanding at the fastest CAGR throughout the course of the forecasting period, the segment will keep the lead. Rapid technological advancements and expertise in using and handling high throughput technologies in clinical settings are expected to contribute to the segment’s growth. The use of molecular genetic testing enables the examination of single genes or brief DNA segments for the discovery of mutations or alterations causing genetic illnesses. Molecular testing includes testing for ultra-rare diseases as well as rare diseases.


In 2022, the research labs & CROs industry sector held the largest market share, contributing more than 46.93% of the total revenue. The primary end users are laboratories in this market; most frequently, blood samples obtained from patients are forwarded to a lab for analysis. Molecular genetic tests, chromosomal genetic tests, and biochemical genetic tests are only a few of the testing based on numerous specializations that laboratories offer. Also, molecular genetic testing-based laboratory testing is expanding rapidly on a global scale. Numerous labs, including those with CLIA accreditation for clinical cytogenetics, pathology, and chemistry among other disciplines, do genetic testing.

Recent Development of the Rare Disease Genetic Testing Market

  • Predicine Inc. gained USFDA clearance for its PredicineCARE cfDNA test, an NGS test tool for tumor mutation profiling in cf-DNA, in September 2022.
  • Thermo Fisher Scientific and the Qatar Genome Program (QGP), a branch of the Qatar Foundation (QF), collaborated in May 2022 to advance genomic research and clinical applications of predictive genomics in Qatar as a step toward extending the potential advantages of precision medicine to Arab populations worldwide.

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Market Segmentation

Based on Disease Type

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

Based on Technology

  • Next-Generation Sequencing( NGS)
  • Whole Exome Sequencing
  • Whole Genome Sequencing
  • Array Technology
  • PCR-Based Testing
  • FISH
  • Sanger Sequencing
  • Karyotyping
  • Other Technology

Based on Specialty

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

Based on End-User

  • Research Laboratories & CROs
  • Hospitals & Clinics
  • Diagnostic Laboratories
  • Other End-Users

By Geography

  • North America
    • The US
    • Canada
    • Mexico
  • Western Europe
    • Germany
    • France
    • The UK
    • Spain
    • Italy
    • Portugal
    • Ireland
    • Austria
    • Switzerland
    • Benelux
    • Nordic
    • Rest of Western Europe
  • Eastern Europe
    • Russia
    • Poland
    • The Czech Republic
    • Greece
    • Rest of Eastern Europe
  • APAC
    • China
    • Japan
    • South Korea
    • India
    • Australia & New Zealand
    • Indonesia
    • Malaysia
    • Philippines
    • Singapore
    • Thailand
    • Vietnam
    • Rest of APAC
  • Latin America
    • Brazil
    • Colombia
    • Chile
    • Argentina
    • Costa Rica
    • Rest of Latin America
  • Middle East & Africa
    • Algeria
    • Egypt
    • Israel
    • Kuwait
    • Nigeria
    • Saudi Arabia
    • South Africa
    • Turkey
    • United Arab Emirates
    • Rest of MEA

Competitive Landscape

Companies demand to invest in the goods and services of next-generation sequencing used for detecting rare diseases as a result of the exponential growth in its application on a worldwide scale. Quest Diagnostics Inc. and Centogene N. V are both pioneers in this sector and are major competitors in this industry because of their extensive product range and high market penetration. Some of the key players in the market include:

  • Quest Diagnostics Inc.
  • Centogene N. V
  • Invitae Corp
  • 3billion, Inc.
  • Arup Laboratories
  • Eurofins Scientific
  • Strand Life Sciences
  • Ambry Genetics
  • Perkin Elmer, Inc.
  • Realm IDX, 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.
  • Other key players

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