Rare Disease Genetic Testing Market - Global Industry Size, Share, Trends, Opportunity, and Forecast, Segmented By Disease Type (Neurological Disease, Immunological Disorders, Hematology Diseases, Endocrine & Metabolism Diseases, Cancer, Musculoskeletal Disorders, Cardiovascular Disorders (CVDs), Dermatology Disease, Others), By Speciality (Molecular Genetic Tests, Chromosomal Genetic Tests, Biochemical Genetic Tests), By Technology (Next-Generation Sequencing (NGS), Whole Exome Sequencing, Whole Genome Sequencing, Array Technology, PCR-based Testing, FISH, Sanger Sequencing, Karyotyping), By End User (Research Laboratories & CROs, Hospitals & Clinics, Diagnostic Laboratories), By Region and Competition, 2020-2030F

Market Overview

The Global Rare Disease Genetic Testing Market was valued at USD 881.23 Million in 2024 and is expected to reach USD 1411.30 Million by 2030 with a CAGR of 8.14%. Rare Disease Genetic Testing is diagnosis of genetic mutations or alterations that are responsible for rare diseases. Rare diseases are characterized by their low prevalence, affecting a small percentage of the population. These diseases often have a genetic basis, meaning they are caused by mutations or alterations in specific genes. Genetic testing for rare diseases involves analysing an individual's DNA to identify any abnormalities or mutations that may be causing their symptoms or condition. This can help in providing an accurate diagnosis, understanding the underlying cause of the disease, and guiding personalized treatment and management strategies. Rare disease genetic testing can be performed using various techniques, including next-generation sequencing (NGS), which allows for the simultaneous analysis of multiple genes or even the entire genome. This technology has significantly improved the efficiency and accuracy of genetic testing, enabling the identification of rare genetic mutations. As a result, they are primarily used for understanding the genetics of rare diseases, physicians can identify underlying causes of undetected disorders, saving families years of hospital stays and unnecessary tests. Rare Disease Genetic Testing can be categorized based on molecular test that diagnose change in one or more genes, chromosomal test that is used to analyse the whole chromosomes and gene expression that is basically used to diagnose the turning on or off in different type of cells, targeted single variant, single gene and gene panel.

 Key Market Drivers

Increasing Prevalence Of Rare Disease

​The increasing prevalence of rare diseases is a key driver for the growth of the global rare disease genetic testing market. The prevalence rate of rare diseases in the population is estimated at 3.5–5.9%, translating to approximately 260–440 million people affected globally at any point in time. This estimation is supported by data from the European Organization for Rare Diseases (EURORDIS) and the Orphanet database, which indicate that between 3.5% and 5.9% of the global population is affected by one of approximately 6,000 distinct rare diseases identified to date. ​

With the improving knowledge and understanding of genetics and rare diseases, genetic testing has become a crucial tool for accurate and early diagnosis. Genetic testing allows for the identification of specific genetic mutations associated with rare diseases, enabling healthcare professionals to confirm diagnoses and develop targeted treatment plans. Increased awareness of rare diseases among healthcare providers, patients, and the general public has led to a higher demand for accurate and timely diagnosis. Patients and their families are more likely to seek genetic testing to confirm suspicions of a rare disease, leading to market growth. The concept of precision medicine, which involves tailoring medical care to an individual's genetic makeup, has gained prominence. Genetic testing plays a vital role in identifying the genetic basis of rare diseases, allowing for personalized treatment approaches. This emphasis on personalized medicine fuels the demand for genetic testing.​

Furthermore, the integration of genetic testing into newborn screening programs and the expansion of national rare disease registries have facilitated early detection and intervention, improving patient outcomes. As healthcare systems worldwide continue to prioritize rare disease diagnosis and management, the demand for advanced genetic testing solutions is expected to rise, driving market growth.

Increasing Demand Of Personalized Medication

The rising demand for personalized medicine has a significant impact on driving the growth of the global rare disease genetic testing market. Personalized medicine refers to tailoring medical treatment and interventions to the individual characteristics of each patient, including their genetic makeup. The ability to anticipate which treatments will be most effective for a particular patient. A better understanding of the mechanisms by which diseases develop. New ways to prevent, diagnose, and treat a rare disease for effective treatment of disease the proper diagnosis required which drives the growth of Global Rare Disease Genetic Testing Market. Many rare diseases have a genetic component, meaning they result from specific genetic mutations. Genetic testing is essential for identifying these mutations, confirming diagnoses, and understanding the underlying causes of rare diseases. As personalized medicine aims to target the root causes of diseases, genetic testing becomes a critical tool for tailoring treatments to individuals. Genetic testing allows for precise and early diagnosis of rare diseases. This is especially crucial for rare diseases, where symptoms can be vague and overlapping with other conditions. Accurate diagnosis through genetic testing ensures that patients receive the most appropriate and effective treatment options.

Personalized medicine aims to match treatments to the unique genetic characteristics of each patient. Genetic testing helps identify potential drug targets, predict treatment responses, and guide the selection of appropriate therapies. For rare diseases, where standard treatments may be limited or ineffective, personalized approaches become even more important. Genetic testing allows for ongoing monitoring of treatment efficacy and disease progression. By tracking genetic changes and mutations over time, healthcare providers can adjust treatment plans and interventions to optimize patient outcomes. In the United Kingdom, initiatives like Genomics England's "Our Future Health" and the Newborn Genomes Programme aim to sequence the genomes of 100,000 newborns to identify actionable genetic conditions early, enabling timely treatment and expanding research into new therapies. These programs highlight the integration of whole-genome sequencing into national healthcare systems, emphasizing the role of genetic testing in early diagnosis and personalized treatment. As such initiatives expand, the global rare disease genetic testing market is poised for significant growth, driven by the increasing emphasis on personalized medicine and early intervention.​

Increasing Awareness And Advocacy

Increasing awareness and advocacy for rare diseases is driving the growth of the global rare disease genetic testing market. According to the National Institutes of Health (NIH), there are approximately 7,000 rare diseases affecting between 25 and 30 million Americans with the increasing prevalence of rare disease people are becoming more aware. This is because awareness and advocacy are leading to increased demand for genetic testing among patients, healthcare providers, and policymakers. As awareness about rare diseases and the importance of genetic testing spreads, more patients and their families actively seek out genetic testing for accurate diagnosis and personalized treatment options. Advocacy efforts raise the profile of genetic testing as a valuable tool in managing rare diseases, leading to increased demand for testing services. Advocacy initiatives often emphasize the significance of early diagnosis for better patient outcomes. With increased awareness, individuals and healthcare providers are more likely to consider genetic testing as a means to achieve early and accurate diagnoses of rare diseases. This, in turn, drives the growth of the genetic testing market. Advocacy groups and organizations often collaborate with healthcare providers, researchers, and policymakers to improve access to genetic testing services. These efforts can lead to expanded testing infrastructure, increased funding for testing programs, and reduced barriers to accessing genetic testing, thereby contributing to market growth. Advocacy campaigns raise awareness among healthcare professionals about the importance of genetic testing in rare disease diagnosis and management. This increased engagement can lead to more frequent and appropriate referrals for genetic testing, contributing to market expansion. Increased awareness and advocacy efforts can influence public perception and policy decisions related to genetic testing. Supportive policies, such as insurance coverage for genetic testing, can lead to greater accessibility and utilization of testing services which propels the growth of Global Rare Disease Genetic Testing Market.

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Key Market Challenges

Diagnostic Complexity in Testing

The complex nature of rare diseases can lead to delayed or misdiagnosis. Healthcare providers may struggle to identify the underlying cause of a patient's symptoms, leading to incorrect treatments or unnecessary interventions. Rare diseases often have a wide range of symptoms that can vary widely among individuals. This heterogeneity makes it difficult to develop standardized diagnostic criteria and genetic testing protocols. Many rare diseases are so uncommon that healthcare providers may lack familiarity with their clinical presentations and genetic profiles. This can lead to underutilization of genetic testing, as healthcare professionals may not consider it as an option. The genetic basis of rare diseases can involve multiple genes, variants, and pathways. Identifying the precise genetic mutation responsible for a rare disease can be challenging, requiring advanced testing technologies and bioinformatics analysis.

Limited Knowledge and Awareness

Healthcare professionals may not consider rare diseases as potential diagnoses due to lack of awareness. This can result in delayed or missed diagnoses, leading to prolonged patient suffering and potential progression of the disease. Limited knowledge about rare diseases can lead to misdiagnosis. Patients with rare diseases may be mislabelled as having more common conditions with similar symptoms, which can lead to inappropriate treatments and management. Healthcare providers who are not well-informed about rare diseases may not recognize the potential benefits of genetic testing. As a result, genetic testing may not be offered as an option, and patients may not receive the opportunity for accurate diagnosis. The lack of awareness about specific rare diseases and their genetic basis can create challenges in selecting the appropriate genetic tests. Healthcare providers may not be aware of the specific genetic markers or mutations associated with certain rare diseases. Limited awareness can lead to slower progress in research related to rare diseases and their genetic underpinnings. This can affect the development of new tests, therapies, and treatment approaches.

Ethical And Privacy Concern

Obtaining informed consent for genetic testing can be complex, especially for rare diseases. Patients and their families may have limited understanding of the implications of testing, the potential for unexpected findings, and the extent of data sharing. Genetic testing generates sensitive and personal information. Concerns about the privacy and security of genetic data can discourage individuals from undergoing testing, particularly if they fear potential breaches or unauthorized access to their genetic information. Genetic testing can reveal information not only about the individual being tested but also about their family members. Ethical dilemmas can arise when testing identifies potential risks or conditions in relatives who have not consented to testing. Genetic testing may reveal unexpected findings unrelated to the specific rare disease being tested. Deciding whether and how to communicate such secondary findings to patients raises ethical challenges. Ethical considerations related to genetic testing can be influenced by cultural and religious beliefs. Certain communities may have specific views on genetic testing that need to be respected and addressed.

Key Market Trends

Growth of Direct-to-Consumer (DTC) Testing

The global Rare Disease Genetic Testing market, the growth of Direct-to-Consumer (DTC) testing in the global rare disease genetic testing market has been relatively limited compared to other areas of genetic testing, such as ancestry or health-related traits. DTC testing empowers consumers to take charge of their health by providing them with access to their genetic information. While DTC tests may not specifically target rare diseases, they can detect certain genetic markers associated with increased risk for certain conditions, potentially including some rare diseases. DTC testing companies often provide information about genetic variants that might be associated with rare diseases. Even if the focus is not exclusively on rare diseases, the availability of genetic testing kits can increase general awareness and knowledge about genetics and health. DTC testing can identify rare genetic variants that may be associated with specific rare diseases. While these tests may not be diagnostic, they can offer individuals insights into potential genetic predispositions. Some DTC testing companies offer customers the option to contribute their genetic data to research databases. These databases can be used by researchers studying rare diseases, potentially leading to new discoveries and advancements. DTC testing raises ethical considerations, especially when it comes to disclosing health-related genetic information directly to consumers. Interpretation of genetic data can be complex, and consumers may not always fully understand the implications of their results. Regulatory authorities in different countries have varying levels of oversight over DTC genetic testing. Some countries have implemented regulations to ensure that DTC testing companies provide accurate and meaningful information to consumers.

Segmental Insights

Disease Type Insights

Based on the Disease Type, Endocrine & Metabolism Diseases emerged as the dominant segment in the Global Rare Disease Genetic Testing Market in 2024. Many rare diseases within the Endocrine & Metabolism category have a well-defined genetic basis. Genetic mutations can lead to disruptions in hormone production, metabolism, and other physiological processes, resulting in a range of rare disorders. Genetic testing for Endocrine & Metabolic disorders allows for early and accurate diagnosis, enabling timely intervention and management. Early detection can lead to better outcomes by facilitating appropriate treatment and lifestyle modifications. Genetic testing provides valuable information for developing personalized treatment plans for Endocrine & Metabolic disorders. Understanding the specific genetic mutations involved can guide the selection of targeted therapies and interventions. The segment is projected to experience the highest compound annual growth rate (CAGR) from 2023 to 2030.

Technology Insights

Based on the Technology, Next-Generation Sequencing (NGS) emerged as the dominant segment in the Global Rare Disease Genetic Testing Market in 2024. Next-Generation Sequencing (NGS) is a rapidly emerging technology that is revolutionizing the field of genetic testing. NGS is much faster and more affordable than traditional genetic testing methods, and it can sequence millions of DNA bases in a single run. This makes NGS ideal for rare disease genetic testing, which often requires the analysis of large amounts of genetic data. NGS is more accurate than traditional genetic testing methods. This is because NGS can sequence millions of DNA bases in a single run, which allows for more comprehensive analysis of the genome. NGS is much faster than traditional genetic testing methods. This is important for rare disease genetic testing, which often requires the analysis of large amounts of genetic data. NGS is scalable, which means that it can be used to sequence the genomes of large numbers of patients. This is important for rare disease genetic testing, which often requires the analysis of large data sets. NGS has been incorporated into newborn screening programs for early detection of rare genetic disorders. Detecting and diagnosing rare diseases early allows for prompt interventions and improved outcomes.

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Regional Insights

North America emerged as the dominant region in the Global Rare Disease Genetic Testing Market in 2024. This is primarily driven by a well-established healthcare infrastructure, strong presence of leading genetic testing companies, and early adoption of advanced diagnostic technologies. The region benefits from a high level of awareness regarding rare diseases, supported by proactive government initiatives and regulatory support. Organizations such as the U.S. Food and Drug Administration (FDA) and the National Institutes of Health (NIH) have played a pivotal role in promoting research and development for rare diseases through funding, policy frameworks, and expedited approval pathways for genetic testing tools. The increasing prevalence of rare diseases in the region, combined with rising demand for personalized medicine, further accelerates market growth.

Asia-Pacific emerged as the fastest growing region in the Global Rare Disease Genetic Testing Market during the forecast period. This is attributed to the increasing healthcare expenditure, rising awareness about genetic disorders, and improvements in diagnostic capabilities across emerging economies such as China, India, and South Korea. Governments in the region are investing heavily in healthcare modernization and genomic research, with initiatives aimed at improving early diagnosis and disease management. For instance, China’s Precision Medicine Initiative and India’s Genome India Project are fostering advancements in genetic testing infrastructure and research, focusing particularly on rare and undiagnosed conditions.

Recent Developments

• In February 2025, Strand Life Sciences, a Reliance Industries subsidiary, launched the StrandOmics Portal to support faster and more accurate rare disease diagnosis. The digital platform offers clinicians detailed insights into genetic variants to streamline patient assessments. To mark Rare Disease Day, the company also introduced affordable genetic testing for patients from economically weaker sections, aiming to improve accessibility and reduce diagnostic delays.
• In November 2024, GeneDx launched GeneDx Discover, a data visualization tool providing biopharmaceutical companies with access to deidentified, aggregated genetic data. Powered by GeneDx’s extensive database, the platform aims to support drug development and enhance personalized healthcare insights.
• In April 2024, Getlabs, a leader in at-home diagnostic sample collection, partnered with Inocras, an AI-driven whole genome testing company focused on cancer and rare diseases. The collaboration enables patients to access Inocras’ advanced genetic testing from the comfort of their homes through Getlabs' nationwide collection network. This partnership streamlines the diagnostic process, offering a seamless digital platform for test ordering, at-home sample collection, and result delivery with genetic counseling support.
• In July 2023, Instruments have been added to Strand Life Sciences to enable further automation and scalability. The addition of the newly invented Illumina DNA Sequencer X Plus and the addition of Beckman Coulter's state-of-the-art BioKit Liquid Handler allow Strand to position well for higher volumes and higher performance. Up to 16 Terabases (TDBs) of data can be generated in a single run with the Illumina NNSeq X Plus at a fraction of the cost per base compared to previous generation sequencing platforms. Sample preparation is automated with the Beckman Coulter biomek i7 automated liquid handler to ensure repeatability.
• In May 2023, Biodatabank CENTOGENE is the largest integrated multomic data repository in the world, providing diagnostic, clinical, and life-saving solutions to more than 750,000 patients suffering from rare and neurological diseases. This repository enables patients and partners worldwide to access life-saving treatments.

Key Market Players

• 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

In this report, the Global Rare Disease Genetic Testing Market has been segmented into the following categories, in addition to the industry trends which have also been detailed below:

• Rare Disease Genetic Testing Market, By Disease Type:

o   Neurological Disease

o   Immunological Disorders

o   Hematology Diseases

o   Endocrine & Metabolism Diseases

o   Cancer

o   Musculoskeletal Disorders

o   Cardiovascular Disorders (CVDs)

o   Dermatology Disease

o   Others

• Rare Disease Genetic Testing Market, By Speciality:

o   Molecular Genetic Tests

o   Chromosomal Genetic Tests

o   Biochemical Genetic Tests

• Rare Disease Genetic Testing Market, By Technology:

o   Next-Generation Sequencing (NGS)

o   Whole Exome Sequencing

o   Whole Genome Sequencing

o   Array Technology

o   PCR-based Testing

o   FISH

o   Sanger Sequencing

o   Karyotyping

• Rare Disease Genetic Testing Market, By End User:

o   Research Laboratories & CROs

o   Hospitals & Clinics

o   Diagnostic Laboratories

• Rare Disease Genetic Testing Market, By Region:

o   North America

§  United States

§  Canada

§  Mexico

o   Asia-Pacific

§  China

§  India

§  South Korea

§  Australia

§  Japan

o   Europe

§  Germany

§  France

§  United Kingdom

§  Spain

§  Italy

o   South America

§  Brazil

§  Argentina

§  Colombia

o   Middle East & Africa

§  South Africa

§  Saudi Arabia

§  UAE

Competitive Landscape

Company Profiles: Detailed analysis of the major companies present in the Global Rare Disease Genetic Testing Market.

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Company Information

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