Home Healthcare IT Rare Disease Genetic Testing Market Size, Share and Forecast to 2031

Rare Disease Genetic Testing Market

Rare Disease Genetic Testing Market Size, Share & Trends Analysis Report By Disease Type (Immunological Disorders, Cardiovascular Disorders, Neurological Disease, Endocrine and Metabolism Disorders Diseases, Hematological Diseases, Dermatological Disease, Others), By Specialty (Molecular Genetic Tests, Chromosomal Genetic Tests, Biochemical Genetic Tests), By Technology (Next-Generation Sequencing, Sanger Sequencing, PCR Based Testing, Array Based Testing, FISH, Others), By End-User (Hospitals and Clinics, Research Laboratories and CROs, Diagnostic Laboratories) and By Region(North America, Europe, APAC, Middle East and Africa, LATAM) Forecasts, 2023-2031

Report Code: SRHI54770DR
Study Period 2019-2031 CAGR 9.1%
Historical Period 2019-2021 Forecast Period 2023-2031
Base Year 2022 Base Year Market Size USD 928.15 Million
Forecast Year 2031 Forecast Year Market Size USD 2032.22 Million
Largest Market North America Fastest Growing Market Europe
The sample report only takes 30 secs to download, no need to wait longer.

Market Overview

The global rare disease genetic testing market size was valued at USD 928.15 million in 2022. It is estimated to reach USD 2,032.22 million by 2031, growing at a CAGR of 9.1% during the forecast period (2023–2031).

A rare disease is a health condition with a low prevalence that affects a small percentage of the general population compared to other prevalent diseases. Knowing the genetics of rare diseases can aid in identifying the root cause of undetected problems, saving families years of hospital visits and pointless tests. The efficient management of rare diseases requires a precise molecular diagnosis to provide disease management and treatment options. It also enables future family planning decisions and the formation of support networks for those afflicted by rare diseases.

Early and accurate diagnoses reduce the need for additional invasive and costly testing and the psychological stress associated with an undetermined diagnosis. A genetic diagnosis may not only be of interest to symptomatic individuals, but it may also be useful as a screening procedure for identifying carriers and asymptomatic individuals, thereby contributing to the secondary prevention of benign and malignant diseases.


  • Neurological disease dominates the disease type segment
  • Next-generation sequencing dominates the technology segment
  • Research laboratories and CROs dominate the end-user segment
  • North America is the highest shareholder in the global marketl 

Market Dynamics

Global Rare Disease Genetic Testing Market Drivers

Declining Sequencing Cost and Technological Advancements in Disease Diagnosis

The advent of NGS technologies has significantly driven research and diagnosis of rare diseases diagnosis area. NGS has not only made genetic diagnosis more affordable and quick, but it has also shed light on the importance of de novo and mosaic mutations, revealed the vast phenotypic range of genes, and detected the presence of many rare diseases in the same patient or digenic inheritance. Furthermore, the plummeting cost of sequencing has driven the adoption of NGS technology in rare disease management.

In addition, technological advancements in data collection and interpretation for clinical practice have driven the market. Companies are making efforts to ensure efficient data collection from various ethnicities, which is expected to aid in the diagnosis of thousands of patients with the same condition. Companies such as Centogene combine genetic testing with metabolomics and proteomics to make their data analysis process as accurate as possible, boosting market growth.

Expanding Patient Registry for Rare Disease

Patient registries and databases play a vital role in clinical research in rare diseases and help improve healthcare planning and patient care. An increase in the number of available registries in this area is among the major driving factors of the market, as it enables pool data to achieve a sufficient sample size for epidemiological and clinical research. They play a pivotal role in assessing the feasibility of clinical trials and thus facilitate the effective planning of clinical trials and enrolment of patients.

Registries accelerate service planning and support public health and clinical research by delivering key insights to researchers. Furthermore, registries can be deployed to create and disseminate new data findings to inform clinical best practices and care and enable the seamless incorporation of patient data in diagnostic procedures. Several major players, realizing the market-expanding potential of registries, are focusing their efforts on promoting and developing registries.

Global Rare Disease Genetic Testing Market Restraint

Absence of Effective Diagnosis Framework

Several rare conditions remain unclassified. The charity SWAN UK estimated that around 6,000 children are born each year with genetic conditions in the UK. As per the agency, the conditions are extremely rare (ultra-rare) and cannot be named. Therefore, there is a lack of proper diagnosis and prognosis for evidence-based treatment. Currently, around 50% of the children who undergo genetic testing in the UK would not receive a confirmed diagnosis. Moreover, the lack of awareness among patients and families on diagnosis and genetic testing of rare conditions has further impeded market growth.

Global Rare Disease Genetic Testing Market Opportunities

Government and Regulatory Support for Rare Disease Diagnosis

Government and regulatory bodies have started launching broader initiatives toward a more standardized and complete rare disease ecosystem in response to growing concerns about rare diseases. The strategies for accelerating rare disease research include establishing national scientific forums, providing avenues for publication, and encouraging the formation of research consortiums. Government bodies are also granting funds to accelerate research and innovation.

In addition, the government bodies have been a part of several networks that aimed at advancing the rare disease arena. For instance, the Spanish Rare Diseases Registries Research Network-SpainRDR includes all health departments of the Autonomous Communities (regions) of Spain, the Spanish Centre of Reference of People and Families affected by RD (CREER), the Spanish Ministry of Health, the Spanish Federation of RD (FEDER), and others. Such involvement of government bodies across the globe is anticipated to provide tremendous opportunities for operating diagnostic developers in the space.

Regional Analysis

Based on region, the global rare disease genetic testing market is bifurcated into North America, Europe, Asia-Pacific, Latin America, and the Middle East and Africa.

North America Dominates the Global Market

North America is the most significant global rare disease genetic testing market shareholder and is estimated to exhibit a CAGR of 8.51% over the forecast period. The high prevalence of rare illnesses, numerous disease registries, a sizable number of R&D centers for ultra-rare diseases, and significant investments in disease detection all contribute to the region's significant market share. Canada and the United States are part of the region. The U.S. is the leading revenue contributor to the region. The National Institutes of Health estimates that more than 30 million Americans have been detected with one of the more than 7,000 known rare diseases. With more awareness, it is anticipated that more patients will undergo disease testing in the upcoming years. In addition, the country celebrates Rare Disease Day, raises awareness, and promotes development. The presence of Rare Diseases Clinical Research Network (RDCRN), a network of 23 active consortia or research groups supported by the NIH and comprised of patients, researchers, and clinicians who are focused on the diagnosis and treatment of rare disorders in the nation, is also estimated to have a positive effect on the U.S. market.

Europe is predicted to exhibit a CAGR of 9.1% over the forecast period. The presence of key participants in the region, such as CENTOGENE, which identifies around 150,000 to 180,000 patients with rare diseases annually, has driven the revenue in this region. To simplify the diagnostic process from start to finish, CENTOGENE has not only solved data analysis issues but has also developed a tool that accelerates the sample collection process by doctors. Furthermore, collaborations between companies and hospitals to expand the rare disease diagnosis arena have driven the market. In October 2016, IBM Watson collaborated with Rhön-Klinikum AG (RKA), a private hospital group in Germany, over rare disease diagnosis; the hospital deployed IBM Watson's technology for diagnosis under the collaboration.

In Asia-Pacific, changes in the prevalence of rare diseases are anticipated as medical professionals become better informed and equipped to diagnose them. Nearly two-thirds of the world's population reside in Asian countries. As a result, this nation has the highest availability of the target population. In addition, several countries lack proper legal frameworks to combat rare diseases. Introducing policies and frameworks to promote rare disease management is the key to shaping the market dynamics. Furthermore, many organizations focusing on rare disease management positively influence revenue growth in the region. For instance, the Fragile X Society – India, the Indian Association of Muscular Dystrophy, the Pompe Foundation, the Indian Prader-Willi Syndrome Association, the Genetic Alliance, and the Hemophilia Federation are some of the Indian organizations that aim to support the management of rare diseases in the country, thereby contributing to the growth of Asian market.

In Latin America, lack of information and deficient legal regulations lead to a lack of coverage in the regional health systems. As a result, the area now has access to proper diagnosis and treatment for rare diseases. Many research projects are being carried out in the field to address the technological and scientific issues in this area to address this. These factors are expected to spur investment in developing diagnostics for rare diseases across Latin American countries. In addition, the presence of health agencies such as La Federación Argentina de Enfermedades Poco Frecuentes (Argentina Federation of Rare Diseases) introducing technological advances in scientific research on rare diseases is expected to boost the revenue share of this region in the coming years.

The Middle East and Africa accounted for the lowest revenue share, which can be attributed to the country's slow economic growth and low awareness levels. Neglected tropical diseases are a major focus of health goals in the countries such as South Africa and Nigeria, leading to a lower share. However, a global increase in awareness about rare and ultra-rare conditions is anticipated to positively impact revenue growth in this country. In addition, the presence of business footprints of global companies in the region is anticipated to significantly benefit the revenue in this regional market.

Report Scope

Report Metric Details
By Disease Type
  1. Immunological Disorders
  2. Cardiovascular Disorders
  3. Neurological Disease
  4. Endocrine and Metabolism Disorders Diseases
  5. Hematological Diseases
  6. Dermatological Disease
  7. Others
By Specialty
  1. Molecular Genetic Tests
  2. Chromosomal Genetic Tests
  3. Biochemical Genetic Tests
By Technology
  1. Next-Generation Sequencing
  2. Sanger Sequencing
  3. PCR Based Testing
  4. Array Based Testing
  5. FISH
  6. Others
By End-User
  1. Hospitals and Clinics
  2. Research Laboratories and CROs
  3. Diagnostic Laboratories
Company Profiles Quest Diagnostics Inc. Centogene N.V. 3billion Inc. Invitae Corp. Arup Laboratories Eurofins Scientific Ambry Genetics Strand Life Sciences Perkin Elmer, Inc. Health Network Laboratories Opko Health, Inc.
Geographies Covered
North America U.S. Canada
Europe U.K. Germany France Spain Italy Russia Nordic Benelux Rest of Europe
APAC China Korea Japan India Australia Taiwan South East Asia Rest of Asia-Pacific
Middle East and Africa UAE Turkey Saudi Arabia South Africa Egypt Nigeria Rest of MEA
LATAM Brazil Mexico Argentina Chile Colombia Rest of LATAM
Report Coverage Revenue Forecast, Competitive Landscape, Growth Factors, Environment & Regulatory Landscape and Trends
Need a Custom Report?

We can customize every report - free of charge - including purchasing stand-alone sections or country-level reports

Segmental Analysis

The global rare disease genetic testing market is bifurcated into disease type, specialty, technology, and end-user.

Based on disease type, the global rare disease genetic testing market is bifurcated into immunological disorders, cardiovascular disorders, neurological diseases, endocrine and metabolism disorders diseases, hematological diseases, dermatological diseases, and others. 

The neurological disease segment owns the highest market share and is predicted to exhibit a CAGR of 8.3% over the forecast period. The neurological disease segment covers rare neurologic disorders, such as RASopathies, hereditary spastic paraplegia, amyotrophic lateral sclerosis, familial dysautonomia, and narcolepsy. ARUP laboratories offer PCR-based narcolepsy genotyping tests, which the New York DOH approves. Commercial availability of approved genetic tests for neurologic conditions has driven the market. Similarly, Invitae Corporation offers various genetic tests for neurologic disorders.

Furthermore, declining sequencing prices are anticipated to majorly favor companies such as CENTOGENE N.V., which offer NGS-based genetic tests for neurologic conditions. The presence of funding agencies to support research studies designed for various neurologic disorders is also anticipated to drive the segment.

Based on specialty, the global rare disease genetic testing market is divided into molecular, chromosomal, and biochemical genetic tests. 

The molecular genetic tests segment is the highest contributor to the market and is predicted to exhibit a CAGR of 9.41% over the forecast period. Rapid technological advancements and expertise in handling and managing high throughput technologies within clinical settings are factors expected to boost segment growth. Molecular genetic tests enable the investigation of single genes or short lengths of DNA to detect mutations or variations leading to genetic disorders. In addition, conventional molecular testing of genetic disorders relies on microarrays and panel or single-gene testing. Molecular testing is not only limited to rare diseases but also covers testing of ultra-rare diseases. Genome sequencing is the most advanced unbiased testing method for research and clinical settings. This is primarily due to the declining cost of sequencing tests and the continuous development of NGS-based new tests.

Based on technology, the global rare disease genetic testing market is bifurcated into next-generation sequencing, sanger sequencing, PCR-based testing, array-based testing, FISH, and others. 

The next-generation sequencing segment dominates the global market and is predicted to exhibit a CAGR of 10.1% during the forecast period. Wide availability and adoption of NGS-based gene panels for cancer, neurologic disease, cardiovascular disease, pediatric conditions, psychiatric disorders, and other rare disease testing have driven the segment. Laboratories offer NGS gene panels to analyze several genes at one time. Panel tests vary according to the laboratory and other commercial products designed for the same condition but those assessing different sets of genes. In addition, NGS has enabled rapid and cost-effective genetic testing by helping to determine the relevance of de novo and mosaic mutations. The technology has also helped detect the wide phenotypic spectrum of genes, digenic inheritance, and the presence of multiple rare diseases in the same individual.

Based on end-user, the global rare disease genetic testing market is segmented into hospitals and clinics, research laboratories and CROs, and diagnostic laboratories. 

The research laboratories and CROs segment is the largest contributor to the market and is projected to exhibit a CAGR of 9.01% over the forecast period. Laboratories are the market's key end-users; in most cases, blood samples collected from patients are sent to a laboratory for testing. Laboratories offer testing based on various specialties, including molecular, chromosomal, and biochemical genetic tests. For instance, ARUP Laboratories offers testing in molecular genetics, cytogenetics, genomic microarray, and biochemical genetics, among others. Laboratories also offer genetic counseling services that further accelerate the uptake of services among patients. Moreover, molecular genetic testing-based laboratory testing is rapidly increasing worldwide. Genetic tests are conducted by multiple laboratories, including those accredited with CLIA for clinical cytogenetics, pathology, and chemistry, among other specialties.

Market Size By Disease Type

Recent Developments

  • March 2023- MedGenome Laboratories announced the introduction of the first-ever Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1) test in India. It is claimed that MedGenome Labs is the first commercial facility to offer this new genetic test that will aid individuals with FSHD1 rare disease in obtaining an early and accurate diagnosis, thereby improving disease management options.
  • June 2023- Dante Genomics, a world leader in genomics and precision medicine, announced the launch of its Rare Disease Health Package, which will revolutionize the diagnosis of rare diseases through whole genome sequencing.

Top Key Players

Quest Diagnostics Inc. Centogene N.V. 3billion Inc. Invitae Corp. Arup Laboratories Eurofins Scientific Ambry Genetics Strand Life Sciences Perkin Elmer, Inc. Health Network Laboratories Opko Health, Inc. Others

Frequently Asked Questions (FAQs)

What is the estimated growth rate (CAGR) of the rare disease genetic testing market?
The market size is growing at a CAGR of 9.1% from 2023 to 2031.
Declining sequencing cost and technological advancements in disease diagnosis is the key driver for the growth of this market.
The key players in this market are Quest Diagnostics Inc., Centogene N.V., 3billion Inc., Invitae Corp., Arup Laboratories, Eurofins Scientific.
The market size are projected to reach USD 2,032.22 million by 2031.

We are featured on :