Austin, Texas, Dec. 11, 2025 (GLOBE NEWSWIRE) -- According to SNS Insider, The Rare Disease Genetic Testing Market was valued at USD 1.05 billion in 2023 and is expected to reach USD 3.79 billion by 2032, growing at a CAGR of 15.36% over the forecast period of 2024-2032. According to this report, there is a greater need for early and accurate diagnostic solutions due to the incidence and prevalence of rare diseases. Based on advancements in sequencing technologies and expanding newborn screening programs, the study examines regional patterns in the use of genetic testing.
Get a Sample Report of Rare Disease Genetic Testing Market: https://www.snsinsider.com/sample-request/6397
The U.S. Rare Disease Genetic Testing Market was valued at USD 0.31 billion in 2023 and is expected to reach USD 1.18 billion by 2032, growing at a CAGR of 16.01% over 2024-2032. The market for rare disease genetic testing is expanding in the U.S. due to strong federal initiatives, rising investments in precision medicine, and improved partnerships between biotech firms and research institutions to enhance early detection and customized treatment strategies.
Increasing Prevalence of Rare Diseases to Drive Market Growth Globally
Since about 80% of uncommon diseases have a genetic origin, early and precise diagnosis is essential. Rapid, economical, and high-throughput genetic testing made possible by the growing use of Next-Generation Sequencing (NGS) has revolutionized diagnostics. The accuracy of diagnosis has been further enhanced by technological advancements, such as AI-based genetic analysis. Market expansion has been greatly aided by government assistance and financing for research.
High Costs and Reimbursement Limitations Can Restrain Market Expansion Globally
Complete genetic testing can still be costly, ranging from USD 1,000 to USD 5,000, despite the decrease in sequencing costs. Most of the time, insurers only pay for genetic testing for a particular illness, which limits patient access. Limiting factors also include privacy and ethical concerns around the sharing and storage of genetic data.
Major Players Analysis Listed in the Rare Disease Genetic Testing Market Report are
- Quest Diagnostics Inc. – Neurome, GeneDx, ClariTest
- Centogene N.V. – CentoGenome, CentoXome, CentoArray, CentoMetabolic
- Invitae Corp. – Invitae Rare Disorders Panel, Invitae Comprehensive Neuromuscular Disorders Panel
- 3billion, Inc. – Rare Disease Genetic Testing Panels, Whole Exome Sequencing (WES)
- Arup Laboratories – ARUP Exome Test, Targeted NGS Panels for Rare Diseases
- Eurofins Scientific – NMD Panel, Exome NGS for Rare Diseases
- Strand Life Sciences – Strand RareGen, Whole Genome Sequencing for Rare Diseases
- Ambry Genetics – Ambry Exome, Rare Disease NGS Panels
- PerkinElmer, Inc. – PerkinElmer Genomics, Whole Genome Sequencing (WGS)
- Realm IDX, Inc. – Rare Disease Exome Testing, Genomic Sequencing Panels
- Macrogen, Inc. – Rare Disease NGS Panels, Whole Genome Sequencing
- Baylor Genetics – Baylor Exome, Rare Disease Gene Panels
- Color Genomics, Inc. – Color Genetic Risk Panels, Rare Disease Testing
- Health Network Laboratories – HNL Genetic Testing Panels
Rare Disease Genetic Testing Market Report Scope
| Report Attributes | Details |
| Market Size in 2023 | USD 1.05 billion |
| Market Size by 2032 | USD 3.79 billion |
| CAGR | CAGR of 15.36% From 2024 to 2032 |
| Base Year | 2023 |
| Forecast Period | 2024-2032 |
| Historical Data | 2020-2022 |
| Key Segments | • By Disease [Neurological Disorders, Immunological Disorders, Hematology Diseases, Endocrine & Metabolism Diseases, Cancer, Musculoskeletal Disorders, Cardiovascular Disorders, Dermatology Diseases, Other Rare Diseases] • By Technology [Next-generation sequencing, Array Technology, PCR-based Testing, FISH, Sanger Sequencing, Karyotyping] • By Specialty [Molecular Genetic Tests, Chromosomal Genetic Tests, Biochemical Genetic Tests] • By End Use [Research Laboratories & CROs, Hospitals & Clinics, Diagnostic Laboratories] |
| Regional Analysis/Coverage | North America (US, Canada), Europe (Germany, UK, France, Italy, Spain, Russia, Poland, Rest of Europe), Asia Pacific (China, India, Japan, South Korea, Australia, ASEAN Countries, Rest of Asia Pacific), Middle East & Africa (UAE, Saudi Arabia, Qatar, South Africa, Rest of Middle East & Africa), Latin America (Brazil, Argentina, Mexico, Colombia, Rest of Latin America). |
For a Personalized Briefing with Our Industry Analysts, Connect Now: https://www.snsinsider.com/request-analyst/6397
Segmentation Analysis:
By Disease
In 2023, the segment of immunological disorders led the rare disease genetic testing market, with the highest share of 10.5% fueled by the growing incidence of autoimmune and immune deficiency diseases, along with advances in genetic diagnostics enhancing early diagnosis. The endocrine & metabolism diseases category proved to be the fastest-growing segment. The demand was fueled by an elevated number of inherited metabolic disorders, coupled with increased awareness and accessibility of genetic testing.
By Technology
The Next-Generation Sequencing (NGS) segment was the market leader in 2023 with the highest share of 33.9%. NGS segment expansion was driven by its throughput, cost-effectiveness, and capacity to analyze multiple genetic variations at once.
By Specialty
The segment of molecular genetic tests led the rare disease genetic testing market in 2023 with the highest revenue contribution of 38.2%. The leadership of this segment was due to its high precision in detecting single-gene mutations and hereditary disorders.
By End-Use
The research laboratories & CROs were the dominant market in 2023, with a share of 43.6% owing to the growing emphasis on research related to rare diseases, growth in the number of clinical trials, and collaboration between pharmaceutical companies and genetic testing service providers. The diagnostic laboratories category was recognized as the most rapidly growing segment. The growing incorporation of genetic testing within regular clinical diagnostics, along with enhanced access to genetic counseling, fueled this expansion.
Regional Insights:
North America held the largest share in the rare disease genetic testing market in 2023, fueled by sophisticated healthcare infrastructure, high usage of genetic testing, and robust government support.
Asia Pacific region is the most rapidly growing, fueled by growing adoption of genetic testing, expanding healthcare investments, and huge patient bases.
Recent Developments:
- Feb 2025: Strand Life Sciences, a subsidiary of Reliance Industries, launched the StrandOmics Portal, a digital platform aimed at enhancing rare disease diagnosis. The company also announced affordable genetic testing to improve accessibility and precision in rare disease detection.
- Jan 2025: The Centre for Genetic Disorders at Banaras Hindu University (BHU) introduced new initiatives to enhance the research and diagnosis of genetic diseases in Varanasi. The development aims to improve access to advanced genetic testing and counseling.
Purchase Single User PDF of Rare Disease Genetic Testing Market Report (20% Discount): https://www.snsinsider.com/checkout/6397
Exclusive Sections of the Report (The USPs):
- DISEASE INCIDENCE & PREVALENCE METRICS – helps you understand the regional and global burden of rare diseases, providing insight into testing demand potential and prioritization of diagnostic infrastructure investments.
- GENETIC TESTING UTILIZATION TRENDS – helps you assess adoption patterns across key regions, identifying growth pockets in genetic testing demand and variations in diagnostic accessibility.
- HEALTHCARE SPENDING ANALYSIS – helps you evaluate government, commercial, and private sector investments in rare disease testing, supporting strategic insights into funding allocation and reimbursement structures.
- TECHNOLOGICAL ADVANCEMENT INDEX – helps you track the integration of next-generation sequencing (NGS), whole-exome, and genome testing technologies driving precision diagnostics and faster result turnaround times.
- REGULATORY & POLICY IMPACT ASSESSMENT – helps you understand the influence of evolving healthcare regulations, reimbursement policies, and ethical guidelines shaping rare disease testing market expansion.
- ACCESSIBILITY & AWARENESS BENCHMARKS – helps you measure the penetration of genetic testing services, patient outreach efforts, and physician awareness initiatives—critical for improving early diagnosis and expanding testing coverage globally.
Access Complete Report Details of Rare Disease Genetic Testing Market Analysis & Outlook: https://www.snsinsider.com/reports/rare-disease-genetic-testing-market-6397
About Us:
SNS Insider is one of the leading market research and consulting agencies that dominates the market research industry globally. Our company's aim is to give clients the knowledge they require in order to function in changing circumstances. In order to give you current, accurate market data, consumer insights, and opinions so that you can make decisions with confidence, we employ a variety of techniques, including surveys, video talks, and focus groups around the world.
