Rare Disease Genetic Testing Market Report 2025

The rare disease genetic testing market size has grown rapidly in recent years. It will grow from $1.03 billion in 2024 to $1.17 billion in 2025 at a compound annual growth rate (CAGR) of 13.6%. The growth in the historic period can be attributed to increasing awareness of rare genetic disorders, rising demand for early and accurate diagnosis, growing government funding for rare disease research, expanding availability of genetic testing services, increased investments in precision medicine, and a rising incidence of rare genetic conditions.

The rare disease genetic testing market size is expected to see rapid growth in the next few years. It will grow to $1.93 billion in 2029 at a compound annual growth rate (CAGR) of 13.3%. The growth in the forecast period can be attributed to increasing adoption of next-generation sequencing, rising focus on personalized medicine, growing investments in genetic research, expanding healthcare infrastructure in emerging markets, rising demand for diagnostic testing, increased hereditary cancer testing, and growing preference for non-invasive diagnostic solutions. Major trends in the forecast period include advancements in genome editing technologies, development of advanced bioinformatics tools for genetic data analysis, innovation in multi-gene panel testing, progress in portable genetic testing devices, and improvements in sample collection techniques.

The rising prevalence of genetic disorders is driving growth in the rare disease genetic testing market. Genetic disorders arise from DNA abnormalities, either inherited from one or both parents or caused by new mutations. Factors such as increasing parental age contribute to a higher likelihood of passing on genetic mutations. Rare disease genetic testing enables early and accurate detection of these conditions, supporting personalized treatment planning and improving patient outcomes. For example, in May 2024, the UK National Health Service reported that 17,000 people were living with sickle cell disease, an inherited genetic blood disorder, with approximately 250 new cases diagnosed each year, highlighting the ongoing need for genetic testing.

Key players are developing digital genomics platforms to enhance the speed, accuracy, and scalability of rare disease diagnosis. These platforms integrate genomic data analysis, interpretation, and reporting to streamline testing workflows. In March 2025, Strand Life Sciences Private Limited (India) launched the StrandOmics Portal, a digital genomics platform that provides clinicians with detailed insights into genetic variants, enabling faster and more precise diagnoses. The platform supports advanced variant interpretation, including prenatal diagnostics, and allows independent review of genetic data, reinforcing precision medicine efforts.

In January 2022, Exact Sciences Corporation (US) acquired Prevention Genetics LLC for \$190 million to expand its hereditary cancer testing capabilities. This acquisition strengthens Exact Sciences’ genetic testing portfolio, accelerating access to hereditary cancer diagnostics and providing healthcare providers with more comprehensive genetic insights. Prevention Genetics specializes in rare disease diagnostics, complementing Exact Sciences’ focus on precision medicine.

Major players in the rare disease genetic testing market are Thermo Fisher Scientific Inc., Quest Diagnostics Inc., Eurofins Scientific SE, Agilent Technologies Inc., Illumina Inc., QIAGEN N.V., Natera Inc., OPKO Health Inc., Myriad Genetics Inc., Fulgent Genetics Inc., BioReference Laboratories Inc., Invitae Corporation, Ambry Genetics Corporation, Centogene N.V., Baylor Genetics Company, PreventionGenetics, Blueprint Genetics Oy, Realm IDX Inc., Artemis DNA Inc., BGI Genomics Co. Ltd.

North America was the largest region in the rare disease genetic testing market in 2024. Asia-Pacific is expected to be the fastest-growing region in the forecast period. The regions covered in rare disease genetic testing market report are Asia-Pacific, Western Europe, Eastern Europe, North America, South America, Middle East and Africa. The countries covered in the rare disease genetic testing market report are Australia, Brazil, China, France, Germany, India, Indonesia, Japan, Russia, South Korea, UK, USA, Canada, Italy, Spain.

Note that the outlook for this market is being affected by rapid changes in trade relations and tariffs globally. The report will be updated prior to delivery to reflect the latest status, including revised forecasts and quantified impact analysis. The report’s Recommendations and Conclusions sections will be updated to give strategies for entities dealing with the fast-moving international environment.

The sudden escalation of U.S. tariffs and the consequent trade frictions in spring 2025 are severely impacting the healthcare sector, particularly in the supply of critical medical devices, diagnostic equipment, and pharmaceuticals. Hospitals and healthcare providers are facing higher costs for imported surgical instruments, imaging equipment, and consumables such as syringes and catheters, many of which have limited domestic alternatives. These increased costs are straining healthcare budgets, leading some providers to delay equipment upgrades or pass on expenses to patients. Additionally, tariffs on raw materials and components are disrupting the production of essential drugs and devices, causing supply chain bottlenecks. In response, the industry is diversifying sourcing strategies, boosting local manufacturing where possible, and advocating for tariff exemptions on life-saving medical products.

Rare disease genetic testing involves analyzing an individual’s DNA to identify genetic mutations or variations that may cause or contribute to a rare disease. This testing enables accurate diagnosis, early intervention, and personalized treatment planning for patients with rare or undiagnosed conditions.

The primary disease types addressed by rare disease genetic testing include immunological disorders, cardiovascular disorders, neurological diseases, endocrine and metabolic disorders, hematological diseases, dermatological diseases, and others. Immunological disorders involve abnormal immune system function, which may manifest as overactivity, underactivity, or autoimmunity. These conditions are diagnosed using technologies such as next-generation sequencing, Sanger sequencing, polymerase chain reaction (PCR)-based testing, array-based testing, fluorescence in situ hybridization (FISH), and others. In terms of specialty testing, rare disease genetic testing is classified into molecular genetic tests, chromosomal genetic tests, and biochemical genetic tests, serving a diverse range of end users, including hospitals and clinics, research laboratories and contract research organizations (CROs), diagnostic laboratories, and other healthcare providers.

The rare disease genetic testing market research report is one of a series of new reports that provides rare disease genetic testing market statistics, including rare disease genetic testing industry global market size, regional shares, competitors with a rare disease genetic testing market share, detailed rare disease genetic testing market segments, market trends and opportunities, and any further data you may need to thrive in the rare disease genetic testing industry. This rare disease genetic testing market research report delivers a complete perspective of everything you need, with an in-depth analysis of the current and future scenario of the industry.

The rare disease genetic testing market consists of revenues earned by entities by providing services such as whole exome sequencing, targeted gene panel testing, whole genome sequencing, carrier screening, and newborn genetic screening. The market value includes the value of related goods sold by the service provider or included within the service offering. The rare disease genetic testing market also includes sales of genetic testing kits, bioinformatics software, next-generation sequencing (NGS) platforms, laboratory reagents and consumables, and targeted gene panels. Values in this market are ‘factory gate’ values; that is, the value of goods sold by the manufacturers or creators of the goods, whether to other entities (including downstream manufacturers, wholesalers, distributors, and retailers) or directly to end customers. The value of goods in this market includes related services sold by the creators of the goods.

The market value is defined as the revenues that enterprises gain from the sale of goods and/or services within the specified market and geography through sales, grants, or donations in terms of the currency (in USD unless otherwise specified).

The revenues for a specified geography are consumption values that are revenues generated by organizations in the specified geography within the market, irrespective of where they are produced. It does not include revenues from resales along the supply chain, either further along the supply chain or as part of other products.

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