Rare Disease Diagnostics Market to Grow with a CAGR of 15.01% through 2030
Growing prevalence of rare
diseases and rise in technological advancements to drive the rare disease
diagnostics market in the forecast period, 2026-2030.
According to TechSci Research report, “Rare
Disease Diagnostics Market - Global Industry Size, Share, Trends, Opportunity,
and Forecast, 2030”, the Global Rare Disease Diagnostics Market was valued at USD 1.24 billion in 2024 and is expected to reach USD 2.87 billion by 2030 with a CAGR of 15.01% during the forecast period. The
rising incidence of rare disorders, rising awareness of diagnosis of rare
diseases, and extensive research and development are the primary factors
driving the demand for the global rare disease diagnostics market. Growing adoption
of advanced technology and declining sequencing cost, expanding patient
registry for rare disease, and heavy investments in healthcare sector are expected
to influence the market demand. Also, the growing launch of programs & new
product development in rare disease diagnosis is also a key factor for
increasing the growth of the Rare Disease Diagnostics market, globally.
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The global rare disease
diagnostics market is segmented into indication, trait type, test type,
technology, sample type, end user, regional distribution and company.
Based on Trait Type, the inherited disease segment is showing the fastest growth, fueled by advances in genetic testing, increased newborn screening initiatives, and growing awareness of hereditary conditions. According to the World Health Organization (WHO), nearly 72% of rare diseases are genetic in origin, and about 70% manifest in childhood, underscoring the critical need for early and accurate diagnosis. Inherited conditions such as cystic fibrosis, Duchenne muscular dystrophy, spinal muscular atrophy (SMA), Huntington’s disease, and various inborn errors of metabolism are being increasingly prioritized for genetic screening, pushing this segment ahead of acquired rare conditions.
Based on the Region, The Asia Pacific region is expected to witness the fastest growth in the global rare disease diagnostics market, driven by rising healthcare investments, expanding genomic research, and increasing government focus on addressing the unmet needs of patients with rare conditions. Countries like China, India, Japan, South Korea, and Australia are emerging as key contributors due to their large populations and the rising awareness of genetic and metabolic disorders. According to the World Health Organization (WHO), nearly 72% of rare diseases are genetic in origin, and with Asia Pacific accounting for more than 60% of the global population, the demand for advanced diagnostic solutions is immense. Governments in the region are implementing initiatives to improve diagnostic accessibility. For example, China’s National Rare Disease Registry System has cataloged over 2 million cases, helping create a centralized resource to support better clinical diagnosis. Similarly, Japan’s Initiative on Rare and Undiagnosed Diseases (IRUD) is providing nationwide genetic testing infrastructure, ensuring earlier detection and intervention. India has also launched its National Policy for Rare Diseases (2021), which emphasizes genetic screening, registries, and the use of next-generation sequencing (NGS) to support early diagnosis. Alongside government programs, private and academic research collaborations in genomics are growing rapidly, making the region a hub for affordable and large-scale genetic testing.
Major operating companies
operating in Global Rare Disease Diagnostics Market are:
- Agilent Technologies, Inc.
- Illumina, Inc.
- QIAGEN NV
- PerkinElmer, Inc.
- Quest Diagnostics, Inc.
- CENTOGENE N.V.
- 23andMe, Inc.
- 3billion, Inc.
- Eurofins Scientific SE
- Invitae Corporation
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“North America region dominates the
market and is expected to maintain its dominance in the coming years
due high incidence of rare diseases. The presence of a substantial number of
R&D facilities for ultra-rare diseases, presence of a large number of leading players, strongly
established research infrastructure, extensive investments in the diagnosis of
disease, and the availability of appropriate technology in the region is
another key factor. Also, owing to growing
adoption of acquisitions and in the region are expected to propel the global rare
disease diagnostics market growth” said Mr. Karan Chechi, Research
Director of TechSci Research, a research based global management consulting
firm.
“Rare Disease Diagnostics
Market - Global Industry Size, Share, Trends, Opportunity, and Forecast, Segmented By Indication
(Gastroenterology Disease, Endocrine & Metabolism Disorders Disease,
Cardiovascular Disorders, Hematology & Oncology Disease, Others), By Trait
Type (Inherited v/s Acquired), By Test Type (Genetic Tests, General Lab Tests,
Diagnostic Imaging, Others), By Technology (Next Generation Sequencing, Whole
Genome Sequencing, Whole Exome Sequencing, Microarrays, Others), By Sample Type
(DNA Sample, Blood Sample, Saliva Sample, Others), By End User (Hospitals &
Clinics, Academic & Research Institutes, Others), By Region and Competition, 2020-2030F”, has evaluated the future growth potential of global rare
disease diagnostics market and provides statistics & information on market
size, structure, and future market growth. The report intends to provide
cutting-edge market intelligence and help decision makers take sound investment
decisions. Besides, the report also identifies and analyzes the emerging trends
along with essential drivers, challenges, and opportunities in global rare
disease diagnostics market.
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