HomePress-release

Redding, California - December 9, 2025

Rare Disease Diagnostics Market to be Worth $8.13 Billion by 2035

Rare Disease Diagnostics Market by Test Type (Genetic Testing, Biochemical Testing, Imaging Diagnostics), Disease Type (Neurological Disorders, Metabolic Disorders), Technology (Sequencing Technologies, PCR-based Technologies), Sample Type, and End User - Global Forecast to 2035

Meticulous Research®—a leading market research company, published a research report titled, “Rare Disease Diagnostics Market by Test Type (Genetic Testing, Biochemical Testing, Imaging Diagnostics), Disease Type (Neurological Disorders, Metabolic Disorders), Technology (Sequencing Technologies, PCR-based Technologies), Sample Type, and End User - Global Forecast to 2035”.

According to this latest publication from Meticulous Research®, the rare disease diagnostics market is projected to reach $8.13 billion by 2035, at a CAGR of 17.0% from 2025 to 2035. The growth of the rare disease diagnostics market is driven by increasing awareness and early diagnosis initiatives for rare diseases, growing government support and funding for rare disease research and diagnosis, advancements in genomic technologies enabling better rare disease identification, rising prevalence of rare genetic disorders globally, and increasing adoption of next-generation sequencing in clinical settings. However, the market growth is restrained by the high cost of rare disease diagnostic tests limiting accessibility, limited awareness among healthcare professionals in developing regions, and complex regulatory pathways for rare disease diagnostics.

Moreover, the expanding newborn screening programs worldwide, growing focus on precision medicine and personalized treatment approaches, increasing strategic collaborations between diagnostic companies and pharmaceutical firms, and emerging markets with improving healthcare infrastructure are expected to generate growth opportunities for market stakeholders. The long diagnostic odyssey for rare disease patients and limited reimbursement coverage for rare disease testing pose challenges to the growth of the market.

The key players profiled in the rare disease diagnostics market report are Illumina, Inc. (U.S.), Thermo Fisher Scientific Inc. (U.S.), F. Hoffmann-La Roche Ltd (Switzerland), QIAGEN N.V. (Netherlands), PerkinElmer, Inc. (U.S.), Bio-Rad Laboratories, Inc. (U.S.), Agilent Technologies, Inc. (U.S.), CENTOGENE N.V. (Germany), GeneDx, LLC (U.S.), Invitae Corporation (U.S.), Blueprint Genetics (Finland/U.S.), Eurofins Scientific (Luxembourg), Fulgent Genetics, Inc. (U.S.), OPKO Health, Inc. (U.S.), and Strand Life Sciences Pvt. Ltd. (India).

The rare disease diagnostics market is segmented by Test Type, Disease Type, Technology, Sample Type, and End User. The report also evaluates industry competitors and analyzes the rare disease diagnostics market at the regional and country levels.

Among the test types studied in this report, in 2025, the genetic testing segment is anticipated to dominate the rare disease diagnostics market with a share of~ 81.0%. The genetic etiology of approximately 80% of rare diseases, dramatic cost reductions in DNA sequencing technologies over the past two decades, expanding clinical adoption of comprehensive genomic testing approaches, and growing insurance coverage for genetic diagnostic procedures are factors contributing to the segment's dominant position in the rare disease diagnostics market.

Among the disease types studied in this report, in 2025, the neurological disorders segment is anticipated to dominate the rare disease diagnostics market with a share of ~32%. Neurological rare diseases frequently having a strong genetic basis, disorders such as epilepsy syndromes and neuromuscular disorders having highly heterogeneous presentations making advanced diagnostics essential, increasing prevalence of pediatric neurogenetic disorders, and recent advancements in gene therapies and precision neurology intensifying the need for accurate molecular diagnosis are factors contributing to the segment's dominant position in the rare disease diagnostics market.

Among the technologies studied in this report, in 2025, the sequencing technologies segment is anticipated to dominate the rare disease diagnostics market with a share of ~58%. The capability for comprehensive genetic analysis enabling simultaneous evaluation of thousands of genes, dramatic cost reductions making sequencing economically feasible for clinical applications (costs declining from approximately $3 billion per genome in 2003 to under $1,000 currently), detection of virtually all variant types, and expanding clinical evidence demonstrating diagnostic utility and cost-effectiveness are factors contributing to the segment's dominant position in the rare disease diagnostics market.

Among the sample types studied in this report, in 2025, the blood samples segment is anticipated to dominate the rare disease diagnostics market. The versatility of blood samples supporting the broadest range of diagnostic testing approaches including genetic testing, biochemical testing, hematological testing, and immunological testing, well-established infrastructure for blood collection in healthcare facilities, and blood containing or reflecting information about virtually all organ systems are factors contributing to the segment's dominant position in the rare disease diagnostics market.

Among the end users studied in this report, in 2025, the diagnostic laboratories segment is anticipated to dominate the rare disease diagnostics market. Diagnostic laboratories' role as specialized reference facilities concentrating rare disease testing expertise, achievement of economies of scale through sample aggregation from multiple healthcare systems, substantial investments in advanced technologies including latest-generation sequencing platforms, and employment of specialized personnel including medical geneticists and genetic counselors are factors contributing to the segment's dominant position in the rare disease diagnostics market.

Among geographies, in 2025, North America is anticipated to dominate the rare disease diagnostics market. The large share of this regional market is attributed to factors such as the region's most developed rare disease testing infrastructure including leading genetic testing companies and advanced academic medical centers, comprehensive newborn screening programs testing approximately 3.8 million infants annually in the United States alone, expanding insurance coverage for genetic testing removing financial barriers to access, substantial government research funding through the National Institutes of Health exceeding $5 billion annually for rare disease research, and favorable regulatory environment for orphan drug development creating diagnostic demand in the region.

However, Asia-Pacific is projected to register the highest CAGR of ~23% during the forecast period. Rapid healthcare infrastructure development in major economies particularly China and India, rising middle-class populations with increasing healthcare purchasing power, government investments in genomics and precision medicine programs, expanding insurance coverage improving diagnostic access, increasing awareness of genetic diseases and available testing, and large population bases creating substantial absolute numbers of rare disease patients are the key factors driving the market growth in Asia-Pacific.

Download Sample Report Here @ https://www.meticulousresearch.com/download-sample-report/cp_id=6320

Key questions answered in the report-

Which are the high-growth market segments in terms of rare disease diagnostics by test type, disease type, technology, sample type, end user, and geography?
What was the historical market for rare disease diagnostics across the globe?
What are the market forecasts and estimates for the period 2025–2035?
What are the major drivers, restraints, opportunities, and challenges in the rare disease diagnostics market?
Who are the major players operating in the rare disease diagnostics market?
What is the competitive landscape like, and who are the leaders in the rare disease diagnostics market?
What are the recent developments in the rare disease diagnostics market?
What are the different strategies adopted by the major players in the rare disease diagnostics market?
What are the geographical trends and high-growth regions/countries?

Contact Us:
Meticulous Research®
Email- sales@meticulousresearch.com
Contact Sales- +1-646-781-8004
Connect with us on LinkedIn- https://www.linkedin.com/company/meticulous-research

3D Printing

5G Technology

Advanced Chemical & Materials

Agrochemicals

Algae Products

Alternative Proteins

Animal Health

Artificial Intelligence

Automotive Technologies

Big Data Analytics

Climate Technologies

Edible Insects

Electric Vehicle

Food & Agriculture Technologies

Hydrogen Technologies

Internet Of Things

In Vitro Diagnostics

Laboratory Instrumentation

Language Learning Technologies

Medical Technologies

Next Generation Technologies

Processing & Packaging Technologies

Robotics & Automation

Smart Technologies

Water & WastewaterTechnologies

Miscellaneous / Others

Redding, California - December 9, 2025

Rare Disease Diagnostics Market to be Worth $8.13 Billion by 2035

Rare Disease Diagnostics Market by Test Type (Genetic Testing, Biochemical Testing, Imaging Diagnostics), Disease Type (Neurological Disorders, Metabolic Disorders), Technology (Sequencing Technologies, PCR-based Technologies), Sample Type, and End User - Global Forecast to 2035

Recommended Readings

Advanced Chemical &
Materials

Food & Agriculture
Technologies

Next Generation
Technologies

Processing & Packaging
Technologies

Water & Wastewater
Technologies