Dublin, Dec. 12, 2024 (GLOBE NEWSWIRE) -- The "Rare Disease Diagnostics Market by Component, Technology, Disease Type, End-use - Global Forecast 2025-2030" report has been added to ResearchAndMarkets.com's offering.
The Rare Disease Diagnostics Market grew from USD 2.68 billion in 2023 to USD 3.12 billion in 2024. It is expected to continue growing at a CAGR of 17.36%, reaching USD 8.23 billion by 2030. 
Key market growth factors include advancements in genomic technologies, increased funding for research, and heightened awareness among clinicians and patients, driving demand for more comprehensive and early diagnostic tools.
Recent opportunities are notably present in expanding telemedicine pathways and AI-assisted diagnostics, which facilitate remote and faster identification of rare pathologies. Companies are encouraged to invest in partnerships with academic institutions to foster innovation, particularly in AI and machine learning which can enhance diagnostic precision and speed.
However, substantial challenges include the high cost of diagnostic kits and a lack of skilled professionals, particularly in developing regions, hindering widespread adoption. Market limitations are further exacerbated by regulatory complexities and fragmented healthcare systems that delay diagnostic approvals and accessibility.
To overcome these, innovation should target cost-effective technologies and streamlined regulatory pathways. Ecosystem collaborations can yield standardized protocols and shared databases, propelling unified advancements. The market is highly dynamic, with a growing push towards holistic diagnostics, integrating genetic, clinical, and multilevel data analysis.
The nature of this market, while competitive, offers robust potential for firms that can navigate regulatory hurdles and focus on AI-driven diagnostics, underscoring precision, accessibility, and scalability in addressing the unique challenges of rare diseases.
Market Segmentation & Coverage
This research report categorizes the Rare Disease Diagnostics Market to forecast the revenues and analyze trends in each of the following sub-markets:
- Component
- Consumable & Assay Kit
- Diagnostic Instrument
- Technology
- Array Technology
- Next Generation Sequencing
- Sanger Sequencing
- Disease Type
- Cancer
- Cardiovascular Disorders
- Dermatology Disease
- Endocrine & Metabolism Diseases
- Hematology Diseases
- Immunological Disorders
- Musculoskeletal Disorders
- Neurological Disorders
- End-use
- Diagnostic Laboratories
- Hospitals & Clinics
- Research Laboratories & CROs
- Region
- Americas
- Argentina
- Brazil
- Canada
- Mexico
- United States
- Asia-Pacific
- Australia
- China
- India
- Indonesia
- Japan
- Malaysia
- Philippines
- Singapore
- South Korea
- Taiwan
- Thailand
- Vietnam
- Europe, Middle East & Africa
- Denmark
- Egypt
- Finland
- France
- Germany
- Israel
- Italy
- Netherlands
- Nigeria
- Norway
- Poland
- Qatar
- Russia
- Saudi Arabia
- South Africa
- Spain
- Sweden
- Switzerland
- Turkey
- United Arab Emirates
- United Kingdom
- Americas
The report provides a detailed overview of the market, exploring several key areas:
- Market Penetration: A thorough examination of the current market landscape, featuring comprehensive data from leading industry players and analyzing their reach and influence across the market.
- Market Development: The report identifies significant growth opportunities in emerging markets and assesses expansion potential within established segments, providing a roadmap for future development.
- Market Diversification: In-depth coverage of recent product launches, untapped geographic regions, significant industry developments, and strategic investments reshaping the market landscape.
- Competitive Assessment & Intelligence: A detailed analysis of the competitive landscape, covering market share, business strategies, product portfolios, certifications, regulatory approvals, patent trends, technological advancements, and innovations in manufacturing by key market players.
- Product Development & Innovation: Insight into groundbreaking technologies, R&D efforts, and product innovations that will drive the market in future.
Additionally, the report addresses key questions to assist stakeholders in making informed decisions:
- What is the current size of the market, and how is it expected to grow?
- Which products, segments, and regions present the most attractive investment opportunities?
- What are the prevailing technology trends and regulatory factors influencing the market?
- How do top vendors rank regarding market share and competitive positioning?
- What revenue sources and strategic opportunities guide vendors' market entry or exit decisions?
Key Attributes
| Report Attribute | Details |
| No. of Pages | 189 |
| Forecast Period | 2024-2030 |
| Estimated Market Value (USD) in 2024 | $3.12 Billion |
| Forecasted Market Value (USD) by 2030 | $8.23 Billion |
| Compound Annual Growth Rate | 17.3% |
| Regions Covered | Global |
The leading players in the Rare Disease Diagnostics market, which are profiled in this report, include:
- 23andMe Inc.
- 3billion, Inc.
- Agilent Technologies Inc.
- ARCHIMED Life Science GmbH
- ARUP Laboratories
- AstraZeneca PLC
- Azenta Life Sciences
- Baylor Genetics
- Caris Life Sciences
- CENTOGENE N.V.
- Eurofins Scientific Inc.
- F. Hoffmann-La Roche Ltd.
- Fulgent Genetics, Inc.
- Illumina, Inc.
- In-Depth Genomics
- Invitae Corporation
- Laboratory Corporation of America Holdings
- MedGenome Labs Ltd.
- OPKO Health, Inc.
- PerkinElmer Inc.
- Progenity, Inc.
- Quest Diagnostics Incorporated
- Sanofi S.A.
- Thermo Fisher Scientific Inc.
- Travere Therapeutics Inc.
Rare Disease Diagnostics Market Dynamics
- Market Drivers
- Growing prevalence of rare genetic diseases and the need for early & rapid diagnosis
- Rising use in translational & genomic research for the identification of novel mutations
- Government initiatives for diagnosis and treatment of rare diseases
- Market Restraints
- Stringent regulations associated with the approval process of new rare diseases genetic test
- Market Opportunities
- Advancements in genetic technology to Identify new rare disease genes
- Favorable investments for diagnosis of rare genetic diseases
- Market Challenges
- Ethical concerns and access to limited information on rare disease
For more information about this report visit https://www.researchandmarkets.com/r/ewbne
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