Leading Growth Driver in the Rare Disease Diagnostics Market in 2025: A Surge In Rare Disease Incidence And Diagnostics Driver's Influence

Which drivers are expected to have the greatest impact on the over the rare disease diagnostics market's growth?
The escalation in the occurrence of rare diseases is predicted to boost the expansion of the rare disease diagnostics market. A rare disease is defined as a health condition that has a low prevalence and only affects a small group of people compared to other prevalent diseases. Diagnostics for these rare diseases play a crucial role in better disease management, finding potential therapeutics, and avoiding unnecessary treatments that might lead to severe side effects, ultimately leading to more effective treatment. As an illustration, Health Match, a digital health company based in Australia, stated in November 2022 that there are nearly 150 rare kidney diseases. These diseases are quite prevalent globally, with between 60 to 80 occurrences per 100,000 people in America and Europe. As a result, the rising occurrence of rare diseases is fuelling the expansion of the rare disease diagnostics market.

Get Your Rare Disease Diagnostics Market Report Here:
https://www.thebusinessresearchcompany.com/report/rare-disease-diagnostics-global-market-report

What is the future CAGR of the rare disease diagnostics market, and how will it impact industry expansion?
Recently, there has been a robust growth in the market size of rare disease diagnostics, expanding from $35.23 billion in 2024 to an estimated $38.22 billion in 2025, exhibiting a compound annual growth rate (CAGR) of 8.5%. The historical growth is linked to factors such as the surge in demand for cloud-based diagnostics, enhanced attention to efficiency improvement, rise in neurological diseases, heightened incidences of immunological disorders, and an uptick in healthcare expenditure.

In the forthcoming years, the market for rare disease diagnostics is projected to witness a swift expansion. By 2029, the market could be worth $56.23 billion, with a compound annual growth rate (CAGR) of 10.1%. The projected growth during this period could be due to rising occurrences of rare diseases, enhanced government initiatives, an increasing amount of hospitals and diagnostic labs, the growth of hematology diseases, and improved healthcare infrastructure. In the same timeline, the market is expected to see significant trends such as advancements in genetic testing technology, the advent of whole-genome and next-generation sequencing (NGS), substantial investments, and strategic partnerships for research endeavors.

Get Your Free Sample Now - Explore Exclusive Market Insights:
https://www.thebusinessresearchcompany.com/sample.aspx?id=12651&type=smp

How are the latest trends influencing the growth of the rare disease diagnostics market?
Technological advancements are becoming a prominent trend in the rare disease diagnostics market. To maintain their market stance, many leading corporations in this sector are embracing innovative technologies. Centogene GmbH, a rare disease firm based in Germany, introduced CentoGenome, a comprehensive genome sequencing solution for the diagnosis of rare and neurodegenerative diseases, in April 2023 as an example. This advanced next-generation sequencing (NGS) based test offers whole genome sequencing (WGS) for a variety of rare and neurodegenerative conditions, encompassing nearly every disease-causing variant in a single analysis. It is also highly sensitive in identifying Copy Number Variations (CNVs) associated with Spinal Muscular Atrophy (SMA), complex disease-causing variations linked to Gaucher Disease (GD), and predispositions to GBA1-related Parkinson's Disease (PD). Centogenome's use of polymerase chain reaction (PCR)-free technology in regions of the genome that are hard to sequence greatly reduces bias and provides high-precision sequencing data. This will allow for a more comprehensive exploration of coding, regulatory, and intronic areas.

Which key market segments comprise the rare disease diagnostics market and drive its revenue growth?
The rare disease diagnostics market covered in this report is segmented -

1) By Test Type: Genetic Test, General Lab Test, Imaging Test
2) By Technology: Capillary Sequencing, Whole Genome Sequencing, Whole Exome Sequencing, Microarrays
3) By Sample Type: Deoxyribonucleic Acid (DNA) Sample, Buccal Swab Sample, Blood, Saliva
4) By Disease Type: Gastroenterology Disease, Endocrine And Metabolism Disorders Disease, Hematology And Oncology Disease, Dermatology Disease, Cardiovascular Disorders, Neurology Disease
5) By End User: Hospital Laboratories, Diagnostics Laboratories, Genetic Testing Laboratories, Cancer Research Laboratories

Subsegments:
1) By Genetic Test: Whole Genome Sequencing, Targeted Gene Panels, Exome Sequencing, Carrier Testing
2) By General Lab Test: Blood Tests, Biochemical Assays, Urine Tests, Cytogenetic Tests
3) By Imaging Test: MRI (Magnetic Resonance Imaging), CT (Computed Tomography) Scans, Ultrasound, X-Rays

Unlock Exclusive Market Insights - Purchase Your Research Report Now!
https://www.thebusinessresearchcompany.com/purchaseoptions.aspx?id=12651

What regions are at the forefront of rare disease diagnostics market expansion?
North America was the largest region in the rare disease diagnostics market in 2024. Asia-Pacific is expected to be the fastest-growing region in the forecast period. The regions covered in the rare disease diagnostics market report are Asia-Pacific, Western Europe, Eastern Europe, North America, South America, Middle East, Africa

Who are the leading players fueling growth in the rare disease diagnostics market?
Major companies operating in the rare disease diagnostics market include Thermo Fisher Scientific Inc., Roche Diagnostics, Laboratory Corporation of America Holdings, Quest Diagnostics Incorporated, Astellas Pharma Inc., Eurofins Scientific SE, Agilent Technologies Inc., PerkinElmer Inc., Sanofi Genzyme, Illumina Inc., Bio-Rad Laboratories Inc., Qiagen NV, BioMarin Pharmaceutical Inc., OPKO Health Inc., Sarepta Therapeutics Inc., Natera Inc., Invitae Corporation, Ultragenyx Pharmaceutical Inc., Travere Therapeutics Inc., BGI Genomics Co. Ltd., 23andMe Holding Co., Ambry Genetics Corporation, Centogene N.V., GENEWIZ Inc., Blueprint Genetics Inc., Oxford Gene Technology Limited, Strand Life Sciences Pvt. Ltd., Agios Pharmaceuticals Inc., Orphazyme A/S, RareCyte Inc.

Customize Your Report - Get Tailored Market Insights!
https://www.thebusinessresearchcompany.com/sample.aspx?id=12651&type=smp

What Is Covered In The Rare Disease Diagnostics Global Market Report?

• Market Size Forecast: Examine the rare disease diagnostics market size across key regions, countries, product categories, and applications.
• Segmentation Insights: Identify and classify subsegments within the rare disease diagnostics market for a structured understanding.
• Key Players Overview: Analyze major players in the rare disease diagnostics market, including their market value, share, and competitive positioning.
• Growth Trends Exploration: Assess individual growth patterns and future opportunities in the rare disease diagnostics market.
• Segment Contributions: Evaluate how different segments drive overall growth in the rare disease diagnostics market.
• Growth Factors: Highlight key drivers and opportunities influencing the expansion of the rare disease diagnostics market.
• Industry Challenges: Identify potential risks and obstacles affecting the rare disease diagnostics market.
• Competitive Landscape: Review strategic developments in the rare disease diagnostics market, including expansions, agreements, and new product launches.

Connect with us on:
LinkedIn: https://in.linkedin.com/company/the-business-research-company,
Twitter: https://twitter.com/tbrc_info,
YouTube: https://www.youtube.com/channel/UC24_fI0rV8cR5DxlCpgmyFQ.

Contact Us
Europe: +44 207 1930 708,
Asia: +91 88972 63534,
Americas: +1 315 623 0293 or
Email: mailto:info@tbrc.info

Learn More About The Business Research Company
With over 15,000+ reports from 27 industries covering 60+ geographies, The Business Research Company has built a reputation for offering comprehensive, data-rich research and insights. Our flagship product, the Global Market Model delivers comprehensive and updated forecasts to support informed decision-making.

This release was published on openPR.