Updated 2025 Market Reports Released: Trends, Forecasts to 2034 – Early Purchase Your Competitive Edge Today!

How has the rare disease diagnostics market grown over the years?

In recent times, the market size of rare disease diagnostics has seen a robust growth. There will be a growth from $35.23 billion in 2024 to $38.22 billion in 2025, calculating a compound annual growth rate (CAGR) at 8.5%. The momentum during the historical period can be credited to the growing desire for cloud-based diagnostics, enhanced endeavor on efficiency enhancement, a rise in neurological disease incidents, a surge in immunological disorders, and elevated healthcare expenditure.

What Is the forecasted market size and growth rate for the rare disease diagnostics market?

Anticipated swift expansion is expected in the rare disease diagnostics market in the following years. This market is projected to balloon to $56.23 billion by 2029, with a compound annual growth rate (CAGR) of 10.1%. The uptick over the forecast period can be credited to the rise in the incidence of rare diseases, escalated government initiatives, expanding number of hospitals and diagnostic labs, an increase in hematology diseases, and enhanced healthcare infrastructure. The prediction period will be marked by key trends such as advances in genetic testing technologies, the introduction of whole-genome sequencing and next-generation sequencing (NGS), substantial investments, and strategic partnerships for research projects.

Get your rare disease diagnostics market report here!

https://www.thebusinessresearchcompany.com/report/rare-disease-diagnostics-global-market-report

What are the major factors driving growth in the rare disease diagnostics market?

The rise in occurrences of rare diseases is anticipated to stimulate the expansion of the rare disease diagnostics market. Rare diseases are health conditions that affect a negligible proportion of people compared to other prevalent diseases in the society. Diagnostics for such diseases aid in efficient disease management, the discovery of potential treatments, and the avoidance of superfluous treatments that can lead to grave adverse effects, thereby facilitating effective therapy. For instance, Health Match, a digital health organization from Australia, revealed in November 2022 that there are about 150 rare kidney disorders. These diseases have a high occurrence worldwide, notably in America and Europe, with 60–80 cases per 100,000 people. Consequently, the growing prevalence of rare diseases is fueling the advancement of the rare disease diagnostics market.

What key areas define the segmentation of the global rare disease diagnostics Market?

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

Get your free sample now – explore exclusive market insights:

https://www.thebusinessresearchcompany.com/sample.aspx?id=12651&type=smp

What are the top market players propelling the growth of the rare disease diagnostics industry?

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.

What are the key trends shaping the future of the rare disease diagnostics market?

Technological advancements are becoming a noteworthy trend in the rare disease diagnostics market. To maintain their market position, major firms are implementing new technologies. For example, in April 2023, Centogene GmbH, a German company specializing in rare diseases, introduced CentoGenome, a solution for diagnosing rare and neurodegenerative diseases through whole genome sequencing. This next-generation sequencing (NGS)-based assay delivers whole genome sequencing (WGS) tests for both rare and neurodegenerative diseases, covering virtually all disease-causing variants in a single test. Besides, it shows optimal sensitivity for the detection of Copy Number Variations (CNV) associated with Spinal Muscular Atrophy (SMA), and complex disease-causing variations relating to Gaucher Disease (GD) and GBA1-related Parkinson’s Disease (PD). The use of polymerase chain reaction (PCR)-free technology in challenging genomic areas will significantly reduce bias and provide high-quality sequencing data, enabling a comprehensive understanding of coding, regulatory, and intronic regions via the Centogenome.

Unlock exclusive market insights – purchase your research report now for a swift delivery!

https://www.thebusinessresearchcompany.com/purchaseoptions.aspx?id=12651

What regions are dominating the rare disease diagnostics market growth?

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

Browse Through More Similar Reports By The Business Research Company:

Rare Kidney Diseases Global Market Report 2024

https://www.thebusinessresearchcompany.com/report/rare-kidney-diseases-global-market-report

Rare Neurological Disease Treatment Global Market Report 2024

https://www.thebusinessresearchcompany.com/report/rare-neurological-disease-treatment-global-market-report

Rare Sugar Global Market Report 2024

https://www.thebusinessresearchcompany.com/report/rare-sugar-global-market-report

About The Business Research Company:

With over 15000+ reports from 27 industries covering 60+ geographies, The Business Research Company has built a reputation for offering comprehensive, data-rich research and insights. Armed with 1,500,000 datasets, the optimistic contribution of in-depth secondary research, and unique insights from industry leaders, you can get the information you need to stay ahead in the game.

Contact us at:

The Business Research Company: https://www.thebusinessresearchcompany.com/

Americas +1 3156230293

Asia +44 2071930708

Europe +44 2071930708

Email us at [email protected]

Follow us on:

LinkedIn: https://in.linkedin.com/company/the-business-research-company

YouTube: https://www.youtube.com/channel/UC24_fI0rV8cR5DxlCpgmyFQ

Global Market Model: https://www.thebusinessresearchcompany.com/global-market-model

Found this article helpful? Share it on: