2025 Market Reports Update: Market Size Forecasts to 2034, Key Trends, Leading Players, and Top Regions – Get Ahead of the Competition Today!

What External and Internal Drivers Are Contributing to the Growth of theRare Disease Diagnostics Market?

The acceleration in the occurrence of rare illnesses is predicted to fuel the expansion of the rare disease diagnostics market in the future. A rare ailment is defined as a health condition with low frequency, which impacts a minuscule segment of people compared to more prevalent diseases in the general populace. Diagnostics for rare diseases contribute to improved disease management, identification of prospective treatments, and prevention of needless therapies that might come with serious side effects, all leading to effective treatment. For example, in November 2022, Health Match, a digital health firm based in Australia, reported that there are approximately 150 uncommon kidney diseases, and these ailments have a global high prevalence, with 60–80 occurrences per 100,000 people in both America and Europe. Thus, the rising occurrence of rare diseases is boosting the development of the rare disease diagnostics market.

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#What Are the Key Projections for the CAGR of the Rare Disease Diagnostics Market From 2025 to 2034?

The market size for rare disease diagnostics has seen robust growth in the latest years. The market is projected to expand from $35.23 billion in 2024 to $38.22 billion in 2025, representing a compound annual growth rate (CAGR) of 8.5%. The growth during the historical period is due to the augmented demand for cloud-based diagnostics, an enhanced focus on boosting efficiency, a rising number of neurological diseases, increased immunological disorders, and heightened healthcare expenditure.

In the coming years, the market size for rare disease diagnostics is predicted to undergo a swift expansion. It is set to reach a value of $56.23 billion in 2029, with a Compound Annual Growth Rate (CAGR) of 10.1%. Factors contributing to this growth during the forecast period include a rising occurrence of rare diseases, the implementation of more government initiatives, the increase in the number of hospitals and diagnostic labs, the prevalence of hematology diseases, and the augment of healthcare infrastructure. Significant trending factors during the forecast period include innovations in genetic testing technologies, the emergence of whole-genome sequencing and next-generation sequencing (NGS), considerable investments, and strategic research partnership.

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Which Upcoming Market Trends and Innovations Are Set to Influence theRare Disease Diagnostics Market’s Path Forward?

The rise in technological advancement is a significant trend gaining momentum in the rare disease diagnostics sector. Major market players in this field are embracing new technologies to retain their market stronghold. For example, in April 2023, a rare disease firm from Germany, Centogene GmbH, introduced CentoGenome, a whole genome sequencing solution devoted to the detection of rare and neurodegenerative disorders. As a next-generation sequencing (NGS)-based assay, CentoGenome provides whole genome sequencing (WGS) tests for both rare and neurodegenerative disorders encompassing almost all disease-triggering variations in one assay. Additionally, it boasts leading sensitivity levels for identifying Copy Number Variations (CNVs) associated with Spinal Muscular Atrophy (SMA), and complex disease-inducing variations linked to Gaucher Disease (GD) and GBA1-related Parkinson’s Disease (PD) susceptibility. By applying PCR (polymerase chain reaction)-free technology in hard-to-sequence genomic areas, Centogenome significantly reduces bias and delivers high-quality sequencing data, facilitating an enriched understanding of coding, regulatory, and intronic regions.

Who Are the Dominant Market Players Pushing the Boundaries of theRare 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.

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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

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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

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