Global Rare Disease Diagnostics Market
Healthcare Services

Global Rare Disease Diagnostics Market Report 2024: Size, Drivers, And Top Segments

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How is the Rare Disease Diagnostics Market Expected to Expand from 2024 to 2033?

The market size for diagnosing rare diseases has seen robust growth in the last few years. It is projected to rise from $32.15 billion in 2023 to $35 billion in 2024, with a compound annual growth rate (CAGR) of 8.9%. This growth during the historical period can be linked to heightened demand for cloud-based diagnostics, a higher focus on enhancing efficiency, a rising incidence of neurological disease, more cases of immunological disorders, and increased spending on healthcare.

The market for rare disease diagnostics is projected to experience significant growth in the coming years. The market is anticipated to reach a value of $49.94 billion by 2028, growing at a compound annual growth rate (CAGR) of 9.3%. This growth expected during the forecast period can be linked to factors such as the increasing occurrence of rare diseases, greater government initiatives, a growing number of hospitals and diagnostic laboratories, the rise of hematology diseases, and improved healthcare infrastructure. Major trends for the forecast period include advancements in genetic testing technologies, the emergence of whole-genome and next-generation sequencing (ngs), substantial investments, and strategic collaborations aimed at research initiatives.

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What Influences Are Propelling the rare disease diagnostics Market Forward?

The escalating occurrences of uncommon illnesses are projected to drive the expansion of the rare disease diagnostics market. Rare diseases are health conditions with a low prevalence rate, impacting a small segment of the population compared to more widespread diseases. Diagnostics for these rare diseases play a crucial role in disease management, identifying potential treatments, and preventing unnecessary treatments that may have serious side effects on effective treatment. For example, the International Osteoporosis Foundation (IOF), a Switzerland-based government organization, stated in February 2021 that over 300 million people globally are living with rare diseases, representing about 3.5% to 5.9% of the worldwide population. Furthermore, Health Match, an Australian digital health company, indicated in November 2022 that there are approximately 150 uncommon kidney diseases. These diseases have a high prevalence globally, with America and Europe recording 60–80 instances per 100,000 individuals. As a result, the growing prevalence of rare diseases is fueling the expansion of the rare disease diagnostics market.

What Key Segments Exist Within the Rare Disease Diagnostics Market?

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

What Trends Are Coming to the Forefront in the Rare Disease Diagnostics Market?

Rapid progress in the field of technology is a significant trend gaining momentum in the market for rare disease diagnostics. Big firms involved in this market are utilizing groundbreaking tech advancements to maintain their market stance. One example of this is Centogene GmbH, a rare disease firm based in Germany, which introduced CentoGenome – a holistic genome sequencing solution meant for diagnosing rare and neurodegenerative ailments, in April 2023. This improved next-gen sequencing (NGS) assay allows for whole genome sequencing tests for both neurodegenerative disorders and rare diseases, encompassing almost all disease-causing variants through a singular assay. Moreover, it showcases superior sensitivity in identifying Copy Number Variations (CNVs) connected to Spinal Muscular Atrophy (SMA) and complex disease-causing variations related to Gaucher Disease (GD) and susceptibility to GBA1-related Parkinson’s Disease (PD). The adoption of PCR (polymerase chain reaction)-free technology by Centogenome for sequencing difficult genomic areas will dramatically reduce bias, providing high-grade sequencing data. This allows for a more comprehensive exploration of coding, regulatory, and intronic regions.

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What Regions Are Leading the Charge in the Rare Disease Diagnostics Market?

North America was the largest region in the rare disease diagnostics market in 2023. 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

The Rare Disease Diagnostics Global Market Report 2024 offers a comprehensive overview of the audio equipment market, covering historical data from 2010 to 2021 and providing a ten-year forecast from 2023 to 2032. This report examines the size of the rare disease diagnostics market, its market share, and analyzes key competitors along with their market positions.

The Table Of Content For The Rare Disease Diagnostics Market Include

1. Rare Disease Diagnostics Market Executive Summary

2. Rare Disease Diagnostics Market Segments

3. Rare Disease Diagnostics Market Size And Template Market Growth Rate

4. Key Rare Disease Diagnostics Market Trends

5. Major Rare Disease Diagnostics Market Drivers

……

25. Key Mergers And Acquisitions In The Rare Disease Diagnostics Market

26. Top Rare Disease Diagnostics Companies

27. Rare Disease Diagnostics Market Opportunities And Strategies

28. Rare Disease Diagnostics Market, Conclusions And Recommendations

29. Appendix

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