Rare Disease Diagnostics Market Trends, Share, Size

The Rare Disease Diagnostics Global Market Report 2023, provides comprehensive information on the rare disease diagnostics market across 60+ geographies in the seven regions – Asia-Pacific, Western Europe, Eastern Europe, North America, South America, Middle East, Africa for the 27 major global industries. The report covers a ten year historic period – 2010-2021, and a ten year forecast period – 2023-2032.

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As per The Business Research Company’s Rare Disease Diagnostics Global Market Report 2023, the global rare disease diagnostics market is expected to grow from $29.62 billion in 2022 to $32.15 billion in 2023 at a compound annual growth rate (CAGR) of 8.55%. The Russia-Ukraine war disrupted the chances of global economic recovery from the COVID-19 pandemic. The war between these two countries has led to economic sanctions on multiple countries, surge in commodity prices, and supply chain disruptions, causing inflation across goods and services and resulted in increased interest rates affecting many markets across the globe. The rare disease diagnostics market is expected to reach $45.26 billion in 2027 at a CAGR of 8.92%.

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Advancements in technology are a key trend gaining popularity in the rare disease diagnostics market. Major companies operating in the rare disease diagnostics market are adopting new technologies to sustain their position in the market. For instance, in April 2023, Centogene GmbH, a Germany-based rare disease company, launched CentoGenome, a whole genome sequencing solution for the diagnosis of rare and neurodegenerative diseases. CentoGenome is an enhanced next-generation sequencing (NGS)-based assay that offers whole genome sequencing (WGS) tests for both rare and neurodegenerative disorders, covering almost all disease-causing variants in a single assay. Additionally, it has the best sensitivity for detecting Copy Number Variations (CNVs) linked with Spinal Muscular Atrophy (SMA), as well as complicated disease-causing variations associated with Gaucher Disease (GD) and susceptibility to GBA1-related Parkinson’s Disease (PD). Centogenome’s implementation of PCR (polymerase chain reaction)-free technology in difficult-to-sequence genomic areas will greatly minimize bias and offer high-quality sequencing data, allowing for a deeper understanding of coding, regulatory, and intronic regions.

The rare disease diagnostics market 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

North America was the largest region in the rare disease diagnostics market in 2022.

The table of contents in TBRC’s rare disease diagnostics market report includes:

1. Executive Summary
2. Rare Disease Diagnostics Market Characteristics
3. Rare Disease Diagnostics Market Trends And Strategies
4. Rare Disease Diagnostics Market – Macro Economic Scenario
5. Global Rare Disease Diagnostics Market Size and Growth

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32. Global Rare Disease Diagnostics Market Competitive Benchmarking
33. Global Rare Disease Diagnostics Market Competitive Dashboard
34. Key Mergers And Acquisitions In The Rare Disease Diagnostics Market
35. Rare Disease Diagnostics Market Future Outlook and Potential Analysis
36. Appendix

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