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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 rare disease diagnostics market is expected to reach $45.26 billion in 2027 at a CAGR of 8.92%.

What was the major driver in the rare disease diagnostics market?
The increasing incidence of rare diseases is expected to propel the growth of the rare disease diagnostics market going forward. A rare disease refers to a low-prevalence health issue that, in comparison to other common diseases in the population, only affects a tiny number of people. Rare disease diagnostics help in the better management of the disease, the identification of potential therapeutics, and the avoidance of unnecessary treatments that may have severe side effects that aid in efficacious treatment. For instance, in February 2021, according to the International Osteoporosis Foundation (IOF), a Switzerland-based government organization, more than 300 million people in the world suffered from rare diseases, which affect 3.5% to 5.9% of the world’s population. Furthermore, in November 2022, according to Health Match, an Australia-based digital health company, there are around 150 rare kidney ailments, and these diseases have a high prevalence around the world, with 60–80 incidences per 100,000 people in America and Europe. Therefore, the increasing incidence of rare diseases is driving the growth of the rare disease diagnostics market.

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What was the key trend in the rare disease diagnostics market?
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.

Which was the largest region in the rare disease diagnostics market?
North America was the largest region in the rare disease diagnostics market in 2022. Asia-Pacific is expected to be the fastest-growing region in the forecast period. The regions covered in this report are Asia-Pacific, Western Europe, Eastern Europe, North America, South America, Middle East and Africa.

Who are the rare disease diagnostics market prominent players?
Major players in the rare disease diagnostics market are 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, and RareCyte Inc.

Key rare disease diagnostics market segments
The global 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

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The Rare Disease Diagnostics Global Market Report 2023  provides a comprehensive overview on the rare disease diagnostics market size, trends and drivers, opportunities, strategies, and companies analysis. Through our reports businesses can effectively analyze data and frame well-informed strategies

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Rare Kidney Diseases Global Market Report 2023

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