Rare Disease Diagnostics Market 2024-2033: Competitor Assessment, New Trends, Share Analysis And Global Key Players

The rare disease diagnostics market size has grown strongly in recent years. It will grow from $32.15 billion in 2023 to $35 billion in 2024 at a compound annual growth rate (CAGR) of 8.9%. The growth in the historic period can be attributed to the rise in demand for cloud-based diagnostics, increased focus on improving efficiency, increased prevalence of neurological disease, increased immunological disorders, increased healthcare spending.

The rare disease diagnostics market size is expected to see strong growth in the next few years. It will grow to $49.94 billion in 2028 at a compound annual growth rate (CAGR) of 9.3%. The growth in the forecast period can be attributed to increasing prevalence of rare diseases, increasing government initiatives, increasing number of hospitals and diagnostic laboratories, growing hematology diseases, increasing healthcare infrastructure. Major trends in the forecast period include advancements in genetic testing technologies, introduction of whole-genome sequencing and next-generation sequencing (ngs), extensive investments, strategic collaborations for research initiatives.

Market Overview -
Rare disease diagnostics refers to the process of identifying and diagnosing medical conditions that are considered rare or uncommon. These diagnostics are used for early detection and diagnosis, as well as the selection of targeted and personalized treatment plans for uncommon disorders.

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A Surge In Rare Disease Incidence And Diagnostics
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.

Competitive Landscape -
Major companies operating in the rare disease diagnostics market report 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, RareCyte Inc.

Technological Advancements Reshaping Diagnostics
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.

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Key Segments -
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

Key highlights covered in the report -
1. Detailed market size forecast and historical data analysis
2. Key drivers influencing market growth
3. Identification of upcoming trends and potential opportunities in the market
4. Analysis of major players strategies, to understand competitive dynamics and market positioning
5. Evaluation of regional dynamics

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