Rare Disease Diagnostics Global Market Report 2024

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 observed in the historical period can be attributed to the rise in demand for cloud-based diagnostics, an increased focus on improving efficiency, a higher prevalence of neurological diseases, an increase in immunological disorders, and heightened 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 anticipated growth in the forecast period can be attributed to the increasing prevalence of rare diseases, rising government initiatives, a growing number of hospitals and diagnostic laboratories, the expansion of hematology diseases, and an increase in healthcare infrastructure. Key trends expected in the forecast period include advancements in genetic testing technologies, the introduction of whole-genome sequencing and next-generation sequencing (NGS), extensive investments, and strategic collaborations for research initiatives.

The rare disease diagnostics market is poised for growth, driven by the increasing incidence of rare diseases. Rare diseases, characterized by their low prevalence in the population, necessitate specialized diagnostics for effective management, identification of potential therapeutics, and avoidance of unnecessary treatments. For instance, data from the International Osteoporosis Foundation (IOF) in February 2021 highlighted that over 300 million people worldwide suffer from rare diseases, affecting 3.5% to 5.9% of the global population. Additionally, Health Match reported in November 2022 that there are approximately 150 rare kidney ailments with a prevalence of 60–80 incidences per 100,000 people in America and Europe. Hence, the rising incidence of rare diseases is a driving force for the growth of the rare disease diagnostics market.

The growing aging population is another factor propelling the expansion of the rare disease diagnostics market. With an aging population, there is an increased need for early identification and personalized treatment approaches facilitated by rare disease diagnostics. According to The United States Census Bureau's June 2023 report, the median age in the United States rose to 38.9 years in 2022, indicating a continuous aging trend in the population. This demographic shift is contributing to the growth of the rare disease diagnostics market by improving the overall management of health conditions in the elderly.

Advancements in technology have become a prominent trend in the rare disease diagnostics market, with major companies adopting new technologies to sustain their market position. For example, in April 2023, Centogene GmbH introduced CentoGenome, a whole genome sequencing solution designed for diagnosing rare and neurodegenerative diseases. This advanced next-generation sequencing (NGS)-based assay covers a wide range of disease-causing variants, offering a comprehensive approach to rare disease diagnostics.

Major companies in the rare disease diagnostics market are also focusing on developing innovative products, such as genetic testing, to enhance their market share. Genetic testing for rare cancers involves using advanced genetic analysis techniques to identify and understand genetic components associated with these diseases. Illumina, a biotechnology company, launched the TruSight Oncology Comprehensive test kit in March 2022, which analyzes 517 cancer-related genes across nearly 30 solid tumor types in a single tissue sample.

In April 2022, Sema4 Holding Corp., a patient-centered health intelligence company, acquired GeneDx for $623 million. This strategic acquisition is expected to bolster Sema4's AI-driven genomic and clinical data analytics platform. GeneDx is a genomic testing service provider specializing in the diagnosis of rare and ultra-rare pediatric genetic illnesses.

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.

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 countries covered in the rare disease diagnostics market report are Australia, Brazil, China, France, Germany, India, Indonesia, Japan, Russia, South Korea, UK, USA, Italy, Spain, Canada.

The primary tests included in rare disease diagnostics are genetic tests, general lab tests, and imaging tests. Genetic tests are laboratory procedures that examine chromosomes, genes, or gene expression in human cells or tissue. Various technologies, including capillary sequencing, whole genome sequencing, whole exome sequencing, and microarrays, utilize different samples such as DNA samples, buccal swab samples, blood, and saliva for the diagnosis of various diseases. These diseases include gastroenterology diseases, endocrine and metabolism disorders, hematology and oncology diseases, dermatology diseases, cardiovascular disorders, and neurology diseases. Rare disease diagnostics are employed by various end-users, including hospital laboratories, diagnostics laboratories, genetic testing laboratories, and cancer research laboratories.

The rare disease diagnostics market research report is one of a series of new reports that provides rare disease diagnostics market statistics, including rare disease diagnostics industry global market size, regional shares, competitors with a rare disease diagnostics market share, detailed rare disease diagnostics market segments, market trends and opportunities, and any further data you may need to thrive in the rare disease diagnostics industry. This rare disease diagnostics market research report delivers a complete perspective of everything you need, with an in-depth analysis of the current and future scenario of the industry.

The rare disease diagnostics market consists of revenues earned by entities by providing services such as clinical evaluation, parallel sequencing, targeted sequencing, laboratory testing, and specialist consultation. The market value includes the value of related goods sold by the service provider or included within the service offering. The rare disease diagnostics market also includes sales of vision evaluation instruments, blood pressure cuffs, cardiac monitors, and advanced imaging equipment. Values in this market are ‘factory gate’ values, that is, the value of goods sold by the manufacturers or creators of the goods, whether to other entities (including downstream manufacturers, wholesalers, distributors, and retailers) or directly to end customers. The value of goods in this market includes related services sold by the creators of the goods.

The market value is defined as the revenues that enterprises gain from the sale of goods and/or services within the specified market and geography through sales, grants, or donations in terms of the currency (in USD, unless otherwise specified).


The revenues for a specified geography are consumption values that are revenues generated by organizations in the specified geography within the market, irrespective of where they are produced. It does not include revenues from resales along the supply chain, either further along the supply chain or as part of other products.