The esoteric testing market revolves around specialized laboratory tests—often not conducted in standard clinical settings—that help diagnose rare, complex, or chronic diseases such as genetic disorders, autoimmune conditions, cancer, and unusual infections. These advanced diagnostic services rely on technologies like mass spectrometry, next-generation sequencing, PCR, and chemiluminescence immunoassays to deliver high sensitivity and precise results. The field is growing due to rising chronic disease prevalence, heightened awareness of early and accurate diagnosis, and advancements in genomic and molecular testing. North America currently leads the market thanks to established healthcare infrastructure and robust adoption of precision diagnostics, while Asia-Pacific is the fastest-growing region as improving healthcare access and infrastructure drive demand. Despite the opportunities presented by innovation and emerging markets, challenges remain—particularly the high cost of these tests and a shortage of qualified professionals to conduct and interpret them.
According to Fortune Business Insights, the global esoteric testing market size was USD 26.81 billion in 2024 and is projected to grow from USD 29.56 billion in 2025 to USD 60.93 billion by 2032, exhibiting a CAGR of 10.9% during the forecast period. North America dominated the esoteric testing market with a market share of 45.16% in 2024.
In August 2022, Myriad Genetics, Inc. achieved a significant milestone as Japan’s Ministry of Health granted expanded coverage for its BRAC Analysis Diagnostic System. This pivotal development enables the system to serve as a companion diagnostic tool—specifically to identify breast cancer patients—further validating the importance of esoteric testing in oncological precision diagnostics.
The esoteric testing market benefits from several powerful growth drivers: