In a major scientific breakthrough, researchers at the University of East Anglia (UEA) and Oxford BioDynamics have developed a high-accuracy blood test capable of diagnosing chronic fatigue syndrome (CFS), also known as myalgic encephalomyelitis (ME/CFS).
The debilitating, long-term illness affects millions worldwide, including over 400,000 people in the UK, yet remains poorly understood and frequently misdiagnosed. With an accuracy rate of 96%, the new test offers fresh hope to patients who have long struggled without reliable diagnostic tools. Researchers also believe the discovery could pave the way for a similar test to diagnose long COVID.
Addressing a Long-Standing Diagnostic Gap
“ME/CFS is a serious and often disabling condition marked by extreme fatigue that does not improve with rest,” explained Prof. Dmitry Pshezhetskiy from UEA’s Norwich Medical School. “For years, doctors told patients that their symptoms were psychological because no definitive tests existed.”
He added, “Our goal was to develop a simple blood test that could confirm a diagnosis—and we succeeded. This test could lead to earlier support and better management for patients.”
Prof. Pshezhetskiy also noted the overlap between post-COVID syndrome (long COVID) and ME/CFS. “Long COVID shares similar symptoms, triggered by the COVID-19 virus rather than infections like glandular fever. We hope our findings will also guide the development of a reliable test for long COVID.”
How the Discovery Was Made
As reported by medicalxpress, the research team used EpiSwitch 3D Genomics technology from Oxford BioDynamics (AIM:OBD) to examine how DNA folds inside blood cells from 47 patients with severe ME/CFS and 61 healthy controls.
Each human cell contains roughly two meters of DNA, intricately folded in 3D structures. These folds are not random—they form a hidden code that regulates gene activity and helps maintain health.
Dr. Alexandre Akoulitchev, Chief Scientific Officer at Oxford BioDynamics, explained, “Chronic fatigue syndrome isn’t a genetic disease you inherit at birth. That’s why using EpiSwitch’s ‘epigenetic’ markers—which change during life—was key to achieving such high accuracy.”
He added that the EpiSwitch platform, backed by OBD’s vast 3D genomic database, has already demonstrated success in fast, scalable diagnostic testing. “With this breakthrough, we’re proud to deliver the first-of-its-kind test that meets an urgent medical need for a quick, reliable diagnosis of this complex condition,” he said.
Revealing a Unique Genetic Pattern
Using this advanced approach, the team discovered a distinct pattern of DNA folding consistently present in people with ME/CFS—but absent in healthy individuals. Unlike previous genetic studies, this research looked beyond linear DNA sequences, exploring the three-dimensional genome structure.
Their analysis revealed hundreds of additional genetic changes, including five of the eight regions identified by the large-scale DecodeME study. The test achieved 92% sensitivity—accurately identifying those with ME/CFS—and 98% specificity, meaning it effectively ruled out those without the disease.
Insights Into Immune System and Inflammation
The study also identified immune system and inflammation pathways linked to ME/CFS, which could guide the development of targeted therapies and help predict treatment responses in individual patients.
A Major Step Forward for Diagnosis and Treatment
“This is a significant step forward,” said Prof. Pshezhetskiy. “For the first time, we have a simple, reliable blood test that can accurately detect ME/CFS—transforming how we diagnose and manage this complex illness.”
He added that understanding the biological pathways behind ME/CFS may open the door to new targeted treatments and personalized care. “We hope the EpiSwitch CFS test will soon become a vital diagnostic tool in clinical settings, improving patient outcomes and advancing research into related conditions like long COVID,” he said.
The findings were published in the Journal of Translational Medicine.