Novel Blood Test May Offer definitive diagnosis for Chronic Fatigue Syndrome: Study - Video

Scientists at the University of East Anglia have developed a revolutionary blood test capable of diagnosing Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) with 96% accuracy, offering new hope for millions affected by this debilitating and often misunderstood condition. Published recently, this breakthrough provides a reliable diagnostic tool where none previously existed, potentially transforming patient care and paving the way for similar tests to detect long Covid.

ME/CFS is a serious illness characterized by persistent and unexplained fatigue that is not relieved by rest, accompanied by symptoms such as cognitive impairment, sleep disturbances, and post-exertional malaise. Historically, diagnosis has been challenging due to its complex symptoms and lack of definitive tests, often leading to misdiagnosis or patient frustration.

The research team employed Oxford BioDynamics’ advanced EpiSwitch® 3D Genomics technology to examine the spatial folding patterns of DNA within cells, identifying epigenetic changes unique to ME/CFS patients. Blood samples from 47 individuals with severe ME/CFS were compared with samples from 61 healthy controls. This technology moves beyond traditional genetic sequencing, focusing on dynamic gene regulation patterns linked to the disease.

The study revealed distinctive genomic signatures present only in ME/CFS patients, achieving 92% sensitivity and 98% specificity in diagnosis. The analysis also indicated immune system involvement and disrupted inflammatory pathways, uncovering biological targets for future therapies. These insights could help tailor treatments and better understand disease mechanisms.

Lead researcher Professor Dmitry Pshezhetskiy highlighted the test’s potential to provide earlier, more accurate diagnoses, enabling timely support and personalized medical management. Additionally, the team envisions adapting this approach to diagnose and treat long Covid, which shares symptomatic overlaps with ME/CFS.

This innovative blood test signifies a monumental step forward in chronic fatigue syndrome care, offering validation and hope to patients who have long struggled for recognition.

REFERENCE: Ewan Hunter, Heba Alshaker, Oliver Bundock, Cicely Weston, Shekinah Bautista, Abel Gebregzabhar, Anya Virdi, Joseph Croxford, Ann Dring, Ryan Powell, Dominik Vugrinec, Caroline Kingdon, Carol Wilson, Sarah Dowrick, Jayne Green, Alexandre Akoulitchev, Dmitri Pchejetski. Development and validation of blood-based diagnostic biomarkers for Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) using EpiSwitch® 3-dimensional genomic regulatory immuno-genetic profiling. Journal of Translational Medicine, 2025; 23 (1) DOI: 10.1186/s12967-025-07203-w