Share on PinterestScientists are getting closer to accurately and quickly diagnosing chronic fatigue syndrome. Santi Nuñez/Stocksy
- There is no single test to diagnose chronic fatigue syndrome (CFS), also known as myalgic encephalomyelitis (ME).
- What makes its diagnosis particularly difficult is that most of its symptoms are shared with other conditions, such as fibromyalgia and multiple sclerosis.
- Researchers from the University of East Anglia and the biotechnology company Oxford Biodynamics have developed a blood test that is 96% accurate in diagnosing ME/CFS.
Researchers estimate that at least between 17-24 million people around the world live with chronic fatigue syndrome (CFS), medically known as myalgic encephalomyelitis (ME).
ME/CFS is a neurological disorder that negatively impacts several body systems and functions. Symptoms of ME/CFS include extreme fatigue, enlarged lymph nodes, flu-like symptoms, muscle cramps, and hair loss.
There is currently no one test to diagnose ME/CFS. This can make the condition hard to diagnose, as most of its symptoms are shared with other diseases.
“For decades, people living with ME/CFS have faced enormous challenges in getting a clear diagnosis,” Dmitry Pshezhetskiy, MBBS, PhD, professorial research fellow at the Norwich Medical School at the University of East Anglia in the U.K., told Medical News Today.
“The symptoms are real, often severe, and life-changing, yet there has been no objective medical test to confirm the condition. Diagnosis has depended entirely on history, symptom checklists, and the exclusion of other diseases. Many studies have been done, and they all showed that there is no single biomarker for ME/CFS, outlining its multifactorial nature,” he said.
Pshezhetskiy is the lead author of a new study recently published in the Journal of Translational Medicine where researchers from the University of East Anglia and biotechnology company Oxford Biodynamics have developed a blood test for diagnosing ME/CFS with 96% accuracy.
How does the ME/CFS blood test work?
For this study, researchers utilized blood samples from 47 study participants with severe ME/CFS and 61 healthy control participants, along with Oxford Biodynamics’ EpiSwitch® 3D Genomics technology to create the blood test.
“The test examines how DNA is folded inside our cells — what we call 3D genomics,” Pshezhetskiy explained. “You can think of DNA like an origami that’s folded in very specific ways. Those folds act like switches, turning genes on or off.”
“In people with ME/CFS, we discovered a distinctive pattern in these DNA folds that isn’t seen in healthy individuals,” he continued. “Using this information, we can detect that unique biological ‘signature’ in a small blood sample. It’s simple, non-invasive, and very precise.”
Diagnosing ME/CFS with accuracy and speed
At the study’s conclusion, researchers found that the new ME/CFS blood test could diagnose the condition with a 96% accuracy rate.
Quicker diagnosis for CFS
“That level of accuracy is extremely high for a complex, multifactorial condition like ME/CFS,” Pshezhetskiy said. “It means the test can correctly identify almost all true cases while also avoiding false positives. In practice, it gives doctors confidence to make a definitive diagnosis, rather than relying on long and often frustrating exclusion processes. It could dramatically reduce the years many patients spend searching for answers.”
— Dmitry Pshezhetskiy, MBBS, PhD
In addition to testing for ME/CFS, Pshezhetskiy believes this new test may also help develop future therapies for the condition.
“While developing the test, we checked over 1 million chromosome conformations and found more than 200 that are altered in ME/CFS,” Pshezhetskiy detailed. “Each conformation corresponds to a signaling pathway, and when you analyze those, you get a signaling map with hubs that you can target with existing treatments.”
“Our results suggest that immune and inflammatory pathways are disrupted in ME/CFS. Knowing which systems are involved can guide new treatment strategies and help identify which patients are most likely to respond best to specific therapies. In other words, diagnosis opens the door to targeted treatment,” he added.
Hope for patients to explain their symptoms fully
MNT spoke with David Cutler, MD, a board certified family medicine physician at Providence Saint John’s Health Center in Santa Monica, CA, about this study.
Cutler commented that while there is currently no single diagnostic test or known cause for ME/CFS, new research offers the hope of a diagnostic test that can assure patients that their symptoms — such as months of substantial fatigue, malaise after exercise, and unrefreshing sleep — can be fully explained.
“It would be very useful for physicians so that they can stop searching for other causes of common CFS symptoms such as brain fog, dizziness, muscle pains, headaches, swollen lymph nodes, light sensitivity, and memory loss,” he explained. “Searching for other causes can be worrisome, time consuming, expensive, and generally unrewarding.”
“Until now, no single blood test has confirmed with any degree of certainty who does and who does not have chronic fatigue syndrome, and this one recent study does suggest greater than 90% accuracy in diagnosing or excluding this ailment. However, the study only looked at 47 patients and only those with the most severe symptoms. So, it is uncertain how accurate this test will be when applied to the general population.”
— David Cutler, MD
More studies needed to validate accuracy
MNT also talked to Swapnil Patel, MD, MHCM, FACP, a board certified internist and vice chairman of the Department of Medicine at Hackensack Meridian Jersey Shore University Medical Center in New Jersey, about this research who commented that it’s great to see ongoing research focused on the evaluation and diagnosis of ME/CFS.
“This condition has long been difficult to diagnose and frustrating for patients seeking answers,” Patel said. “Any advancement that helps identify objective markers is a step in the right direction. I’d like to see additional studies that not only validate this test, but also explore how these findings could guide effective treatment options for patients.”
What’s the cause of fatigue?
“CFS has typically been a diagnosis of exclusion. We often evaluate patients for a wide range of possible causes of fatigue — including metabolic abnormalities, thyroid disorders, vitamin deficiencies, and autoimmune diseases — before considering CFS. The development of a reliable blood test could finally provide patients and physicians with a clear answer when other explanations don’t fit, helping to validate patients’ experiences and improve early recognition.”
— Swapnil Patel, MD, MHCM, FACP
“Before this test can be used in clinical practice, I’d like to see additional large-scale studies to validate its accuracy and reproducibility,” Patel added. “It’s important to know how well it distinguishes CFS from other causes of chronic fatigue and whether it performs consistently across diverse populations. Ultimately, diagnosis is only the first step — I’d also like to see research focused on how this test could lead to new or more targeted treatment options for patients.”
