< Go Back

New DNA Test Will Cut Disease Diagnosis From Decades to Days

Australian, British, and Israeli researchers have developed a new DNA test that can identify a range of hard-to-diagnose, neurological and neuromuscular genetic diseases, both faster and more-accurately than current tests.  

When it comes to diagnosis for patients with these conditions, many of the current challenges faced are down to limitations of existing genetic testing methods and complex symptoms. The new test will help tackle these issues, cutting diagnostic times down from years to days.

Conceptual image of Molecule of DNA forming inside a test tube.

The new test will completely revolutionise how these diseases are diagnosed, helping to avoid misdiagnoses and helping patients to avoid years of unnecessary biopsies for diseases they don't have. This can include risky treatments that might suppress their immune system and lead to complications.

“We correctly diagnosed all patients with conditions that were already known, including Huntington's disease, fragile X syndrome, hereditary cerebellar ataxias, myotonic dystrophies, myoclonic epilepsies, motor neuron disease and more.” says Dr Ira Deveson, senior author of the study.   

The test works by scanning a patient's DNA sample using nanopore sequencing technology, with the sample usually being extracted from the patients blood. An added benefit of the Nanopore technology is that it’s smaller and cheaper than those used on current tests.  

The test has already been classified as accurate and is currently being tested, with plans to make it available to pathology services around the world. Once accredited, the test will also help to improve research into genetic diseases.

Article Credit -
Science Daily