Long-read DNA test lifts rare disease diagnoses and could replace 15 other tests

Article excerpt

Researchers at Radboud University Medical Center have developed a long-read DNA test that diagnoses rare genetic disorders more effectively than current standard approaches, according to findings published in the New England Journal of Medicine. The new test provides a more complete picture of DNA and can replace 15 other diagnostic tests, streamlining what has traditionally been a lengthy, fragmented process. The researchers recommend adopting this single test as the first-line diagnostic choice for rare genetic disorders worldwide, potentially accelerating diagnoses for patients who have spent years seeking answers.