A new test provides a much more complete picture of DNA than current standard diagnostics and leads to a diagnosis more often. The test can replace 15 other tests, making it faster and more efficient. Researchers from Radboud university medical center recommend in the New England Journal of Medicine that this test be adopted everywhere as the first choice for rare genetic disorders.

A condition is considered rare if it affects fewer than 1 in 2000 people. Nevertheless, up to 400 million people worldwide have a rare disease, as there are more than 7,000 different types. Eighty percent of these have a genetic cause. A diagnosis often takes years to obtain. Yet a diagnosis is important: It provides clarity, insight into the future, contact with others in similar situations, and the possibility to assess risks when planning to have children.

Researchers from Radboudumc and Maastricht UMC+ are working together to increase the chances of diagnosing genetic disorders. They compared current standard diagnostics—often involving multiple tests to reach a diagnosis—with a new DNA test in 1000 patients.