Different ways to seek diagnosis

Wilhelm Foundation believes that all children who have an undiagnosed disease have the right to a genetic investigation even a second opinion.

If the child has never carried out a genetic investigation, we think that the parents should ask for a referral to a genetic investigation.

If a genetic investigation was done a few years ago, it may be time to redo it. Genetics and genetic investigation methods have developed enormously in recent years and continue to develop, which is why a new genetic investigation may be an opportunity to get a diagnosis for the child.

Shows a lab
Wilhelm Foundation's 6:th world congress in Pozzuoli, Italy together with Dr Gahl, UDP NIH and Telethon. The photo is from Telethon's lab.

 

Is the child still undiagnosed

If the undiagnosed child has recently undergone a genetic examination at one of the university hospitals and still is undiagnosed, there may be an opportunity to apply to an Undiagnosed Diseases Program (UDP), which is a center for diagnosis. Read more under UDP Undiagnosed Diseases Program.