Diagnostic testing

What is the best way to diagnose Lesch-Nyhan disease? What is the best way to tell if an infant or young child will get the full disease, or a milder variant form of it? Once a is child is diagnosed, what is the best way to find out if his mother or sisters are silent carriers?

Researchers across the world use several different tests for each of these purposes. All of the tests seem to work, and different researchers like different tests. Are they all right, or is there a best test?

The answer to these questions requires that the tests be compared. This is why many doctors ask for more than one test. As experience grows, we will develop a better idea of which tests might be best for which problems.