Yes. NF1 can be diagnosed by sequencing a person's NF1 genes to identify mutations. Because of the NF1 gene's large size, and the high number of possible mutations that can occur, genetic testing is usually not practical - and very expensive.

One exception to this is for people who have a family history of NF1. If another family member has been tested, and the mutation has been identified, then it becomes relatively easy to look for that same mutation in other family members. Finding the mutation would then confirm the diagnosis of NF1.

Physicians usually won't recommend genetic testing for two simple reasons:

• A diagnosis of NF1 is fairly easy to confirm on the basis of its physical signs
• At this time, genetic testing offers no extra benefits for treatment

What would you do? If you knew that NF1 runs in your family, and your child began to show signs of NF1, would you want a genetic test to confirm it? Why or why not?