Neurofibromatosis Clinic

Gene Testing

In the past, testing to determine whether an individual has the changed gene that causes either type of NF has required that at least two family members with NF and multiple family members without NF provide blood samples. This type of testing is called linkage analysis. Linkage analysis cannot be used to diagnose individuals who have no family history of NF.

Recently, direct gene testing has become available.  Direct gene testing means an individual can be tested without blood samples from other relatives.  Direct gene testing for NF1 can detect changes in the gene that causes NF1 in only 70% of people with NF.  Direct gene testing for NF2 is currently performed only in individuals known to have NF2.  Further research is necessary to make the testing for both NF1 and NF2 more accurate.

Accurate direct gene testing is helpful for individuals in whom the diagnosis of NF is unsure, for confirmation of diagnosis, and to test pregnancies if the parents wish to know whether a child will have NF.  Gene testing cannot predict how severely a child will be affected.

Also, see How Does a Person Get NF? and Areas of Research

UPMC Presbyterian Home Page | UPMC Health System Home Page

About UPMC | Health & Med Info | Find a Doctor | UPMC Health Plan | Info for Staff

© 2007 UPMC