Clinical diagnosis. The best test for neutofibromatosis is a physical examination by a practitioner familiar with the nih criteria.
Prenatal tests. There are prenatal genetic tests for neurofibromatosis. While test results can provide very important information for future parents. Genetic tests available today can be performed only when there is a family history of nf; prenatal tests include chorionic villus sampling can be performed at 10 weeks gestation. Amnioncentesis is performed at 16 weeks.
To diagnose. Genetic testing looks for a mutation in the nf1 gene on chromosome 17 or the nf 2 gene on chromosome 22, depending on which one the primary care doctor or geneticist thinks it is. If a parent has nf 1or 2, each of his/her children has a 50% chance of inheriting it. In 50% of cases, it is a new mutation. Symptoms vary in individuals, even within families. See http://www.Ctf.Org for info and support.