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How is NF2 diagnosed?

Getting a correct diagnosis is an important step in helping you to understand about Neurofibromatosis Type 2, what it means for you and your family, and how you adjust to the new information you receive.

When you first hear that you or a member of your family may have NF2, it can be upsetting. If you have never heard of this condition it can also feel frightening, especially as it has a long unfamiliar name.

NF2 is a genetic disorder that is caused by a misprint in a single gene on chromosome 22. The misprinted gene will be present at birth but signs of the condition do not usually appear until the teenage years, twenties or later. NF2 may be passed on from parent to child at the time of conception, or it may start in a family with no previous history of the disorder.

The doctor or GP who first talks to you about Neurofibromatosis may not be a specialist in the condition itself. They may suggest that you should have an appointment with other specialist doctors to confirm what is suspected. One of these specialist services is the genetics department. Genetics and genetic counselling is an NHS service based in regional hospitals. The doctors and professional team working there specialise in health conditions that can be inherited (passed on) in families. To access this service, you have to be referred by a doctor (either your GP or another specialist doctor caring for you).

Clinical genetics services help to make an accurate diagnosis. They can offer you information about Neurofibromatosis and explain what the diagnosis means for other members of the family. The doctor (geneticist) can answer questions about how the condition has occurred, what are the possible problems that can arise, and how best to manage these. They can discuss the choices you can make if you are planning to have children and the risks of passing an inherited condition on.

As NF2 is an unpredictable condition and varies from one person to another, it is not always possible to tell what may happen in the future. For this reason, it is helpful to find a doctor who you trust and who you feel will take your concerns seriously.

A diagnosis of NF2 means that you will need to have regular health checks. It is important that these checks are done so that potential health problems can be picked up early and assessed for any treatment that is available.

Different people manage their feelings about a new diagnosis in different ways. Some will want to find out as much information as possible. Others want to know just basic facts. These are different ways of adjusting to a new situation. There is no single right way.