Neurofibromatosis Screening

Neurofibromatosis screening tests can be performed prenatally (while a fetus is in utero) to help determine whether an individual will be born with the condition. However, prenatal neurofibromatosis tests are typically only given when one or both parents have the condition. Genetic testing can also be provided to children and adolescents who have the “café au lait” skin discolorations that are traditionally associated with neurofibromatosis, but who do not have any other symptoms (e.g., tumors) that are required for a clinical diagnosis.

Genetic testing can identify type 1 and type 2 neurofibromatosis with a high degree of certainty, but testing options for schwannomatosis are limited. A screening test for neurofibromatosis (either type 1 or type 2) can have three possible results:

• Positive – The DNA mutation associated with type 1 or type 2 neurofibromatosis is present
• Negative – The DNA mutation is not present
• Inconclusive – The presence of the DNA mutation is unclear

When considering neurofibromatosis screening, it’s important to remember that genetic tests can only identify chromosomal mutations that are associated with the condition. Currently, it is not possible to predict how mild – or how symptomatic – a patient’s neurofibromatosis might become, or whether cancer will occur. Some patients develop symptoms that become more and more noticeable with time, while other patients experience few – if any – symptoms throughout their lives. 

At Moffitt Cancer Center, we offer a comprehensive range of diagnostic testing services for neurofibromatosis, including prenatal genetic tests. To learn more about the neurofibromatosis screening tests we provide, call 1-888-663-3488 or submit a new patient registration form online; no referral is required to schedule an appointment.