Effective treatment starts with an accurate diagnosis. Our specialists complete a comprehensive assessment to diagnose NF. This includes reviewing your symptoms and medical history and performing a physical exam to look for skin spots or growths, masses under the skin, and scoliosis. You may also receive tests to check your vision, hearing, and balance.
Other tests your doctor may recommend include:
Imaging tests, such as MRI, CT scan, and ultrasound tests, look for tumors in your brain, spinal cord, or other areas of your body.
The most accurate way to diagnose neurofibromatosis is genetic testing to find out if you have a mutation in one of the genes that cause NF1 or NF2. Your doctor may also recommend genetic counseling and testing for your family members. Our genetic counselors can help determine who in your family carries the NF1 or NF2 mutation and check for patterns of family inheritance.