Neurofibromatosis Type 1
Neurofibromatosis Type 2
Neurofibromatosis is a multi-system disorder that affects the way cells form and grow, resulting in benign tumors, particularly on nerve cells, and a variety of cutaneous findings. The two most common types are neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2). NF1 is one of the most common autosomal dominant disorders and is characterized by café-au-lait spots on the skin, neurofibromas on or under the skin, and risk for optic gliomas and other ocular findings. Some children also have learning disabilities. Osseous lesions, such as tibial pseudoarthrosis or sphenoid dysplasia may also be present.
NF2 is rarer and symptoms may go unnoticed until adulthood. It is primarily recognized by the development of vestibular schwannomas which may lead to hearing loss, tinnitus, and balance issues. People with NF2 may also develop meningiomas, gliomas, neurofibromas, or cataracts in the form of subcapsular lenticular opacities or cortical wedge cataracts. Children may present with skin plaques.
In addition to NF1 and NF2, this panel includes SPRED1, associated with Legius syndrome, a condition with a phenotype overlapping NF1 with fewer tumor manifestations.
Who is this test for?
This panel may be appropriate for anyone with a personal or family history of either type of neurofibromatosis and its associated symptoms.
What are the potential benefits for my patient?
Genetic testing can help confirm a diagnosis of NF1 or NF2. Both of these conditions have consensus management recommendations, allowing for optimal care.
Genetic testing for neurofibromatosis can:
- Establish or confirm the appropriate diagnosis
- Identify risks for additional health-related symptoms
- Assist in modifying lifestyle changes
- Result in more personalized treatment and symptom management
- Inform family members about their own risk factors
- Connect patients to relevant resources & support
- Provide options for family planning