Neurofibromatosis is a group of genetic conditions causing tumors affecting nerve tissue, skin, and bones. The most common are Neurofibromatosis Type 1 (NF1) and Neurofibromatosis Type 2 (NF2). These are autosomal dominant disorders, meaning a 50% chance of being transmitted from an affected individual to his/her children. These conditions can be inherited from an affected parent in about 50% of affected individuals and from new (spontaneous) variants in about 50% of cases:

NF1 is caused by variants in the NF1 gene, and it is one of the most common autosomal dominant genetic disorders, affecting about 1 in 2,000 people. NF1 is a multisystem disorder characterized by multiple café au lait macules (skin spots), freckling, multiple cutaneous nerve tumours (neurofibromas), and learning disability or behavioral problems.

NF2 is caused by variants in the NF2 gene, and its estimated prevalence is 1:50,000. It is characterized by bilateral vestibular schwannomas (a benign nerve sheath tumor composed of Schwann cells affecting the vestibular nerve) with associated symptoms of tinnitus, hearing loss, and balance problems.

This panel is efficient in differential diagnosis of neurofibromatosis and familial schwannomatosis (SMARCB1 and LZTR1). For a more comprehensive analysis, including more genes associated with differential diagnosis, we recommend using our Comprehensive Hereditary Cancer Panel.