Test Background
Features of neurofibromatosis 1 (NF1) include multiple cafe au lait spots, axillary and inguinal freckling, multiple discrete dermal neurofibromas, iris Lisch nodules. Most cases of NF1 are caused by point mutations. Deletions account for approximately 5% of cases. Only deletion analysis by MLPA is performed by this laboratory.
Gene(s)
NF1
Lab Method
MLPA
