Neurofibromatosis type 1
- Recklinghausen's disease
- Type 1 neurofibromatosis
- Von Recklinghausen disease
Your QuestionI was recently diagnosed with neurofibromatosis type 1. Due to my mild symptoms, I believe that I may have segmental neurofibromatosis. Is there a test which can confirm this diagnosis?
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An individual with segmental neurofibromatosis has the NF1 gene mutation in only some cells of their body. On the other hand, an individual with neurofibromatosis type 1 will have the mutation in all of their cells.To test for neurofibromatosis type 1, a blood test can be done to look for a mutation in the NF1 gene. For an individual with segmental neurofibromatosis, the blood test may not be able to find a mutation. Instead of using blood, a small sample (biopsy) of affected skin or tumor can be tested for the NF1 mutation.
- Toy B. Segmental neurofibromatosis. Dermatology Online Journal. 2003; http://dermatology.cdlib.org/94/NYU/Apr2002/2.html. Accessed 12/9/2008.
- JM Friedman. Neurofibromatosis 1. GeneReviews. May 3, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1109/. Accessed 2/28/2014.
- Segmental NF: A Guide for Patients. Children’s Tumor Foundation. 2011; http://www.ctf.org/images/pdf/segmental_nf.pdf. Accessed 6/4/2012.