Neurofibromatosis type 1 laboratory findings
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Moises Romo M.D.
Overview
Metabolic and chemical laboratory studies usually appear normal in individuals with neurofibromatosis type 1. NF1 gene mutation can be diagnosed using linkage analysis and gene sequencing.
Laboratory Findings
- Metabolic and chemical laboratory studies usually appear normal in individuals with neurofibromatosis type 1.[7]
- Urinary free catecholamines measured on a 24-hour urine may appear elevated in patients with neurofibromatosis type 1 and concomintant pheochromocytoma.[3]
References
- ↑ 1.0 1.1 Messiaen L, Riccardi V, Peltonen J, Maertens O, Callens T, Karvonen SL, Leisti EL, Koivunen J, Vandenbroucke I, Stephens K, Pöyhönen M (February 2003). "Independent NF1 mutations in two large families with spinal neurofibromatosis". J. Med. Genet. 40 (2): 122–6. doi:10.1136/jmg.40.2.122. PMC 1735368. PMID 12566521.
- ↑ 2.0 2.1 Radtke HB, Sebold CD, Allison C, Haidle JL, Schneider G (August 2007). "Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors". J Genet Couns. 16 (4): 387–407. doi:10.1007/s10897-007-9101-8. PMC 6338721. PMID 17636453.
- ↑ 3.0 3.1 3.2 "Neurofibromatosis Type 1 Workup: Laboratory Studies, Imaging Studies, Other Tests".
- ↑ 4.0 4.1 4.2 Allanson JE, Upadhyaya M, Watson GH, Partington M, MacKenzie A, Lahey D, MacLeod H, Sarfarazi M, Broadhead W, Harper PS (November 1991). "Watson syndrome: is it a subtype of type 1 neurofibromatosis?". J. Med. Genet. 28 (11): 752–6. doi:10.1136/jmg.28.11.752. PMC 1017110. PMID 1770531.
- ↑ 5.0 5.1 Alwan S, Tredwell SJ, Friedman JM (May 2005). "Is osseous dysplasia a primary feature of neurofibromatosis 1 (NF1)?". Clin. Genet. 67 (5): 378–90. doi:10.1111/j.1399-0004.2005.00410.x. PMID 15811002.
- ↑ 6.0 6.1 6.2 6.3 Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Friedman JM. PMID 20301288. Vancouver style error: initials (help); Missing or empty
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