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.[1]
NF1 gene mutation can be diagnosed using linkage analysis and gene sequencing.[2][3][4]
Laboratory Findings
- Metabolic and chemical laboratory studies usually appear normal in individuals with neurofibromatosis type 1.[1]
- Urinary free catecholamines measured on a 24-hour urine may appear elevated in patients with neurofibromatosis type 1 and concomintant pheochromocytoma.[4]
References
- ↑ 1.0 1.1 "www.aeped.es" (PDF).
- ↑ 2.0 2.1 2.2 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.
- ↑ 3.0 3.1 3.2 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.
- ↑ 4.0 4.1 4.2 4.3 "Neurofibromatosis Type 1 Workup: Laboratory Studies, Imaging Studies, Other Tests".
- ↑ 5.0 5.1 5.2 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.
- ↑ 6.0 6.1 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.
- ↑ 7.0 7.1 7.2 7.3 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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