Neurofibromatosis type 1 laboratory findings: Difference between revisions
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==Overview== | ==Overview== | ||
[[Metabolic]] and [[chemical]] [[Laboratory|laboratory studies]] usually appear normal in individuals with [[neurofibromatosis type 1]]. | [[Metabolic]] and [[chemical]] [[Laboratory|laboratory studies]] usually appear normal in individuals with [[neurofibromatosis type 1]]. [[NF1|NF1 gene]] [[mutation]] can be diagnosed using [[Genetic linkage|linkage analysis]] and [[DNA sequencing|gene sequencing]]. | ||
[[NF1|NF1 gene]] [[mutation]] can be diagnosed using [[Genetic linkage|linkage analysis]] and [[DNA sequencing|gene sequencing]]. | |||
==Laboratory Findings== | ==Laboratory Findings== | ||
* [[NF1|NF1 gene]] [[mutation]] can be diagnosed using: | *[[NF1|NF1 gene]] [[mutation]] can be diagnosed using: | ||
**[[Genetic linkage|Linkage analysis]].<ref name="pmid12566521" /><ref name="pmid17636453" /><ref name="urlNeurofibromatosis Type 1 Workup: Laboratory Studies, Imaging Studies, Other Tests" /> | **[[Genetic linkage|Linkage analysis]].<ref name="pmid12566521">{{cite journal |vauthors=Messiaen L, Riccardi V, Peltonen J, Maertens O, Callens T, Karvonen SL, Leisti EL, Koivunen J, Vandenbroucke I, Stephens K, Pöyhönen M |title=Independent NF1 mutations in two large families with spinal neurofibromatosis |journal=J. Med. Genet. |volume=40 |issue=2 |pages=122–6 |date=February 2003 |pmid=12566521 |pmc=1735368 |doi=10.1136/jmg.40.2.122 |url=}}</ref><ref name="pmid17636453">{{cite journal |vauthors=Radtke HB, Sebold CD, Allison C, Haidle JL, Schneider G |title=Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors |journal=J Genet Couns |volume=16 |issue=4 |pages=387–407 |date=August 2007 |pmid=17636453 |pmc=6338721 |doi=10.1007/s10897-007-9101-8 |url=}}</ref><ref name="urlNeurofibromatosis Type 1 Workup: Laboratory Studies, Imaging Studies, Other Tests" /> | ||
** [[DNA sequencing]].<ref name="pmid12566521" /><ref name="pmid17636453" /><ref name="urlNeurofibromatosis Type 1 Workup: Laboratory Studies, Imaging Studies, Other Tests" /> | **[[DNA sequencing]].<ref name="pmid12566521" /><ref name="pmid17636453" /><ref name="urlNeurofibromatosis Type 1 Workup: Laboratory Studies, Imaging Studies, Other Tests" /> | ||
**[[Cytogenetic analysis]]<ref name="pmid1770531" /><ref name="pmid15811002">{{cite journal |vauthors=Alwan S, Tredwell SJ, Friedman JM |title=Is osseous dysplasia a primary feature of neurofibromatosis 1 (NF1)? |journal=Clin. Genet. |volume=67 |issue=5 |pages=378–90 |date=May 2005 |pmid=15811002 |doi=10.1111/j.1399-0004.2005.00410.x |url=}}</ref><ref name="pmid20301288" /> | **[[Cytogenetic analysis]]<ref name="pmid1770531" /><ref name="pmid15811002">{{cite journal |vauthors=Alwan S, Tredwell SJ, Friedman JM |title=Is osseous dysplasia a primary feature of neurofibromatosis 1 (NF1)? |journal=Clin. Genet. |volume=67 |issue=5 |pages=378–90 |date=May 2005 |pmid=15811002 |doi=10.1111/j.1399-0004.2005.00410.x |url=}}</ref><ref name="pmid20301288" /> | ||
**[[CMAS (gene)|CMA]]<ref name="pmid20301288">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Friedman JM |title= |journal= |volume= |issue= |pages= |date= |pmid=20301288 |doi= |url=}}</ref> | **[[CMAS (gene)|CMA]]<ref name="pmid20301288">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Friedman JM |title= |journal= |volume= |issue= |pages= |date= |pmid=20301288 |doi= |url=}}</ref> | ||
| Line 19: | Line 17: | ||
**Gene-targeted deletion/duplication analysis <ref name="pmid1770531">{{cite journal |vauthors=Allanson JE, Upadhyaya M, Watson GH, Partington M, MacKenzie A, Lahey D, MacLeod H, Sarfarazi M, Broadhead W, Harper PS |title=Watson syndrome: is it a subtype of type 1 neurofibromatosis? |journal=J. Med. Genet. |volume=28 |issue=11 |pages=752–6 |date=November 1991 |pmid=1770531 |pmc=1017110 |doi=10.1136/jmg.28.11.752 |url=}}</ref><ref name="pmid20301288" /> | **Gene-targeted deletion/duplication analysis <ref name="pmid1770531">{{cite journal |vauthors=Allanson JE, Upadhyaya M, Watson GH, Partington M, MacKenzie A, Lahey D, MacLeod H, Sarfarazi M, Broadhead W, Harper PS |title=Watson syndrome: is it a subtype of type 1 neurofibromatosis? |journal=J. Med. Genet. |volume=28 |issue=11 |pages=752–6 |date=November 1991 |pmid=1770531 |pmc=1017110 |doi=10.1136/jmg.28.11.752 |url=}}</ref><ref name="pmid20301288" /> | ||
* [[Metabolic]] and [[chemical]] laboratory studies usually appear normal in individuals with [[neurofibromatosis type 1]].<ref name="urlwww.aeped.es">{{cite web |url=https://www.aeped.es/sites/default/files/documentos/protocolo_de_seguimiento_de_la_neurofibromatosis_tipo_1.pdf |title=www.aeped.es |format= |work= |accessdate=}}</ref> | *[[Metabolic]] and [[chemical]] laboratory studies usually appear normal in individuals with [[neurofibromatosis type 1]].<ref name="urlwww.aeped.es">{{cite web |url=https://www.aeped.es/sites/default/files/documentos/protocolo_de_seguimiento_de_la_neurofibromatosis_tipo_1.pdf |title=www.aeped.es |format= |work= |accessdate=}}</ref> | ||
* Urinary free [[catecholamines]] measured on a [[24-hour urine]] may appear elevated in patients with [[neurofibromatosis type 1]] and concomintant [[pheochromocytoma]].<ref name="urlNeurofibromatosis Type 1 Workup: Laboratory Studies, Imaging Studies, Other Tests">{{cite web |url=https://emedicine.medscape.com/article/1177266-workup |title=Neurofibromatosis Type 1 Workup: Laboratory Studies, Imaging Studies, Other Tests |format= |work= |accessdate=}}</ref> | *Urinary free [[catecholamines]] measured on a [[24-hour urine]] may appear elevated in patients with [[neurofibromatosis type 1]] and concomintant [[pheochromocytoma]].<ref name="urlNeurofibromatosis Type 1 Workup: Laboratory Studies, Imaging Studies, Other Tests">{{cite web |url=https://emedicine.medscape.com/article/1177266-workup |title=Neurofibromatosis Type 1 Workup: Laboratory Studies, Imaging Studies, Other Tests |format= |work= |accessdate=}}</ref> | ||
==References== | ==References== | ||
Latest revision as of 14:35, 1 September 2020
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Neurofibromatosis type 1 Microchapters |
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Differentiating Neurofibromatosis type 1 from other Diseases |
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Neurofibromatosis type 1 laboratory findings On the Web |
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American Roentgen Ray Society Images of Neurofibromatosis type 1 laboratory findings |
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Risk calculators and risk factors for Neurofibromatosis type 1 laboratory findings |
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
|title=(help) - ↑ "www.aeped.es" (PDF).