Cowden syndrome laboratory findings: Difference between revisions
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Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication]. | Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication]. | ||
'''Mutation testing'''<ref name="pmid216593472">{{cite journal |vauthors=Pilarski R, Stephens JA, Noss R, Fisher JL, Prior TW |title=Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features |journal=J. Med. Genet. |volume=48 |issue=8 |pages=505–12 |date=August 2011 |pmid=21659347 |doi=10.1136/jmg.2011.088807 |url=}}</ref><ref name="pmid24136893">{{cite journal |vauthors=Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E |title=Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria |journal=J. Natl. Cancer Inst. |volume=105 |issue=21 |pages=1607–16 |date=November 2013 |pmid=24136893 |doi=10.1093/jnci/djt277 |url=}}</ref> | |||
*''[[PTEN (gene)|PTEN]]'' [[Mutations|mutation]] testing by following: | |||
**Sequence analysis of [[coding region]] | |||
**Deletion/duplication analysis | |||
**Sequence analysis of [[promoter region]] | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Revision as of 16:16, 7 March 2019
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Overview
An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of [disease name].
OR
Laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].
OR
[Test] is usually normal for patients with [disease name].
OR
Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].
OR
There are no diagnostic laboratory findings associated with [disease name].
Laboratory Findings
There are no diagnostic laboratory findings associated with [disease name].
OR
An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of [disease name].
OR
[Test] is usually normal among patients with [disease name].
OR
Laboratory findings consistent with the diagnosis of [disease name] include:
- [Abnormal test 1]
- [Abnormal test 2]
- [Abnormal test 3]
OR
Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].
- PTEN mutation testing by following:
- Sequence analysis of coding region
- Deletion/duplication analysis
- Sequence analysis of promoter region
References
- ↑ Pilarski R, Stephens JA, Noss R, Fisher JL, Prior TW (August 2011). "Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features". J. Med. Genet. 48 (8): 505–12. doi:10.1136/jmg.2011.088807. PMID 21659347.
- ↑ Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E (November 2013). "Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria". J. Natl. Cancer Inst. 105 (21): 1607–16. doi:10.1093/jnci/djt277. PMID 24136893.