Cowden syndrome laboratory findings: Difference between revisions
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==Laboratory Findings== | ==Laboratory Findings== | ||
[[Laboratory]] findings consistent with the [[diagnosis]] of [[cowden syndrome]] include: | |||
*[[Complete blood count|CBC count:]] | |||
*[[Thyroid function tests]] | |||
*[[Urinalysis]] | |||
*[[Calcium]] level | |||
*[[Skin biopsy]] | |||
=== Gene testing === | |||
*''[[PTEN (gene)|PTEN]]'' [[Mutations|mutation]] testing by following: | *''[[PTEN (gene)|PTEN]]'' [[Mutations|mutation]] testing by following: | ||
**Sequence analysis of [[coding region]] | **Sequence analysis of [[coding region]] | ||
Revision as of 18:12, 7 March 2019
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Cowden syndrome Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Cowden syndrome laboratory findings On the Web |
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American Roentgen Ray Society Images of Cowden syndrome laboratory findings |
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Risk calculators and risk factors for Cowden syndrome laboratory findings |
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
Laboratory findings consistent with the diagnosis of cowden syndrome include:
Gene testing
- PTEN mutation testing by following:
- Sequence analysis of coding region
- Deletion/duplication analysis
- Sequence analysis of promoter region