Cowden syndrome laboratory findings

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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 cowden syndrome include:

• CBC count:
• Thyroid function tests
• Urinalysis
• Calcium level
• Skin biopsy

OR

Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].

Mutation testing

• PTEN mutation testing by following:
  • Sequence analysis of coding region
  • Deletion/duplication analysis
  • Sequence analysis of promoter region