Peutz-Jeghers syndrome laboratory tests

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Hamid Qazi, MD, BSc [2]

Overview

Some patients with Peutz-Jeghers syndrome may have positive stool guaiac test and anemia, which are usually suggestive of colon cancer.

Laboratory Findings

The following laboratory tests may be helpful in the diagnosis of Peutz-Jeghers syndrome:

• Genetic testing:

• Genetic testing for STK11 (LKB1) gene

• Stool:

• Stool guaiac test

• Blood:

• Complete blood count (CBC) to detect anemia
• Serum iron, total iron-binding capacity, and serum ferritin to detect iron deficiency anemia