Gardner Syndrome Workup

Updated: May 24, 2016
  • Author: Hemant Singhal, MD, MBBS, MBA, FRCS(Edin), FRCS, FRCSC; Chief Editor: John Geibel, MD, DSc, MSc, AGAF  more...
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Laboratory Studies

Laboratory studies that may be useful include the following:

  • Testing of peripheral leukocytes to evaluate for APC and its mutation
  • Complete blood count (CBC), carcinoembryonic antigen (CEA) testing, and liver function tests to evaluate for possible metastasis
  • Thyroid function tests

Imaging Studies

Imaging studies that may be helpful are as follows:

  • Computed tomography (CT) of the abdomen and pelvis
  • Panoramic dental radiograph, chest radiograph, and skull radiograph to evaluate for osteomas

Diagnostic Procedures

Diagnostic procedures that may be useful include the following:

  • Slit-lamp examination and indirect ophthalmoscopy to evaluate for congenital hypertrophy of the retinal pigmented epithelium (CHRPE)
  • Colonoscopy with direct visualization of polyps that carpet the colon - Criterion standard for the diagnosis of familial adenomatous polyposis (FAP)
  • Esophagogastroduodenoscopy (EGD) for evaluation of gastric and duodenal polyps