Gardner Syndrome Workup

Updated: Apr 29, 2022
  • Author: Hemant Singhal, MD, MBBS, MBA, FRCS, FRCS(Edin), FRCSC; Chief Editor: John Geibel, MD, MSc, DSc, AGAF  more...
  • Print

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 (LFTs) 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 radiography, chest radiography, and skull radiography to evaluate for osteomas


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