Gardner Syndrome Workup
- Author: Hemant Singhal, MD, MBBS, FRCSE, FRCS(C); Chief Editor: John Geibel, MD, DSc, MA more...
Laboratory Studies
- Testing of peripheral leukocytes to evaluate for the APC gene and its mutation
- Complete blood cell (CBC) count, carcinoembryonic antigen testing, and liver function tests to evaluate for possible metastasis
- Thyroid function tests
Imaging Studies
- Computed tomography (CT) scan of the abdomen and pelvis
- Panoramic dental radiograph, chest radiograph, and skull radiograph to evaluate for osteomas
Other Tests
- Slit-lamp examination and indirect ophthalmoscopy to evaluate for congenital hypertrophy of the retinal pigmented epithelium (CHRPE)
Diagnostic Procedures
- Colonoscopy with direct visualization of polyps that carpet the colon - Criterion standard for the diagnosis of familial adenomatous polyposis
- Esophagogastroduodenoscopy (EGD) for evaluation of gastric and duodenal polyps
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