Gardner Syndrome Workup

  • Author: Hemant Singhal, MD, MBBS, FRCSE, FRCS(C); Chief Editor: John Geibel, MD, DSc, MA   more...
 
Updated: Jan 6, 2012
 

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
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Imaging Studies

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

  • Slit-lamp examination and indirect ophthalmoscopy to evaluate for congenital hypertrophy of the retinal pigmented epithelium (CHRPE)
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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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Contributor Information and Disclosures
Author

Hemant Singhal, MD, MBBS, FRCSE, FRCS(C)  Senior Lecturer, Director of Breast Service, Department of Surgery, Imperial College School of Medicine; Consultant Surgeon, Northwick Park and St Marks Hospitals, UK

Hemant Singhal, MD, MBBS, FRCSE, FRCS(C) is a member of the following medical societies: Royal College of Physicians and Surgeons of Canada and Royal College of Surgeons of Edinburgh

Disclosure: Nothing to disclose.

Coauthor(s)

Scott M Hovis, MD  Staff Physician, Department of General Surgery, Spartanburg Regional Medical Center

Scott M Hovis, MD is a member of the following medical societies: American Medical Association and South Carolina Medical Association

Disclosure: Nothing to disclose.

Sidney R Steinberg, MD, FACS  Program Director, Department of General Surgery, Spartanburg Regional Healthcare System; Consulting Surgeon, Department of Surgery, WG Hefner Veterans Affairs Medical Center

Sidney R Steinberg, MD, FACS is a member of the following medical societies: American College of Surgeons, American Medical Association, Association for Surgical Education, South Carolina Medical Association, and Southeastern Surgical Congress

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD  Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

David L Morris, MD, PhD, FRACS  Professor, Department of Surgery, St George Hospital, University of New South Wales, Australia

David L Morris, MD, PhD, FRACS is a member of the following medical societies: British Society of Gastroenterology

Disclosure: RFA Medical None Director; MRC Biotec None Director

Paolo Zamboni, MD  Professor of Surgery, Chief of Day Surgery Unit, Chair of Vascular Diseases Center, University of Ferrara, Italy

Paolo Zamboni, MD is a member of the following medical societies: American Venous Forum and New York Academy of Sciences

Disclosure: Nothing to disclose.

Chief Editor

John Geibel, MD, DSc, MA  Vice Chair and Professor, Department of Surgery, Section of Gastrointestinal Medicine, and Department of Cellular and Molecular Physiology, Yale University School of Medicine; Director, Surgical Research, Department of Surgery, Yale-New Haven Hospital

John Geibel, MD, DSc, MA is a member of the following medical societies: American Gastroenterological Association, American Physiological Society, American Society of Nephrology, Association for Academic Surgery, International Society of Nephrology, New York Academy of Sciences, and Society for Surgery of the Alimentary Tract

Disclosure: AMGEN Royalty Consulting; ARdelyx Ownership interest Board membership

Additional Contributors

The authors and editors of eMedicine gratefully acknowledge the contributions of previous coauthor, William T Cummins, MD, to the development and writing of this article.

References
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