What is the role of lab tests in the workup of Gardner syndrome?

Updated: Apr 05, 2021
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: William D James, MD  more...
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Answer

Thyroid screening by physical examination and ultrasonography is recommended in Gardner syndrome. Chromosome studies from peripheral blood lymphocytes and allele-specific expression assay can be performed. Screen all first-degree relatives of patients with Gardner syndrome or FAP.

Most parents believed it was their responsibility to inform young family members about genetic testing results, an often emotionally challenging matter encouraging preventive screening and possible lifestyle adaptions. [25]


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