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ClinGen Actionability A1AT

From SNPedia

This is a genotype with recommended actions if clinically confirmed. In brief:

  • Consider getting tested for A1AT deficiency.
  • Avoid smoking (and smoke) to reduce COPD risk.
  • Be aware of liver disease potential and need for monitoring; minimize alcohol consumption.
  • Reduce exposure to dust, fumes, gases and air pollutants if possible.
  • Those positive for A1AT deficiency should inform their relatives, especially siblings whose risk of A1AT deficiency is 25%.

The full ClinGen Actionability report about A1AT deficiency can be found here.

Genetic counseling may be available to you through your health-care network. Additional information is available via our Find A Genetic Counselor webpage, located here.