There are an estimated 90,000 undiagnosed Americans living with Alpha-1 Antitrypsin Deficiency (Alpha-1). Alpha-1 is a genetic condition that is passed on by parents to their children through their genes and can cause serious liver disease in children and liver and/or lung disease in adults. Most people with Alpha-1 can extend and improve the quality of their lives through early diagnosis, behavioral and lifestyle changes and through access to treatment to slow the progression of lung disease.
Individuals with any of the following histories or diagnoses should be tested for Alpha-1:
Due to the potential genetic issues surrounding Alpha-1 testing, it is important that individuals at risk for Alpha-1 have an understanding of the disorder and its manifestations and also learn how to make informed decisions BEFORE testing. Individuals considering testing for Alpha-1 should call the Association's genetic counselor at 1-800-785-3177.
The Alpha-1 Association's certified genetic counselor provides free and confidential guidance to individuals considering testing. This discussion includes the potential risks and benefits of testing, such as genetic discrimination. In addition, the genetic counselor can discuss the testing options available, such as the Alpha-1 Coded Testing Study which provides free and confidential at-home testing for Alpha-1, and helps individuals understand their test results.
The Alpha-1 Association and Alpha-1 Foundation provide resources and information for individuals considering testing.