University of Florida
The Alpha-1 Coded Testing (ACT) Study was established to study genetic testing and outcomes of individuals at risk for alpha-1 antitrypsin deficiency.
Genetic testing for alpha-1 antitrypsin deficiency is sometimes delayed despite established testing indications. All genetic tests have risks and possible benefits. The ACT study evaluates the population demographics, reasons for testing, and outcomes through a confidential testing program. Co-morbidities of alpha-1 antitrypsin deficiency other than lung and liver disease are being investigated. Concerns about genetic confidentiality are lessened in this study by a coded testing procedure that returns results through the mail to study participants.
Inclusion Criteria: * Individuals of any age at risk for alpha-1 antitrypsin deficiency on the basis of symptoms or family genetic risk. Exclusion Criteria: * Any person who has already had genotype and AAT level testing completed and has a qualified result.
Home fingerstick testing for alpha-1 antitrypsin genotype
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