Family testing for carriers of Alpha-1
Because Alpha-1 is a genetic condition, it can be passed down from generation to generation. That means a family with one member diagnosed with Alpha-1 could have other members with Alpha-1 or members who are carriers of an abnormal gene for AAT.
Finding out your Alpha-1 status usually involves blood tests, which indicate whether you are classified as normal (no deficiency), a carrier, or deficient.
The most common test measures the amount of alpha1-antitrypsin protein in the blood. Many clinical laboratories can run this test. Additional blood tests are called phenotyping and genotyping tests.
Alpha-1 genetic testing is mainly done when the amount of AAT in the blood is below normal. These tests pinpoint exactly what type of alpha1-antitrypsin protein the body makes. Only a few specialized labs can run these tests.
There is a free confidential testing program called the Alpha-1 Coded Testing (ACT) Study at the Medical University of South Carolina (MUSC). To have family members tested to determine their status, please call (877) 886-2383 or e-mail inquiries to firstname.lastname@example.org.
The best way to find out who else may be a carrier or have Alpha-1 is to do family testing, as recommended by the American Thoracic Society and by the European Respiratory Society. See full testing recommendations.1
Talk to your doctor about the advantages and disadvantages of family testing for Alpha-1.