Diagnosis and Testing
How do I get tested for alpha-1 antitrypsin deficiency?
You can get tested for alpha-1 antitrypsin deficiency (AATD) in different ways. A diagnosis can be made by measuring the level of the alpha-1 antitrypsin (AAT) protein in someone's blood. In people with AATD, this is much lower than usual. Specialized testing, called biochemical testing or PI typing, looks at the AAT protein forms in detail to determine if someone has AATD. Genetic testing can also study the sequence (spelling) of the DNA that make up the SERPINA1 gene, which is associated with AATD. This can find about 95% of people with AATD. People with AATD have two mutations in the SERPINA1 gene, one in each of their gene copies. Genetic testing can also find AATD carriers, who only have a mutation in one copy of their SERPINA1 genes.
Medical recommendations have been made about who should be tested for AATD, which include:
- Anyone with chronic obstructive pulmonary disease (COPD), regardless of age or ethnic background
- Anyone with unexplained chronic liver disease
- Anyone with nectrotizing panniculitis, granulomatosis with polyangiitis, or unexplained bronchiectasis (all can be complications of AATD)
- Following genetic counseling, parents/siblings/children/extended family of anyone found to have a SERPINA1 gene mutation
If you want to learn whether genetic testing for AATD may be right for you or your family member, speak to your healthcare provider about a referral to see a genetic counselor near you. In the U.S., the Alpha-1 Foundation provides free telephone-based genetic counseling and you can reach this service by calling 1-800-785-3177. Genetic counselors can be found on the National Society of Genetic Counselors website.
As of 2017, the Alpha-1 Foundation and Medical University of South Carolina also make free and confidential testing available for alpha-1 antitrypsin deficiency. This free testing is part of a research study called the Alpha-1 Coded Testing (ACT) Study. Participants receive a free, at-home test kit after completing an informed consent form and research questionnaire. Results are returned directly to the participant several weeks later. For more information, or to join the ACT Study for a free test kit, visit www.alphaoneregistry.org.
Sandhaus RA, Turino, G, Brantly ML, et al. Journal of the COPD Foundation. The Diagnosis and Management of Alpha-1 Antitrypsin Deficiency in the Adult. Vol. 3, No. 3. 2016.
Alpha-1 Foundation. Testing for Alpha-1: Who should be tested? Retrieved August 28, 2017 from https://www.alpha1.org/Newly-Diagnosed/Learning-about-Alpha-1/Testing-for-Alpha-1.