Alpha-1 antitrypsin deficiency
- AAT deficiency
- A1AT deficiency
- Alpha 1 antitrypsin deficiency
Your QuestionI think I may have alpha-1-antitrypsin deficiency. How is it diagnosed? Who should I talk to?
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
Confirming the diagnosis involves a blood test showing a low serum concentration of the alpha-1 antitrypsin (AAT) protein, and either:
- detecting a functionally deficient AAT protein variant by isoelectric focusing (a method for detecting mutations); or
- detecting SERPINA1 gene mutations on both copies of the gene with molecular genetic testing. (This confirms the diagnosis when the above-mentioned tests are not performed or their results are not in agreement.)
You may wish to discuss your concerns with a genetics professional. Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference at http://ghr.nlm.nih.gov/handbook/consult. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.
The following online resources can help you find a genetics professional in your community:
- GeneTests has a searchable directory of US and international genetics and prenatal diagnosis clinics.
- The National Society for Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- Learning About Alpha-1 Antitrypsin Deficiency (AATD). NHGRI. January 4, 2012; https://www.genome.gov/19518992.
- Alpha-1 antitrypsin deficiency. Genetics Home Reference. January 2013; http://www.ghr.nlm.nih.gov/condition/alpha-1-antitrypsin-deficiency.
- James K Stoller, Felicitas L Lacbawan, and Loutfi S Aboussouan. Alpha-1 Antitrypsin Deficiency. GeneReviews. May 1, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1519/.
- What Is Alpha-1 Antitrypsin Deficiency?. NHLBI. October, 2011; http://www.nhlbi.nih.gov/health/health-topics/topics/aat.