Alpha 1-antitrypsin deficiency
Other Names for this Disease
- A1AT deficiency
- AAT deficiency
- Alpha 1 antitrypsin 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
For a comprehensive review of Alpha1-antitrypsin deficiency including its diagnosis, you can visit GeneReviews at the following link. GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
You can also learn more about Alpha1-antitrypsin testing on the Lab Tests Online Web site. A public resource developed by the American Association for Clinical Chemistry.
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.
- Alpha 1-antitrypsin deficiency. Genetics Home Reference (GHR). August 2009; http://www.ghr.nlm.nih.gov/condition/alpha-1-antitrypsin-deficiency. Accessed 7/26/2011.
- Alpha 1-Antitrypsin Deficiency. MedlinePlus. January 2011; http://www.nlm.nih.gov/medlineplus/alpha1antitrypsindeficiency.html. Accessed 7/26/2011.
- Schlade-Bartusiak K, Cox DW. Alpha1-Antitrypsin Deficiency . GeneReviews. February 2008; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=alpha1-a#alpha1-a.Diagnosis. Accessed 7/26/2011.