Tests for Alpha-1
Testing for Alpha-1* usually is recommended either because you have symptoms of Alpha-1 or because a family member has been diagnosed with Alpha-1.
*Also known as alpha-1 antitrypsin deficiency, AATD, A1-PI deficiency, alpha-1 proteinase deficiency, A1AD, or hereditary or genetic emphysema.
There is a simple finger-stick blood test that can be done to determine if you have AAT deficiency.
Testing Procedures Utilizing One Blood Sample
Immunoassay
The first test – immunoassay – is a simple blood test which determines the amount of AAT protein circulating in the blood.
Phenotyping
If low levels of AAT are detected on the immunoassay, phenotyping is done. This identifies the type of AAT protein present in the blood.
Genotyping
This test conclusively identifies specific genetic mutations and is the only test that can detect the null and other rare variations.
Why Testing is Important for You and Your Family
The results of these tests are important to help you and your doctor determine the best treatment plan for you. The test results also help identify preventive measures to protect your lungs. Finally, test results can help with the decision about whether family members should be tested.
For questions regarding the testing process, please contact your physician.
References
- Adapted from the American Thoracic Society/European Respiratory Society Statement. Standards for the diagnosis and management of individuals with AAT deficiency. Am J Respir Crit Care Med. 2003;168:818-900.
