There are two types of tests for Alpha-1. These are the blood level testing and phenotyping (looking at the AATalpha-1 antitrypsin protein in the blood) or genotyping (looking at the AATalpha-1 antitrypsin gene).
A low level of AATalpha-1 antitrypsin in the blood indicates that the person tested may have alpha-1 antitrypsin deficiency. The lower the level of AATalpha-1 antitrypsin, the greater the risk of developing emphysema and other disorders related to AATalpha-1 antitrypsin deficiency.
Phenotyping or genotyping tells us which variants we have inherited. Most people have two copies of the normal (MM) gene and produce sufficient AATalpha-1 antitrypsin. When DNA testing indicates the presence of one or two abnormal copies of the SERPINA1 gene, less AATalpha-1 antitrypsin and/or abnormal AATalpha-1 antitrypsin will be produced.
Resources
- Alpha-1 Coded Testing – Free, confidential testing through the Alpha-1 Foundation, only available to those in the United States.
- The Grifols AlphaID™ at Home – Tests for the 14 most prevalent mutations associated with alpha-1, including the S, Z, F, and I alleles, as well as rare and null alleles (Mprocida, Mmalton, Siiyama, Q0granitefalls, Q0west, Q0bellingham, Plowell, Q0mattawa, Q0clayton and Mheerlen). The test is available and free for Americans only.