There are two types of tests for Alpha-1. These are the blood level testing and phenotyping (looking at the alpha-1 antitrypsin protein in the blood) or genotyping (looking at the alpha-1 antitrypsin gene).
A low level of alpha-1 antitrypsin in the blood indicates that the person tested may have alpha-1 antitrypsin deficiency. The lower the level of alpha-1 antitrypsin, the greater the risk of developing emphysema and other disorders related to alpha-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 alpha-1 antitrypsin. When DNA testing indicates the presence of one or two abnormal copies of the SERPINA1 gene, less alpha-1 antitrypsin and/or abnormal alpha-1 antitrypsin will be produced.
- Alpha-1 Coded Testing – Free, confidential testing through the Alpha-1 Foundation, only available to those in the United States.
- The Grifols AlphaID™ testing kit – 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. Results can be sent to you directly or to your doctor so they can discuss with you. Canadians can sign up here: https://alpha1canada.ca/genetic-facts/