There are two types of tests for Alpha-1. These are the blood level testing and phenotyping (looking at the AATalpha-1 antitrypsin More protein in the blood) or genotyping (looking at the AATalpha-1 antitrypsin More gene).
A low level of AATalpha-1 antitrypsin More in the blood indicates that the person tested may have alpha-1 antitrypsin deficiency. The lower the level of AATalpha-1 antitrypsin More, the greater the risk of developing emphysema and other disorders related to AATalpha-1 antitrypsin More 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 More. When DNA testing indicates the presence of one or two abnormal copies of the SERPINA1 gene, less AATalpha-1 antitrypsin More and/or abnormal AATalpha-1 antitrypsin More 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.
Canadians can sign up here: https://alpha1canada.ca/genetic-facts/ (Patients with a family history of alpha-1 antitrypsin deficiency or low alpha-1 serum levels can contact the Alpha-1 Canadian Registry at https://alpha1canadianregistry.com/contact/ or at 1-800-352-8186, to request a testing kit. An Alpha-1 Canadian Registry Coordinator can discuss optional confidential testing and arrange to have a test kit sent directly to a patient’s home.)