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There are two types of tests for Alpha-1. These are the blood level testing and phenotyping (looking at the AAT protein in the blood) or genotyping (looking at the AAT gene).

A low level of AAT in the blood indicates that the person tested may have alpha-1 antitrypsin deficiency. The lower the level of AAT, the greater the risk of developing emphysema and other disorders related to AAT deficiency.

Phenotyping or genotyping tells us which variants we have inherited. Most people have two copies of the normal (MM) gene and produce sufficient AAT. When DNA testing indicates the presence of one or two abnormal copies of the SERPINA1 gene, less AAT and/or abnormal AAT 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™ 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: (Patients with a family history of alpha-1 antitrypsin deficiency or low alpha-1 serum levels can contact the Alpha-1 Canadian Registry at 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.)