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Testing

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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. 

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