What is Alpha-1 phenotyping?
Phenotyping refers to the traditional way that Alpha-1 has been tested for over the years, even before genetic testing was available. Phenotyping looks at the total amount of AAT protein in the blood to see if the levels are missing or lower than normal. This test uses a process called isoelectric focusing and is considered the gold standard for diagnosing the condition. Phenotyping helps doctors diagnose Alpha-1, but it does not identify what underlying genetic changes are responsible for the low levels of AAT. Therefore, it cannot provide information for family planning or for at-risk relatives who want to know if they have also inherited these Alpha-1 genetic changes.
