Alpha 1-antitrypsin deficiency other diagnostic studies
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
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Overview
Other Diagnostic Studies
Phenotyping Patients with low or borderline serum levels are tested with phenotyping (serum levels < 100 mg/dL) by isoelectric focusing (IEF) is the most commonly used method to definitively detect the alpha1-antitrypsin phenotype that indicates a risk for AATD. Phenotyping is required to confirm AATD. Do not initiate alpha1-antitrypsin replacement therapy without testing. PiZZ phenotype is responsible for nearly all cases of AATD emphysema and liver disease. PiSZ and PiZ/Null are other phenotypes associated with alpha1-antitrypsin emphysema and liver disease. PiNull/Null is not associated with liver disease but is associated with alpha1-antitrypsin deficiency emphysema. Genotyping uses DNA extracted from circulating mononuclear blood cells that utilizes DNA amplification techniques with melt-curve analysis.