α1-Antitrypsin and α1-Antitrypsin Phenotyping
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α1-antitrypsin: A1AT, α1-AT, AAT; α1-antitrypsin phenotyping: A1AT phenotype, α1-AT phenotype, AAT phenotype, Pi phenotype.
To assist in the identification of chronic obstructive pulmonary disease (COPD) and liver disease associated with α1-antitrypsin (α1-AT) deficiency.
Serum for α1-AT and α1-AT phenotyping collected in a gold-, red-, or red/gray-top tube. Whole blood from one full lavender-top (EDTA) is also acceptable.
(Method: Rate nephelometry for α1-AT, isoelectric focusing/high-resolution electrophoresis for α1-AT phenotyping)
|Age||Conventional Units||SI Units (Conventional Units × 0.01)|
|0–1 mo||124–348 mg/dL||1.24–3.48 g/L|
|2–6 mo||111–297 mg/dL||1.11–2.97 g/L|
|7 mo–2 yr||95–251 mg/dL||0.95–2.51 g/L|
|3–19 yr||110–279 mg/dL||1.1–2.79 g/L|
|Adult||126–226 mg/dL||1.26–2.26 g/L|
There are three major protease inhibitor phenotypes:
- SS—Intermediate; heterozygous
- ZZ—Markedly abnormal; homozygous
The total level of measurable α1-AT varies with genotype. The effects of α1-AT deficiency depend on the patient’s personal habits but are most severe in patients who smoke tobacco.