Interpretive Handbook

Test 83050 :
Alpha-1-Antitrypsin Deficiency Profile






Historically, IEF has been the primary method for characterizing variants, though in some cases the interpretation is difficult and prone to error. Serum quantitation is helpful in establishing a diagnosis but can be influenced by other factors. DNA-based assays are routinely used to test for deficiency alleles, but can miss disease alleles other than the S and Z alleles. This test combines all of these methods to provide a comprehensive result. See Alpha-1-Antitrypsin-A Comprehensive Testing Algorithm in Special Instructions.


This is Mayo's preferred approach for diagnosing alpha-1-antitrypsin deficiency (alpha-1-antitrypsin quantitation and genotype).


Determining the specific allelic variant (genotyping) for prognosis and genetic counseling

Interpretation Provides information to assist in interpretation of the test results

For each of the possible alpha-1-antitrypsin (A1A) genotypes there is an expected range for the total serum level of A1A. However, a number of factors can influence either the A1A serum level or the A1A genotype results, including acute illness (A1A is an acute phase reactant), protein replacement therapy, the presence of other rare variants and/or the presence of DNA polymorphisms. When the serum level differs from what is expected for that genotype (ie, discordant), additional studies are performed to ensure the most appropriate interpretation of test results. Additional follow-up may include A1A phenotyping by isoelectric focusing, obtaining additional clinical information, and DNA sequencing. See Alpha-1-Antitrypsin Reflex Table in Special Instructions.


This assay will not detect all of the mutations that cause alpha-1-antitrypsin deficiency. Therefore, the absence of a detectable mutation(s) does not rule out the possibility that an individual is a carrier of or affected with this disease.











An interpretive report will be provided.



100-190 mg/dL




3. Snyder MR, Katzmann JA, Butz ML, et al: Diagnosis of alpha-1-antitrypsin deficiency: an algorithm of quantification, genotyping, and phenotyping. Clin Chem 2006;52:2236-2242