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Test ID: A1APP    
Alpha-1-Antitrypsin Phenotype

Useful For Suggests clinical disorders or settings where the test may be helpful

Identification of homozygous and heterozygous phenotypes of the alpha-1-antitrypsin deficiency

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Alpha-1-antitrypsin (A1A) is the most abundant serum protease inhibitor and inhibits trypsin and elastin, as well as several other proteases. The release of proteolytic enzymes from plasma onto organ surfaces and into tissue spaces results in tissue damage unless inhibitors are present. Congenital deficiency of A1A is associated with the development of emphysema at an unusually early age and with an increased incidence of neonatal hepatitis, usually progressing to cirrhosis.

                   

Most normal individuals have the M phenotype (M, M1, or M2). Over 99% of M phenotypes are genetically MM. In the absence of family studies, the phenotype (M) and quantitative level can be used to infer the genotype (MM). The most common alleles associated with a quantitative deficiency are Z and S.

 

See Alpha-1-Antitrypsin-A Comprehensive Testing Algorithm in Special Instructions.

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

ALPHA-1-ANTITRYPSIN

100-190 mg/dL

 

ALPHA-1-ANTITRYPSIN PHENOTYPE

The interpretive report will identify the alleles present. For rare alleles, the report will indicate whether or not they have been associated with reduced quantitative levels of alpha-1-antitrypsin.

Interpretation Provides information to assist in interpretation of the test results

There are >40 alpha-1-antitrypsin (A1A) phenotypes (most of these are associated with normal quantitative levels of protein). The most common normal phenotype is M (M, M1, or M2), and >90% of Caucasians are genetically homozygous M (MM).

                                          

A1A deficiency is usually associated with the Z phenotype (homozygous ZZ), but SS and SZ are also associated with decreased A1A levels.

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

This assay identifies the phenotype of the circulating alpha-1-antitrypsin (A1A) protein. If the patient is already on replacement therapy, the phenotype will detect patient and replacement protein.

                         

If 2 bands are seen, such as an M band and a Z bands, it is reported as MZ (eg, heterozygous)

 

If 1 band is seen, such as the Z band and the quantitative level is consistent with a homozygote, the phenotype is assumed to be homozygous and is reported as ZZ.

Clinical Reference Provides recommendations for further in-depth reading of a clinical nature

1. Morse JO: Alpha-1-antitrypsin deficiency. N Engl J Med 1978;299:1045-1048;1099-1105

2. Donato LJ, Jenkins SM, Smith C, et al: Reference and interpretive ranges for alpha(1)-antitrypsin quantitation by phenotype in adult and pediatric populations. Am J Clin Pathol 2012 Sep;138(3):398-405 

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test