Alpha 1 Antitrypsin Phenotype (Sendout)

Interpretation:

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.

There are greater than 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 greater than 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:

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.

Outside Laboratories: Centrifuge sample and transfer serum to a separate aliquot. Refrigerate serum.

Stability: Refrigerated (preferred): 28 days; Frozen: 28 days; Ambient: 28 days.

Reject Due To: Gross lipemia. Gross hemolysis and gross icterus are acceptable.

Centrifuge sample and aliquot serum to a separate plastic vial. Refrigerate serum.

Sendouts:

• Order Mayo Test: A1APP.
• Interfaced: Yes.

Stability: Refrigerated (preferred): 28 days; Frozen: 28 days; Ambient: 28 days.

Reject Due To: Gross lipemia. Gross hemolysis and gross icterus are acceptable.