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Alpha-1-Antitrypsin Phenotype, Serum

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Updated Test Information:

Test Description
Alpha-1-Antitrypsin Phenotype, Serum
Synonym(s)

A1A Phenotyping; a-1-Antitrypsin Phenotype; AAT Phenotyping; Alpha 1 Antitrypsin; Anti-Alpha-1-Trypsin; Antitrypsin; Antitrypsin PhenotypePi Typing (Alpha-1-Antitrypsin Phenotyping); Protease Inhibitor Allo Typing; Alpha-1-Antitrypsin Reflex
Test ID
A1APP
General Information

Useful for identification of homozygous and heterozygous phenotypes of the alpha-1-antitrypsin deficiency
Specimen Type

Serum: (1.25 mL)
Specimen Requirements

  • Preferred: Red Top

  • Acceptable: Serum Gel
Minimum Sample Volume

0.5 mL
Stability

  • Refrigerated (preferred): 28 days

  • Ambient: 28 days

  • Frozen: 28 days
Unacceptable Specimen Conditions

Gross Lipemia
Limitations

  • 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.
Methodology

  • A1AP2: Isoelectric Focusing

  • AATP: Nephelometry
Estimated TAT

2-6 days
Testing Schedule

Monday-Friday
Test Includes

  • Alpha-1-Antitrypsin, S

  • Alpha-1-Antitrypsin Phenotype
CPT Code(s)

82103, 82104
Reference Range

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.
Performing Lab

Mayo
LOINC Code(s)

6771-0, 32769-2
Additional Information