Inpatient and Outpatient Orderable

Alpha-1-antitrypsin, Phenotype

Synonyms

  • AAT PHENO
  • ALPHA-1-ANTITRYPSIN, PHENOTYPE
  • LAB3021

Cerner Name

Alpha 1 Anti Trypsin Pheno Grp

Clinical Info

Definitive analysis of hereditary α1-antitrypsin deficiency, which is associated with chronic obstructive pulmonary disease (COPD) (panacinar emphysema), hepatic cirrhosis, and hepatoma. Cholestasis with neonatal hepatitis is found in a minority of neonates with α1AT deficiency.
 

Specimen Sources

Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous

Specimen Types

Blood

Container

Gold Top Tube

Collection Instructions

Container/Tube: Gold Top Tube or Red Top Tube
Specimen: 2 mL serum ( 0.7 mL min)
Transport Temperature: Refrigerated
Stability: 21 Days Room Temperature, Refrigerated or Frozen
Patient Preparation Overnight fasting is preferred.

Specimen Volume

2 mL serum ( 0.7 mL min)

Transport Instructions

Refrigerated

Specimen Stability

21 Days Room Temperature, Refrigerated or Frozen
Patient Preparation Overnight fasting is preferred.

Methodology

Phenotype: isoelectric focusing (IEF); total: immunologic
 
Test Includes   ?1-antitrypsin, total, serum; phenotype

Days Performed

Performing Laboratory

LabCorp

CPT

82103
82104
 

PDM

5902002

Only Orderable at Locations:

Orderable Everywhere

Results
Component Name Base Name Common Name External Name
ALPHA 1 ANTI TRYPSIN SERUM A1ANTITRYPS A1 ANTITRYPSIN Alpha-1-Antitrypsin
ALPHA 1 ANTITRYPSIN PHENOTYPE A1ANTITRYPPH ALPHA 1 ANTITRYPSIN PHENOTYPE Phenotype (PI)

Result Interpretation

Interpretation accompanies report; phenotypes are designated. PiMM phenotype is normal; PiMZ is heterozygous, intermediate deficient; and PiZZ is homozygous, severely deficient. More than 75 alleles are described; biosynthesis of α1AT is controlled at the Pi locus by a pair of genes. There is codominant expression. The phenotype is “Pi” for protease inhibitor. Z and S are mutant proteins. A null-null state occurs as well. In the dysfunctional type, α1AT is found in normal amounts but does not function normally.
 
TAT: 5-7 Days

Forms
LAB3021 build edit