Alpha 1 Anti Trypsin Pheno Grp AATPHENO

Synonyms

Allscripts (AEHR) Order Name

Alpha-1-Antitrypsin Phenotype, Serum

Sunrise Clinical Manager (SCM) Order Name

Alpha-1-Antitrypsin Phenotype, Serum

EPIC Order Name

Alpha-1-antitrypsin, Phenotype

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 Type

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.

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

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