Alpha-1-Antitrypsin (AAT) Mutation Analysis, Genotype

Overview

  • EPIC Code:
  • MISC
  • Soft Test Code:
  • MSOT
  • Send Out Test Code:
  • 15340
Alternate Names
  • Alpha-1 Antitrypsin Genotype,AAT Genotype
  • Alpha-1 Protease Inhibitor (PI) Mutation,AAT Defic
  • Mutation, Alpha-1 Antitrypsin,AAT Mutation
Clinical Significance

Individuals who carry two copies (homozygous) for the Z allele are at a higher risk to develop liver disease and
emphysema.


Specimen Collection & Preparation

Specimen Requirements

5.0 mL Whole Blood in a Lavender Top Tube - EDTA

Alternate Specimen

5.0 mL Whole Blood in a Green Top Tube - NA Heparin
or
5.0 mL Whole Blood in a Yellow Top Tube - ACD

TransportAndStorage

8 days Ambient


Specimen stability is crucial. Store and ship ambient immediately.  Do not freeze.

Collection Instructions

Whole blood- use normal phlebotomy procedure. 
Do not transfer to other containers.  

Clinical Interpretation

Reference Range:

Refer to Interpretive Results


Methodology:
  • Polymerase Chain Reaction (PCR)
  • Restriction Digestion, GeneScan

Clinical Significance

Individuals who carry two copies (homozygous) for the Z allele are at a higher risk to develop liver disease and
emphysema.


Production Schedule

Sites Performed
  • Quest - Chantilly
Days Performed
Monday
Wednesday
Friday
Departments
  • Sendouts - Miscellaneous
Turn Around Time

5 to 8 days


Coding & Compliance

CDM

00913333


CPT Coding

81332