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

Last Modified: 7/7/2022 6:20:16 AM


Medical Necessity Documentation:  
Client Notes:  
Patient Preparation:  
Specimen Requirements: 5.0 mL Whole Blood in a Lavender Top Tube - EDTA
Collection Instructions: Whole blood- use normal phlebotomy procedure. 
Do not transfer to other containers.  
Minimum Volume: 2.0 mL Whole Blood
Transport & Storage: Temperature/Stability: 8 days Ambient


Specimen stability is crucial. Store and ship ambient immediately.  Do not freeze.
Rejection Criteria: Frozen Specimen
Reference Range: Refer to Interpretive Results
Critical Ranges:  
Test Comments:  
Methodology: Polymerase Chain Reaction, 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.
Documentation:  
Custom Panel: No

PRODUCTION SCHEDULE

Turn Around Time: 5 to 8 days
Days Performed: Monday, Wednesday, Friday
Sites Performed: Quest - Chantilly
PHL Test Code: MSOT
EPIC Test Code: MISC
Send Out Test Code: 15340
Alternate Test Names: Alpha-1 Antitrypsin Genotype,AAT Genotype; Alpha-1 Protease Inhibitor (PI) Mutation,AAT Defic; Mutation, Alpha-1 Antitrypsin,AAT Mutation
Included Tests:  
CPT Coding: 81332

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