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

Last Modified: 7/18/2016 7:44:37 AM


Specimen Requirements: 5.0 mL Whole Blood in a Lavender Top Tube - EDTA
Minimum Volume: 2.0 mL Whole Blood
Transport & Storage: Temperature/Stability: 8 days Ambient
8 days Refirgerated
Rejection Criteria: Frozen Specimen
Reference Range: Refer to Interpretive Results
Methodology: Fluorescent Restriction Fragment Length Polymorphism
Clinical Significance:

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

Custom Panel: No

PRODUCTION SCHEDULE

Turn Around Time: 5 to 6 days
Days Performed: Monday, Wednesday, Friday
Sites Performed: Quest - Valencia to San Juan Capistrano
PHL Test Code: MSOT
EPIC Test Code:
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
CPT Coding: 81332

Go back to the top of the page.