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

Last Modified: 3/15/2021 12:42:57 PM


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 - Chantilly
PHL Test Code: MSOT
EPIC Test Code: MISC
Send Out Test Code: 15441
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

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