Test directory: Alpha-1 Antitrypsin Genotype

Ordering Code 7869
Test Name Alpha-1 Antitrypsin Genotype
Alias Alpha-1 Antitrypsin (AAT) Mutation Analysis
Alpha-1 Protease Inhibitor (PI) Mutation
AAT Genotype
AAT Mutation
Preferred Specimen Whole Blood
Preferred Container EDTA, K2 (Lavender) 6 mL
Other Specimen/Container Whole Blood in ACD-B (Yellow), Whole Blood in Sodium
Heparin (Green)
Optimum Volume 5 mL
Handling Instructions Do not aliquot.
Transport Requirements Oahu: Ambient
Airline: Ambient
Specimen Stability Ambient: 8 Days
Refrigerated: 8 Days
Frozen: Not Stable
Rejection Criteria Frozen
Avail. Stat NO
Analytic Time 10 Days
Methodology Polymerase Chain Reaction (PCR), Restriction Digestion,
GeneScan
Reference Lab  Quest Diagnostic Lab-NI

Reference range(s)

The reference ranges listed below are valid on this date of June 29, 2025.
Component Age Male Norm Male Critical Low Male Critical High Female Norm Female Critical High Female Critical Low Units Add'l info
A-1 Antitrypsin Mutation ALL See report.
Referring Physician ALL See report.
Clinical Indication ALL See report.