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Alpha-1-Antitrypsin (AAT) Mutation Analysis
Test Code15340
Alias/See Also
Alpha-1 Antitrypsin Deficiency,
Alpha-1 Protease Inhibitor (PI) Mutation,
Alpha-1 Antitrypsin Genotype,
AAT Mutation,Alpha-1 Antitrypsin Genotype,Mutation,
Alpha-1 Antitrypsin DNA
Alpha-1 Protease Inhibitor (PI) Mutation,
Alpha-1 Antitrypsin Genotype,
AAT Mutation,Alpha-1 Antitrypsin Genotype,Mutation,
Alpha-1 Antitrypsin DNA
CPT Codes
81332
Physician Attestation of Informed Consent
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.
Preferred Specimen
5 mL whole blood collected in EDTA (lavender-top) tube
Minimum Volume
2 mL
Other Acceptable Specimens
Whole blood collected in sodium heparin (green-top) tube, or ACD solution B (yellow-top) tube
Instructions
Whole Blood: Use normal phlebotomy procedure. Do not transfer to other containers. Specimen stability is crucial. Store and ship ambient immediately. Do not freeze.
For any other sample type please call 1-866-GENE-INFO (1-866-436-3463)
For any other sample type please call 1-866-GENE-INFO (1-866-436-3463)
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable
Refrigerated: 8 days
Frozen: Unacceptable
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Whole blood received frozen
Methodology
Polymerase Chain Reaction (PCR) • Restriction Digestion • GeneScan
FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Monday, Wednesday, Friday Night
Report available: 6 Days
Report available: 6 Days
Limitations
Rare alleles (other than S and Z types) are not tested for by this assay.
Reference Range
Interpretive report
Performing Laboratory
Quest Diagnostics Nichols Inst San Juan Capistrano
33608 Ortega Highway
San Juan Capistrano, CA 92690-6130
Last Updated: July 7, 2023