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Alpha-1-Antitrypsin (AAT) Quantitation and Mutation Analysis
Test Code17307X
CPT Codes
81332, 82103
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
1 mL serum and 5 mL whole blood collected in an EDTA (lavender top) tube
Minimum Volume
0.5 mL serum
2 mL whole blood
2 mL whole blood
Other Acceptable Specimens
Whole blood collected in a sodium heparin (green-top), or ACD (yellow-top) tube
Transport Temperature
Room temperature
Specimen Stability
Serum
Room temperature: 7 days
Refrigerated: 7 days
Frozen: 90 days
Whole blood
Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable
Room temperature: 7 days
Refrigerated: 7 days
Frozen: 90 days
Whole blood
Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable
Methodology
Fluorescent Restriction Fragment Length Polymorphism • Immunoturbidimetric Assay
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
Set up: Mon-Fri; Report Available: 3-6 days
Limitations
Rare alleles (other than S and Z types) are not tested for by this assay.
Clinical Significance
American Thoracic Society/European Respiratory Society Statement: Standards for the Diagnosis and Management of Individuals with Alpha-1-Antitrypsin Deficiency. Am J Respir Crit Care Med. 2003, vol. 168, 818-900.
