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Alpha-1 Antitrypsin (AAT) Mutation Analysis
Test Code15340
Alias/See Also
LAB00163
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 an EDTA (lavender-top) tube
Minimum Volume
2 mL
Other Acceptable Specimens
Whole blood collected in a sodium heparin (green-top) or ACD (yellow-top) tube
Instructions
Whole blood: Use normal phlebotomy procedure. Do not transfer to other containers. Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze.
For any other sample type please call 1-866-GENE-INFO (1-866-436-3463).
Transport Container
EDTA (lavender-top) tube
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?)
Moderate to gross hemolysis • Whole blood received frozen • Serum
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
Mon, wed, fri
Report Available
6-10 days
Limitations
Rare alleles (other than S and Z types) are not tested for by this assay.
Performing Laboratory
Quest Diagnostics Nichols Institute-San Juan Capistrano, CA |
33608 Ortega Highway |
San Juan Capistrano, CA 92675-2042 |