Alpha-1 Antitrypsin (AAT) Mutation Analysis

Test Code
15340


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


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




The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.