Alpha-1-Antitrypsin (AAT) Mutation Analysis [15340X]

Test Code

CPT Codes

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 (minimum 3 mL)

Minimum Volume
2 mL

Other Acceptable Specimens
Whole blood collected in: EDTA (royal blue-top), sodium heparin (green-top), lithium heparin (green-top), ACD solution B (yellow-top) or ACD solution A (yellow-top) tube

Whole Blood: Use normal phlebotomy procedure. Do not transfer to other containers. Specimen stability is crucial. Store and ship ambient immediately. Do not freeze WB specimens.

Extracted DNA:
Please call 1-866-GENE-INFO (1-866-436-3463) for additional information.

Transport Container
EDTA (lavender top)

Transport Temperature

Room temperature

Specimen Stability
Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable

Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Received frozen

Fluorescent Restriction Fragment Length Polymorphism

This test was developed and its performance characteristics have been determined by Quest Diagnostics. Performance characteristics refer to the analytical performance of the test.

Rare alleles (other than S and Z types) are not tested for by this assay.

Reference Range
Accompanies report

Clinical Significance
Individuals who carry two copies (homozygous) for the Z
allele are at a higher risk to develop liver disease and

Performing Laboratory
Quest Diagnostics Nichols Inst San Juan Capistrano
33608 Ortega Highway
San Juan Capistrano, CA 92690-6130

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.