Alpha-1 Antitrypsin (AAT) Mutation Analysis

Test Code

15340X

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 Temperature

Room temperature

Specimen Stability

Room temperature: 8 days
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

Set up: Mon, Wed, Fri; Report available: 5-8 days

Limitations

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

Clinical Significance

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

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.