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Alpha-1-Antitrypsin (AAT) Mutation Analysis
Test Code15340
CPT Codes
81332
Physician Attestation of Informed Consent
This genetic test requires provider confirmation that patient informed consent has been received if the ordering provider is located in AK, AZ, DE, FL, GA, IA, MA, MN, MT, NV, NH, NJ, NY, OR, SC, SD, or VT or testing is performed in MA.
Preferred Specimen
5 mL whole blood collected in EDTA (lavender-top) tube
Minimum Volume
2 mL
Other Acceptable Specimens
Whole blood collected in sodium heparin (green-top) tube, or ACD solution B (yellow-top) tube
Instructions
Whole Blood: Use normal phlebotomy procedure. Do not transfer to other containers. Specimen stability is crucial. Store and ship ambient immediately. Do not freeze.
For any other sample type please call 1-866-GENE-INFO (1-866-436-3463)
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
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: 6-9 days
Limitations
Rare alleles (other than S and Z types) are not tested for by this assay.
Reference Range
Interpretive report
Clinical Significance
This test identifies the S and Z alleles in the SERPINA1 gene associated with alpha-1-antitrypsin deficiency.
