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Alpha-1-Antitrypsin (AAT) Mutation Analysis [15340X]Test Code
5 mL whole blood (minimum 3 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.
EDTA (lavender top)
Room temperature: 8 days
Refrigerated: 8 days
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
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.
Individuals who carry two copies (homozygous) for the Z allele are at a higher risk to develop liver disease and emphysema.
Quest Diagnostics Nichols Institute