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Alpha-1-Antitrypsin Genetic Testing
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General
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Clinical Use:
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Alpha-1 antitrypsin is a serine protease inhibitor produced by the liver and secreted into plasma. It is important in protecting alveolar tissue in the lungs from destruction by neutrophil elastase.
Mutations in the alpha-1-antitrypsin gene can result in alpha-1-antitrypsin deficiency, which can cause the clinical presentation of lung or liver disease. Two mutation sites are of interest: the Z mutation and the S mutation.
Test is most informative when performed in conjunction with alpha-1-antitrypsin levels. |
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Availability:
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Samples are tested routinely during the testing laboratory's hours of operation. |
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Aliases/Synonyms:
| Alpha 1 Antitrypsin Genetic Testing, SERPINA1, |
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Code:
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GAL1A |
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Handling Instructions (to laboratory):
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Send sample ambient. |
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Hyperlink:
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Reference Interval:
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Not Applicable
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Collection Requirements
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Container:
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EDTA (LAVENDER), |
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Sample Type:
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See container |
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Minimum Collection Volume:
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1mL |
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Collection Instructions:
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Non-medicare rebateable item. Please contact testing laboratory for current pricing. |
Processing Requirements
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Alternate Containers:
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Processing Instructions:
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Store sample at room temperature.
Do not centrifuge sample. |
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Minimum Assay Volume:
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200uL |
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Stability:
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72 hours ambient; Indefinitely once extracted and frozen |
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Transport Instructions (to testing laboratory):
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Send sample ambient. |
Testing Locations
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Performed at:
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Section
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Department
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Site
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Contact Phone
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| Molecular Genetics |
Diagnostic Genomics |
QEII Medical Centre |
6383 4243 |
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Last Updated : 08-01-2026 12:22 |