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Butyryl Cholinesterase Genotyping
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General
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Clinical Use:
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Reduced activity of Butyryl Cholinesterase is associated with poor metabolism of numerous natural and synthetic neuroactive drugs including acetylcholine, cocaine, heroin, mivacurium, and succinylcholine. Mutations in the Butyryl Cholinesterase gene are often the cause of reduced Butyryl Cholinesterase activity.
The main clinical indication for genotyping for these variants is in the investigation of scoline apnoea. Patients with reduced Butyryl Cholinesterase activity are susceptible to prolonged effects of succinylcholine, a smooth muscle relaxant which is used in the induction phase of anaesthesia. This can result in continuation of respiratory paralysis (apnoea) post-operatively, which requires treatment by ventilation in an intensive care unit.
Butyryl Cholinesterase Genotyping screens the Butyryl Cholinesterase gene for the most commonly documented mutations that have been shown to result in reduced enzyme activity. |
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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:
| BCHE Genotype Analysis, Cholinesterase Genotyping, |
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Code:
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GSABG |
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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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4mL |
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Collection Instructions:
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Butyryl Cholinesterase levels are tested concurrently with the genetic testing. Please refer to the directory for information regarding collection in conjunction with this information.
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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4mL |
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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 : 03-08-2023 13:26 |