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Test Identifier Information

 
Registration CodeMPST
Method

Exons 2, 3 and 4 of the BCHE gene are gene are amplified using the Polymerase Chain Reaction (PCR) and analysed by automated bidirectional fluorescent DNA Sequencing.

Diagnostic Use / Indications

Several genetic variants of human butyrylcholinesterase (EC 3.1.1.8; serum cholinesterase; pseudocholinesterase; BCHE) are reportedly associated with prolonged apnoea in patients given the muscle relaxant drug succinylcholine (Scoline). An estimation of the serum BCHE activity, dibucaine number (DN) and fluoride number (FN) have, in the past, been sufficient to identify most of the known BCHE phenotypes associated with succinylcholine sensitivity. However, several additional BCHE variants have been discovered in the last 10 – 20 years, which complicates the phenotyping of individuals. The molecular basis for a number of these variants has been reported, and it has become clear that multiple mutations within a single BCHE gene are not rare. BCHE phenotypes, which were previously thought to represent single mutational events, may actually result from a combination of mutations. It has, therefore, become necessary to distinguish between butyrylcholinesterase at the DNA level (BCHE) and at the protein level (BChE). The genotype of an individual represents the actual point mutations (or lack of them) present in the DNA of the BCHE gene, whilst the phenotype reflects properties of the BChE protein itself. The phenotype does not always accurately reflect the genotype. For example, inhibition tests are unable to discriminate between quantitative variants and the usual (wild-type or normal) enzyme except when in the presence of the heterozygous atypical (Dibucaine-resistant) variant. Methods employing molecular techniques more accurately reflect the genetic basis for BCHE variants.

External Price$0.00(Exclusive of GST)
  

Specimen Collection

 
Patient Specimen4.0mL EDTA,
Paediatric Specimen0.5 mL - 1 mL EDTA blood
Sample Delivery to LabAmbient
  

CHLabs Laboratory

 
DepartmentBiochemistry - Molecular Pathology
Contact Details Email Email
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Contact Phone Number03 3640 548
Test Availability9am to 5pm, Monday to Friday
Turnaround TimeWithin 4 weeks
Uncertainty of Measurement

 Automated bidirectional DNA sequencing has an analytical sensitivity and specificity of >99%. Note that the lower limit of variant detection of sequencing analysis is ~10%, this is important to consider in the case of mosaicism, mitochondrial, and somatic variation that is not expected to be present at 50% or 100%.  This analysis will not detect variants located within intronic regions, except at the intron-exon boundaries.

Additional Information

If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).


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