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A B C D E F G H I J K L M N O P Q

Test Identifier Information

 
Registration CodeALEG
Method

Coding regions of exons flanking the region of interest in exon 4 of the APOE gene are amplified by PCR and analysed by automated fluorescent bi-directional DNA Sequencing.

 

The analysis determines the patient’s APOE genotype with respect to the three main APOE alleles: E2, E3 and E4 caused by substitution at the 130 and 176 amino acid positions only. Other mutations in the apoE gene may not be detected. 

 

Diagnostic Use / Indications

Elevated total cholesterol and triglyceride levels not responsive to dietry and lifestyle changes or a known family history of Type III hyperlipoproteinemia.

Apolipoprotein E (ApoE) is a polymorphic protein associated with plasma IDL and chylomicrons. Human apoE is genetically controlled by three alleles (E2, E3 and E4) at the single gene locus on chromosome 19. Six genotypes, resulting from the combination of any two alleles are possible. Individuals homozygous for the E2 allele are at increased risk of developing Type III hyperlipidaemia.

External Price$163.44(Exclusive of GST)
  

Specimen Collection

 
Patient Specimen4.0mL EDTA,
Paediatric Specimen0.5 mL - 1 mL EDTA blood
Aliquot Transport to CHLAmbient
  

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

This genetic test requires nucleated cells. Please do not centrifuge or freeze the EDTA blood tube.

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

Delphic Number Test Number4192

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