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

Test Identifier Information

 
Method

For suspected dysfibrinogenaemia or hypofibrinogenaemia, initial analysis is by time-of-flight mass spectrometry (MS) which usually identifies whether the fibrinogen A-alpha (FGA), B-beta (FGB), or gamma (FGG) chains have a mutation. DNA sequencing of FGA/FGB/FGG genes is then performed to identify and/or confirm a mutation.

The cost for testing depends on the amount of analysis required; mass spec analysis plus DNA sequencing of a single exon is $450; if full sequencing of FGA, FGB, and FGG genes is required the cost is approximately $1000.
Diagnostic Use / Indications

Classical dysfibrinogenemias results from an impairment of fibrin polymerisation. They are associated with prolonged thrombin clotting times and low functional, but normal antigenic fibrinogen concentrations, and are usually caused by point mutations in the regions of the fibrinogen chain genes coding for functional domains involved in polymerisation.

Hypofibrinogenemias are associated with low functional and antigenic concentrations (less than 1.5 mg/mL) and can result from a variety of different mutations. These can affect either transcription, mRNA processing, translation, polypeptide chain processing and assembly, export from the hepatocyte, or the stability of the mature protein. Although heterozygosity for any such mutations might reduce fibrinogen levels below the normal range, they would not usually be expected to produce a significant clinical condition unless inherited in a homozygous, or compound heterozygous state. In this case afibrinogenemia may result, and lead to a serious bleeding condition.

Constituent TestsGenomic DNA Extraction ;
External Price$3033.26(Exclusive of GST)
  

Specimen Collection

 
Pre-Testing Requirements

 Coagulation investigation (TCT, Clauss fibrinogen).

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
  1. This test requires nucleated cells. Please do not centrifuge or freeze blood samples.
  2. Genomic DNA must be extracted from the specimen prior to testing. This incurs an additional charge (see GDNA). Laboratories may prefer to submit DNA for testing. Please provide a minimum of 5 micrograms of DNA at 20 nanograms/microlitre.
  3. If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).

Delphic Number Test Number4575

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