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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 CodeMUTA 04
Method

Targeted regions of the FGFR3 gene are analysed by bidirectional automated DNA sequencing. The decision as to which regions are to be analysed is dependent on either the clinical details provided or the specific test request.

Diagnostic Use / Indications

Craniosynostosis is the premature fusion of calvarial bones leading to an abnormal head shape. The birth prevalence of craniosynostosis is approximately 1 in 3000 live births. Common craniosynostosis syndromes include Apert, Crouzon, Pfeiffer and Saethre-Chotzen syndromes. Muenke craniosynostosis, caused by FGFR3 P250R, represents the most common human transversion.

Constituent TestsGenomic DNA Extraction ;
External Price$466.64(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
  1.  This test requires nucleated cells. Please do not centrifuge or freeze blood samples.
  2. If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).
Delphic Number Test Number4579

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