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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

Target genes are analysed by bidirectional automated DNA sequencing. The decision as to which gene or genes 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 known whilst Boston-type craniosynostosis, caused by a P148H substitution occurring at position 7 of the highly conserved homeodomain of MSX2, is uncommon.

Advances in gene discovery have shown that craniosynostosis syndromes delineated on clinical basis, with the possible exception of Apert syndrome, are genetically heterogeneous, and mutations have been found in fibroblast growth factor receptors (FGFR) 1, 2 and 3, as well as the TWIST gene. The molecular analysis of the craniosynostosis disorders involves a cascade strategy where sequential analysis of recurrent mutations is followed by sequencing

Constituent TestsGenomic DNA Extraction ;
External Price$763.24(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 Time4 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).

Delphic Number Test Number4563

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