Skeletal Dyspasia: FGFR3 Targeted Sequencing

Test Identifier Information
Registration Code	MUTA 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 Tests	Genomic DNA Extraction ;
External Price	$466.64(Exclusive of GST)

Specimen Collection
Patient Specimen	4.0mL EDTA,
Paediatric Specimen	0.5 mL - 1 mL EDTA blood
Sample Delivery to Lab	Ambient

CHLabs Laboratory
Department	Biochemistry - Molecular Pathology
Contact Details	Email This e-mail address is being protected from spam bots, you need JavaScript enabled to view it
Contact Phone Number	03 3640 548
Test Availability	9am to 5pm, Monday to Friday
Turnaround Time	Within 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 test requires nucleated cells. Please do not centrifuge or freeze blood samples. If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).
Delphic Number Test Number	4579