Craniosynostosis: FGFR2 FGFR3 FGFR1 TWIST1 MSX2 Targeted Sequencing

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


Genetics - Molecular Pathology

Delphic Registration Code


Constituent Tests


Apert Syndrome
Crouzon Syndrome
Muenke Syndrome
Pfeiffer Syndrome
Saethre-Chotzen Syndrome

Turnaround Time

4 weeks

Test Code