Craniofacial disorders occur when there is an abnormality in the development or growth of the skull and/or facial bones. Individuals with these conditions may present with only craniofacial abnormalities or may have extracranial abnormalities, such as anomalies of the limbs or digits. Examples of craniofacial disorders include craniosynostosis (premature fusion of one or more cranial sutures), frontonasal dysplasia, and cranioectodermal dysplasia.
Our Craniofacial Panel includes sequence analysis of the following 21 genes: FGFR1, FGFR2, FGFR3, TWIST1, MSX2, TCF12, ERF, IFT122, WDR35, IFT43, WDR19, ALX1, ALX3, ALX4, EFNB1, RECQL4, POR, GLI3, RAB23, FAM20C, RUNX2.
Any gene in the Craniofacial Panel can also be ordered individually. Please contact us directly for cost and CPT code information.