Holoprosencephaly (HPE) is a very common malformation of forebrain development and is defined as the incomplete separation of the two cerebral hemispheres. HPE can be further subdivided based on the severity of the defect: alobar HPE, semilobar HPE and lobar HPE. Facial abnormalities occur in approximately 80% of HPE patients and can include cyclopia, proboscis and cleft lip/palate in the severe form, to a single central maxillary incisor, ocular hypotelorism and nasal abnormalities in the more mild forms. HPE occurs in 1 in 120 fetuses and 1 in 16,000 live births. Cytogenetically visible anomalies are estimated to be present in approximatey 25% of patients with HPE, while mutations are estimated to be identifiable in approximately 17% of cytogenetically normal HPE patients.
Our Holoprosencephaly Sequencing Panel includes sequence analysis of the following 9 genes: CDON, FGF8, FGFR1, GLI2, PTCH1, SHH, SIX3, TGIF1, ZIC2.
Any gene in the Holoprosencephaly Panel can also be ordered individually. Please contact us directly for cost and CPT code information.