Cost 
$2,800.00
TAT 
8 weeks
CPT Code 
81407
Test Code 
1129
Test Methods 
Sequencing
Specimen Types Accepted 
Blood
Saliva
Cultured Cells
Extracted DNA
Notes 
Any gene in the Holoprosencephaly Sequencing Panel can also be ordered individually. Please contact us directly for cost and CPT code information.

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.