Pontocerebellar Hypoplasia Pontocerebellar hypoplasia (PCH) is a group of rare autosomal recessive neurodegenerative disorders with a prenatal onset, characterized by cerebellar hypoplasia in addition to varying degrees of atrophy of the cerebellum and pons . MRI findings include a small cerebellum and brainstem, variable neocortical atrophy, severe and progressive microcephaly and variable ventriculomegaly . Clinically, most patients have severe intellectual disability, swallowing problems, and seizures. Cerebellar Vermis Hypoplasia Cerebellar Vermis Hypoplasia (CVH) consists of isolated vermis hypoplasia and may also be called “Dandy-Walker variant” due to the phenotypic overlap with Dandy-Walker malformation (DWM). DWM includes vermis hypoplasia in addition to several other features such as enlarged posterior fossa. Our Cerebellar Hypoplasia panel includes full gene sequencing of AMPD2, VRK1, TSEN54, TSEN34, TSEN2, RARS2, SEPSECS, OPHN1, CASK, CHMP1A, EXOSC3, TUBA1A, TUBA8, TUBB2B, TUBB3, RELN, VLDLR.
Any gene in the Cerebellar/Pontocerebellar Hypoplasia Panel can also be ordered individually. Please contact us directly for cost and CPT code information.