Macrocephaly refers to an abnormally large head, OFC greater than 98th percentile, inclusive of the scalp, cranial bone and intracranial contents. Megalencephaly, brain weight/volume ratio greater than 98th percentile, results from true enlargement of the brain parenchyma. Megalencephaly is typically accompanied by macrocephaly, however macrocephaly can occur in the absence of megalencephaly. Both macrocephaly and megalencephaly can been seen as isolated clinical findings as well as clinical features of a mutli-systemic syndromic diagnosis.
Our Macrocephaly Panel includes sequence analysis of the following 15 genes: CUL4B, EZH2, GLI3, GPC3, HEPACAM, MED12, NFIA, NFIX, NSD1, OFD1, PTEN, RAB39B, RIN2, RNF135, UPF3B.
Any gene in the Macrocephaly Panel can also be ordered individually. Please contact us directly for cost and CPT code information.