Microcephaly is typically defined as an occipitofrontal circumference (OFC) of at least 2 standard deviations below the mean. Microcephaly may be congenital, or can be acquired postnatally. Microcephaly can have a genetic etiology, however the finding of microcephaly can also be due to other environmental factors such as teratogens and infection. Microcephaly may be observed as an isolated finding, or as part of syndrome. Our Microcephaly Sequencing Panel includes 56 genes associated with congenital and postnatal microcephaly. For patients who are strongly suspected to have a diagnosis of Autosomal Recessive Primary Microcephaly, a more targeted panel is also available. Please see our website for more information.
Our Microcephaly Sequencing Panel includes sequence analysis of the following 56 genes: ARFGEF2, ASPM, ASXL3, ATR, ATRX, CASC5, CASK, CDC6, CDK5RAP2, CDK6, CDKL5, CDT1, CENPJ, CEP135, CEP152, CEP63, DYRK1A, IER3IP1, FOXG1, KIF11, LIG4, MCPH1, MECP2, MED17, NBN, NDE1, NHEJ1, NIN, ORC1, ORC4, ORC6, PCNT, PHC1, PNKP, RAB18, RAB3GAP1, RAB3GAP2, RAD50, RBBP8, SLC25A19, SLC2A1, SLC9A6, STAMBP, STIL, TBC1D20, TCF4, TSEN2, TSEN34, TSEN54, TRAPPC9, TRMT10A, TUBGCP6, UBE3A, WDR62, ZEB2, ZNF335.
Any gene in the Microcephaly Sequencing Panel can also be ordered individually. Please contact us directly for cost and CPT code information.