ZEB2 gene sequencing
Mowat Wilson syndrome is a mental retardation syndrome associated with multiple malformations such as Hirschsprung disease, congenital heart defects, microphthalmia, agensis of the corpus callosum, and urogenital anomalies, in addition to a recognizable facial phenotype. Mowat Wilson syndrome is caused by defects in the ZEB2 gene (a.k.a SIP-1 or ZFHX1B).
3-5 mL blood in EDTA lavender top tube
Turn Around Time
Next Generation Sequencing
See interpretative report