ZFHX1B or ZEB2 Gene Analysis
CMH Lab Section
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).
3-2 mL blood in lavender EDTA
Turn Around Time
4 weeks for exon 8 analysis;
an additional 4-8 weeks for full gene sequencing
Testing is done in two steps, beginning with direct sequencing of exon 8 of the ZEB2 gene, where ~50% of mutations are reported. If the patient is negative for an exon 8 mutation, the remaining coding region is sequenced. Sequencing will detect ~80-85% of mutations in the ZEB2 gene. This is based on literature reports of ~15-20% of patients having large scale deletions or duplications that would not be detected by sequencing. For patients who test negative by sequencing, we offer MLPA for deletion analysis.
See interpretative report