Mowat-Wilson Syndrome Dosage Testing
ZFHX1B or ZEB2 Duplication/Deletion Testing
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).
For patients previously tested in our laboratory, it is unlikely that we will need an additional sample. Please call the laboratory at (816)234-3588 to inquire.
For new patients: please send 3 mL EDTA lavender.
Available for patients with negative sequencing results.
Turn Around Time
MLPA (multiple ligation probe assay) is used to test each exon of the ZEB2 gene for changes in copy number.
See interpretative report