Children's Mercy Kansas City
Name
Mowat-Wilson Syndrome

Synonyms
ZEB2 gene sequencing

Clinical Description
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).

Performing Locations
Genetics

Specimen Requirements
3-5 mL blood in EDTA lavender top tube

Availability
Routine

Turn Around Time
90 days

Methodology
Next Generation Sequencing

Reference Ranges
See interpretative report

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