Children's Mercy Hospitals and Clinics
Name
Mowat-Wilson Syndrome Dosage Testing

Synonyms
ZFHX1B or ZEB2 Duplication/Deletion Testing

CMH Lab Section
Molecular Genetics

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).

Specimen Requirements
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.

Availability
Available for patients with negative sequencing results.

Turn Around Time
2-4 weeks

Methodology
MLPA (multiple ligation probe assay) is used to test each exon of the ZEB2 gene for changes in copy number.

Ranges
See interpretative report

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