Mowat-Wilson Syndrome (ZEB2 Deletion/Duplication Analysis)
- LIS Mnemonic: MBZEB2DEL
Collect
Collect whole blood in a purple top (EDTA) tube.
Volume Required
5ml
Minimum Required
3ml
Transport
Refrigerate sample until shipment. Send the sample at room temperature with overnight delivery for receipt Monday through Friday within 24 hours of collection.
Stability
Whole blood can be refrigerated until shipment.
Unacceptable conditions
Heparinized specimens, severely hemolyzed specimens, frozen, clotted or possibly commingled specimens, blood in non-sterile or leaky containers, mislabeled or inappropriately labeled specimens.
Specimen Handling
Do not heat, freeze or centrifuge blood before shipment. Refrigerate sample until shipment.
Days Performed
Mon - Fri 9:00am to 4:00pm
Reported
4-6 weeks
CPT
81479
Disease Information
Clinical Features:
Mowat-Wilson syndrome (MWS) is characterized by intellectual disability, severe speech impairment, Hirschsprung disease or severe constipation, genitourinary anomalies, congenital heart defects, agenesis or hypogenesis of the corpus callosum, eye defects (microphthalmia and Axenfeld anomaly), growth retardation, epilepsy, and microcephaly. Typical facial features include medially flared broad eyebrows, pointed chin, hypertelorism, uplifted ear lobes with a central depression and prominent columella.
Molecular Genetics:
All patients with a confirmed clinical diagnosis of MWS have mutations in the ZEB2 gene. ZEB2 is located on chromosome 2p22 and it encodes Smad-interacting protein-1 (SMADIP1). Missense, splice site, nonsense, and large deletions have been identified in the ZEB2 gene.
Test Methods:
Large deletions and duplications will be detected using multiplex ligation-dependent probe amplification assay (MLPA).
Detection Rate:
Large deletions within the ZEB2 gene are detected in roughly 17% of patients with MWS. The majority of cases are de novo.
Related Tests:
Known mutation analysis is available to family members for mutations previously identified by sequence analysis.
Results:
Test results with interpretation will be mailed and/or faxed to the referring physician or send out lab following completion of the test. Additional reports will be provided as requested.
Utility:
The clinical utility of the assay is to support a clinical diagnosis of the disease, facilitate genetic counseling, and assess the risk to other first degree relatives and to facilitate testing of at - risk family members.
Remarks
Whole blood in EDTA purple top tubes is the preferred sample. High molecular weight genomic DNA, cheek epithelial cells, or other samples containing DNA may be acceptable. Contact the laboratory for specific instructions regarding such samples before sending the sample.
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