GTR Home > Tests > ZEB2 deletion/duplication analysis


Test name


ZEB2 deletion/duplication analysis

Purpose of the test


This is a clinical test intended for Help: Diagnosis, Monitoring, Mutation Confirmation, Pre-symptomatic, Risk Assessment, Screening



1 condition tested. Click Indication tab for more information.


Molecular Genetics
DDeletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)

Summary of what is tested

1 genes and variants. Click Methodology tab for more information.


Clinical validity


Mutations of the Zinc Finger E Box-Binding Homeobox 2 gene (ZEB2) [OMIM #605802] have been identified in patients with MWS. The ZEB2 gene maps to 2q22 and has 9 coding exons. Sequencing of ZEB2 detects mutations in approximately 80% of individuals with a clinical diagnosis of MWS. An additional 17% of ZEB2 mutations are large or intermediate-sized deletions that would not be detected by sequencing. ZEB2 encodes the transcriptional corepressor, Smad Interacting Protein 1 (SIP1), which is detected in nearly all human tissues (heart, brain, placenta, lung liver, skeletal muscle) and is likely to have a crucial role in embryonic development.

  • 1. Adam, MP, Bean LJH, Miller VR. (Updated 11 Feb 2008). Mowat-Wilson syndrome. In: GeneReviews at GeneTests: Medical Genetics Information Resource. Copyright, University of Washington, Seattle. 1997-2011. Available at Accessed 27 Jan 2011. 2. Garavelli, L, Mainardi, PC. "Mowat-Wilson Syndrome". (2007) Orphanet Journal of Rare Diseases, 2:42. 3. Mowat DR, Wilson MJ, Goossens M. "Mowat-Wilson syndrome". (2003) J Med Genet, 40: 305–10. 4. Dastot-Le Moal, F., et al. "ZFHX1B mutations in patients with Mowat-Wilson syndrome". (2007) Hum Mutat, 28:313-321.

Clinical utility


Not provided

How to order


•All samples should be shipped via overnight delivery at room temperature. •No weekend or holiday deliveries. •Label each specimen with the patient’s name, date of birth and date sample collected. •Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
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Test services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Deletion/Duplication Testing
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

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