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Mowat-Wilson Syndrome via the ZEB2 Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
ZEB2 81405 81405,81404 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8127ZEB281405 81405,81404 $990 Order Options and Pricing

Pricing Comments

Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.


Genetic Counselors


  • Greg Fischer, PhD

Clinical Features and Genetics

Clinical Features

Mowat-Wilson syndrome (MWS) is a complex developmental disorder with structural anomalies such as Hirschsprung disease, genitourinary anomalies (particularly hypospadias in males), congenital heart defects, agenesis or hypogenesis of the corpus callosum and eye defects such as microphthalmia and Axenfeld anomaly. Functional differences include moderate to severe intellectual disability, severe speech impairment with relative preservation of receptive language, seizures, growth retardation with microcephalya and chronic constipation in those without Hirschsprung disease (Adam et al. 2013).

Mowat-Wilson syndrome has many clinical features in common with Goldberg-Shprintzen megacolon syndrome, but the two disorders are genetically distinct (Mowat et al. 2003). Mowat-Wilson syndrome is caused by mutations in ZEB2, while Goldberg-Shprintzen megacolon syndrome is caused by mutations in the KIAA1279 gene.


Mowat-Wilson syndrome is a rare autosomal dominant disorder with an estimated incidence of 1 per 50,000-70,000 live births (Ghoumid et al. 2013). About 45 cases have been reported so far (Mowat et al. 2003). Most patients with Mowat-Wilson syndrome have de novo heterozygous mutations in the ZEB2 gene (Ghoumid et al. 2013), however, rare affected sibs have been reported, suggesting germline somatic mosaicism in 1 of the parents (McGaughran et al. 2005; Cecconi et al. 2008).

ZEB2 belongs to the Zinc finger family of genes. ZEB2 protein is a transcription factor that plays a critical role in the formation of many organs and tissues before birth: neural crest, digestive tract, skeletal muscles, kidneys, and other organs. Approximately 80% of patients with Mowat-Wison syndrome have a nonsense or frameshift mutation in ZEB2, while most of the rest have gross deletions or translocations (Saunders et al. 2009). Rare missense or in-frame mutations in ZEB2 lead either to a milder form of MWS or to individuals with atypical features.

Clinical Sensitivity - Sequencing with CNV PG-Select

MWS is associated with heterozygous deletions, translocations and intragenic mutations in ZEB2 (Mowat et al. 2003). Approximately 80% of patients with Mowat-Wison syndrome have a nonsense or frameshift mutation in ZEB2 (Saunders et al. 2009). Most of the remainder have large deletions which are not detectable by sequencing.

Testing Strategy

This test provides full coverage of all coding exons of the ZEB2 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Consensus clinical diagnostic criteria for Mowat-Wilson syndrome (MWS) has not been established. The diagnosis should be considered in individuals with typical facial features (widely spaced eyes, broad medial eyebrows, low hanging columella, prominent or pointed chin, uplifted earlobes with a central depression) and Hirschsprung disease, genitourinary anomalies, congenital heart defects, agenesis or hypogenesis of the corpus callosum and eye defects.


Official Gene Symbol OMIM ID
ZEB2 605802
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Mowat-Wilson Syndrome AD 235730

Related Test

Opitz G/BBB Syndrome Panel


  • Adam MP, Conta J, Bean LJ. 2013. Mowat-Wilson Syndrome. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301585
  • Cecconi M, Forzano F, Garavelli L, Pantaleoni C, Grasso M, Dagna Bricarelli F, Perroni L, Maria E Di, Faravelli F. 2008. Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene. Am. J. Med. Genet. A 146A: 3095–3099. PubMed ID: 19006215
  • Ghoumid J, Drevillon L, Alavi-Naini SM, Bondurand N, Rio M, Briand-Suleau A, Nasser M, Goodwin L, Raymond P, Yanicostas C, Goossens M, Lyonnet S, et al. 2013. ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome. Hum. Mol. Genet. 22: 2652–2661. PubMed ID: 23466526
  • McGaughran J, Sinnott S, Moal FD-L, Wilson M, Mowat D, Sutton B, Goossens M. 2005. Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation. American Journal of Medical Genetics Part A 137A: 302–304. PubMed ID: 16088920
  • Mowat DR, Wilson MJ, Goossens M. 2003. Mowat-Wilson syndrome. Journal of medical genetics 40: 305–310. PubMed ID: 12746390
  • Saunders CJ, Zhao W, Ardinger HH. 2009. Comprehensive ZEB2 gene analysis for Mowat-Wilson syndrome in a North American cohort: a suggested approach to molecular diagnostics. Am. J. Med. Genet. A 149A: 2527–2531. PubMed ID: 19842203


Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

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Note: acceptable specimen types are whole blood and DNA from whole blood only.
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