Icahn School of Medicine at Mount Sinai
Mount Sinai - Twitter Mount Sinai - YouTube Mount Sinai - Facebook

Genetic Testing Lab

Test Catalog Molecular Genetics Laboratory Walker Warburg Syndrome

Walker Warburg Syndrome

Test Description:
Walker–Warburg Syndrome (WWS) is an autosomal recessive disorder with characteristic clinical features that include muscle weakness, hypotonia, feeding difficulties, seizures, blindness (from anterior and posterior chamber eye malformations), and male genital anomalies. Brain malformations include cobblestone lissencephaly, kinking of the brain stem, flattening of the pons, and cerebellar hypoplasia. Patients with WWS has a life expectancy of less than 3 years. WWS can be caused by mutations in at least six different genes. In the Ashkenazi Jewish population, a founder mutation for this disorder has been identified in the Fukutin gene (c.1167_1168 insA). The carrier frequency for WWS in the Ashkenazi Jewish population is estimated to be 1/120. Screening for this mutation is expected to detect 95% of WWS carriers in this population. Carrier screening for WWS may be considered for individuals of Eastern European (Ashkenazi) Jewish ancestry before/during pregnancy.

Full gene sequencing is available for reproductive partners of known mutation carriers. Prenatal diagnosis is also available. Prior to ordering prenatal testing, please contact our laboratory at 212-241-7518 to discuss. 

1. Chung, W. et al. Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families. Prenat Diagn 29, 560-9 (2009).
2. Cotarelo, R.P. et al. Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome. Clin Genet 73, 139-45 (2008).
3. Manzini, M.C. et al. Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. Hum Mutat 29, E231-41 (2008).

Specimen Requirements:
Post-natal: Two 5-10 mL tubes of anticoagulated blood in EDTA (lavender top) or two 5-10 mL tubes of anticoagulated blood in ACD (yellow top). 


  • Chorionic Villi: 5-10 mg in conical tube with sterile saline OR transport media
  • Amniotic Flud: 10 ml in conical tube
  • Cultured Cells: two confluent T-25 flasks

     Additionally, please send: 

  • 5-10 ml maternal blood in EDTA (lavender top) required to perform MCC studies on all prenatal samples and in case maternal confirmation studies are necessary
  • 5-10 ml paternal blood in EDTA (lavender top) in case paternal confirmation studies are necessary

Shipping: Ship at room temperature.

Turnaround Time: 10-14 days

CPT Codes: 81400

Consent and Requisition Forms: Carrier Screening Requisition and Consent [PDF]

Additional Information: Expanded Ashkenazi Jewish Carrier Screening brochure [PDF]

Related Tests: Ashkenazi Jewish Carrier Test Panel