Van der Woude Syndrome

Van der Woude syndrome consists of clefting of the lip, palate, or both. Lip pits are seen in 80% of patients, and mucous cysts of the lower lip also may be observed, although they occur less frequently. The disorder is variable, and affected family members often show diverse phenotypic expression. Hypodontia may be present, and individuals may be missing central and lateral incisors, canines and/or bicuspids.

Tests Available

Forms and Documents

Test Details

GRHL3, IRF6
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management
  • Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies
  • Genetic counseling, especially recurrence risk and prenatal diagnosis

Ordering

TL51
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.