Van der Woude syndrome (VWS) is the most common syndromic form of cleft lip and palate. It is an autosomal dominant disorder characterized by pits and/or sinuses of the lower lip, cleft lip, cleft palate and uvular anomalies. Other findings may include ankyloglossia and hypodontia. VWS1 (MIM 119300) and VWS2 (MIM 606713) are caused by mutations in the IRF6 and GRHL3 genes, more

Tests Available

By gene: GRHL3
Sanger Sequencing
Test Code: 2310
Deletion / Duplication
Test Code: 2311
Sanger/Del Dup Comprehensive
Test Code: 2312

Related Panels
Van der Woude syndrome 1 / 2 (2 genes)
Sanger $1,100
Comp $1,750
Del Dup $750

Test Details

Technical Information
Disease Groups: 
Craniosynostosis and Craniofacial Disorders
CPT Codes: 
81479 x 1
Turnaround Time: 
Typically 1 to 2 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
  3. Fibroblasts: 4 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)

Ship all specimen types at room temperature by overnight courier. Do not freeze.

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