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, respectively. IRF6 codes for interferon regulatory factor 6 and GRHL3 codes for grainyhead-like protein 3 homolog.

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Tests Available

By gene: IRF6
Next Generation Sequencing
Test Code: 2307
Deletion / Duplication
Test Code: 2308
NGS/Del Dup Comprehensive
Test Code: 2309

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Test Details

Technical Information
Disease Groups: 
Craniosynostosis and Craniofacial Disorders
CPT Codes: 
81479 x 1
Turnaround Time: 
Typically 2 to 4 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: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 2 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: 2 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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