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: GRHL3
Next Generation Sequencing
$990
Test Code: 2310
Deletion / Duplication
$990
Test Code: 2311
NGS/Del Dup Comprehensive
$1,365
Test Code: 2312

Related Panels
Van der Woude syndrome NGS panel (2 genes)
NGS $995
Del Dup $990
Comp $1,370

Test Details

Technical Information
Genes: 
GRHL3
Disease Groups: 
Craniosynostosis and Craniofacial Disorders
MIM: 
606713
Billing
Price: 
$990
CPT Codes: 
81479 x 1
Ordering
SKU:
2310
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: 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: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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