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Van der Woude Syndrome
Popliteal Pterygium Syndrome

  • IRF6 (Interferon regulatory factor 6)
Using genomic DNA obtained from buccal (cheek) swabs or blood, the coding region (exons 3-9) of the IRF6 gene is screened by bi-directional sequence analysis. Fifty percent of individuals with Van der Woude syndrome and 85% of individuals with PPS show mutations in the IRF6 gene (Kondo et al., 2002). Our method is expected to detect the vast majority of mutations when present, although we will not detect those rare cases with whole-gene deletions.

Information Sheet, including prices and CPT codes Back to the List
Consent Document  
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options  
vanderwoude, lip pit, cleft lip, cleft palate, CL/CP, mucous cyst, faciogenitalpopliteal , hypodontia, syndactyly, popliteal web, IRF6, PPS, cleft uvula

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