IRF6 Sequencing

Patients with Van der Woude syndrome (VWS) present with one or more of the following traits: lip pits, cleft lip, and cleft palate. This condition is inherited in an autosomal dominant manner. Affected individuals usually have an affected parent, however, penetrance is incomplete. Clinical sensitivity: approximately 70% of patients with VWS have a mutation in IRF6.

Features of Popliteal Pterygium syndrome (PPS) include cleft lip with or without cleft palate, popliteal pterygia, syndactyly, abnormal external genitalia, ankyloblepharon, pyramidal skin on the hallux, and intraoral adhesions. It is inherited in an autosomal dominant manner. Affected individuals usually have an affected parent, however, penetrance is incomplete. Clinical sensitivity: approximately 97% of patients with PPS have a mutation in IRF6.

This laboratory performs Sanger sequencing of the IRF6 gene.

Forms & Docs

Ordering

Place an order

Test Code
S0074

Turn Around Time
3-5 weeks

Billing

CPT Code
81479×1

Ordering Guidance

If there are questions regarding this test, please contact Client Services at 617-553-5880 or clientservices@claritasgenomics.com

Details

Genes Covered
IRF6

Methods
Sanger