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Ectrodactyly - Ectodermal Dysplasia - Clefting Syndrome
Split Hand - Split Foot Malformation
Hay-Wells Syndrome
Limb-Mammary Syndrome
TP73L (TP63; p63)
Using genomic DNA obtained from buccal swabs, exons 5-8, 13, and 14 of the p63 gene on chromosome 3q27 are screened by bi-directional sequence analysis. This is expected to identify the vast majority of TP63 mutations present in this group of disorders. If a family has been found to link to 3q27, and no mutation in TP63 is found by this screening method, the remainder of the 15 exons of the TP63 gene can be screened upon request. Prenatal diagnosis is available once the mutation in a family has been defined.
Information Sheet, including prices and CPT codes
Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate (EEC) / Split Hand-Split Foot Malformation (SHFM) / Hay-Wells syndrome. Prenatal Testing Services.
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
ecleft, ectodermal, dysplasia, Hay, Wells, HWS, AEC, p63, p 63
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