301-519-2100 • FAX 301-519-2892 • 207 PERRY PARKWAY GAITHERSBURG, MD 20877
SEARCH
Ectrodactyly - Ectodermal Dysplasia - Clefting Syndrome
Split Hand - Split Foot Malformation
Hay-Wells Syndrome
Limb-Mammary Syndrome
TP73L (TP63; p63)
Analysis is performed by bi-directional sequencing of exons 5-8, 13, and 14 of the TP73L (p63; TP63) gene, where the vast majority of mutations have been identified in this group of disorders. The sequencing approach employed by GeneDx is expected to identify >95% of small intragenic mutation. If no mutation is identified in these six exons, sequencing of remainder of the TP73L gene can be performed upon request. Mutations found in the first person of a family to be tested are confirmed by repeat analysis using sequencing, restriction fragment analysis, or another appropriate method.
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
© 2000 - 2012 GeneDx. All rights reserved.
