TP63/p63-related Syndromes – Selected Exons

Disorders Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) syndrome
Hay-Wells syndrome (ankyloblepharon-ectodermal dysplasia-clefting syndrome)
Isolated split-hand/split-foot malformation (SHFM)
Gene Name TP63/p63
Clinical info Mutations within the p63 gene (TP63, TP73L) at 3q27 can cause variable autosomal dominant disorders including the following conditions:
EEC syndrome includes spilt-hand/foot malformation, ectodermal dysplasia (abnormalities in hair, teeth, skin, nails and/or lacrimal ducts), and cleft lip/palate.
Hay-Wells syndrome includes ectodermal dysplasia, cleft lip/palate and congenital adhesions between the eyelids.
Isolated Split-Hand/Foot Malformation (SHFM) – GGC also has a current research interest in split-hand/foot malformations.
Indications Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutation within a family to allow for carrier testing and prenatal diagnosis.
Detection TP63/p63 mutations are responsible for most cases of EEC and AEC syndrome and a smaller percentage of SHFM cases. Sequencing of exons 5-8, 13 and 14 is performed.
Specimen Requirements 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred.  The minimal blood needed for reliable DNA isolation is 3 ml
Transport The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.
Turnaround time 6 weeks
Prenatal testing Prenatal diagnosis is available if the familial mutation is known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.
CPT Codes Unknown mutation: 81479

Known mutation: 81404

Deletion/Duplication Analysis: 81229
Cost $1200 for sequencing

$350 for known mutation

$700 for deletion/duplication analysis

Prenatal diagnosis for known mutation is $1000.  Please contact the laboratory for more information.

Contact For further information contact This email address is being protected from spambots. You need JavaScript enabled to view it. , MS, Lab Counselor at 1-800-473-9411.

Molecular Diagnostic Lab

The Molecular Diagnostic Lab offers DNA analysis for many genetic disorders via gene sequencing, targeted mutation analysis, MLPA deletion/duplication testing, trinucleotide repeat analysis and next generation sequencing panels.

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