p63-Related Syndromes

(Lab studies request form) | CPT Codes/Price List (PDF)

Mutations within the p63 gene (TP63, TP73L) at 3q27 can cause variable autosomal dominant disorders including the following conditions:

Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. 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 also called ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome. This condition includes ectodermal dysplasia, cleft lip/palate and congenital adhesions between the eyelids.

Isolated Split-Hand/Foot Malformation (SHFM)

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. If necessary, ACD solution A Vacutainer tubes (yellow top) may be submitted. If sending cultured cells for testing, please include a control flask. Please contact the laboratory for more information.

Transport: Please contact the Molecular Diagnostic Lab Coordinator (1-800-473-9411) for shipping information. 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.

Analysis standards: Analysis will be complete within 6 weeks of sample receipt. The laboratory director and technical staff members independently assess the quality and interpretation of the test. The Greenwood Genetic Center Molecular Diagnostic Laboratory is CLIA certified and actively participates in CAP proficiency surveys.

Reporting of Test Results: Test results with interpretation will be mailed and/or faxed following completion of the test. Verbal reports will be telephoned to the person(s) requesting the test when an abnormal test result occurs. Consultation with the laboratory director and explanations of testing protocols are available upon request.

Unknown mutation:

CPT Codes: 83890, 83898 (x6), 83904 (x5), 83909 (x5), 83912

Known mutation:

CPT Codes: 83890, 83898, 83904 (x2), 83909, 83912