TP63-related disorders : TP63 Sequencing

Test Information

TP63 sequencing is a molecular test used to identify variants in the gene associated with TP63-related disorders including Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) syndrome, Hay-Wells syndrome, and split-hand/split foot malformation.

Turnaround Time

6 weeks

CPT Code(s)

81479

Cost

$1,200

Genes

Clinical Information

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 mutations within a family to allow for carrier testing and prenatal diagnosis.

Methodology

Sanger Sequencing

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 7 ml of peripheral blood collected in an EDTA (lavender top) tube is the preferred specimen type. The minimal blood needed for reliable DNA isolation is 3 ml. Extracted DNA, dried blood spots, and saliva are also accepted for this test.

Transport Instructions

The specimen should be kept at room temperature and delivered via overnight shipping. 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.

Prenatal Testing Information

Prenatal diagnosis is available if the familial mutations are 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.

Have Questions Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

Molecular Testing, Sanger Sequencing
Lucy's Story

Lucy's Story

When our daughter Lucy had a metabolic crisis at 7 days old, we were shocked and devastated to find out that she was born with a rare genetic disorder (MSUD). Her newborn screening results did not make it back in time to prevent the crisis, and no one at our local hospital was familiar with the disease. They did not know how to treat her. Calls were made to Greenwood Genetic Center to confirm her diagnosis...

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