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
One Mother's Story

One Mother's Story

After a long three-year struggle trying to have children, our son, Charlie, was born on April 18, 2009. He was our miracle...perfect in every way! When Charlie was five days old, our pediatrician called to notify us that one of the numbers from the heel prick test was a bit high. We headed to the hospital that afternoon for more tests. I will never forget the following day. It was cool and crisp - not a cloud in the sky....

In The News