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p63 Mutation Analysis Test

Last updated May 31, 2017

Approved by: Maulik P. Purohit MD MPH

The p63 Mutation Analysis Test detects abnormalities in the p63 gene. It helps diagnose cancers of the skin, teeth, hair, and nails, along with other developmental disorders.

What are other Names for this Test? (Equivalent Terms)

  • Amplified In Squamous Cell Carcinoma Mutation Analysis Test
  • Chronic Ulcerative Stomatitis Protein Mutation Analysis Test
  • Transformation-Related Protein 63 Mutation Analysis Test

What is p63 Mutation Analysis Test? (Background Information)

  • p63 mutation refers to an alteration in the p63 gene. It is associated with cancers of the skin, teeth, hair, and nails, as well as certain developmental abnormalities
  • The p63 gene gives instructions for the p63 protein. The p63 protein helps prevent cancer: it is a tumor suppressor. P63 also ensures proper development of the limbs, face, urinary system, and other structures
  • P63 guards against cancer by regulating the conversion of genes to protein. It helps control the process of creating an intermediate compound, called RNA, from DNA. This called transcription; p63 is a transcription factor. RNA is then made into protein
  • The genes for which p63 is responsible include genes linked to cell growth, development, and even self-destruction (apoptosis)
  • Abnormalities in the p63 gene may result in a p63 protein that is defective. A defective p63 protein is unable to function as a tumor suppressor, and the result may be the development of cancer. It may also be unable to ensure growth and maintenance of bodily tissues, causing certain developmental disorders
  • The p63 Mutation Analysis Test detects abnormalities in the p63 gene. It helps diagnose cancers of the skin, teeth, hair, and nails, along with other developmental disorders

The molecular testing, in general, can be performed using a variety of methods. Some of these methods include:

  • In situ hybridization techniques, such as fluorescence in situ hybridization (FISH)
  • Immunohistochemistry (IHC)
  • Next-generation sequencing (NGS)
  • Polymerase chain reaction (PCR)
  • Comparative genomic hybridization (CGH)
  • Karyotyping including spectral karyotyping
  • mRNA analysis
  • Tissue microarrays (TMAs)
  • Southern blot test
  • Northern blot test
  • Western blot test
  • Eastern blot test

The methodology used for the test may vary from one laboratory to another.

Note: Molecular testing has limitations due to the molecular method and genetic mutational abnormalities being tested. This can affect the results on a case-by-case basis. Consultation with your healthcare provider will help in determining the right test and right molecular method, based on individual circumstances.

What are the Clinical Indications for performing the p63 Mutation Analysis Test?

Following are the clinical indications for performing the p63 Mutation Analysis Test:

  • Ectrodactyly
  • Syndactyly
  • Mammary hypoplasia
  • Excessive freckling
  • Hypodontia
  • Lacrimal duct abnormalities
  • Hypotrichosis
  • Onychodysplasia

In general, the molecular genetic testing is undertaken in the following situations: 

  • To assist (and in some cases, confirm) the initial diagnosis
  • If there is a family history of the medical disorder/condition
  • To distinguish other conditions that have similar features (signs and symptoms)
  • To help in determining treatment options
  • To confirm recurrence of the tumor: Tumor recurrence can either be at the original tumor site, or at a distant location (away from the initial site)

How is the Specimen collected for p63 Mutation Analysis Test?

Following is the specimen collection process for p63 Mutation Analysis Test:

The specimen sample requirements may vary from lab to lab. Hence, it is important to contact the testing lab for exact specimen requirements, before initiating the testing process.

  • Sample on which the test is performed may include:
    • Peripheral blood in individuals showing signs and symptoms suspected of TTT
    • In case of expectant mothers, prenatal testing through amniotic fluid and chorionic villi sampling
    • Fresh tumor tissue during biopsy: In some cases, the testing can be performed on tumor tissue also
    • Formalin-fixed paraffin-embedded solid tumor tissue (FFPE tumor tissue), often referred to as paraffin block of the tumor
    • Unstained tissue slides
  • Process of obtaining the sample: As outlined by the laboratory testing facility
  • Preparation required: As outlined by the laboratory testing facility


  • In some cases, a different source of specimen (such as peripheral blood, bone marrow biopsy specimen, or other body fluids) may be acceptable to the laboratory performing the test
  • Occasionally, additional samples may be required to either repeat the test or to perform follow-up testing
  • Depending on the location of testing, it may take up to 2 weeks’ turnaround time, to obtain the test results
  • Many hospitals preserve the paraffin blocks for at least 7 years. In general, older paraffin blocks (over 5 years) may affect the detection of specific mutations, due to degradation of the tumor specimen over time

Cost of p63 Mutation Analysis Test:

  • The cost of the test procedure depends on a variety of factors, such as the type of your health insurance, annual deductibles, co-pay requirements, out-of-network and in-network of your healthcare providers and healthcare facilities
  • In many cases, an estimate may be provided before the test is conducted. The final amount may depend upon the findings during the test procedure and post-operative care that is necessary (if any)

What is the Significance of the p63 Mutation Analysis Test Result?

The presence of a mutation in the p63 gene indicates a positive result for the p63 Mutation Analysis Test. This may point to a diagnosis of any of the following:

  • Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome
  • Limb-mammary syndrome (LMS)
  • Ectodermal dysplasia

The laboratory test results are NOT to be interpreted as results of a "stand-alone" test. The test results have to be interpreted after correlating with suitable clinical findings and additional supplemental tests/information. Your healthcare providers will explain the meaning of your tests results, based on the overall clinical scenario.

Additional and Relevant Useful Information:

  • The p63 gene resides on a position of the chromosome called 3q28 i.e., the long (q) arm of chromosome 3 in location 28
  • Many laboratories may not have the capability to perform this test. Only highly-specialized labs with advanced facilities and testing procedures may perform this test

Certain medications that you may be currently taking may influence the outcome of the test. Hence, it is important to inform your healthcare provider, the complete list of medications (including any herbal supplements) you are currently taking. This will help the healthcare provider interpret your test results more accurately and avoid unnecessary chances of a misdiagnosis.

What are some Useful Resources for Additional Information?

Please visit our Laboratory Procedures Center for more physician-approved health information:


References and Information Sources used for the Article:

https://ghr.nlm.nih.gov/primer/testing/genetictesting (accessed on 05/10/2017)

https://www.cdc.gov/mmwr/preview/mmwrhtml/rr5806a1.htm (accessed on 05/10/2017)

http://www.nature.com/gim/journal/v10/n5/full/gim200852a.html (accessed on 05/10/2017)

http://pediatrics.aappublications.org/content/106/6/1494 (accessed on 05/10/2017)

Orphanet: ADULT syndrome. (n.d.). Retrieved from http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=978

TP63 gene - Genetics Home Reference. (n.d.). Retrieved from https://ghr.nlm.nih.gov/gene/TP63#location

Helpful Peer-Reviewed Medical Articles:

Carrano, A. V., et al. Measurement and purification of human chromosomes by flow cytometry and sorting. Proceedings of the National Academy of Sciences 76, 1382–1384 (1979)

Drets, M. E., & Shaw, M. W. Specific banding patterns of human chromosomes. Proceedings of the National Academy of Sciences 68, 2073–2077 (1971)

Druker, B. J. Perspectives on the development of a molecularly targeted agent. Cancer Cell 1, 31–36 (2002)

Parra, I., & Windle, B. High resolution visual mapping of stretched DNA by fluorescent hybridization. Nature Genetics 5, 17–21 (1993) doi:10.1038/ng0993-17

Pinkel, D., et al. High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nature Genetics 20, 207–211 (1998) doi:10.1038/2524

Speicher, M. R., et al. Karyotyping human chromosomes by combinatorial multi-fluor FISH. Nature Genetics 12, 368–375 (1996) doi:10.1038/ng0496-368

Nicholson, A. G., Gonzalez, D., Shah, P., Pynegar, M. J., Deshmukh, M., Rice, A., & Popat, S. (2010). Refining the diagnosis and EGFR status of non-small cell lung carcinoma in biopsy and cytologic material, using a panel of mucin staining, TTF-1, cytokeratin 5/6, and P63, and EGFR mutation analysis. Journal of Thoracic Oncology, 5(4), 436-441.

Thomason, H. A., Zhou, H., Kouwenhoven, E. N., Dotto, G. P., Restivo, G., Nguyen, B. C., ... & Dixon, J. (2010). Cooperation between the transcription factors p63 and IRF6 is essential to prevent cleft palate in mice. The Journal of clinical investigation, 120(5), 1561-1569.

Kouwenhoven, E. N., Van Heeringen, S. J., Tena, J. J., Oti, M., Dutilh, B. E., Alonso, M. E., ... & Bolat, E. (2010). Genome-wide profiling of p63 DNA–binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus. PLoS Genet, 6(8), e1001065.

Bishop, J. A., Teruya-Feldstein, J., Westra, W. H., Pelosi, G., Travis, W. D., & Rekhtman, N. (2012). p40 (ΔNp63) is superior to p63 for the diagnosis of pulmonary squamous cell carcinoma. Modern pathology, 25(3), 405-415.

Pelosi, G., Rossi, G., Bianchi, F., Maisonneuve, P., Galetta, D., Sonzogni, A., ... & Graziano, P. (2011). Immunhistochemistry by means of widely agreed-upon markers (cytokeratins 5/6 and 7, p63, thyroid transcription factor-1, and vimentin) on small biopsies of non-small cell lung cancer effectively parallels the corresponding profiling and eventual diagnoses on surgical specimens. Journal of Thoracic Oncology, 6(6), 1039-1049.

Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: May 31, 2017
Last updated: May 31, 2017