TP53 Sequencing Test

The TP53 sequencing test is carried out to check the presence of mutations in the TP53 gene. The TP53 gene is the gene that gives instructions for making a tumor protein called p53.The protein prevents the formation of protein by regulating cell division which if uncontrolled can lead to the formation of tumors. The location of this protein is in the nucleus of cells and the mutations and deletions in this gene can be indicative of certain cancers such as breast cancer, bladder cancer, ovarian cancer and the Li Fraumeni syndrome.

No special preparation is required for the test. The doctor should be informed of prior medical history, medications being taken and existing allergies, for specific instructions.

The result is usually classified as mutation detected and mutation not detected. The test is used to detect the presence of Li Fraumeni syndrome. It is used to differentiate between breast cancer and ovarian cancer syndrome (BRCA1, BRCA2 genes). Used in prenatal and antenatal tests to check for mutations in cases with family history of the same. Used to identify people at risk of developing cancers that are related to the development of the Li Fraumeni syndrome. In some cases of individuals having the Li Fraumeni syndrome, the mutation is not detected and other tests may be required.

A sample of blood (about 10-20 ml) in lavender top tube or bone marrow (2 -3 ml) in EDTA tube is taken. The sample is sealed and tested. A bidirectional sequence analysis of the entire coding region (exons 2-11) of the TP53 gene and intron/exon boundaries is performed.