Li Fraumeni Syndrome-TP53 Sequencing Test Cost & Procedure

The TP53 sequencing test is used to determine whether the TP53 gene has any mutations. The gene that produces the tumour protein p53 is known as the TP53 gene. By controlling cell division, which if unchecked can result in tumour growth, the protein stops the production of protein. This protein is found in the nucleus of cells, and deletions and mutations in this gene have been linked to several malignancies, including ovarian, breast, bladder, and Li Fraumeni syndrome.

Why is this examination suggested?

It is suggested if:

• Before turning 45, you were diagnosed with a bone or soft tissue malignancy.
• Before the age of 46, you received a diagnosis of premenopausal breast cancer, a brain tumour, leukaemia, or lung cancer.
• Before the age of 46, you had one or more tumours.
• Li-Fraumeni syndrome and/or cancer diagnosis in one or more members of your family before the age of 45

Preparation:

For the test, no extra preparation is needed. Prior medical histories, current medications, and existing allergies should be disclosed to the doctor for particular recommendations.

TP53 Sequencing Test Applications:

• The outcome is often divided into two categories: mutation detected and mutation not detected.
•  It is employed to distinguish between ovarian cancer syndrome and breast cancer (BRCA1, BRCA2 genes).
• Used to search for mutations during prenatal and antenatal testing in circumstances where the same mutation has a family history. used to determine who is most at risk for cancers that are connected to the emergence of the Li Fraumeni syndrome.
• The mutation is not always found in people with Li Fraumeni syndrome, and in other

How to do the TP53 Sequencing Test?

• It is necessary to collect a sample of bone marrow (2–3 ml) in an EDTA tube or blood (10–20 ml) in a lavender top tube.
• After testing, the sample is sealed.
• The whole coding region (exons 2-11) of the TP53 gene as well as the intron/exon boundaries are subjected to a bidirectional sequencing analysis.