BRCA1 Mutation Analysis (Sequencing) Test

The BRCA1 mutation Analysis Sequencing is done to study the damaging mutations occurring in the BRCA1 gene. This gene is responsible for the production of proteins, which prevent the development of tumours in Humans. The mutations in BRCA1 though rare, increases the chances of developing cancer in people who inherit the mutated gene. It is known to cause cancers of breast and ovary in women. In men who inherit the harmful mutated BRCA1 there is increase in the chance of developing malignancies of the Prostate gland. To detect the mutation in the gene it needs to be extracted from the DNA

A blood sample is collected using a syringe and needle from the vein. The test does not require any form of tissue biopsy. Sometimes a saliva sample can be also taken for DNA extraction. There are not any type of dietary restrictions required before the scheduled test.

The testing may help you identify whether you have the potential risk of developing cancer. You will need genetic counselling which is usually provided by physicians specializing in oncology. They can explain the test and its implications with you and help you chart out an action plan. It is important to know that a negative result does not imply that you may never develop cancer.

The physician may refer you for this test if you fall under high risk criteria for cancers of the breast or ovaries. These test are carried out at institutions that specialise in cancer genetics. A blood or saliva sample once collected by a healthcare professional and carefully sealed and marked. It is then sent to labs specializing in BRCA 1 and 2 testing.