BRCA1 and BRCA2 Deletion/Duplication Analysis

This test measures deletions or duplications in the BRCA1 and BRCA2 genes. Identifying these genetic alterations is crucial in assessing the risk of developing breast and ovarian cancers. Detection allows for timely preventive measures or treatment interventions.

This test is done primarily to:

• Determine the risk of developing breast and ovarian cancers
• Guide treatment decisions for individuals with identified mutations
• Assist in family planning decisions and genetic counselling
• Evaluate cancer risk for individuals with a family history of cancer

This test may be recommended in the following conditions:

• Family history of breast or ovarian cancer
• Personal history of early-onset breast cancer
• Previous identification of BRCA gene mutations
• High-risk populations based on genetic factors
• Individuals considering preventive mastectomy or oophorectomy

• Abnormal results may indicate an increased risk of breast and ovarian cancer
• Genetic counselling may be recommended for further risk assessment and management options

During the test you may expect:

• Blood sample collection via venipuncture
• Quick and minimally invasive procedure
• May cause mild discomfort during blood draw

Before testing:

• No specific dietary restrictions are required.
• Inform your doctor about medications, supplements, or previous tests.
• Understand the implications of test results through genetic counselling.

Consult your healthcare provider for specific requirements.

Other tests that may be recommended to you include:

• Genetic Counselling: Discuss test results, implications, management options
• Breast MRI: Screening tool for high-risk individuals to detect early signs of cancer
• Hormone Receptor Testing: Determines hormone sensitivity of breast cancer cells for treatment planning

• BRCA Gene Mutation Screening
• Genetic Testing For Hereditary Breast and Ovarian Cancer Syndrome

Hereditary Breast and Ovarian Cancer Syndrome is a genetic condition caused by mutations in the BRCA1/BRCA2 genes. When there are multiple cases of breast and/or ovarian cancer in the same family a diagnosis of Hereditary Breast and Ovarian Cancer Syndrome (HBOC) is suspected. Individuals with these mutations have a higher lifetime risk of developing breast, ovarian, and other cancers compared to the general population.