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BRCA1 and BRCA2 Profile Test

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BRCA1 and BRCA2 Test Overview

The BRCA1 and BRCA2 test is a genetic test designed to identify mutations in the BRCA1 and BRCA2 genes. These genes play a crucial role in repairing damaged DNA, and mutations in them can significantly increase the risk of developing breast and ovarian cancers. The test involves analysing a DNA sample, typically obtained from a blood sample, to detect any harmful mutations in these genes.

BRCA (Breast cancer) genes are tumor suppressor genes, which due to certain mutations or deletions may increase the risk for breast and ovarian cancers in some patients. BRCA 1 & 2 Profile using the NGS technology offers a strong approach for identifying and discovering novel genes linked to cancer susceptibility, as well as the opportunity to counsel patients and their families on screening, surveillance, and risk-reduction strategies.

Written by - Dr. Shibani R, Medical Writer, Medical Affairs

Reasons for Undergoing the BRCA1 and BRCA2 Test

There are several reasons why you may consider undergoing the BRCA testing:

  • Family History: If you have a family history of breast or ovarian cancer, especially if multiple relatives have been diagnosed at a young age, you may want to get tested to understand your own risk.
  • Personal History: If you have already been diagnosed with breast or ovarian cancer, you may undergo testing to guide treatment decisions and inform family members about their potential risk.
  • Genetic Counselling: The test helps provide genetic counselling for families where BRCA mutations are identified, allowing at-risk relatives to consider preventive measures.
  • Public Health Concerns: Given the high prevalence of BRCA mutations in the Indian population, especially among younger women, this test can help in early detection and prevention strategies.

List of Parameters Considered During the BRCA1 and BRCA2 Test

During BRCA testing, specific mutations in the BRCA1 and BRCA2 genes are detected. Here's what they indicate:

  • Mutation Detection: The test checks for any harmful mutations in the BRCA1 and BRCA2 genes. If a mutation is detected, it indicates an increased risk of developing breast or ovarian cancer.
  • Sequencing and MLPA: The test may include sequencing to identify point mutations and MLPA (Multiplex Ligation-dependent Probe Amplification) to detect large deletions or duplications in the genes.

BRCA1 and BRCA2 Test Preparation

Preparing for BRCA testing is a straightforward process:

  • You can order a sample collection kit online or via a telephonic call.
  • Use the kit to collect a DNA sample, typically 4 ml of blood in an EDTA tube.
  • Pack the sample according to the instructions and send it back to the testing facility.
  • There is no need for fasting or any special preparation before the blood sample is collected.

BRCA1 and BRCA2 Test Results & Interpretation

The results of the BRCA testing can be interpreted as follows:

  • Positive Result: If a harmful mutation is detected, it means you have an increased risk of developing breast or ovarian cancer. Your full siblings have a 50% risk of carrying the same mutation.
  • Negative Result: If no mutation is detected, it does not completely rule out the risk of cancer, but it indicates that you do not carry the specific BRCA1 or BRCA2 mutation tested for.
  • Variant of Uncertain Significance (VUS): Sometimes, the test may identify a variant that has not been clearly linked to an increased risk of cancer. Further genetic counselling and monitoring may be recommended in such cases.

Home Collection for BRCA1 and BRCA2 Test Near You

Metropolis Healthcare offers a convenient home sample collection option for the BRCA testing. A trained phlebotomist will come to your doorstep to collect the blood sample, ensuring your comfort and safety while maintaining high standards of sample handling and testing accuracy. You can expect timely and reliable results, empowering you to take proactive steps in managing your health. Metropolis Healthcare's commitment to making healthcare accessible underscores their dedication to providing quality diagnostic solutions conveniently at home.

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BRCA1 and BRCA2 Profile Test Price

Metropolis Healthcare is a leading diagnostics centre and pathology lab in India equipped with the latest state-of-the-art technologies that provides the BRCA1 and BRCA2 Profile Test with a clear pricing structure.

The BRCA1 and BRCA2 Profile Test Price in Akola is ₹ 18,400 .

We are committed to deliver accurate and quality results from the best labs in India with complete transparency regarding test cost and turnaround time. No matter where you are, we strive to offer patients high-quality service that is affordable and accessible.

Frequently Asked Questions

The profile measures the mutations in the BRCA 1 & 2 genes based on the NGS technology.

  • BRCA gene test is beneficial in predicting the risk of cancer diagnosis in people with susceptible genes
  • Test may be done if the patient is diagnosed with breast or ovarian cancer (to establish cause of cancer) or if the patient has blood relatives who have had ovarian or breast cancer.

 

Those with family history of:

  • Breast, Ovarian, fallopian tube, pancreatic, peritoneal or prostate cancers.
  • Breast Cancer diagnosed before age of 45
  • First degree relative with ovarian cancer
  • Male breast cancer
  • People belonging to certain ethnicity with positive family cancer history.
  • Individuals with triple negative breast cancer below 60 years of age.

This test requires a blood sample. The sample is tested for mutations in the BRCA 1 & 2 genes.

Duly signed BRCA Proforma, BRCA1-2 Consent Form

Positive result may indicate mutations in the BRCA 1 and 2 genes, and based on that the variants may be classifies as:

Known Pathogenic, Likely pathogenic, VUS (Variants of unknown significance), Likely benign and Known benign

BRCA testing is a genetic test that identifies mutations in the BRCA1 and BRCA2 genes. These mutations can significantly increase the risk of developing breast and ovarian cancers. BRCA testing involves analysing a DNA sample, typically obtained from a blood sample.

Yes, home sample collection is available for BRCA testing. You can order a sample collection kit online or via telephone call and collect the DNA sample at home before sending it back to the testing facility.

The BRCA testing is used to detect mutations in the BRCA1 and BRCA2 genes, which can significantly increase the risk of breast and ovarian cancers. It helps in guiding treatment decisions, early detection, and preventive strategies.

There is no "normal range" for BRCA testing. The test is qualitative, indicating the presence or absence of specific harmful mutations in the BRCA1 and BRCA2 genes.

Individuals with a family history of breast or ovarian cancer, those who have already been diagnosed with these cancers, and younger women in high-risk populations are eligible for BRCA testing.

Given the high prevalence of BRCA mutations in the Indian population, especially among younger women, BRCA testing is essential for early detection and prevention strategies. It helps guide treatment decisions for those who have already been diagnosed with breast or ovarian cancer and enables genetic counselling for families where BRCA mutations are identified, allowing at-risk relatives to consider preventive measures.

Typically, once you receive your results, there is no need for repeated BRCA testing unless you are part of a research study or if new family members are diagnosed with cancer. However, periodic reevaluation based on new family history or clinical findings may be necessary.

BRCA testing can be done at any time, but it is often recommended for individuals who have a family history of breast or ovarian cancer, especially if they are under 50 years old.

No, fasting is not required for the BRCA testing. The blood sample can be collected at any time.

There are no specific precautions other than following the instructions provided with the sample collection kit for BRCA testing. It is advisable to consult with a healthcare professional or genetic counsellor before and after the test.

BRCA testing includes sequencing and MLPA (Multiplex Ligation-dependent Probe Amplification) to detect point mutations and large deletions or duplications in the BRCA1 and BRCA2 genes.

BRCA testing involves collecting a blood sample, which is then analysed using sequencing and MLPA techniques to detect any mutations in the BRCA1 and BRCA2 genes.

BRCA testing should be done when there is a family history of breast or ovarian cancer, especially if multiple relatives have been diagnosed at a young age. It may also be recommended for individuals who have already been diagnosed with these cancers.

BRCA testing is considered positive when a harmful mutation is detected in either the BRCA1 or BRCA2 gene. This indicates an increased risk of developing breast or ovarian cancer.

BRCA testing requires a blood or saliva sample, collected in a few minutes.

You can usually expect to receive the reports for BRCA testing within 15 days based on the day/time when the sample was collected and processed. However, exact turnaround time may vary depending on the lab and the complexity of the BRCA testing analysis.

BRCA1 and BRCA2 are genes that normally help repair damaged DNA and prevent cells from growing uncontrollably. However, inherited mutations in these genes significantly increase the risk of developing certain cancers, most notably breast and ovarian cancer. Women with BRCA1 or BRCA2 mutations have a 45-72% lifetime risk of developing breast cancer and an 11-44% risk of ovarian cancer, compared to 13% and 1-2%, respectively, in the general female population. Men with these mutations also have an increased risk of breast and prostate cancer. A BRCA1 and BRCA2 test analyzes your DNA to identify pathogenic (harmful) or likely pathogenic variants in these genes. The test requires a blood or saliva sample and can provide valuable information about your cancer risk. If a mutation is found, enhanced screening, preventive medications, or risk-reducing surgeries may be recommended to manage your risk.
BRCA1 and BRCA2 test results are highly accurate, with analytical sensitivity and specificity exceeding 99% for detecting known pathogenic variants. A negative result reduces the likelihood of a BRCA1 or BRCA2 pathogenic variant but does not eliminate the risk of cancer, especially if family history is present. Genetic counselling can help interpret test results in the context of your personal and family history.
While the primary purpose of a BRCA1 and BRCA2 test is assessing breast and ovarian cancer risk, these mutations also increase the risk of other cancers, including prostate cancer in men, pancreatic cancer, and melanoma. However, the BRCA1 and BRCA2 test itself does not screen for these cancers. It identifies inherited mutations that increase your risk. If a mutation is found, your healthcare provider may recommend additional cancer screening.
A BRCA1 and BRCA2 test is a genetic test that analyses your DNA for inherited mutations. It helps predict your risk of developing cancer in the future. Meanwhile, a mammogram is an X-ray imaging test that looks for abnormalities in breast tissue. It can detect cancer at an early stage when treatment is most effective.
Most experts recommend BRCA1 and BRCA2 testing for people with a personal or family history of breast, ovarian, or related cancers. However, you may still choose to have the test based on your preferences and risk factors. Your healthcare provider can help you weigh the pros and cons of testing, including information on the BRCA1 and BRCA2 test price or BRCA1 and BRCA2 test cost.
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