BRCA 1 and 2 Profile Complete Gene Sequencing Test
About BRCA 1 and 2 Profile Complete Gene Sequencing Test
| Field | Value |
|---|---|
| Also Known As | BRCA gene test, BRCA1/BRCA2 full gene sequencing, Hereditary Breast and Ovarian Cancer (HBOC) gene panel, Breast cancer susceptibility gene testing |
| Sample Type | Whole blood (EDTA tube) |
| Fasting Required | No fasting required for a blood test |
| Report Time | 16 days |
| Recommended For | Adults (male and female) with a personal or family history of breast, ovarian, pancreatic, or prostate cancer; individuals of Ashkenazi Jewish descent |
| Price | Starting at ₹9,900 |
What is a BRCA 1 and 2 Profile Complete Gene Sequencing Test?
The BRCA 1 and 2 profile complete gene sequencing test analyses two genes, BRCA1 and BRCA2, to detect inherited changes that may raise a person's risk of developing certain cancers. It is also known as the BRCA gene test or BRCA1/BRCA2 full gene sequencing. Doctors typically recommend this test for individuals with a personal or family history of breast, ovarian, or related cancers. A small blood sample is collected from a vein in the arm.
What Does a BRCA 1 and 2 Profile Complete Gene Sequencing Test Measure?
The BRCA 1 and 2 profile complete gene sequencing test examines two tumour suppressor genes using next-generation sequencing (NGS) technology. These genes normally help prevent uncontrolled cell growth. The test looks for the following types of changes:
| Component | What It Detects |
|---|---|
| BRCA1 gene | Inherited changes in the gene that provides instructions for making proteins that help prevent tumour development |
| BRCA2 gene | Inherited changes in the gene responsible for producing proteins that repair damaged DNA and slow abnormal cell division |
| Single nucleotide variants (SNVs) | Small, specific changes in the gene's DNA sequence that may disrupt normal function |
| Copy number variants (CNVs) | Large deletions or duplications within the BRCA genes may increase cancer risk |
Why is a BRCA 1 and 2 Profile Complete Gene Sequencing Test Done?
This test is ordered when a person's personal or family history suggests they may carry an inherited gene change that raises cancer risk. It is not triggered by a specific physical symptom but rather by clinical and family history indicators.
Common Symptoms That May Require This Test
This test is not based on symptoms in the traditional sense. Instead, the following clinical factors typically lead a doctor to recommend it:
- Breast cancer diagnosed at a young age (under 50)
- Multiple family members diagnosed with breast or ovarian cancer
- Personal or family history of ovarian cancer
- Male breast cancer in the family
- Triple-negative breast cancer diagnosed before age 60
- Family history of pancreatic or prostate cancer linked to BRCA mutations
Conditions This Test Can Help Detect
The following conditions and risk states can be identified through this test:
- Hereditary Breast and Ovarian Cancer syndrome (HBOC)
- Early-onset breast cancer predisposition
- Familial male breast cancer risk
- Increased inherited risk of fallopian tube, pancreatic, and prostate cancers
How to Prepare and What to Expect
Preparation for the BRCA 1 and 2 profile complete gene sequencing test is straightforward. The steps below will help you feel confident before your visit.
Do You Need to Fast?
No fasting is required before a blood-based BRCA gene test. You may eat and drink as normal before your appointment.
Practical Tips Before Your Test
The following tips will help ensure the process goes smoothly:
- Bring a detailed clinical history report, including your symptoms, previous test results, and family history, as this is required for the test
- Consider speaking with a genetic counsellor before testing; they can help assess your personal risk and explain what results may mean for you and your family
- Carry any histopathological reports, doctor's prescriptions, or relevant prior test results to the collection centre
- Drink adequate water before the visit, so your veins are easy to locate
- Inform the phlebotomist of any recent blood transfusions or bone marrow transplants, as these may affect the test
Step-by-Step Procedure
Here is what to expect during sample collection and processing:
- Arrive at your nearest Lupin Diagnostics centre with your clinical history and any relevant documents.
- A trained phlebotomist will clean a small area on your arm and insert a fine needle into a vein.
- A small amount of blood (approximately 2 ml) is drawn into a lavender-top EDTA tube.
- The sample is labelled, stored under refrigeration, and dispatched to the laboratory.
- In the laboratory, DNA is extracted from your blood, and both BRCA1 and BRCA2 genes are analysed using next-generation sequencing (NGS) technology.
- The full analysis, covering gene-wide variants and copy number changes, is completed, and your report is prepared within 16 days.
Factors That Can Affect Accuracy
The following factors may affect the reliability of your results:
- Recent blood transfusions, which may introduce donor DNA into the sample
- Previous bone marrow transplantation, which can replace your blood cells with donor-derived cells
- Sample mislabelling or handling errors during collection or transport
- Technical issues related to pseudogene interference during sequencing
- Inaccurate representation of family relationships when assessing hereditary risk
Understanding Your BRCA 1 and 2 Profile Complete Gene Sequencing Test Results
Results from the BRCA 1 and 2 profile complete gene sequencing test are qualitative rather than numerical. Your doctor or genetic counsellor will review your result alongside your personal and family history.
| Result Category | Interpretation |
|---|---|
| Positive (Pathogenic or Likely Pathogenic) | A harmful change in BRCA1 or BRCA2 is present; indicates an increased inherited risk of certain cancers |
| Negative (No Mutation Detected) | No harmful change was found in the BRCA genes tested; cancer risk is similar to that of the general population |
| Variant of Uncertain Significance (VUS) | A gene change was found, but current evidence is insufficient to confirm whether it raises cancer risk |
These ranges are general guidelines. Your doctor will interpret your results based on your age, health history, and other factors. Always consult a qualified healthcare professional for personalised medical advice.
Results During Special Conditions
Certain medical situations can affect how results are obtained or interpreted:
- Patients who have undergone a bone marrow transplant cannot be tested using standard blood-based methods, as their blood cells may carry donor DNA. A tissue-based alternative may be needed in such cases.
- Recent blood transfusions may also affect test accuracy. Inform your doctor and the collection centre about any such history before the sample is collected.
How to Maintain Healthy Levels
Because this is a genetic test, the result itself cannot be changed. However, the following steps support informed health management:
- Follow the cancer screening schedule recommended by your doctor, such as regular mammograms and MRI scans if advised
- If your result is positive, speak with a genetic counsellor about risk-management options
- Inform close blood relatives of a positive result so they can consider getting tested themselves
Lupin Diagnostics BRCA 1 and 2 Profile Complete Gene Sequencing Test Price
The BRCA 1 and 2 profile complete gene sequencing test starts at ₹9,900 at Lupin Diagnostics. This test requires a visit to a Lupin Diagnostics centre; home collection is not available for this test.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 9900 |
| CHENNAI | 9900 |
| HYDERABAD | 9900 |
| KOLKATA | 9900 |
| NAVI MUMBAI | 9900 |
| PUNE | 9900 |
Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
Follow these steps to book your test:
- Select the BRCA 1 and 2 profile complete gene sequencing test on the Lupin Diagnostics website.
- Choose your city and preferred centre location.
- Visit the centre at your scheduled time for sample collection.
- Receive your report via email or WhatsApp within the stipulated turnaround time.
Frequently Asked Questions
This test is recommended for individuals with a strong personal or family history of breast, ovarian, pancreatic, or prostate cancer. It is also advised for those diagnosed with breast cancer at a young age, those with multiple affected relatives, and people of Ashkenazi Jewish descent. A doctor or genetic counsellor can help determine whether testing is appropriate for you.
No. A positive result indicates an increased inherited risk, not a certainty. Many people who carry a harmful BRCA1 or BRCA2 gene change never develop cancer. Your doctor will discuss what a positive result means for your individual situation.
A VUS means the test detected a gene change, but researchers do not yet have enough evidence to confirm whether it raises cancer risk. These findings are relatively common. As scientific understanding grows, many VUS results are reclassified over time as either harmful or harmless.
Yes. Men can inherit harmful changes in BRCA1 or BRCA2 and face increased risk of breast, prostate, and pancreatic cancers as a result. If a man has a relevant family history or a known BRCA mutation in the family, testing is worth discussing with a doctor.
The BRCA 1 and 2 profile complete gene sequencing test report is typically ready within 16 days of the sample being received at the laboratory. This allows time for a thorough NGS analysis of both genes.
Not necessarily. A negative result means no harmful BRCA gene change was found. However, it does not eliminate all cancer risk. People with a negative result still carry the same general population risk for cancer and should continue with routine screening as advised by their doctor.
Genetic counselling before and after the BRCA 1 and 2 profile complete gene sequencing test is strongly encouraged. A counsellor helps assess your risk level, explains what different results mean, and supports you in understanding how findings may affect you and your family members.
BRCA 1 and 2 Profile Complete Gene Sequencing Test
