BRCA 1 & 2 Deletion and Duplication Detection by MLPA Test
About BRCA 1 & 2 Deletion and Duplication Detection by MLPA Test
| Field | Value |
|---|---|
| Also Known As | BRCA1/BRCA2 Large Genomic Rearrangement Test, BRCA Deletion/Duplication Analysis by MLPA, BRCA Large Rearrangement Analysis |
| Sample Type | Peripheral blood (EDTA tube) |
| Fasting Required | No fasting required |
| Report Time | 15 days |
| Recommended For | Adults (men and women) with a personal or family history of breast, ovarian, prostate, or pancreatic cancer |
| Price | Starting at ₹14,000 |
What is a BRCA 1 & 2 Deletion and Duplication Detection by MLPA Test?
The BRCA 1 & 2 deletion and duplication detection by MLPA test identifies large structural changes (deletions and duplications) in the BRCA1 and BRCA2 genes. These genes help suppress tumour growth, and changes in them are linked to hereditary breast and ovarian cancer syndrome. The test uses a technique called Multiplex Ligation-dependent Probe Amplification (MLPA), which detects copy number variations that standard gene sequencing methods can miss. A small sample of peripheral blood is all that is needed.
What Does a BRCA 1 & 2 Deletion and Duplication Detection by MLPA Test Measure?
The BRCA 1 & 2 deletion and duplication detection by MLPA test procedure analyses the number of copies of each section (exon) of the BRCA1 and BRCA2 genes. The key parameters measured are listed below.
| Parameter | What It Detects |
|---|---|
| BRCA1 copy number variations | Deletions or duplications of exons in the BRCA1 gene |
| BRCA2 copy number variations | Deletions or duplications of single or multiple exons in the BRCA2 gene |
| Large genomic rearrangements (LGRs) | Structural changes across both genes that are not detectable by standard sequencing |
| Dosage Quotient (DQ) | A numerical value used to determine whether a deletion or duplication is present |
Why is a BRCA 1 & 2 Deletion and Duplication Detection by MLPA Test Done?
This test is ordered when there is a clinical or family-based concern about hereditary cancer risk. Below are the situations in which a doctor may recommend it.
Common Symptoms That May Require This Test
There are no symptoms specific to having a BRCA gene change, but certain personal and family circumstances make this test relevant. The following are the most common reasons a doctor may suggest it.
- Personal history of breast cancer, particularly diagnosed before age 50
- Personal history of ovarian cancer
- Multiple close relatives diagnosed with breast, ovarian, prostate, or pancreatic cancer
- A male relative diagnosed with breast cancer
- Previous BRCA sequencing that returned a negative result, despite strong clinical suspicion
- Ashkenazi (Eastern European) Jewish ancestry, which is associated with higher BRCA mutation rates
Conditions This Test Can Help Detect
This test helps identify inherited gene changes associated with the following conditions and cancer risks.
- Hereditary breast cancer (BRCA1 and BRCA2 changes account for roughly 20 to 25% of hereditary breast cancers)
- Hereditary ovarian cancer (mutations in these genes account for approximately 15% of ovarian cancers)
- Elevated prostate cancer risk in men carrying BRCA2 changes
- Increased pancreatic cancer risk, particularly in BRCA2 carriers
How to Prepare and What to Expect
No significant preparation is needed for this test. Here is what you should know before your appointment.
Do You Need to Fast?
No, fasting is not required. This is a blood test that can be done at any time of the day. You may eat and drink normally before your appointment.
Practical Tips Before Your Test
The following steps will help ensure your visit goes smoothly and your sample is suitable for testing.
- Bring a detailed clinical history report, including your symptoms, previous test results, and family history, as this is required for the test
- Speak with a genetic counsellor before testing to understand what the results may mean for you and your family
- Note the cancer types and ages of diagnosis for affected relatives, as this information supports accurate interpretation
- Inform the laboratory if you have had a bone marrow transplant, as this may affect the DNA results
- Stay well hydrated before your appointment to make the blood draw easier
- Disclose all current medications to your doctor before testing
Step-by-Step Procedure
The sample collection for the BRCA 1 & 2 deletion and duplication detection by MLPA test follows these steps.
- You will be asked to review and sign a consent form before the test begins.
- A trained phlebotomist will clean the inside of your elbow and draw 2 ml of blood into a lavender-top EDTA tube.
- The sample is stored at 2 to 8 degrees Celsius and transported to the laboratory.
- In the laboratory, DNA is extracted from the white blood cells in your sample.
- The MLPA technique is applied, using specific probe mixes and a genetic analyser to examine each exon of BRCA1 and BRCA2.
- Results are analysed using specialist software, and a report is prepared, typically within 15 days.
Factors That Can Affect Accuracy
The following factors may influence the reliability of this test.
- Poor DNA quality due to improper sample handling or storage
- A previous bone marrow transplant (the DNA detected may belong to the donor)
- Small copy number changes involving only one or two exons may not always be detected
- This test does not detect point mutations or frameshift mutations; a separate sequencing test is needed for those
- Variants in regulatory or deep intronic regions of the gene are outside the scope of this analysis
Understanding Your BRCA 1 & 2 Deletion and Duplication Detection by MLPA Test Results
Results are reported as "No deletion or duplication detected," "Deletion detected," or "Duplication detected." A doctor or genetic counsellor will explain what the result means for you personally.
| Result | Dosage Quotient (DQ) | Interpretation |
|---|---|---|
| Normal | 0.75 to 1.25 | No large genomic rearrangement detected |
| Deletion detected | Below 0.75 | Suggests loss of one copy of a gene segment (heterozygous deletion) |
| Duplication detected | Above 1.25 | Suggests an extra copy of a gene segment is present |
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.
How to Maintain Healthy Levels
Because this is a genetic test, the result reflects your inherited DNA and does not change with lifestyle choices. However, the following general wellness habits are beneficial regardless of your result.
- Maintain a balanced diet, regular physical activity, and limited alcohol intake to support overall health
- Attend recommended cancer screening appointments as advised by your doctor
- Inform close family members of your result so they can consider discussing cascade testing with their own doctors
Lupin Diagnostics BRCA 1 & 2 Deletion and Duplication Detection by MLPA Test Price
The BRCA 1 & 2 deletion and duplication detection by MLPA test is priced starting at ₹14,000 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 | 14000 |
| CHENNAI | 14000 |
| HYDERABAD | 14000 |
| KOLKATA | 14000 |
| NAVI MUMBAI | 14000 |
| PUNE | 14000 |
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 BRCA 1 & 2 deletion and duplication detection by MLPA test online.
- Select the 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
Standard sequencing identifies point mutations (small spelling errors) in the BRCA genes. The BRCA 1 & 2 deletion and duplication detection by MLPA test identifies larger structural changes, such as missing or extra copies of gene sections, that sequencing methods typically miss. The two approaches complement each other and together provide a more complete picture of BRCA gene changes.
This test is suitable for individuals who have had a negative BRCA sequencing result but still have a strong personal or family history of BRCA-related cancers. It is also recommended for relatives of someone already known to carry a BRCA deletion or duplication.
No fasting is required. The BRCA 1 & 2 deletion and duplication detection by MLPA test only needs a small blood sample, and you can eat and drink as usual before your appointment.
Results are typically available within 15 days of sample collection. In some cases, if a positive finding requires confirmatory testing using an alternative method, additional time may be needed.
A positive result means a deletion or duplication has been found in your BRCA1 or BRCA2 gene. This indicates an increased risk of developing certain cancers during your lifetime. It does not mean you have cancer or will definitely develop it. A genetic counsellor can help you understand what steps to take next.
Yes. Men can carry BRCA gene changes and face elevated risks of breast, prostate, and pancreatic cancers as a result. The BRCA 1 & 2 deletion and duplication detection by MLPA test costs and procedures are the same for men and women.
Yes. Speaking with a genetic counsellor before testing is strongly advisable. Counselling helps you understand the purpose of the test, what a positive or negative result means for you, and the potential implications for other members of your family.
BRCA 1 & 2 Deletion and Duplication Detection by MLPA Test
