BRCA1 & BRCA2 DELETION/DUPLICATION ANALYSIS in Kurla-east, Mumbai

BRCA1 and BRCA2 Deletion/Duplication Analysis: Price, Purpose, Range & Reports

Test Overview

The BRCA1 and BRCA2 Deletion/Duplication Analysis is a specialised genetic test used to identify large-scale structural changes, such as missing sections (deletions) or repeated sections (duplications), within the BRCA1 and BRCA2 genes. These genes are crucial tumour suppressors, and mutations within them significantly increase the lifetime risk of developing breast, ovarian, prostate, and pancreatic cancers.

While standard sequencing tests look for single-letter changes (point mutations), this analysis is essential because large deletions or duplications can also prevent the genes from working correctly. If you are searching for the BRCA1/BRCA2 deletion/duplication analysis price or a reliable lab near me, Apollo 24|7 offers access to specialised genetic testing services with secure and comprehensive report delivery.

What is the BRCA1 and BRCA2 Deletion/Duplication Analysis Test?

The BRCA1 and BRCA2 Deletion/Duplication Analysis is a molecular diagnostic test that examines the entire length of the BRCA1 and BRCA2 genes to detect large genomic rearrangements. These rearrangements, which can span one or more exons (coding regions) or even the entire gene, are not detectable by traditional sequencing methods.

This analysis is typically performed using advanced techniques such as Multiplex Ligation-dependent Probe Amplification (MLPA) or large-scale microarray comparative genomic hybridisation (aCGH). The purpose is to ensure that no significant structural variant is missed, providing a complete picture of an individual's inherited risk profile, particularly for those with a strong personal or family history of related cancers.

What is the BRCA1 and BRCA2 Deletion/Duplication Analysis Price?

The cost of this test is higher than standard lab work, reflecting its complexity as a specialised genetic assay that requires advanced molecular biology techniques and expert genetic counselling.

Factors Affecting the Test Cost

The final price is influenced by these essential quality and service factors:

• High-Cost Technology: The use of sophisticated molecular techniques like MLPA or next-generation sequencing platforms for CNV (Copy Number Variation) detection, which are necessary to scan the entire gene structure.
• Expert Interpretation: The fee covers analysis and interpretation by certified geneticists and molecular biologists, who must correlate the detected variant with pathogenicity and clinical risk.
• Location: Prices may differ slightly between cities due to regional operating costs and logistics.
• Scope of Testing: The price can vary based on whether the test is performed alone or as part of a larger genetic panel (e.g., a multi-gene panel for hereditary cancer risk).

To find the most accurate and current BRCA1 and BRCA2 Deletion/Duplication Analysis price near me, please check the Apollo 24|7 app or website for real-time pricing specific to your location.

What is the Purpose of the BRCA1 and BRCA2 Deletion/Duplication Analysis?

The primary purpose of this analysis is to achieve a comprehensive assessment of inherited cancer risk, ensuring critical, large-scale genetic defects are identified.

• Comprehensive Risk Assessment: To complement standard gene sequencing by detecting large genomic rearrangements (deletions and duplications) that sequencing misses. These variants account for a significant percentage of all pathogenic BRCA mutations.
• Guiding Clinical Management: A positive result informs preventative measures, such as enhanced surveillance (e.g., more frequent MRIs), prophylactic surgery (e.g., mastectomy or oophorectomy), and targeted therapeutic decisions (e.g., use of PARP inhibitors).
• Family Screening: To identify the specific familial mutation, allowing other at-risk relatives to undergo faster, targeted testing.
• Resolving Inconclusive Sequencing: Used when standard sequencing is negative but a strong family history highly suggests an inherited predisposition.

Who Should Get the BRCA1 and BRCA2 Deletion/Duplication Analysis Done?

This analysis is generally recommended as part of comprehensive BRCA testing for individuals who meet specific criteria for hereditary cancer risk.

You may be advised to take this test if:

• You have a strong personal or family history of early-onset breast cancer (diagnosed before age 50).
• You have a personal or family history of ovarian, pancreatic, or high-risk prostate cancer.
• You are of Ashkenazi Jewish descent, as certain founder mutations in BRCA1 and BRCA2 are common in this population.
• You have already undergone standard sequencing of BRCA1 and BRCA2 with negative results, but the family history is still highly suspicious for a hereditary cancer syndrome.
• You have been diagnosed with Triple-Negative Breast Cancer (TNBC).

Components of BRCA1 and BRCA2 Deletion/Duplication Analysis

This analysis focuses entirely on detecting structural integrity flaws in the two tumour suppressor genes.

Understanding a BRCA1 and BRCA2 Deletion/Duplication Analysis Report

The report is typically complex, providing a definitive statement regarding the presence or absence of large genomic rearrangements. The report is qualitative and binary in its findings, though the underlying data is quantitative. It must be interpreted in the context of genetic counselling. The reporting formats and reference ranges may vary slightly between laboratories, depending on their protocols, equipment, and regional guidelines. Always consult your healthcare provider and a genetic counsellor for interpretation.

Interpretation Note: A Negative result does not guarantee the absence of cancer risk, as mutations in other genes or smaller, undetectable changes may exist. A Positive result is life-altering and requires proactive medical management.

Preparation and Procedure for the BRCA1 and BRCA2 Deletion/Duplication Analysis

The test is typically performed on a blood sample, but sometimes saliva or cheek swab samples are used, depending on the lab's protocol.

How Is the BRCA1 and BRCA2 Deletion/Duplication Analysis Test Performed?

A venous blood sample is collected by a trained phlebotomist. In the molecular laboratory, the DNA is extracted from the white blood cells. The extracted DNA is then subjected to a specialised assay (like MLPA), which uses fluorescent probes designed to bind to multiple sections of the BRCA1 and BRCA2 genes. By measuring the intensity of the fluorescent signal at each gene section, the lab can determine if an entire section is missing (deletion, lower signal) or duplicated (duplication, higher signal) compared to a control sample.

Is Fasting Needed Before the Test?

No, fasting is not required for this test.

Can Medications Affect the Test Results?

No, medications or lifestyle factors do not affect the DNA sequence, which is inherited. However, a recent blood transfusion may temporarily interfere with the assay and should be disclosed before the blood draw.

What Is the Best Time of Day to Take the Test?

The sample collection can be done at any time of day.

How Frequently Is the Test Needed?

This test is typically performed only once in a lifetime, as the result provides a permanent genetic status. Repeat testing is usually unnecessary unless new, more comprehensive technology becomes available.

Booking the Component Tests Online & Checking Reports

Apollo 24|7 simplifies the process of scheduling this specialised genetic test and accessing your results.

A. What are the Steps to Schedule the Test on Apollo 24|7?

1. Visit the Apollo 24|7 website or mobile application and search for BRCA1 and BRCA2 Deletion/Duplication Analysis.
2. Review the latest test price for your city and click the ‘Book Now’ button.
3. Select your preferred date and a convenient time slot for the blood sample collection.
4. Complete the secure online payment. You will receive immediate confirmation and preparation details.

B. How Do I Access My Test Results Online on Apollo 24|7?

1. Log in to your Apollo 24|7 account using your registered phone number or email ID.
2. Go to the ‘Health Records’ or ‘My Reports’ section on your dashboard.
3. Click on the test name to view your detailed, NABL-certified genetic report, which will clearly state the detected variants (if any).
4. You can easily view the report online or download it in PDF format to share instantly with your physician and genetic counsellor.

Conclusion

The BRCA1 and BRCA2 Deletion/Duplication Analysis is a critical component of complete hereditary cancer risk assessment. By specifically targeting large structural variants missed by conventional sequencing, it ensures that high-risk individuals receive the most accurate diagnosis possible. A definitive result (positive or negative) empowers patients and their healthcare teams to implement crucial preventative and management strategies, significantly reducing the impact of these inherited cancer risks on their lives and their families.