BRCA1 & BRCA2deletion/duplication analysis,MLPA

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Department: Special Chemistry

Large deletions or duplications in the BRCA1 and BRCA2 genes. These genes play a crucial role in DNA repair, and mutations can significantly increase hereditary risks for breast, ovarian, and other cancers not caught by standard sequencing, which is crucial for high-risk individuals.

MLPA (Multiplex Ligation-dependent Probe Amplification) is a specialized technique that accurately detects large genetic alterations.

This test is recommended to:

• Detect large deletions or duplications in BRCA1 and BRCA2 genes
• Assess hereditary cancer risk
• Support early diagnosis and preventive care planning
• Guide genetic counseling and family screening
• Assist in personalized treatment decisions

BRCA1 & BRCA2deletion/duplication analysis,MLPA Test Purpose

The BRCA1 & BRCA2 Deletion/Duplication Analysis (MLPA) Test is a specialized genetic test that detects large deletions and duplications in the BRCA1 and BRCA2 genes using Multiplex Ligation-dependent Probe Amplification (MLPA) technology. These genes play a critical role in repairing damaged DNA and maintaining normal cell growth. Large genetic changes in these genes can significantly increase the risk of developing hereditary breast cancer, ovarian cancer, prostate cancer, pancreatic cancer, and certain other cancers.

Healthcare providers commonly recommend this test for individuals with a strong personal or family history of breast, ovarian, pancreatic, or prostate cancer, especially when hereditary cancer syndrome is suspected. While standard DNA sequencing identifies small genetic variants, it may not detect large deletions or duplications. Therefore, MLPA analysis complements sequencing by identifying these larger genetic alterations, improving the overall detection of disease-causing BRCA mutations.

Furthermore, the BRCA1 & BRCA2 Deletion/Duplication Analysis helps assess inherited cancer risk, supports decisions regarding genetic counseling, guides cancer screening strategies, and assists in planning preventive measures or targeted treatments. It may also provide valuable information for family members who could be at risk of carrying the same inherited genetic change.

The test is often performed alongside BRCA1/BRCA2 gene sequencing, comprehensive hereditary cancer gene panels, and genetic counseling to provide a complete evaluation of inherited cancer susceptibility.

BRCA1 & BRCA2deletion/duplication analysis,MLPA Test is Recommended for Individuals:

• Individuals with a strong family history of breast or ovarian cancer.
• People diagnosed with breast cancer at a young age.
• Individuals with multiple close relatives affected by breast, ovarian, pancreatic, or prostate cancer.
• Men diagnosed with breast cancer.
• Individuals with a known BRCA mutation in the family.
• Patients requiring comprehensive hereditary cancer genetic testing.
• Individuals considering preventive cancer screening or risk-reducing strategies.
• Patients referred for genetic counseling by their healthcare provider.

FAQs

1. What is the BRCA1 & BRCA2 Deletion/Duplication Analysis (MLPA) Test used for?

This test detects large deletions and duplications in the BRCA1 and BRCA2 genes that may increase the risk of hereditary breast, ovarian, pancreatic, and prostate cancers. It complements standard BRCA gene sequencing for a more comprehensive genetic evaluation.

2. Do I need to fast before the BRCA1 & BRCA2 MLPA Test?

No. Fasting is generally not required for this genetic blood test. However, your healthcare provider may recommend genetic counseling before and after testing to help you understand the results and their implications.

3. What does a positive BRCA1 or BRCA2 MLPA result mean?

A positive result indicates the presence of a large deletion or duplication in the BRCA1 or BRCA2 gene that may significantly increase the risk of certain hereditary cancers. It does not mean that cancer is currently present, but it indicates a higher lifetime risk. Your healthcare provider or genetic counselor will explain the findings and discuss appropriate screening, preventive measures, treatment options, and whether family members should also consider genetic testing.