BRCA – MLPA

What is BRCA – MLPA test?

BRCA – MLPA stands for BRCA Multiplex Ligation-dependent Probe Amplification. It is a genetic test used to detect large deletions or duplications in the BRCA1 and BRCA2 genes. Unlike sequencing that identifies small mutations, MLPA focuses on larger structural changes that might be missed by other methods. The test is performed on blood sample.

Why consider BRCA – MLPA test?

• To detect large genetic rearrangements (deletions or duplications) in BRCA1 and BRCA2 genes.
• Important for a comprehensive BRCA analysis, especially if previous sequencing tests were negative but suspicion remains high.
• Helps in assessing hereditary breast and ovarian cancer risk.
• Identifies mutations that can guide risk management and treatment decisions.

Who should get tested for BRCA – MLPA test?

Individuals with a personal or family history of breast and/or ovarian cancer, especially when previous BRCA sequencing results were negative but clinical suspicion persists and there is a known large rearrangement in the family. Patients being evaluated for hereditary cancer syndromes. Those considering genetic counseling and testing to clarify cancer risk.

More Information

OTHER NAMES: BRCA Large Rearrangement Analysis, BRCA Deletion/Duplication Test, MLPA for BRCA1/BRCA2 Genes

BRCA – MLPA detects large genetic rearrangements in BRCA1 and BRCA2 genes, which are linked to hereditary breast and ovarian cancer syndrome. Mutations in these genes significantly increase the risk of developing breast, ovarian, prostate, and pancreatic cancers. Early identification of these mutations helps in cancer prevention, early detection, and personalized treatment strategies. The test is crucial for families with a strong history of these cancers where standard mutation screening may miss large gene alterations.