BRCA1 & BRCA2 gene analysis and deletion duplication by MLPA_ONCO

BRCA1 & BRCA2 Gene Analysis and Deletion/Duplication by MLPA_ONCO

BRCA1 & BRCA2 Gene Analysis with MLPA (Multiplex Ligation-dependent Probe Amplification) is an advanced genetic test designed to identify both sequence mutations and large gene deletions or duplications in the BRCA1 and BRCA2 genes. These genes play a crucial role in repairing damaged DNA, and inherited mutations can significantly increase the risk of developing certain cancers.

Why is this test performed?

• Identifies inherited mutations associated with Hereditary Breast and Ovarian Cancer (HBOC) Syndrome
• Detects large deletions and duplications that may be missed by routine sequencing
• Helps assess the risk of breast, ovarian, prostate, pancreatic, and other BRCA-related cancers
• Supports personalized treatment decisions, including eligibility for targeted therapies (PARP inhibitors)
• Assists family members in understanding their inherited cancer risk

Who should consider this test?

• Individuals with a personal or family history of breast or ovarian cancer
• Early-onset breast cancer (before age 50)
• Triple-negative breast cancer
• Male breast cancer
• Multiple family members diagnosed with BRCA-associated cancers
• Individuals with a known familial BRCA mutation

Sample Required

• Peripheral Blood (EDTA)

Test Method

• DNA Sequencing + MLPA (Multiplex Ligation-dependent Probe Amplification)

Benefits

• Comprehensive BRCA1 & BRCA2 mutation analysis
• Detects both small genetic variants and large genomic rearrangements
• Enables early risk assessment and preventive care
• Guides precision oncology and treatment planning
• Supports genetic counseling and family screening

Clinical Applications

• Hereditary breast cancer risk assessment
• Hereditary ovarian cancer evaluation
• Genetic counseling
• Personalized cancer management
• Family cascade screening

Early genetic screening empowers proactive healthcare decisions. Comprehensive BRCA1 & BRCA2 analysis with MLPA provides accurate insights for cancer risk assessment, prevention, and personalized treatment planning.