BRCA1 & BRCA2 gene analysis and deletion duplication by MLPA With MCC

BRCA1 & BRCA2 Gene Analysis and Deletion Duplication by MLPA with MCC

BRCA1 & BRCA2 Gene Analysis and Deletion Duplication by MLPA with MCC is an advanced genetic test designed to detect large deletions and duplications (copy number variations) in the BRCA1 and BRCA2 genes using Multiplex Ligation-dependent Probe Amplification (MLPA) technology. The test is performed with MCC (Medical Clinical Correlation) to provide clinically relevant interpretation, helping assess hereditary breast and ovarian cancer risk.

Test Purpose

• Detect large deletions and duplications in BRCA1 and BRCA2 genes.
• Identify hereditary cancer susceptibility.
• Support diagnosis of Hereditary Breast and Ovarian Cancer (HBOC) syndrome.
• Assist in personalized treatment planning and genetic counseling.
• Enable risk assessment for family members.

Who Should Consider This Test?

• Individuals with a personal or family history of breast, ovarian, pancreatic, or prostate cancer.
• Patients diagnosed with breast cancer at a young age.
• Families with multiple generations affected by BRCA-related cancers.
• Individuals with known BRCA mutations in close relatives.
• Patients advised by an oncologist or genetic counselor.

Sample Required

• Peripheral Blood (EDTA)

Technology Used

• MLPA (Multiplex Ligation-dependent Probe Amplification)
• Medical Clinical Correlation (MCC)

Benefits

• Detects large gene rearrangements missed by routine sequencing.
• High sensitivity and accuracy.
• Supports early diagnosis and preventive healthcare.
• Helps guide targeted therapies, including PARP inhibitors where appropriate.
• Provides valuable information for family screening and preventive management.

Turnaround Time

Approximately 2–4 weeks (may vary depending on laboratory workflow).

Interpretation

Results should always be interpreted by a qualified clinical geneticist or healthcare professional in conjunction with the patient's clinical history, family history, and other genetic findings.

Note: This test identifies large deletions and duplications in the BRCA1 and BRCA2 genes. It may be recommended alongside sequencing analysis for comprehensive evaluation of hereditary cancer risk.