Molecular Genetic BRCA1 & BRCA2 with HRR Genes For Somatic Mutation Testing - NGS
Test Code
MOG39
Also Known As
No data available
Test Parameters Included
No data available
Department
MOLECULAR GENETICS
Methodology
NGS (Next-Generation Sequencing)
This advanced molecular genetic test utilizes Next-Generation Sequencing (NGS) to comprehensively analyze the coding regions and critical splice sites of BRCA1, BRCA2, and other key Homologous Recombination Repair (HRR) pathway genes. The focus is on detecting somatic mutations, which are acquired alterations in the tumor cells, rather than inherited (germline) mutations. NGS is the ideal methodology for this purpose due to its ability to:
* High Sensitivity and Specificity: Accurately detect rare and low-frequency somatic variants within the heterogeneous tumor tissue.
* Comprehensive Coverage: Sequence all relevant exons and splice sites of multiple genes simultaneously, ensuring no critical mutation is missed.
* Identification of Various Mutation Types: Detect single nucleotide variants (SNVs), small insertions and deletions (indels), and often infer larger copy number variations (CNVs) from sequencing data (though dedicated CNV methods like MLPA might be complementary for large genomic rearrangements).
* Throughput: Efficiently process multiple genes in a single assay, offering a comprehensive genetic profile.
Sample Required
FFPE TISSUE > 10% CANCER
(Formalin-Fixed Paraffin-Embedded (FFPE) tumor tissue is the required sample type. It is crucial that the tissue block or scrolls submitted contain greater than 10% cancer cells to ensure sufficient tumor DNA for accurate analysis. Ideally, a matched normal sample (e.g., peripheral blood in EDTA) is also provided for comparison to distinguish somatic from incidental germline findings, though some labs can filter out common germline variants bioinformatically.)
Preparation
Preparation for this test primarily involves proper sample collection and handling of the FFPE tissue. * Sample Type: Formalin-Fixed Paraffin-Embedded (FFPE) tumor tissue block or scrolls. This is the... Read more
Schedule Report
30 Days
Emergency Report
Yes
Frequently Asked Questions
No data available
Test Description
- High-end laboratory & medical equipment.
- Outstanding doctor team.
- Personalized care & high-quality service.
- Tailormade health screening packages.