|BRCA1 & BRCA2 Panel-NGS
BRCA1 & BRCA2
||BRCA1 and BRCA2 mutations are associated with a significantly increased risk for breast, ovarian and other cancers. Approximately 25-50% of hereditary breast cancer cases have mutations in the BRCA1/2 genes. In general, this test is used when a patient's medical and family history findings strongly suggest that there is an underlying genetic etiology of breast cancer.
BRCA1 and BRCA2 gene sequencing and deletion/duplication analysis are performed via next generation sequencing.
All coding exons of these two genes and at least 20 base pairs of flanking intronic sequences are analyzed. All exonic variants and intronic variants within 20 bp of the exon/intron boundary will be reported. The NGS read depth is examined for evidence of large deletion/duplication mutations at the targeted genes. If detected, evidence of copy number change will be presented in the results and interpretation. For autosomal recessive conditions in which one mutation or at least one VUS is identified, read depth is specifically assessed.
While all regions are evaluated by NGS for possible copy number changes, variations in sample quality or the presence of pseudogenes or other homologous sequences may result in a signal to noise ratio that precludes analysis of some regions. Thus, NGS will not detect all copy number changes. A normal NGS analysis does not exclude the possibility of copy number changes of a gene or portion of a gene. Targeted Array CGH analysis is available when copy number changes are still suspected. For targeted oligonucleotide array CGH analysis: BMGL Test (#2001) for a single locus MitoMetŪPlus aCGH Analysis and Test (#2003) for multiple loci MitoMetŪPlus aCGH Analysis (Targeted Analysis) may be warranted if intragenic deletion/duplication mutations are suspected.
||Targeted Capture followed by Massively Parallel Sequencing
||BRCA1 & BRCA2
||Next Generation Sequencing