Test catalog
BRCA1 and BRCA2 gene sequencing
Sequencing of the BRCA1 and BRCA2 genes using targeted exome-based analysis, for the investigation of hereditary breast and ovarian cancer.
- Accepted samples
- Peripheral blood (preferred), Buccal swab, Extracted DNA
- Turnaround time and when it starts
- 20 calendar days, after order confirmation
- Medical order
- Required. View requirements and limitations.
Test information
Technical details for BRCA1 and BRCA2 gene sequencing
Method, scope, requirements and limitations
Sequencing of the BRCA1 and BRCA2 genes using targeted exome-based analysis, for the investigation of hereditary breast and ovarian cancer.
- Applications
- Hereditary cancer
- Accepted samples
- Peripheral blood (preferred), Buccal swab, Extracted DNA
- Estimated turnaround time
- 20 calendar days, after order confirmation
- Methodology
- Next-generation sequencing (NGS) of the exome on the MGI platform, with analysis targeted to the requested genes. Variant classification follows ACMG criteria and ClinGen updates.
- Analytical scope
- Evaluable coding regions and splice boundaries of the analyzed genes, with exome coverage: single nucleotide variants (SNVs), small deletions and duplications of up to 20 bp, and CNVs spanning three or more exons.
- Genes analyzed
-
2 genes analyzed.
See full content
BRCA1, BRCA2
- Medical order
- Required
Requirements
Medical request, personal and family history, previous results and clinical data to guide the analysis.
Limitations
The result depends on sample quality, achieved coverage and the method’s limitations. Variants larger than 20 bp and smaller than one exon may be detected with reduced sensitivity, and CNVs of one or two exons are outside the scope. It does not primarily target deep intronic, promoter or regulatory regions. Repeats, rearrangements, methylation, high homology, and low coverage may require another method.
Additional information
The indication must consider personal and family history and, when available, genetic counseling. A negative result does not exclude a genetic condition.
