Invitae BRCA1 and BRCA2 Panel
Use
The Invitae BRCA1 and BRCA2 Panel analyzes the BRCA1 and BRCA2 genes, which are associated with adult-onset hereditary breast and ovarian cancer syndrome (HBOC). This genetic testing may help confirm a clinical diagnosis, predict disease prognosis and progression, facilitate early detection of symptoms, inform family planning and genetic counseling, or promote enrollment in clinical trials. It is specifically designed for heritable germline mutations and is not suitable for detecting somatic mutations in tumor tissue.
Special Instructions
Turnaround time for this test is 10–21 calendar days, with an average of 14 days. The preferred specimen is 3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA), but saliva, buccal swab, and gDNA are also accepted.
Limitations
The assay includes full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS), covering clinically important regions of each gene, including coding exons and certain intronic sequences. Sensitivity achieves >99% for SNVs, indels <15bp, and exon-level copy number events, though sensitivity may be reduced for longer indels. Structural rearrangements, phasing, and certain non-coding regions might not be detected. Moreover, sequencing analysis might not fully cover variations within certain genomic architectures or additional non-coding regions unless specified.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)