SB HerGene Assay
Detect both inherited and somatic mutations in BRCA1/2, associated with breast, ovarian, and other cancers.
Highlights:
Inherited mutations in BRCA1/2 are associated with an increased risk of certain cancers, including breast and ovarian cancer. Somatic mutations in BRCA1/2 are common in several cancer types.
Ion AmpliSeq™ multiplex PCR technology combined with I on Torrent™ next-generation sequencing (NGS) was used to develop the Ion Torrent™ Oncomine™ BRCA Genes included on the SBL BRCA test Panel are evaluated by next generation sequencing (NGS) of the coding exons and well into the flanking 5’ and 3’ ends of the introns and untranslated regions.
Research Assay, which detects variants within the entire coding sequence and flanking intronic regions of BRCA1/2. The recommended input of DNA is 20 ng, which may be extracted from blood, cell lines, or formalin-fixed, paraffin-embedded (FFPE) samples. Single-nucleotide variants (SNVs), multi-nucleotide variants (MNVs), short insertions or deletions (indels), and whole-exon, multiple-exon, or entire-gene aberrations are detected with high sensitivity and specificity. Automated informatics analysis within Ion Reporter™ Software provides a full set of basic variant annotations, including the ability to cross-reference the ClinVar database.