Hereditary Breast Cancer Genetic Testing Panel | BRCAplus® | Ambry Genetics скачать в хорошем качестве

Hereditary Breast Cancer Genetic Testing Panel | BRCAplus® | Ambry Genetics

Learn more about Ambry's BRCAplus testing at: https://www.ambrygen.com/clinician/ge... BRCAplus is a next generation sequencing (NGS) panel that simultaneously analyzes 8 breast cancer susceptibility genes, all with published management guidelines. Test Description All genes are evaluated by next generation sequencing (NGS) or Sanger sequencing of all coding domains, and well into the flanking 5’ and 3’ ends of all the introns and untranslated regions. In addition, sequencing of the promoter region is performed for PTEN (c.-1300 to c.-745). The BRCA2 Portuguese founder mutation, c.156_157insAlu (also known as 384insAlu) is detected by NGS and confirmed by PCR and agarose gel electrophoresis. A secondary sequencing method is performed for any regions with insufficient read depth coverage for reliable heterozygous variant detection. Reportable small insertions and deletions, potentially homozygous variants, variants in regions complicated by pseudogene interference, and single nucleotide variant calls not satisfying 100x depth of coverage and 40% het ratio thresholds are verified by Sanger sequencing.1 Gene copy number analysis by a targeted microarray identifies gross deletions and duplications in all 6 genes.