OvaNext analyzes 25 genes. 24 genes (excluding EPCAM) 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 the following genes: PTEN (c.-1300 to c.-745), MLH1 (c.-337 to c.-194), and MSH2 (c.-318 to c.-65). The inversion of coding exons 1-7 of the MSH2 gene and the BRCA2 Portuguese founder mutation, c.156_157insAlu (also known as 384insAlu) are detected by NGS and confirmed by PCR and agarose gel electrophoresis.
Breast Cancer, Ovarian Cancer, Uterine Cancer
ATM (ATM serine/threonine kinase), BARD1 (BRCA1 Associated RING Domain 1), BRCA1 (Breast cancer 1, early onset), BRCA2 (Breast cancer 2, early onset), CDH1 (Cadherin 1), CHEK2 (Checkpoint kinase 2)
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Next-Generation Sequencing (NGS)