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Company:
Sophia GeneticsType:
CE Marked
Related tests:
SOPHiA DDM HRD Solution is a sample-to-report next generation sequencing (NGS)-based application, that combines an expertly designed wet-lab kit with access to the analytical capabilities and interpretation-support functionalities of the SOPHiA DDM Platform. These solutions empower in-house expertise by providing high analytical performance and streamlined bioinformatics workflows with several intuitive features that accelerate variant assessment, interpretation, and reporting. SOPHiA DDM HRD Solution leverages target capture technology to isolate somatic and germline mutations in 28 HRR genes (including BRCA1 and BRCA2). This allows the user to identify pathogenic variants, such as SNPs and Indels, that could be potential causes of homologous recombination deficiency (HRD). Combining the detections of HRR gene mutation and the Genomic Integrity Index in a single assay provides an accurate and sensitive method for determining HRD status of a tumor sample.
Cancer:
Ovarian Cancer
Gene:
AKT1 (V-akt murine thymoma viral oncogene homolog 1), ATM (ATM serine/threonine kinase), BARD1 (BRCA1 Associated RING Domain 1), BRCA1 (Breast cancer 1, early onset), BRCA2 (Breast cancer 2, early onset), BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1)
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AKT1 (V-akt murine thymoma viral oncogene homolog 1), ATM (ATM serine/threonine kinase), BARD1 (BRCA1 Associated RING Domain 1), BRCA1 (Breast cancer 1, early onset), BRCA2 (Breast cancer 2, early onset), BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1), CCNE1 (Cyclin E1), CDK12 (Cyclin dependent kinase 12), CHEK1 (Checkpoint kinase 1), CHEK2 (Checkpoint kinase 2), ER (Estrogen receptor), FANCA (FA Complementation Group A), FANCD2 (FA Complementation Group D2), FANCL (FA Complementation Group L), FGFR1 (Fibroblast growth factor receptor 1), FGFR2 (Fibroblast growth factor receptor 2), FGFR3 (Fibroblast growth factor receptor 3), MRE11A (MRE11 homolog, double strand break repair nuclease), NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)), PALB2 (Partner and localizer of BRCA2), PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha), PPP2R2A (Protein Phosphatase 2, Regulatory Subunit B, Alpha), PTEN (Phosphatase and tensin homolog), RAD51B (RAD51 Paralog B), RAD51C (RAD51 paralog C), RAD51D (RAD51 paralog D), RAD54L (DNA Repair And Recombination Protein RAD54), TP53 (Tumor protein P53)
Method:
Next-Generation Sequencing (NGS)
