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  4. SOPHiA Homologous Recombination Deficiency Solution

SOPHiA Homologous Recombination Deficiency Solution

Product code: BS0121ILLRSMY08
Producer: SOPHiA GENETICS
NGS solution for detection of variants of 28 HRR genes and determination of genomic integrity to determine HRD status.

More detailed product information

A product enabling the determination of HRD status by combining two approaches, thereby reducing analysis time and costs.
The investigation includes the detection of mutations of 28 genes involved in the HRR pathway using hybrid capture technology and at the same time determining the genomic integrity index using WGS.

The solution also includes the unique SOPHiA DDM software for secondary and tertiary analysis of the resulting NGS data.

List of coverd genes: AKT1*, ATM, BARD1, BRCA1, BRCA2, BRIP1, CCNE1, CDK12, CHEK1, CHEK2, ESR1*, FANCA, FANCD2,
FANCL, FGFR1*, FGFR2*, FGFR3*, MRE11, NBN, PALB2, PIK3CA*, PPP2R2A, PTEN, RAD51B, RAD51C, RAD51D, RAD54L, TP53.


For more information, please contact us by e-mail: diagnostika@pentagen.cz