SOPHiA DDM Dx Hereditary Cancer Solution

Product code: BS0102ILLCGLL01

Producer: SOPHiA GENETICS

Detection of SNV, InDel and CNV germline mutations in 26 genes using NGS.

More detailed product information

NGS panel for the detection of germline mutations (SNVs, indels and CNVs) in 26 genes associated with breast and ovarian cancer, Lynch and intestinal polyposis syndromes. Library preparation is based on hybridization capture technology.

The kit is validated for Illumina NGS sequencers and is CE IVD certified

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

List of genes involved: ABRAXAS1, APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, PALB2, PIK3CA, PMS2, PMS2CL1, PTEN, RAD50, RAD51C, RAD51D, STK11, TP53, XRCC2

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