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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