Hereditary tumor syndromes

Detection of germline and somatic SNVs and CNVs in the BRCA1 and BRCA2 genes

Detection of germline mutations in 12 genes associated with breast and ovarian tumor syndromes by amplicon sequencing.

Detection of germline and somatic mutations in BRCA1, BRCA2, PALB2 genes.

Detection of germline mutations in 10 genes incl. differentiation of PMS2 gene variants and PMS2CL pseudogene

Reliable and effective CNV analysis of 28 genes using unique digitalMLPA technology

Panel groups based on amplicon sequencing, which allows detection of low frequency variants (<1%) in key cancer genes.

Detection of SNV, InDel and CNV germline mutations for a hereditary cancer syndromes by NGS.