SOPHIA Genetics

A comprehensive solution combining a capture-based enrichment kit and the SOPHiA DDM™ platform for advanced clinical exome analysis, featuring targeted enhancements to increase coverage in critical regions and detect complex variants in a single workflow. Detailed Description Operating Principle A genomic application integrating a capture enrichment kit with the advanced analytical modules of the SOPHiA…

Solutions for the study of genetic alterations associated with different hereditary cancer predisposition syndromes, based on next-generation sequencing and automated analysis using the SOPHiA DDM™ software. Detailed Description SOPHiA GENETICS™️ solutions for hereditary cancer use capture-based NGS technology to achieve uniform coverage of target regions and high on-target rates. The analytical workflow relies on SOPHiA…

NGS panel for the study of 23 key genes associated with Chronic Lymphocytic Leukemia (CLL), including the biomarkers outlined in international guidelines (TP53 and somatic hypermutation).

Study of genes associated with heart diseases.

Study of 54 genes associated with different types of lymphomas.

Study of the 44 most clinically relevant genes related to nephropathies.

Study of 4 genes associated with breast and ovarian cancer.

Analysis of 42 genes involved in the in the most common solid tumors: lung, colorectal, skin, and brain cancers

Study of the coding regions of more than 19,000 genes by NGS.

Identification of mutations associated to Myelodysplasic Syndroms, Myeloproliferative Neoplasms and Leukemia.