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Gene variant testing

Risk prediction for hereditary genetic diseases is an important effort handled by medical professionals, including molecular clinical geneticist and medical geneticist. Our cell based functional assays can provide critical support for this process by testing if gene variants are LOF for a disease relevant phenotype, and hence likely pathogenic.

One example of such an approach: Zhenya Ivakine and his team have carried out saturated mutagenesis covering a large region of the hereditary breast and ovarian cancer gene, BRCA2


By comparing the functional classification of BRCA2 gene variants, with the clinical status according to ClinVar, Zhenya Ivakine and his team showed that their assay can classify BRCA2 gene variants with high specificity and sensitivity. 


Moreover, such information can also help guide targeted treatment for cancer patients. BRCA2 patients with variants that retain high function scores are unlikely to benefit from BRCA2-targeting drugs such as PARP inhibitors.


Please get in contact or book a meeting, and we can discuss opportunities for supporting your risk prediction challenge.

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