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Oncopanel expanded with new genes and the use of digitalMLPA
Genes tested by NGS: APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, EPCAM, ERCC2, ERCC3, FANCC, FANCM, FH, FLCN, GREM1, MET, MLH1, MLH3, MSH2, MSH6, MUTYH, NBN, NF2, PALB2, POLD1, POLE, PRKAR1A, PTEN, PTCH1, RAD50, RAD51C, RAD51D, RET, SDHB, SLX4, SMAD4, SMARCB1, STK11, SUFU, TP53, VHL, WRN, WT1, UNC13D, MEN1, MITF, NTHL1, NF1, CHEK2, PMS2, RB1, PDK1, PDK2, PKHD1, PRSS1, PRSS2, SCG5, SPINK1, CTRC and HOXB13. Of which now newly introduced genes for NGS: MITF, PDK1, PDK2, PKHD1, PRSS1, PRSS2, SCG5, SPINK1, CTRC and HOXB13.
Enhanced testing of the DPYD gene
Following the recommendation of the European Medicines Agency CPIC (Clinical Pharmacogenetics Implementation Consortium), GHC Genetics laboratory has expanded testing of the DPYD gene (5-fluorouracil dosage) to test additional variants:
We have established cooperation with the Veronica patient organisation.
We are pleased to announce that in February we established cooperation with the Veronica patient organization. The Veronica patient organisation brings together patients with endometrial, vulvar, ovarian and cervical cancer and women with the BRCA 1 and BRCA 2 genetic mutations.
Miracles of medicine and an interview with our laboratory manager Rénata Michalovská
The new issue of the Miracles of Medicine magazine has just been published, where you can find an interview with the head of our laboratory, Rénata Michalovská. You will learn what predictive genetics can tell you about your body and your health (more than you would say), from intolerances to predispositions, for instance, to cardiovascular problems or cancer.