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Oncopanel expanded with new genes and the use of digitalMLPA
12. 09. 2023
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
12. 09. 2023
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: c.1236G>A (HapB3) c.1679T>G (DPYD*13) c.1905+1G>A (DPYD*2A) c.2846A>T (p.D949V)
We have introduced Chronic Lymphocytic Leukemia (CLL) testing
12. 09. 2023
CLL is a cancer of the white blood cells (lymphocytes) that affects mostly elderly patients (>50 years) and almost exclusively Caucasians. It is the most common type of leukaemia in Europe. Men are affected twice as much as women. CLL is a disease that develops very slowly and is difficult to catch at an early stage.