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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.

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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)

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