- Produkty
- Reprodukce
- Molekulární diagnostika
- Kariéra
- O nás
- Kontakty
NGS panel pro detekci somatických mutací (SNV, InDel, CNV) ve 30 genech a 119 genových fúzí spojených s myelodysplastickými syndromy, myeloproliferativní neoplasmou a leukémií.
Příprava knihovny je založena na hybridization capture technologii.
Kit je validován pro NGS sekvenátory Illumina.
Součástí řešení je i unikátní software SOPHiA DDM pro sekundární a terciální analýzu výsledných NGS dat.
Seznam zahrnutých genů pro analýzu DNA: ABL1 (4-9), ASXL1 (10,12,13), BRAF (15), CALR (9), CBL (8,9), CEBPA (all), CSF3R(all), DNMT3A (all), ETV6 (all), EZH2 (all), FLT3 (13-15,20), HRAS (2,3), IDH1 (4), IDH2(4), JAK2 (all), KIT (2,8-11,13,17,18), KRAS (2,3), MPL (10), NPM1 (10,11), NRAS (2,3), PTPN11 (3,7-13), RUNX1 (all), SETBP1 (4), SF3B1 (10-16), SRSF2 (1), TET2 (all), TP53 (all), U2AF1 (2,6), WT1 (6-10), ZRSR2 (all)
Seznam zahrnutých genových fúzí: ATF7IP(13)-JAK2(9,11,13,15,17,18,19), BCR(1,4,6,7,12,13,14,19)-ABL1(2,3,4), BCR(1,4,6,7,12,13,14,19)-FGFR1(11), BCR(1,4,6,7,12,13,14,19)-JAK2(9,11,13,15,17,18,19), BCR(1,4,6,7,12,13,14,19)-PDGFRA(12), BMP2K(14,15)-ZNF384(2,3,4,7), CBFA2T3(10,11)-GLIS2(4,5), CBFB(4,5)-MYH11(29,30,31,32,33,34,35), CCDC6(1,7)-PDGFRB(9,11), CHIC2(3)-ETV6(2,3), CNTRL(38)-FGFR1(11), CREBBP(4,5,6,7)-ZNF384(2,3,4,7), CUX1(11)-FGFR1(11), DEK(9)-NUP214(17,18), EBF1(10,13,14,15)-JAK2(9,11,13,15,17,18,19), EBF1(10,13,14,15)-PDGFRB(9,11), EML1(18)-ABL1(2,3,4), EP300(6)-ZNF384(2,3,4,7), ETV6(4,5,6,7)-ABL1(2,3,4), ETV6(4,5,6,7)-ARNT(3), ETV6(4,5,6,7)-JAK2(9,11,13,15,17,18,19), ETV6(4,5,6,7)-NTRK3(14), ETV6(4,5,6,7)-NTRK3(15), ETV6(4,5,6,7)-PDGFRB(9,11), ETV6(4,5,6,7)-RUNX1(1), ETV6(4,5,6,7)-RUNX1(3), FGFR1OP(5,6,7)-FGFR1(11), FIP1L1(12)-PDGFRA(12), FOXP1(19)-ABL1(2,3,4), INPP5D(8)-ABL1(2,3,4), KAT6A(16)-CREBBP(2,3), KMT2A(8,9,10,11)-AFDN(2), KMT2A(8,9,10,11)-AFF1(4,5,6,11), KMT2A(8,9,10,11)-AFF3(7,8,12),
KMT2A(8,9,10,11)-AFF4(4,5,6), KMT2A(8,9,10,11)-ARHGAP26(19), KMT2A(8,9,10,11)-ARHGEF12(11,12,13), KMT2A(8,9,10,11)-ARHGEF17(2,3,4,5), KMT2A(8,9,10,11)-C2CD3(13,14,15,17), KMT2A(8,9,10,11)-CBL(10), KMT2A(8,9,10,11)-CIP2A(17), KMT2A(8,9,10,11)-CREBBP(2,3), KMT2A(8,9,10,11)-DCPS(2), KMT2A(8,9,10,11)-ELL(2,3,6), KMT2A(8,9,10,11)-EPS15(2,6), KMT2A(8,9,10,11)-FOXO3(2), KMT2A(8,9,10,11)-KMT2A(2), KMT2A(8,9,10,11)-KNL1(12), KMT2A(8,9,10,11)-MAML2(2,3), KMT2A(8,9,10,11)-MAPRE1(2,4,6), KMT2A(8,9,10,11)-MLLT1(2,4,5,6,7), KMT2A(8,9,10,11)-MLLT10(5,7,10,12,17), KMT2A(8,9,10,11)-MLLT11(2), KMT2A(8,9,10,11)-MLLT3(4,5,6,9,10), KMT2A(8,9,10,11)-MLLT6(8,9,12), KMT2A(8,9,10,11)-NRIP3(2), KMT2A(8,9,10,11)-RARA(2), KMT2A(8,9,10,11)-SEP5(2), KMT2A(8,9,10,11)-SEPT6(2), KMT2A(8,9,10,11)-SEPT9(2), KMT2A(8,9,10,11)-SEPT9(2), KMT2A(8,9,10,11)-TET1(9), MEF2D(7)-CSF1R(12),
MN1(1)-ETV6(2,3), MNX1(1)-ETV6(2,3), MYB(8)-GATA1(5), NCOR1(35)-LYN(8), NDE1(6)-PDGFRB(9,11), NPM1(4,6)-MLF1(3), NPM1(4,6)-RARA(2), NUP214(23,26,28,29,30,31,32,34)-ABL1(2,3,4), NUP98(10,11,12,13,14)-DDX10(6,7), NUP98(10,11,12,13,14)-HOXA9(1,2), NUP98(10,11,12,13,14)-KDM5A(27), NUP98(10,11,12,13,14)-NSD1(6), NUP98(10,11,12,13,14)-RAP1GDS1(2,3), NUP98(10,11,12,13,14)-TOP1(8), OFD1(21)-JAK2(9,11,13,15,17,18,19), P2RY8(1)-CRLF2(1), PAG1(8)-ABL2(3,5), PAX5(4)-ETV6(2,3), PAX5(4)-JAK2(9,11,13,15,17,18,19), PAX5(5)-ETV6(2,3), PAX5(5)-JAK2(9,11,13,15,17,18,19), PCM1(26,36)-JAK2(9,11,13,15,17,18,19),
PDE4DIP(16)-PDGFRB(9,11), PICALM(17,18,19)-MLLT10(5,7,10,12,17), PML(3,6)-RARA(2), RANBP2(18)-ABL1(2,3,4), RBM15(1)-MKL1(4,5), RCSD1(2)-ABL1(2,3,4), RCSD1(3)-ABL1(2,3,4), RUNX1(3)-RUNX1T1(6), SET(7)-NUP214(17,18), SFPQ(9)-ABL1(2,3,4), SNX2(3)-ABL1(2,3,4), SPAG9(26)-JAK2(9,11,13,15,17,18,19), SPTBN1(4)-FLT3(14), SPTBN1(4)-PDGFRB(9,11), SSBP2(5,6,8,10,16)-CSF1R(12), SSBP2(5,6,8,10,16)-JAK2(9,11,13,15,17,18,19), STAT5B(15,16)-RARA(2), STIL(1)-TAL1(3,4,6), STRN(6)-PDGFRA(12), STRN3(8,9)-JAK2(9,11,13,15,17,18,19), TAF15(6,9)-ZNF384(2,3,4,7), TCF3(11,13,15,16,17)-HLF(4), TCF3(11,13,15,16,17)-PBX1(3), TERF2(8)-JAK2(9,11,13,15,17,18,19), TPM3(8)-PDGFRB(9,11), TPR(22,39)-FGFR1(11), TRIM24(9,10,11)-FGFR1(11), ZBTB16(3,4)-ABL1(2,3,4), ZBTB16(3,4)-RARA(2), ZC3HAV1(12)-ABL2(3,5), ZEB2(9)-PDGFRB(9,11), ZMIZ1(18)-ABL1(2,3,4), ZMYM2(17)-FGFR1(11)
Pro více informací, nás prosím, kontaktujte na e-mailu: diagnostika@pentagen.cz