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SOPHiA Myeloid Plus Solution

Product code: BS0112ILLRSMY01
Producer: SOPHiA GENETICS
NGS panel for the detection of somatic variants and gene fusions using hybrid capture technology.

More detailed product information

NGS panel for detection of somatic mutations (SNV, InDel, CNV) in 30 genes associated with myelodysplastic syndromes, myeloproliferative neoplasm and leukemia.
Library preparation is based on hybridization capture technology.

The kit is validated for Illumina NGS sequencers.

The solution also includes the unique SOPHiA DDM software for secondary and tertiary analysis of the resulting NGS data.

List of genes covered for DNA analysis: 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)

List of gene fusions: 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)


For more information, please contact us by e-mail: diagnostika@pentagen.cz