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Regions-of-interest (ROI) in the panel genes
Targeted sequencing of specific gene regions for disease-relevant mutations.
Test description
All coding exons:
ARID1A, ATM, B2M, BCL2, BCOR, BCORL1, CARD11, CEBPA, CREBBP, CSF3R, CUX1, CXCR4, DDX41, DNMT3A, EP300, ETV6, EZH2, FBXW7, FOXO1, GATA2, GNA13, ID3, IDH1, IDH2, IKZF1, IL7R, JAK1, JAK2, JAK3, KDM6A, KLF2, KMT2A, KMT2D, KRAS, MAP2K1, MPL, MYC, NF1, NFKBIE, NOTCH2, NRAS, PAX5, PDGFRA, PHF6, PIM1, POT1, PPM1D, PRDM1, PTEN, RAD21, RUNX1, SETD2, SH2B3, SMC1A, SOCS1, STAG2, STAT3, TCF3, TET2, TNFAIP3, TNFRSF14, TP53, ZRSR2
.
Targeted coverage:
ABL1 (exons 4-10), ANKRD26 (exons 1-4), ASXL1 (exons 10,12-13), BIRC3 (exons 6-9), BRAF (exon 15), BTK (exons 10-19), CALR (exon 9), CBL (exons 8-9), CCDN1 (exon 1), CD79B (exons 5-6), CRLF2 (exon 6), ETNK1 (exon 3), FLT3 (exons 11,13-17,20), GATA1 (exons 2-4), GNAS (exons 8-9), HRAS (exons 2-3), KIT (exons 2,8-11,13,17-18), MEF2B (exons 2-3), MYD88 (exons 3-5), NOTCH1 (exons 26-28, 34), NPM1 (exons 10-11), PLCG2 (exons 18-33), PTPN11 (exons 3,7-13), RHOA (exon 2), SETBP1 (exon 4), SF3B1 (exons 10-16), SMC3 (exons 10,13,19,23,25,28), SRSF2 (exon 1), STAT5B (exons 14-17), STAT6 (exons 8-18), U2AF1 (exons 2,6), WT1 (exons 7,9), XPO1 (exons 15-16).
Exons described as per the MANE select reference transcript.
All ROI include 5 bases into flanking introns.
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