For all profiling needs, OncoHelix’ s exclusive test facility, HTL, uses validated and well-established panels from industry leading technology partners.

NGS Panels

Specimen compatibility: Genomic DNA & RNA extracted from fresh frozen and FFPE tissues

DNA GENES ALONE:

Small variants and indel (148): AKT1, AKT2, AKT3, ALK, APC, AR, ARID1A, ATM, ATR, BAP1, BARD1, BCL2, BCL6, BRAF, BRCA1, BRCA2, BRIP1, BTK, CARD11, CCND1, CCND2, CCNE1, CD79A, CD79B, CDH1, CDK12, CDK4, CDK6, CDKN2A, CEBPA, CHEK1, CHEK2, CREBBP, CSF1R, CTNNB1, DDR2, DNMT3A, EGFR, EP300, ERBB2, ERBB3, ERBB4, ERCC1, ERG, ESR1, EZH2, FAM175A, FANCI, FANCL, FBXW7, FGF1, FGF10, FGF2, FGF23, FGF3, FGF4, FGF5, FGF7, FGF9, FGFR1, FGFR2, FGFR3, FGFR4, FLT1, FLT3, FOXL2, GNA11, GNAQ, GNAS, HNF1A, HRAS, IDH1, IDH2, INPP4B, JAK2, JAK3, KDR, KIT, KRAS, MAP2K1, MAP2K2, MCL1, MDM2, MDM4, MET, MLH1, MLLT3, MPL, MRE11A, MSH2, MSH3, MSH6, MTOR, MUTYH, MYC, MYCN, MYD88, NBN, NF1, NOTCH1, NOTCH2, NOTCH3, NPM1, NRAS, NRG1, PALB2, PDGFRA, PDGFRB, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PIK3R1, PMS2, PTCH1, PTEN, PTPN11, RAD51B, RAD51C, RAD54L, RB1, RET, RICTOR, ROS1, SLX4, SMAD4, SMARCB1, SMO, STK11, TET2, TP53, TSC1, TSC2
DNA amplification target genes (59): AKT2, ALK, AR, ATM, BRAF, BRCA1, BRCA2, CCND1, CCND3, CCNE1, CDK4, CDK6, CHEK1, CHEK2, EGFR, ERBB2, ERBB3, ERCC1, ERCC2, ESR1, FGF1, FGF10, FGF14, FGF19, FGF2, FGF23, FGF3, FGF4, FGF5, FGF6, FGF7, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FGFR4, JAK2, KIT, KRAS, LAMP1, MDM2, MDM4, MET, MYC, MYCL1, MYCN, NRAS, NRG1, PDGFRA, PDGFRB, PIK3CA, PIK3CB, PTEN, RAF1, RET, RICTOR, RPS6KB1, TFRC

OR

DNA GENES LISTED ABOVE PLUS RNA GENES:

RNA fusion target genes (55): ABL1, AKT3, ALK, AR, AXL, BCL2, BRAF, BRCA1, BRCA2, CDK4, CSF1R, EGFR, EML4, ERBB2, ERG, ESR1, ETS1, ETV1, ETV4, ETV5, EWSR1, FGFR1, FGFR2, FGFR3, FGFR4, FLI1, FLT1, FLT3, JAK2, KDR, KIF5B, KIT, KMT2A (MLL), MET, MLLT3, MSH2, MYC, NOTCH1, NOTCH2, NOTCH3, NRG1, NTRK1, NTRK2, NTRK3, PAX3, PAX7, PDGFRA, PDGFRB, PIK3CA, PPARG, RAF1, RET, ROS1, RPS6KB1, TMPRSS2

Specimen compatibility: Genomic DNA and RNA extracted from fresh frozen and FFPE tissues

DNA amplification target genes: BRCA 1, BRCA2, ATM, FGFR 1, FGFR 2, FGFR 3, FGFR 4

Specimen compatibility: Genomic DNA extracted from fresh blood sample

SNVs, deletions and insertions (up to 24bp):

AKT1: E17, ALK: T1151, L1152, C1156, F1174, L1196, L1198, G1202, D1203, S1206, G1269, R1275, Y1278 AR: L702H, V716, S741, W742, Q784, H875, F877, T878, M896 BRAF: Q201, G464, G466, F468, G469, Y472, D594, F595, G596, L597, V600, K601, part of Exon 15 (V600-M620), G606, CCNE: Amplification, CTNNB1: D32, S33, G34, I35, H36, S37, T41, S45, DDR2: L239, I638, S768, DICER1: D1705-D1709, G1809, D1810-E1813, EGFR: R108, A289, S492, P596, G598, Exon18, Exon19, Exon20, Exon21, & Amplification, ERBB2: G309, S310, K753, L755, I767, D769, Exon 20, & Amplification, ESR1: K303, E380, S463, V534, P535, L536, Y537, D538, FGFR1: N546, K656, & Amplification, FGFR2: S252, P253, W290, A315, S372, Y375, C382, N549, K659, E731, E777, & Amplification, FGFR3: R248, S249, G370, S371, Y373, G380, A391, 650, FOXL2: C134, GNA11: Q209, GNAQ: Q209, GNAS: R201, HRAS: G12, G13, Q61, IDH1: R132, IDH2: R140, R172, KIT: S476, Y553, W557 559, V560, L576, K642, V654, T670, D816, D820, N822, Y823, A829, Exon9, Exon11, Exon13, & Amplification, KRAS: K5, A11, G12, G13, L19, Q22, A59, G60, Q61, K117, A146, & Amplification, MAP2K1(MEK1): F53, Q56, K57, K59, V0, D67, I103, I111, C121, N122, P124, P387, MAP2K2(MEK2): F57, Q60, K61, L119, H123, G132, MET: T1010, V1112, H1112, G1181, L1213, D1246, Y1248, Y1253, Exon13, Exon 14 (-50 to +25), Exon18, & Amplification, NRAS: G12, G13, A59, G60, Q61, K117, A146, NTRK1: F589, G595, G667, NTRK3: G623, G696, PDGFRA: R560-E571, P577, N659, D842, L839-Y849, PIK3CA: R88, C90, R93, P104, G106, N107, R108, K111, R115, N345, R357, G364, E365, Exon6 [start to P377], C420, E453, P539, E542, E545, Q546, D549, E970, E978, M1043, N1044, A1046, H1047, G1049, & Amplification, POLE: Exon9, Exon10, Exon11, Exon12, Exon13, Exon14, (P286R, M295R, S297F, F367S, D368Y, V411L, L424I, M444K, A456P, S459F), PTCH1: W844, G1093, PTEN: A126, G129, R130, R173, R233, K254-K267, RET: G533, K603, C609, C611, C618, C620, C630, D631, C634, G691, E768, L790, Y791 V804, Y806, A886, S904, M918, A919, Exon10, Exon13, Exon15, ROS1: S1986, L2026, G2032, STK11: Q37, P281, TP53: Exon4, Exon5, Exon6, Exon7, Exon8, Exon9; MSI: 21Loci

Myeloid (DNA) Panel

Specimen compatibility: Genomic DNA extracted from biopsies (bone marrow, lymph node, peripheral blood etc.). NOT FFPE compatible

Full genes (15): BCOR, BCORL1, CDKN2A, CEBPA, CUX1, DNMT3A, ETV6, EZH2, IKZF1, KDM6A , PHF6 , RAD21, RUNX1, STAG2, ZRSR2
Hotspot genes (39): ABL1, ASXL1, ATRX, BRAF, CALR, CBL, CBLB, CBLC, CSF3R, FBXW7, FLT3, GATA1, GATA2, GNAS, HRAS, IDH1, IDH2, JAK2, JAK3, KIT, KRAS, MLL, MPL, MYD88, NOTCH1, NPM1, NRAS, PDGFRA, PTEN, PTPN11, SETBP1, SF3B1, SMC1A, SMC3, SRSF2, TET2, TP53, U2AF1, WT1