Material:
10 ml peripheres Blut oder Knochenmark
Antikoagulans: EDTA oder Heparin
Probenstabilität: 36 h

Methode:
NGS

Indikation:
Klassifizierung, Diagnose und Prognoseeinschätzung einer Akuten myeloischen Leukämie (AML), myeloproliferativer und myelodysplastischer Neoplasien (MPN, MDS)

DNA-Gene:
ABL1 (NM_005157.5, Exon 4-9), ASXL1 (NM_015338.5, CDS), BCOR (NM_001123385.1, CDS), BRAF (NM_004333.4, Exon 1-4,6,8,11,15,17,18), CALR (NM_004343.3, CDS), CBL (NM_005188.3, Exon 8-9), CEBPA (NM_004364.4, CDS), CSF3R (NM_156039.3, Exon 14,17,18), DNMT3A (NM_022552.4, Exon 11-23), ETV6 (NM_001987.4, CDS), EZH2 (NM_004456.4, CDS), FLT3 (NM_004119.2, Exon 8,11,13-16,20,23,24) GATA2 (NM_032638.4, Exon 4-5), HRAS (NM_001130442.1, Exon 2-3), IDH1 (NM_005896.3, Exon 4), IDH2 (NM_002168.3, Exon 4), IKZF1 (NM_006060.4, CDS ohne Exon 6), JAK2 (NM_004972.3, Exon 12-15), KIT (NM_000222.2, Exon 1,2,8-11,13,17), KRAS (NM_033360.3, Exon 2-5), MPL (NM_005373.2, Exon 3,4,10,12), MYD88 (NM_001172567.1, Exon 2-5), NF1 (NM_001042492.2, CDS), NPM1 (NM_002520.6, Exon 11), NRAS (NM_002524.4, Exon 2-4), PHF6 (NM_032458.2, CDS), PRPF8 (NM_006445.3, CDS), PTPN11 (NM_002834.3, Exon 3,12,13), RB1 (NM_000321.2, CDS), RUNX1 (NM_001754.4, CDS), SETBP1 (NM_015559.2, Exon 4), SF3B1 (NM_012433.3, Exon 14-21), SH2B3 (NM_005475.2, CDS), SRSF2 (NM_003016.4, Exon 1), STAG2 (NM_001042749.2, CDS), TET2 (NM_001127208.2, CDS), TP53 (NM_000546.5, CDS), U2AF1 (NM_006758.2, Exon 2,6), WT1 (NM_024426.4, Exon 7,8), ZRSR2 (NM_005089.3, CDS)

Translokationen: 
ABL::BCR, ABL::CABIN1, ABL::EML1, ABL::FOXP1, ABL::INPP5D, ABL::PRDM12, ABL::RALGPS1, ABL::RANBP2, ABL::RCSD1, ABL::SFPQ, ABL::SNX2, ABL::SPECC1L, ABL::ZMIZ1, ALK::MROH2B, BCL2::AFF3, BRAF::AGAP3, BRAF::AGK, BRAF::AGTRAP, BRAF::AKAP9, BRAF::AP3B1, BRAF::ARMC10, BRAF::ATG7, BRAF::BCL2L11, BRAF::BTF3L4, BRAF::C7orf73, BRAF::CCDC91, BRAF::CCNY, BRAF::CDC27, CBRAF::EP89, BRAF::CLCN6, BRAF::CUL1, BRAF::CUX1, BRAF::DYNC1I2, BRAF::EPS15, BRAF::FAM114A2, BRAF::FAM131B,BRAF::FCHSD1, BRAF::GATM, BRAF::GHR, BRAF::GNAI1, BRAF::GTF2I, BRAF::HERPUD1, BRAF::KCTD7, BRAF::KDM7A, BRAF::KIAA1549,BRAF::KLHL7, BRAF::LSM12, BRAF::LSM14A, BRAF::MACF1, BRAF::MAD1L1, BRAF::MKRN1, BRAF::MYRIP, BRAF::MZT1, BRAF::NUB1, BRAF::NUDCD3, BRAF::PAPSS1, BRAF::PLIN3, BRAF::RAD18, BRAF::RBMS3, BRAF::RNF130, BRAF::RP2, BRAF::SLC12A7, BRAF::SLC45A3, BRAF::SND1, BRAF::SOX6, BRAF::STRN3, BRAF::TANK, BRAF::TAX1BP1, BRAF::TMEM178B,BRAF::TMPRSS2, BRAF::TRIM24, BRAF::TRIM4, BRAF::UBN2, BRAF::ZC3HAV1, BRAF::ZKSCAN5, BRAF::ZSCAN30, CCND1::FSTL3, CREBBP::KAT6A, CREBBP::KAT6B, EGFR::EGFR; ETV6::ABL1, ETV6::ABL2, ETV6::ACSL6, ETV6::ANLN, ETV6::ARNT, ETV6::ATP2B1, ETV6::CDX2, ETV6::CHIC2, ETV6::DUSP16, ETV6::FGFR3, ETV6::FLT3, ETV6::FRK, ETV6::GOT1, ETV6::INO80D, ETV6::ITPR2, ETV6::JAK2, ETV6::LRP6, ETV6::LYN, ETV6::MECOM, ETV6::MN1,ETV6:: NCOA2, ETV6::NTRK2, ETV6::NTRK3, ETV6::PDGFRA, ETV6::PDGFRB, ETV6::PER1, ETV6::PRDM16, ETV6::PTPRR, ETV6::RUNX1, ETV6::SYK, FGFR1::ADAM32, FGFR1::BAG4, FGFR1::BCR, FGFR1::CNTRL, FGFR1::CPSF6, FGFR1::CUX1, FGFR1::ERVK3_1, FGFR1::FGFR1OP, FGFR1::FGFR1OP2, FGFR1::FN1, FGFR1::HOOK3, FGFR1::LRRFIP1, FGFR1::MYO18A, FGFR1::RANBP2,FGFR1::SQSTM1, FGFR1::TACC1, FGFR1::TPR, FGFR1::TRIM24, FGFR1::WHSC1L1, FGFR1::ZMYM2, FGFR2:: CCDC6; FUS::DDIT3, HMGA2::FHIT, HMGA2::LPP, HMGA2::RAD51B, JAK2::ATF7IP, JAK2::BCR, JAK2::BICD2, JAK2::EBF1, JAK2::OFD1, JAK2::PAX5, JAK2::PCM1, JAK2::PPFIBP1, JAK2::SEC31A, JAK2::SPAG9, JAK2::SSBP2, JAK2::STRN3, JAK2::TERF2, JAK2::TPM3, JAK2::TPR, KMT2A::ABI1, KMT2A::ABI2, KMT2A::ACACA, KMT2A::ACER1, KMT2A::ACTN4, KMT2A::ADARB2, KMT2A::AFF1, KMT2A::AFF3, KMT2A::AFF4, KMT2A::APBB1IP, KMT2A::ARHGAP26, KMT2A::ARHGEF12, KMT2A::ARHGEF17, KMT2A::ATG16L2, KMT2A::BTBD18,KMT2A::c11orf88, KMT2A::CASC5, KMT2A::CASP8AP2, KMT2A::CBL, KMT2A::CDK6, KMT2A::CEP170B,KMT2A::CREBBP, KMT2A::CT45A2, KMT2A::DAB2IP,KMT2A::DCP1A, KMT2A::DCPS, KMT2A::ELL, KMT2A::ENAH, KMT2A::EP300, KMT2A::EPS15, KMT2A::FLNA, KMT2A::FNBP1, KMT2A::FOXO3, KMT2A::FOXO4, KMT2A::FRYL, KMT2A::GAS7, KMT2A::GMPS, KMT2A::GPHN, KMT2A::KIAA1524, KMT2A::LASP1, KMT2A::LPP, KMT2A::MAML2, KMT2A::MAPRE1,KMT2A::MEF2C, KMT2A::MLLT1, KMT2A::MLLT10, KMT2A::MLLT11, KMT2A::MLLT3, KMT2A::MLLT4, KMT2A::MLLT6, KMT2A::MYH11, KMT2A::MYO18A, KMT2A::MYO1F, KMT2A::NCKIPSD, KMT2A::NEBL, KMT2A::NKAIN2, KMT2A::NRIP3, KMT2A::NUP98, KMT2A::PDS5A, KMT2A::PICALM, KMT2A::RABGAP1L, KMT2A::RNF115, KMT2A::RPS3, KMT2A::SARNP, KMT2A::SEPT11, KMT2A::SEPT2, KMT2A::SEPT5, KMT2A::SEPT6, KMT2A::SEPT9, KMT2A::SH3GL1,KMT2A:: SMAP1, KMT2A::SORBS2, KMT2A::TECR, KMT2A::TET1, KMT2A::TIRAP, KMT2A::TOP3A, KMT2A::USP2, KMT2A::UVRAG, KMT2A::ZFYVE19, MECOM::PSMD2, MET::KIF5B, MLLT10::DDX3X, MLLT10::HNRNPH1,MLLT10:: MLLT10::NAP1L1, MLLT10::NUP98, MLLT10::PICALM, MLLT3::PAX5, MYBL1::C8orf34, MYH11::CBFB, NTRK3::COX5A, NUP214::ABL1, NUP214::BRAF, NUP214::DEK, NUP214::XKR3, NUP214::SET, PDGFRA::BCR, PDGFRA::CDK5RAP2, PDGFRA::FIP1L1,PDGFRA::FOXP1,PDGFRA::KDR, PDGFRA::KIF5B, PDGFRA::SCAF11,PDGFRA::STRN, PDGFRA::TNKS2, PDGFRB::ATF7IP, PDGFRB::BIN2, PDGFRB::CAPRIN1, PDGFRB::CCDC6, PDGFRB::CCDC88C, PDGFRB::CEP85L, PDGFRB::CPSF6, PDGFRB::DTD1, PDGFRB::EBF1, PDGFRB::ERC1, PDGFRB::GIT2, PDGFRB::GOLGA4, PDGFRB::GOLGB1, PDGFRB::HIP1, PDGFRB::KANK1, PDGFRB::MPRIP, PDGFRB::MYO18A, PDGFRB::NDE1, PDGFRB::NIN, PDGFRB::PDE4DIP, PDGFRB::PRKG2, PDGFRB::RABEP1, PDGFRB::SART3, PDGFRB::SPECC1, PDGFRB::TNIP1, PDGFRB::TP53BP1, PDGFRB::TPM3, PDGFRB::TRIP11, PDGFRB::WDR48, PDGFRB::ZEB2, RARA::ADAMTS17,RARA:: BCOR, RARA::FIP1L1, RARA::IRF2BP2, RARA::NABP1, RARA::NPM1, RARA::NUMA1, RARA::PML, RARA::PRKAR1A, RARA::STAT5B, RARA::TBL1XR1, RARA::ZBTB16, RBM15::MKL1, RUNX1::AFF3, RUNX1::CBFA2T2, RUNX1::CBFA2T3, RUNX1::CEP76, RUNX1::CLCA2, RUNX1::EVX1, RUNX1::KIAA1549L, RUNX1::LPXN, RUNX1::MACROD1,RUNX1::MECOM, RUNX1::MRPS6, RUNX1::NOL4L, RUNX1::PRDM16, RUNX1::PRDX4, RUNX1::RPL22, RUNX1::RUNX1T1,RUNX1::SH3D19,RUNX1::TRPS1,RUNX1::USP16, RUNX1::USP42, RUNX1::YTHDF2,RUNX1:: ZFPM2, RUNX1::ZNF687, TCF3::HLF, TCF3::PBX1, TCF3::TFPT, TCF3::ZNF384, TFE3::GRIPAP1, TFE3::SFPQ

Normbereich: 
siehe Befundbericht

Literatur:
Döhner et. al. Blood 2017; DHGO-Leitlinie 03/2022

Hinweis:
Gene oder Translokationen können selbstverständlich auch einzeln angefordert werden.