江门市中心医院外送检测服务项目（补充采购）市场调研公告

1

MPN相关基因突变及融合检测（基础套餐）

检测内容：分子分型（4个基因）JAK2、MPL、CALR、CSF3R。RNA融合（1个基因）BRC/ABL

2

血液肿瘤RNA-seq检测

RNA-seq检测

3

遗传性血液病相关基因检测

检测基因列表（20000+个基因）全外显子组(WES)

4

B-ALL相关基因突变及融合检测（中级套餐）（组合）

检测内容：分子分型（48个基因）：ABL1, ATM, BLNK, BRAF, BTG1, CARD11, CDKN2A, CDKN2B, CREBBP,   CRLF2, CSF3R, EBF1, EPOR, ERG, ETV6, EZH2, FBXW7, FLT3, GATA2, IKZF1, IKZF2,   IKZF3, IL7R, JAK1, JAK2, JAK3, KDM6A, KMT2A, KMT2D, KRAS, MSH6, NF1, NRAS,   NSD2, NT5C2, NTRK3, PAX5, PDGFRB, PTPN11, RB1, RUNX1, SETD2, SH2B3, TBL1XR1,   TCF3, TP53, TPMT, TYK2。RNA融合（14个基因）：BCR::ABL1, ETV6::RUNX1(TEL::AML1), ETV6::ABL1(TEL::ABL1),   TCF3::PBX1(E2A::PBX1), TCF3::HLF(E2A::HLF), KMT2A::MLLT3 (MLL::AF9),   KMT2A::AFF1(MLL::AF4), KMT2A::MLLT1 (MLL::ENL), KMT2A::MLLT11 (MLL::AF1q),   KMT2A::EPS15 (MLL::AF1p), KMT2A::AFDN (MLL::AF6), STIL::TAL1(SIL::TAL1),   FUS::ERG (TLS::ERG), ETV6::PDGFRB (TEL::PDGFRB)

5

T-ALL相关基因突变及融合检测（中级套餐）（组合）

检测内容：分子分型（59个基因）：ABL1, ASXL1, ATM, BCL11B, BRAF, CARD11, CCND3, CDKN1A, CDKN1B,   CDKN2A, CDKN2B, CREBBP, CTCF, DNM2, DNMT3A, EED, EP300, ETV6, EZH2, FBXW7,   FLT3, GATA3, IDH1, IDH2, IKZF1, IL7R, JAK1, JAK3, KDM6A, KMT2A, KMT2C, KMT2D,   KRAS, MED12, MTOR, MYC, NF1, NOTCH1, NRAS, NT5C2, PHF6, PIK3CA, PIK3CD,   PIK3R1, PTEN, PTPN11, PTPN2, RB1, RPL10, RUNX1, SETD2, SH2B3, STAT3, STAT5B,   SUZ12, TET2, TP53, TPMT, WT1RNA融合（14个基因）：BCR::ABL1, ETV6::RUNX1(TEL::AML1), ETV6::ABL1(TEL::ABL1),   TCF3::PBX1(E2A::PBX1), TCF3::HLF(E2A::HLF), KMT2A::MLLT3 (MLL::AF9),   KMT2A::AFF1(MLL::AF4), KMT2A::MLLT1 (MLL::ENL), KMT2A::MLLT11 (MLL::AF1q),   KMT2A::EPS15 (MLL::AF1p), KMT2A::AFDN (MLL::AF6), STIL::TAL1(SIL::TAL1),   FUS::ERG (TLS::ERG), ETV6::PDGFRB (TEL::PDGFRB)

6

ETP相关基因突变检测

检测内容：分子分型（30个基因）BRAF, CDKN2A, CDKN2B, CEBPA, DNMT3A, EED, EP300, ETV6, EZH2,   FBXW7, FLT3, GATA2, GATA3, IDH1, IDH2, IKZF1, IL7R, JAK1, JAK2, JAK3, KIT,   KRAS, NF1, NOTCH1, NRAS, PTPN11, RELN, RUNX1, SH2B3, SUZ12

7

MDS/MPN相关基因突变测序检测（中级套餐）

检测内容：分子分型（74个基因）ASXL1, ABL1, ASXL2, ATG2B, ATM, ATRX, BCOR, BCORL1, BLM, BPGM,   BRAF, CALR, CBL, CDKN2A, CEBPA, CHEK2, CSF3R, CUX1, DNMT3A, EED, EGLN1,   ELANE, EPOR, ETNK1, ETV6, EZH2, FLT3, GATA2, GNAS, GNB1, GSKIP, HAX1, IDH1,   IDH2, IKZF1, JAK2, KDM6A, KIT, KMT2A, KMT2C, KMT2D, KRAS, MPL, MYC, NF1,   NOTCH1, NPM1, NRAS, PDGFRA, PDGFRB, PHF6, PPM1D, PRPF8, PTEN, PTPN11, RAD21,   RB1, RUNX1, SETBP1, SF3B1, SH2B3, SMC3, SOCS1, SRSF2, STAG2, STAT5B, SUZ12,   TERT, TET2, TP53, U2AF1, VHL, WT1, ZRSR2。RNA融合（25个基因）：BCR::ABL1, CBFβ::MYH11, DEK::NUP214(DEK::CAN), ETV6::ABL1(TEL::ABL1),   ETV6::PDGFRB(TEL::PDGFRB), FIP1L1::PDGFRA, FUS::ERG(TLS::ERG),   KMT2A::AFDN(MLL::AF6), KMT2A::MLLT1(MLL::ENL), KMT2A::MLLT10(MLL::AF10),   KMT2A::SEPT6(MLL::SEPT6), KMT2A::ELL(MLL::ELL), KMT2A::MLLT6(MLL::AF17),   KMT2A::MLLT11(MLL::AF1q), KMT2A::EPS15(MLL::AF1p), KMT2A::MLLT3(MLL::AF9),   NPM1::MLF1, NPM1::RARA, PML::RARA, RUNX1::RPL22(AML1::EAP),   RUNX1::RUNX1T1(AML1::ETO), RUNX1::CBFA2T3(AML1::MTG16),   RUNX1::MECOM(AML1::EVI1), SET::NUP214(SET::CAN), ZBTB16::RARA(PLZF::RARA)

8

MPN相关基因测序检测（中级套餐）

检测内容：分子分型（74个基因）：ASXL1, ABL1, ASXL2, ATG2B, ATM, ATRX, BCOR, BCORL1, BLM, BPGM,   BRAF, CALR, CBL, CDKN2A, CEBPA, CHEK2, CSF3R, CUX1, DNMT3A, EED, EGLN1,   ELANE, EPOR, ETNK1, ETV6, EZH2, FLT3, GATA2, GNAS, GNB1, GSKIP, HAX1, IDH1, IDH2,   IKZF1, JAK2, KDM6A, KIT, KMT2A, KMT2C, KMT2D, KRAS, MPL, MYC, NF1, NOTCH1,   NPM1, NRAS, PDGFRA, PDGFRB, PHF6, PPM1D, PRPF8, PTEN, PTPN11, RAD21, RB1,   RUNX1, SETBP1, SF3B1, SH2B3, SMC3, SOCS1, SRSF2, STAG2, STAT5B, SUZ12, TERT,   TET2, TP53, U2AF1, VHL, WT1, ZRSR2

9

PML:RARA分型定量（初诊）

PML::RARA 融合基因分型+定量

10

MDS相关基因突变及融合检测（中级套餐）（组合）

检测内容：分子分型（68个基因）ANKRD26, ASXL1, ATM, ATRX, BCOR,   BCORL1, BRAF, CALR, CBL, CDKN2A, CEBPA, CSF3R, CTCF, CUX1, DDX41, DNMT3A,   EED, ETV6, EZH2, FLT3, GATA1, GATA2, GNAS, GNB1, IDH1, IDH2, JAK2, KDM6A,   KIT, KMT2A, KMT2D, KRAS, MPL, NF1, NOTCH1, NPM1, NRAS, PHF6, PIGA, PPM1D,   PRPF8, PTEN, PTPN11, RAD21, RB1, RUNX1, SBDS, SETBP1, SF1, SF3A1, SF3B1,   SH2B3, SMC1A, SMC3, SRP72, SRSF2, STAG2, STAT3, STAT5B, SUZ12, TERC, TERT,   TET2, TP53, U2AF1, U2AF2, WT1, ZRSR2。RNA融合（25个基因）：BCR::ABL1, CBFβ::MYH11,   DEK::NUP214(DEK::CAN), ETV6::ABL1(TEL::ABL1), ETV6::PDGFRB(TEL::PDGFRB),   FIP1L1::PDGFRA, FUS::ERG(TLS::ERG), KMT2A::AFDN(MLL::AF6),   KMT2A::MLLT1(MLL::ENL), KMT2A::MLLT10(MLL::AF10), KMT2A::SEPT6(MLL::SEPT6),   KMT2A::ELL(MLL::ELL), KMT2A::MLLT6(MLL::AF17), KMT2A::MLLT11(MLL::AF1q),   KMT2A::EPS15(MLL::AF1p), KMT2A::MLLT3(MLL::AF9), NPM1::MLF1, NPM1::RARA,   PML::RARA, RUNX1::RPL22(AML1::EAP), RUNX1::RUNX1T1(AML1::ETO),   RUNX1::CBFA2T3(AML1::MTG16), RUNX1::MECOM(AML1::EVI1), SET::NUP214(SET::CAN),   ZBTB16::RARA(PLZF::RARA)

11

KMT2A融合基因定量检测（RQ-PCR）

KMT2A融合基因定量检测

12

BCR::ABL1分型定量（初诊）

BCR::ABL1 融合基因分型+定量

13

LPL/WM相关基因突变检测

检测内容分子分型（33个基因）ARID1A, ARID1B, ATM, BIRC3, BRAF,   BTK, CARD11, CD79A, CD79B, CXCR4, DNMT3A, EZH2, FAT1, HIST1H1B, HIST1H1E,   IGLL5, KIT, KLHL6, KMT2D, LYN, MYD88, NOTCH1, NOTCH2, PLCG2, PRDM1, PTPN11,   SF3B1, SPEN, TET2, TNFAIP3, TP53, TRAF3, WT1

14

MYD88基因L265P突变检测（ddPCR）

MYD88基因L265P突变检测

15

AML相关基因突变及融合检测（中级套餐）（组合）

检测内容分子分型（72个基因）：ANKRD26, ABCB1, ARID1A, ARID1B,   ARID2, ASXL1, ASXL2, ATG2B, BCOR, BCORL1, BRAF, CALR, CBL, CEBPA, CREBBP,   CSF3R, CTCF, DDX41, DIS3, DNMT3A, ETNK1, ETV6, EZH2, FLT3, GATA1, GATA2,   GFI1, GNB1, GSKIP, HRAS, IDH1, IDH2, IKZF1, JAK1, JAK2, JAK3, KDM6A, KIT,   KMT2A, KMT2C, KRAS, MPL, MYC, NBN, NF1, NPM1, NRAS, NTRK1, PHF6, PML, PPM1D,   PTPN11, RAD21, RARA, RUNX1, SBDS, SETBP1, SETD2, SF3B1, SMC1A, SMC3, SRSF2,   STAG2, STAT5A, TERC, TERT, TET1, TET2, TP53, U2AF1, WT1, ZRSR2。RNA融合（25个基因）：BCR::ABL1,   CBFβ::MYH11, DEK::NUP214(DEK::CAN), ETV6::ABL1(TEL::ABL1),   ETV6::PDGFRB(TEL::PDGFRB), FIP1L1::PDGFRA, FUS::ERG(TLS::ERG),   KMT2A::AFDN(MLL::AF6), KMT2A::MLLT1(MLL::ENL), KMT2A::MLLT10(MLL::AF10)，KMT2A::SEPT6(MLL::SEPT6), KMT2A::ELL(MLL::ELL),   KMT2A::MLLT6(MLL::AF17), KMT2A::MLLT11(MLL::AF1q), KMT2A::EPS15(MLL::AF1p),   KMT2A::MLLT3(MLL::AF9), NPM1::MLF1, NPM1::RARA, PML::RARA,   RUNX1::RPL22(AML1::EAP), RUNX1::RUNX1T1(AML1::ETO),   RUNX1::CBFA2T3(AML1::MTG16), RUNX1::MECOM(AML1::EVI1), SET::NUP214(SET::CAN),   ZBTB16::RARA(PLZF::RARA)

16

CBFβ：MYH11融合基因定量检测（RQ-PCR）

CBFβ::MYH11 融合基因

17

RUNX1::RUNX1T（AML::ETO）定量检测（RQ-PCR）

RUNX1::RUNX1T1(AML1::ETO融合基因

18

血液肿瘤NGS阳性位点后续检测

根据过往NGS套餐检测阳性位点设定

19

血液肿瘤TP53基因突变检测

血液肿瘤TP53基因突变检测

20

T细胞克隆性评估

TCRB基因重排检测(片段分析)TCRD基因重排检测(片段分析)TCRG基因重排检测(片段分析)

21

B细胞克隆性评估

IGH基因D区重排检测(片段分析)IGH基因V区重排检测(片段分析)IGK基因重排检测(片段分析)IGL基因重排检测(片段分析)

22

CLL/SLL相关基因突变检测

检测内容：分子分型（41个基因）ATM, ARID1A, ASXL1, BCL2, BCOR,   BIRC3, BRAF, BTK, CDKN2A, CDKN2B, CHD2, DDX3X, EGR2, FBXW7, HIST1H1E, IKZF3,   IRF4, ITPKB, KLHL6, KMT2D, KRAS, MAP2K1, MED12, MGA, MYC, MYD88, NFKBIE,   NOTCH1, NRAS, PAX5, PLCG2, POT1, PTPN11, RPS15, SETD2, SF3B1, SPEN, TP53,   TRAF3, XPO1, ZMYM3

23

IGHV基因突变检测（NGS，血液肿瘤）

对IGH基因完整V区区段进行检测;

24

BCR::ABL1（p190）融合基因定量检测（RQ-PCR）

BCR::ABL1(p190)融合基因定量检测

25

PML-RARA融合基因定量检测（RQ-PCR）

PML::RARα融合基因定量检测

26

CMML相关基因测序检测

检测内容分子分型（47个基因）ASXL1, BCOR, BCORL1, BRAF, CALR,   CBL, CEBPA, CSF3R, CUX1, DNMT3A, EP300, ETNK1, ETV6, EZH2, FLT3, GATA2, GNAS,   IDH1, IDH2, JAK2, KDM6A, KIT, KMT2A, KRAS, MPL, NF1, NPM1, NRAS, PDGFRA,   PDGFRB, PHF6, PRPF8, PTPN11, RAD21, RUNX1, SETBP1, SF3B1, SH2B3, SMC1A, SMC3,   SRSF2, STAG2, TET2, TP53, U2AF1, WT1, ZRSR2

27

遗传性贫血及其它红细胞疾病相关基因测序检测

ABCB7, ABCD3, ABCD4, ABCG5, ABCG8,   ACAD8, ACTN4, ACVRL1, ADA, ADAMTS13, ADAR, AIRE, AK1, ALAD, ALAS2, ALDOA,   ALG8, AMMECR1, AMN, ANK1, APOB, ATP11C, ATP7B, ATRX, BMPR1A, BPGM, BRAF,   BRCA1, BRCA2, BRIP1, C3, CA2, CAD, CARD9, CASP10, CASR, CBLIF, CD40LG, CD55,   CD59, CDAN1, CDIN1, CLPX, COL4A1, COL7A1, COQ2, COX10, COX4I2, CP, CPOX,   CRIPT, CTC1, CTLA4, CUBN, CYB5A, CYB5R3, DCLRE1C, DDX41, DHFR, DKC1, DNAJC19,   DNASE1, DPAGT1, EFL1, EGLN1, ELMO2, ENG, EPAS1, EPB41, EPB42, EPHB4, EPO,   EPOR, ERCC4, FAM111A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG,   FANCI, FANCL, FARS2, FARSB, FCGR2A, FECH, FERMT3, FH, FOXP3, FTCD, G6PD,   GALT, GATA1, GCLC, GLA, GLRX5, GPI, GPX1, GSR, GSS, GTF2E2, HAMP, HBB, HBG1,   HBG2, HFE, HJV, HK1, HMBS, HMGCL, HMOX1, HPRT1, HSPA9, HYOU1, IL2RA, IL2RB,   IREB2, IRX5, KCNN4, KLF1, KMT2D, KRAS, LARS2, LAT, LCAT, LIG4, LMBRD1, LRBA,   LYRM7, LYST, LZTR1, MAD2L2, MMAA, MMAB, MMACHC, MMADHC, MMUT, MTHFD1, MTR,   MTRR, MTTP, MUC1, MVK, NBN, NDUFB11, NFKB1, NHLRC2, NHP2, NOP10, NPHP1,   NPHP4, NRAS, NT5C3A, OSTM1, PACS2, PALB2, PANK2, PARN, PCCA, PCCB, PEPD,   PFKM, PGK1, PIEZO1, PKLR, PLA2G4A, PLEC, PLEKHM1, PNP, PNPO, PPOX, PRDX1,   PRF1, PRKCD, PSMB4, PSMB8, PSMB9, PTF1A, PTPN11, PUS1, RAD51, RAD51C, RAF1,   RAG1, RAG2, RBM8A, REN, RFWD3, RHAG, RHCE, RIT1, RPL11, RPL15, RPL18, RPL26,   RPL27, RPL35, RPL35A, RPL5, RPS10, RPS15A, RPS17, RPS19, RPS24, RPS26, RPS27,   RPS28, RPS29, RPS7, RTEL1, SAMD9, SARS2, SEC23B, SEC61A1, SFXN4, SHOC2,   SLC11A2, SLC19A2, SLC25A13, SLC25A38, SLC2A1, SLC30A10, SLC40A1, SLC46A1,   SLC4A1, SLX4, SMAD4, SMARCAL1, SMPD1, SNX10, SOS1, SOS2, SPTA1, SPTB, SRD5A3,   SRP72, STAT1, STAT3, STEAP3, STIM1, STK11, STX11, STXBP2, TALDO1, TBCE,   TBXAS1, TCIRG1, TCN2, TERC, TERT, TF, TFR2, TGFB1, THRA, TINF2, TMEM67,   TMPRSS6, TNFAIP3, TNFRSF11A, TNFSF11, TP53, TPI1, TPP2, TREX1, TRNT1, TSR2,   TTC7A, UBE2T, UMPS, UNC13D, UROD, UROS, VHL, VPS13A, VPS33A, VPS45, WAS,   WRAP53, XK, XRCC2, XRCC4, YARS2

28

造血与淋巴组织肿瘤相关基因测序检测

检测内容分子分型（290个基因）ABCB1, ABL1, AKT3, ALK, ANKRD26,   APC, ARID1A, ARID1B, ARID2, ARID5B, ASXL1, ASXL2, ATG2B, ATM, ATP6V1B2, ATRX,   AXIN1, B2M, BAX, BCL10, BCL11B, BCL2, BCL6, BCL7A, BCOR, BCORL1, BIRC3, BLM,   BLNK, BPGM, BRAF, BRCA1, BRCA2, BRD4, BRIP1, BTG1, BTG2, BTK, CACNA1H, CALR,   CARD11, CBL, CBLB, CBLC, CCND1, CCND3, CCR4, CD22, CD28, CD58, CD70, CD79A,   CD79B, CDC25C, CDK6, CDKN1A, CDKN1B, CDKN2A, CDKN2B, CEBPA, CEBPE, CHD2,   CHD8, CHEK2, CIC, CIITA, CREBBP, CRLF2, CSF1R, CSF3R, CTCF, CUX1, CXCR4,   CYLD, DDX3X, DDX41, DHFR, DIS3, DKC1, DNAH10, DNM2, DNMT3A, DOT1L, DTX1,   DUSP2, EBF1, EED, EGFR, EGLN1, EGR1, EGR2, ELANE, EP300, EPHA7, EPOR, ERBB3,   ERG, ETNK1, ETV6, EZH2, FAS, FAT1, FAT3, FAT4, FBXO11, FBXW7, FGFR3, FLT3,   FOXO1, G6PC3, GATA1, GATA2, GATA3, GFI1, GNA13, GNAI2, GNAS, GNB1, GSKIP,   HAX1, HFE, HIST1H1B, HIST1H1C, HIST1H1D, HIST1H1E, HRAS, HUWE1, ID3, IDH1, IDH2,   IGLL5, IKBKB, IKZF1, IKZF2, IKZF3, IL7R, IRF4, IRF8, ITK, ITPKB, JAK1, JAK2,   JAK3, JUNB, KAT6A, KDM6A, KIT, KLF2, KLHL6, KMT2A, KMT2B, KMT2C, KMT2D, KRAS,   KRT20, LMO2, LTB, LYN, MAP2K1, MAX, MCL1, MDM2, MED12, MEF2B, MFHAS1, MGA,   MLH1, MPL, MSH2, MSH6, MTOR, MYC, MYD88, MYOM2, NBN, NF1, NFKBIA, NFKBIE,   NOTCH1, NOTCH2, NOTCH3, NOTCH4, NPM1, NRAS, NSD2, NT5C2, NTRK1, NTRK2, NTRK3,   NUDT15, P2RY8, PALB2, PAX5, PDGFRA, PDGFRB, PHF6, PIGA, PIK3CA, PIK3CD,   PIK3R1, PIM1, PIM2, PLCG1, PLCG2, PML, PMS2, POT1, POU2AF1, PPM1D, PRDM1,   PRF1, PRKCB, PRKD2, PRKDC, PRPF8, PTCH1, PTEN, PTPN11, PTPN2, PTPN6, PTPRD,   PTPRT, RAD21, RAD50, RARA, RB1, RELN, RHOA, RPL10, RPS15, RRAGC, RTEL1,   RUNX1, SBDS, SETBP1, SETD1B, SETD2, SETDB1, SF1, SF3A1, SF3B1, SGK1, SH2B3,   SH2D1A, SLC29A1, SMARCA4, SMARCB1, SMC1A, SMC3, SOCS1, SP140, SPEN, SRP72,   SRSF2, STAG2, STAT3, STAT5A, STAT5B, STAT6, SUZ12, SYK, TAL1, TBL1XR1, TCF3,   TENT5C, TERC, TERT, TET1, TET2, TINF2, TMEM30A, TNFAIP3, TNFRSF14, TP53,   TPMT, TRAF2, TRAF3, TRAF5, TYK2, U2AF1, U2AF2, UBR5, VHL, WAS, WT1, XPO1,   ZAP70, ZFHX4, ZMYM3, ZRSR2

29

70基因检测

70基因检测

30

CPS基因检测

CPS基因检测

31

血清免疫固定电泳（IgD+IgE）

/

32

血管性血友病因子（vWF：Ag）

/

33

家族性噬血细胞综合相关基因检测套餐（NGS+MLPA）

/

34

HLA高分辨基因初筛分型，SBT

/

35

HLA等位基因确认分型，NGS

/

36

血清游离轻链组合

/

37

Vlll因子抑制物

/

38

尿蛋白电泳定量(带M蛋白)

/

39

腺病毒抗原测定

/