领先技术:肿瘤分子诊断与基因检测
2017年05月05日
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目录

采用第II/III代的高精度测序(Automated capture-based next-generation sequencing)技术,美国CAP、CLIA认证检测中心,多学科专业人员分析解读数据(遗传学家、病理学家、肿瘤学临床专家等),为肿瘤患者医生提供详细的靶向用药选择方案以及临床试验选择方案。

肿瘤基因检测

1. Myeloid Molecular Profile 骨髓瘤基因检测 – 40 genes

(ASXL1, BCOR, BRAF, CALR, CEBPA, CBL, CSF3R, DNMT3A, ETV6, EZH2, GATA2, GNAS, IDH1, IDH2, JAK2, KIT, KRAS, MPL, NF1, NPM1, NRAS, PDGFRa, PDGFRb, PHF6, PTPN11, RAD21, RUNX1, SETBP1, SF3B1, SMC1A, SMC3, SRSF2, STAG2, STAT3, STAT5b, TET2, TP53, U2AF1, WT1, ZRSR2)

2. MDS Molecular Profile 骨髓增生异常综合征 – 5 genes

(ASXL1, ETV6, EZH2, RUNX1, TP53)

3. MPN Molecular Profile 恶性外周神经瘤 – 5 genes

(CALR, CSF3R, JAK2, MPL, SETBP1)

4. AML Molecular Profile 急性髓系白血病 – 21 genes

(ASXL1, BCOR, CEBPA, DNMT3A, EZH2, IDH1, IDH2, KIT, KRAS, NPM1, NRAS, PHF6, RUNX1, SF3B1, SRSF2, STAG2, TET2, TP53, U2AF1, WT1, ZRSR2)

5. Lymphoid Molecular Profile 淋巴瘤 – 75 genes

(ABL1, ALK, ATM, BCL2, BCL6, BCOR, BIRC3, BRAF, BTK, CARD11, CCND1, CD79A, CD79B, CDKN2A, CREBBP, CTCF, CXCR4, DDX3X, EP300, ETV6, EZH2, FAT1, FBXW7, FOXO1, GNA13, GNAI2, HIST1H1E, ID3, IKZF1, ITPKB, JAK1, JAK2, JAK3, KMT2A/MLL, KRAS, MAPK1, MED12, MEF2B, MYC, MYD88, NF1, NOTCH1, NOTCH2, NRAS, P2RY8, PDGFRb, PIK3CD, PIM1, PLCG2, POT1, PRDM1, PTEN, PTPN11, RB1, RHOA, RIPK1, S1PR2, SAMHD1, SF3B1, SGK1, SPEN, SRC, STAT3, STAT5B, SYK, TBL1XR1, TCF3, TNFAIP3, TNFRSF14, TP53, TRAF2, TRAF3, UBR5, XPO1, ZMYM3)

6. Lung Molecular Profile 肺癌 – 25 genes

(AKT1, ALK, ARAF, BCL2L11, BRAF, DDR2, EGFR, ERBB2, FGFR1, FGFR2, FGFR3, HRAS, IGF1R, KRAS, MAP2K1, MDM2, MET, NRAS, PDGFRá, PIK3CA, PTEN, RET, ROS1, STK11, TP53)

7. Melanoma Molecular Profile 黑色素瘤 – 15 genes

(AKT3, BRAF, CCND1, CDK4, ERBB4, GNA11, GNAQ, KIT, MAP2K1, MAP3K9, MITF, NF1, NRAS, PIK3CA, PTEN)

8. NexCourse? Solid 实体瘤全基因分析 – 110 genes

(ABL1, AKT1, AKT2, AKT3, ALK, APC, AR, ARAF, BAP1, BCL2L11, BRAF, BRCA1, BRCA2, BTK, CBL, CCND1, CCNE1, CDH1, CDK2, CDK4, CDK6, CDKN1B, CDKN2A, CSF1R, CTCF, CTNNB1, DDR2, DDX3X, EGFR, EPHA2, ERBB2, ERBB3, ERBB4, ESR1, ETV6, FBXW7, FGFR1, FGFR2, FGFR3, FGFR4, FLT1 (VEGFR1), FLT3, FOXO1, GATA3, GNA11, GNAQ, GNAS, HIF1A, HNF1A, HRAS, IDH1, IDH2, IGF1R, JAK1, JAK2, JAK3, KDR, KEAP1, KIT, KMT2A/MLL, KRAS, MAP2K1, MAP2K2, MAP2K4, MAP3K1, MAP3K9, MAPK1, MCL1, MDM2, MED12, MET, MITF, MTOR, MYC, NF1, NKX2-1, NOTCH1, NOTCH2, NRAS, NTRK1, PALB2, PBRM1, PDGFRa, PDGFRb, PIK3CA, PIK3CD, PIK3R1, PTCH1, PTEN, PTPN11, RB1, RET, RHEB, RHOA, RICTOR, RIT1, ROS1, RUNX1, SMAD4, SMARCB1, SMO, SPEN, SPOP, SRC, STK11, SYK, TP53, TSC1, TSC2, VHL)

9. NexCourse? Complete 实体瘤全基因分析 – 173 genes

(ABL1, AKT1, AKT2, AKT3, ALK, APC, AR, ARAF, ASXL1, ATM, BAP1, BCL2, BCL2L11, BCL6, BCOR, BIRC3, BRAF, BRCA1, BRCA2, BTK, CALR, CARD11, CBL, CCND1, CCNE1, CD79A, CD79B, CDH1, CDK2, CDK4, CDK6, CDKN1B, CDKN2A, CEBPA, CREBBP, CRLF2, CSF1R, CSF3R, CTCF, CTNNB1, CXCR4, DDR2, DDX3X, DNMT3A, EGFR, EP300, EPHA2, ERBB2, ERBB3, ERBB4, ESR1, ETV6, EZH2, FAT1, FBXW7, FGFR1, FGFR2, FGFR3, FGFR4, FLT1 (VEGFR1), FLT3, FOXO1, GATA2, GATA3, GNA11, GNA13, GNAI2, GNAQ, GNAS, HIF1A, HIST1H1E, HNF1A, HRAS, ID3, IDH1, IDH2, IGF1R, IKZF1, ITPKB, JAK1, JAK2, JAK3, KDR, KEAP1, KIT, KMT2A/MLL, KRAS, MAP2K1, MAP2K2, MAP2K4, MAP3K1, MAP3K9, MAPK1, MCL1, MDM2, MED12, MEF2B, MET, MITF, MPL, MTOR, MYC, MYD88, NF1, NKX2-1, NOTCH1, NOTCH2, NPM1, NRAS, NTRK1, PALB2, P2RY8, PBRM1, PDGFRA, PDGFRB, PHF6, PIK3CA, PIK3CD, PIK3R1, PIM1, PLCG2, POT1, PRDM1, PTCH1, PTEN, PTPN11, RAD21, RB1, RET, RHEB, RHOA, RICTOR, RIPK1, RIT1, ROS1, RUNX1, S1PR2, SAMHD1, SETBP1, SF3B1, SGK1, SMAD4, SMARCB1, SMC1A, SMC3, SMO, SOX2, SPEN, SPOP, SRC, SRSF2, STAG2, STAT3, STAT5B, STK11, SYK, TBL1XR1, TCF3, TET2, TNFAIP3, TNFRSF14, TP53, TRAF2, TRAF3, TSC1, TSC2, U2AF1, UBR5, VHL, WT1, XPO1, ZMYM3, ZRSR2)

10. MLL-PTD Mutation Analysis

FLT3 Mutation Analysis

病理分子诊断

特殊染色SPECIAL STAINS

Alcian Blue/PAS

Copper

Movat’sPentachrome

Alcian Blue

Diff Quik

Mucicarmine

Alcian Blue & Hyaluronidase

Elastic

Oil RedO

Amyloid(crystalviolet)

FastRed

Reticulum

Argyrophil(carcinoid)

Giemsa

PAS(-Diastase)PAS(+Diastase)

Argentaffin

Iron

PTAH

Basement membrane(Gomori)

Keratin(Ayoub-Shklar)

ToluidineBlue (mastcell)

Bile

Melanin (Fontana-Masson)

Trichrome

ColloidalIronwith/withouthyaluronidase

Melanin-Bleach

VictoriaBlue

CongoRed

MethylGreenPyronine

WrightGiemsa

 特殊微生物染色 SPECIAL STAINS– MICROORGANISMS

AFB

Gridley

Brown& Hopps (Bacteria)Fite

Steiner& Steiner(Spirochetes)

GMS






免疫组化IMMUNOHISTOCHEMISTRY

34BE12 (CK903)

CD163

MART-1

AACT

CDX-2

MITF

AAT

CEA (Monoclonal)

MLH1

ACTH

CEA (Polyclonal)

MOC-31

Actin

ChromograninA CK5

MSH2

AE1/AE3

CK7

MSH6

AFP

CK20

MUM-1

Alk-1Protein

CyclinD1 (Bcl-1)

MyelinBasic Protein

Annexin

cMET

Myeloperoxidase

Arginase-1

CMV

Myogenin

Bcl-2 oncoprotein

D2-40

Myoglobin

Bcl-6

DBA 44 (HCL)

Napsin A

Ber-EP4

Desmin

Neurofilament

Beta-Catenin

DOG-1

NSE

B723

E-Cadherin

OCT 3/4

C4d

EBV(EBER)byISH

OSCARbroadspectrum keratin

Calcitonin

EBV-LMP

P504S P16

Caldesmon

EMA ER

P40

Calponin

ERCC1

P53

Calretinin

FactorVIII

P57

CAM5 2

Factor XIIIa

P63

Carbonic Anhydrase (CAIX)

Fascin

P120-Catenin

CD1a

FSH

Pancreatic Polypeptide

CD2

Gastrin

Parvovirus

CD3

GATA-3

Pax-2

CD4

GCDFP (BRST-2)

Pax-5

CD5

GFAP

Pax-8

CD7

Glucagon

PTH Perforin PG-M1

CD8

Glycophorin-A

PIN-4 (Prostate triple stain)

CD10

Glypican-3

Placental Alkaline Phosphatase (PLAP)

CD11c

Granzyme B

Placental Lactogen (PLAC)

CD14

Growth Hormone

PMS2

CD15

HCG Beta

PR Prolactin PSA

CD19

Helicobacter pylori

Prostatic Acid Phosphatase (PAP)

CD20

Hepatitis B

PRLR

CD21

Core Ag

PTEN

CD22

Hepatitis B Surface Ag

RCC

CD23

Hep-Par1 (Hepat Sp Ag)

RRM1

CD25

HER2

S100P Serotonin

CD30

Herpes type 1 (HSV1)

Smooth Muscle Actin

CD31

Herpes type 2 (HSV2)

SMMHC (sm musc myosin heavy chain)

CD33

Hemoglobin A

Somatostatin

CD34

HHV8

SV40

CD40

HMB45

Synaptophysin

CD42b

Ig A

T-bet

CD43 (Leu22)

Ig D

TdT

CD45 (LCA)

Ig G

Thymidylate Synthase

CD45RO (UCHL-1)

Ig M

Thyroglobulin

CD56

Inhibin-A

TSH

CD57 (Leu7)

Insulin

TTF-1

CD61

Kappa

TIA-1

CD68 (KP1)

Kappa by ISH

Toxoplasma gondii

CD71

Ki67 (MIB-1)

TRAP TTF-1

CD79a

Lambda

Tyrosinase

CD99-MIC-2

Lambda by ISH

Tryptase (Mast Cell) Villin

CD103

Laminin

Vimentin

CD117, c-kit

LH

WT-1

CD123

Lysozyme (Muramidase)

ZAP-70

CD138

Mammaglobin


磷酸化免疫组化PHOSPHO IMMUNOHISTOCHEMISTRY

pAKT(Ser473)

p4EBP1(Thr37/46)

pMET(Tyr1234/1235)

pS6(Ser235/236)

p44/42MAPK(pERK1/2)(Thr202/Tyr204)

pSTAT5(Tyr694)

pS6(Ser240/244)

pMEK1/2(Ser221)

pRb(Ser780)andtotalRb

病理报告PATHOLOGYREPORTS

? Compass? and Chart? Blood Evaluation (comprehensive analysis)

? Compass? and Chart? Bone Marrow Evaluation (comprehensive analysis)

? Blood/Bone Marrow Morphology

? Second Opinion Consultation/Central Review

? Hematopathology Consultation

FLOW CYTOMETRY (流式细胞仪检测)

FLOW CYTOMETRY MARKERS 流式细胞仪检测分子

CD1a

CD19

CD45

CD123

CD2

CD20

CD55

CD138

CD3

CD22

CD56

CD200

CD4

CD23

CD57

Ep Cam

CD5

CD25

CD59

FLAER

CD7

CD26

CD61

FMC-7

CD8

CD27

CD64

CD235a

CD10

CD28

CD71

Heavy Chains

CD11b

CD33

CD79a

HLA-DR

CD11c

CD34

CD79b

Kappa / Lambda

CD13

CD38

CD81

MPO

CD14

CD41a

CD103

TCR a/b/g/d

CD16

CD43

CD117

TdT

FLOW CYTOMETRY PROFILES

Intelligent Flow Profile

(Markers as needed)

Immunophenotyping(免疫分型)

Kappa, Lambda, 7-AAD, FMC7, HLA-DR, CD2, CD3, CD4, CD5, CD7, CD8, CD10, CD11b, CD11c, CD13, CD14, CD16, CD19, CD20, CD22, CD23, CD25, CD33, CD34, CD38, CD45, CD56, CD64, CD103, CD117

Large Granular Lymphocyte (LGL,大颗粒淋巴细胞)

CD3, CD4, CD5, CD8, CD16, CD45, CD56, CD57, Ta/b, Tg/d

Paroxysmal Nocturnal Hemoglobinuria (PNH) Evaluation (阵发性睡眠性血红蛋白)

CD14, CD33, CD45, CD55, CD59, FLAER, 7-AAD

Stem Cell (干细胞)

Ms, 7-AAD, CD34, CD45

Undifferentiated Acute Leukemia (未分化急性白血病)

cCD3, cCD22, CD34, CD41, CD45, CD61, cCD71a, cCD79a, cTdT, cMPO, Glycophorin

Chronic Lymphocytic Leukemia (CLL, 慢性淋巴细胞白血病) Minimal Residual Disease (MRD, 微小残留病) Profile

Kappa, Lambda, FMC-7, 7-AAD, CD3, CD5, CD10, CD19, CD20, CD22, CD23, CD43, CD79b

Mantle Cell Lymphoma (MCL, 套细胞淋巴瘤) Minimal Residual Disease (MRD) Profile

7-AAD, CD3, CD5, CD19, CD20, CD22, CD43, CD79b, CD81

Multiple Myeloma (多发性骨髓瘤) Monitoring/Minimal Residual Disease (MRD) Profile

Kappa, Lambda, CD19, CD20, CD27, CD28, CD38, CD56, CD81, CD138, CD200.

细胞遗传学检测

细胞遗传学报告CYTOGENETICS REPORTS

? Chromosome Analysis and Fluorescence in situ Hybridization (FISH)

? Chromosome Analysis Only

? Fluorescence in situ Hybridization (FISH) Only

FISH MARKERS 
PROBE ABNORMALITY PROBE ABNORMALITY


ALK

t(2;5), inv(2)EML4-ALK

IGH

14q32 rearrangements

AP12/MALT1

t(11;18)

IGH/BCL2

t(14;18)

ATM

Chromosome11q22 3 deletion

IGH/CCND1

t(11;14)

BCL6

3q27rearrangement

IGH/cMYC

t(8;14)

BCR/ABL,9q34 (ASS1)

t(9;22) with 9q34

IGH/FGFR3

t(4;14)

CBFb/MYH11

inv(16)

IGH/MAF

t(14;16)

CCND3,6q21, 6q23

Chromosome6q deletions

MALT1

18q21  rearrangements

CEP8 (8Cen)

Trisomy8

cMET

cMET amplification

CEP9 (9Cen)

Trisomy9

MLL

11q23  rearrangements

CEP12 (12Cen)

Trisomy12

cMYC

8q24rearrangements

CEP15 (15Cen)

Trisomy15

PDGFRα

4q12 rearrangements

CKS1B(1p32 3/1q21)

Chromosome1 rearrangements

PDGFRβ

5q32 rearrangements

D13S319 (13q14, 13q34)

Chromosome 13q deletion

PI3K

PI3K amplification

D20S108

Chromosome20q deletion

PML/RARA

t(15;17)

D5S23/D5S721(5p12)

Trisomy5

RARA

t(15;17),t(11;17),t(5;17),iso(17q)

D7S486 (7p11/7q31)

Chromosome7q deletion

RET

10q11 rearrangements

EGFR/CEP7

EGFR amplification

ROS1

6q21 rearrangements

EGR1 (5p15/5q31)

Chromosome5qdeletion&Trisomy 5

RUNX1T1-RUNX1 (ETO/AML)

t(8;21)

ETV6/RUNX1(TEL/AML)

t(12;21)

TCRalpha/delta

14q11 rearrangements

FGFR1

8p11  rearrangements

TP53(17p 13)

Chromosome17p deletion

HER2

HER2 amplification

X/Y Cen


 



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