几家代表性医院检验科现开展检验项目.ppt

几家代表性医院几家代表性医院检验科现开展检验项目检验科现开展检验项目JohnsHopkinsMedicalLaboratories项目简介华西医院检验科项目简介协和医院检验科项目简介中山达安基因项目简介肿瘤个体化用药常用项目简介我的思考JohnsHopkinsMedicalLaboratories600NorthWolfeStreetMeyerB-130Baltimore,MD21287-7070Phone[phone]Fax[phone]JHMLServicesBloodDisorders&SpecialCoagulation临检和凝血ClinicalChemistry生化Cytokine细胞因子HIVSpecialtyServicesHIV筛查Immunology免疫MedicalMicrobiology医学微生物MolecularPathology&Cytogenetics分子病理和细胞基因NeoplasticHematopathology&FlowCytometry血液病理和流式细胞仪TransfusionMedicine血库Cardiovascular Panel心血管项目组合Testabnormalitiesinthispanelcorrelatewithanincreasedriskofcardiovasculardisorders.FactorVIIActivityFibrinogenActivityHomocysteine(specialcollection)Lipoprotein(a)PlasminogenActivatorInhibitor-1(PAI-1)ProthrombinFragment1.2TissuePlasminogenActivatorAntigenCirculating Anticoagulant and Lupus Anticoagulant循环抗凝和狼疮抗凝Abasicscreeningpanelforfactordeficienciesandthedetectionofinhibitors.APTTMixingStudies(APTT)MixingStudies(PT)PT(ProthrombinTime)PlateletNeutralizationd-RVVT,withconfirmAnti-cardiolipenAntibody,IgG,IgM,IgAAnti-B2GP1antibodies,IgG,IgM,IgAAbnormal PT and/or APTT Evaluation一般凝血检查Thispanelisusedtoevaluatethecauseofanabnormalprotimeoractivatedpartialthromboplastintime.APTTAPTTMixingStudiesHepzyme(Testforheparincontamination)PT(ProthrombinTime)PT(ProthrombinTime)MixingStudiesPlateletNeutralizationDDAVP Challenge血管加压素耐受性ThepanelisusedtoevaluatetheresponseofmildhemophiliaandvonWillebranddiseasepatientstoDDAVP.FactorVIIIActivityRistocetinCoFactorassayWFAntigenHEME-8(pre-post)DIC ScreenDIC筛查TheDICscreenisusefulinthediagnosisandfollow-upofdisseminatedintravascularcoagulation.APTTD-dimer(Quantitative)FibrinogenProthrombinTimeExtrinsic Pathway Panel外凝血通路组合Panelusedtoevaluateandidentifythecauseofanabnormalprothrombintime.FactorVIIActivityFactorXActivityFactorVActivityFactorIIActivityIntrinsic Pathway Panel内内 凝血通路组合Panelcanbeusedtoevaluateandidentifythecauseofanabnormalactivatedpartialthromboplastintime.FactorXIIActivityFactorXIActivityFactorIXActivityFactorVIIIActivityFibrinolysis Panel纤维蛋白溶解组合Thefibrinolysispanelmaybeusedtomonitorordiagnoseacquiredorcongenitalabnormalitiesofthefibrinolyticsystem.alpha-2-AntiplasminD-dimerQuantitativeFibrinogenDegradationProductsPlasminogenActivatorInhibitor-1(PAI-1)PlasminogenActivityTissuePlasminogenActivatorAntigenLupus Anticoagulant(Antiphospholipid Screen)狼疮抗凝(抗磷脂筛查Abasicscreeningpanelforthedetectionoflupus-likeinhibitors.TheprofilemayalsobeusedforpatientswithanunexplainedprolongedprothrombintimeorAPTT.AnticardiolipinAntibody(ELISA)APTTandMixingStudiesD-RVVT(DiluteRussellViperVenom)andMixingStudiesPT(ProthrombinTime)andMixingStudiesPlateletNeutralizationTestifevidenceforaninhibitorPlatelet Function Panel 血小板功能组合Panelusedtoidentifyplateletfunctionproblems.PFA-100BleedingTimeClotRetractionPlateletAggregationPlateletSecretion(ATPrelease)FlowcytometrystudiesifindicatedProthrombinConsumptionTestThrombotic Risk Panel 血栓风险组合Thethromboticriskpanelisacomprehensivegroupoftestsforevaluatingpatientswithhypercoagulablestates.ActivatedProteinCResistanceandFactorVLeidenAntithrombinIIIActivityDiluteRussellsViperVenom(D-RVVT)FibrinogenActivity,FibrinogenAntigenHomocysteine(specialcollection)Lipoprotein(a)LupusAnticoagulantScreenPlasminogenActivatorInhibitor1(PAI-1)PlasminogenActivityCActivityProteinCAntigenProteinSActivityProteinSAntigenTotalThrombinTimeTissuePlasminogenActivatorAntigenProthrombinGeneMutationThrombotic Risk Screen血栓风险筛检Agroupofbasictestsusedtoscreenpatientsforonlythemostcommoncausesofthrombosis.ActivatedProteinCResistanceAntithrombinIIIActivityD-RVVTHomocysteine(specialcollection)ProteinCActivityProteinSActivityvon Willebrand Panel血管性血友病因子ThispanelisfortheevaluationofsuspectedvonWillebranddisease.APTTFactorVIIIActivityRistocetinCofactorvWFAntigenvWFMultimersasneededMarkers of Hyper-Coagulation高凝状态标志物Prothrombinfragment1,2Plasmap-SelectinThromboxaneBeta-ThromboglobulinPF4Miscellaneous Bleeding Disorders各种出血紊乱FactorXIIIActivityProtein Tests 特种蛋白特种蛋白CryoglobulinScreenwithreflextoimmunofixationelectrophoresisforpositivesCSFIgGIndexbynephelometryCSFIgG(IgG/TotalProteinas%)Electrophoresis,Protein,serumElectrophoresis,Protein,serumwithimmunoglobulinquantitationsandimmunofixationelectrophoresisElectrophoresis,Protein,24-hoururineorrandomurine:includestotalproteinElectrophoresis,Protein,24-hoururineorrandomurine:includestotalprotein,immunoglobulinquantitationsandimmunofixationelectrophoresisElectrophoresis,BenceJonesProtein,24-hoururineorrandomurineincludestotalproteinandimmunofixationelectrophoresisHaptoglobinbynephelometryIgA,SerumbynephelometryIgG,SerumbynephelometryIgM,SerumbynephelometryPrealbuminbynephelometryAutoimmune Disease Tests自身免疫自身免疫ANAScreenwithreflextotiterandpatternforpositivesbyIFAC3bynephelometryC4bynephelometryCyclicCitrullinatedPeptide(CCP)IgGbyEIAdsDNAScreenwithreflextotiterforpositivesbyIFAJo-1antibodybyEIAMitochondrialantibodywithreflextotiterforpositivesbyIFARheumatoidFactorbynephelometrySclerodermaantibody(Scl-70)byEIASjogrensantibody(SS-A)byEIASjogrensantibody(SS-B)byEIASmantibodybyEIARNPantibodybyEIASmoothMuscleantibodywithreflextotiterforpositivesbyIFAInfectious Disease Serology Tests各种传各种传染病细菌学检查染病细菌学检查Anti-StreptolysinObynephelometryCMVIgGbyEIACMVIgMbyMEIAEBVIgG(EA,VCA,EBNA)byEIAEBVIgMbyIFAHelicobacterpyloriIgGbyEIAHSVIgGbyEIAHSVIgMbyEIALymeDiseasebyEIAwithreflextoWesternBlotforpositiveandequivocalresultsMononucleosisScreenbyagglutinationMumpsIgGbyEIARubellaIgGbyMEIARubeolaIgG(measles)byEIASyphilisSerologybyRPRwithreflextotiterandFTAifpositiveToxoplasmaIgGbyMEIAToxoplasmaIgMbyMEIAVZV(Varicellazoster)IgGbyEIAVDRLbymicroflocculationWestNileIgMbyEIAHIV-1p24AntigenTesting(DirectandICD)QualitativeandQuantitativeHIV-1PlasmaandPBMCCultureTestQualitativeDNAPCRTestingQuantitativeHIV-1RNATestingMolecular Diagnostics LaboratoryWeprovideamultitudeofclinicaltestingforleukemia,lymphoma,solidtumors,colorectalcancerpredisposition,andhematologicmutations.Leukemia白血病白血病RFLP-Thistestisperformedonbonemarrowtransplant(BMT)patientsandtheirdonorsbeforeBMTtoidentifyaninformativeprobe,andthenafterBMTonthepatienttomonitorthestatusofthegraft.IgHPCR-ThistestidentifiesB-cellclonalityinleukemiaandlymphoma.TCR-GammaPCR-ThistestidentifiesT-cellclonalityinleukemiaandlymphoma.BCR-ABLRT-PCR-Thistestidentifiesthet(9:22)BCR/ablgenetranslocation(Philadelphiachromosome)presentinmorethan99%ofCMLandfrequentlyinall.Lymphoma淋巴瘤BCL2/IgHPCR-Thistestidentifiesthet(14:18)BCL2/IgHgenetranslocation(majorandminorbreakpointregions)seeninfollicularlymphomaandlargecelllymphoma.Specialty tests特殊检查APCI1307K-ThistestidentifiesthehereditarypredispositionforcolorectalcancerintheAshkenaziJewishpopulation.Leukemia白血病FlowCytometry(PhenotypicCharacterization,ResidualDiseaseDetection)MorphologyConsultations-BloodandMarrowCytogenetics(incollaborationwiththeCytogeneticsLaboratory)MolecularDiagnostics(incollaborationwiththeMolecularDiagnosticsLaboratory)Lymphoma淋巴瘤淋巴瘤FlowCytometry(PhenotypicCharacterization,Staging,ResidualDiseaseDetection,FineNeedleAspirates)MorphologyConsultations-LymphNodeandotherTissueBiopsiesImmunohistochemistryMoleculardiagnostics(incollaborationwiththeMolecularDiagnosticLaboratory)Specialty Tests特殊检查CD34CountingPNH(ParoxysmalNocturnalHemoglobinuria)Diagnosis阵发性睡眠性血红蛋白尿Bacteriology细菌MolecularMicrobiology分子微生物Mycobacteriology结核菌Mycology真菌Parasitology寄生虫Virology病毒Special Pathogen DetectionActinomycesspp.:Culture;PCRBordetella pertussis:Culture;PCRLegionella pneumophila:Culture;Directfluorescentantibody;PCRMycoplasma pneumoniae:PCRMycoplasma hominis/Ureaplasma urealyticum:CultureBartonellaspp.:Culture;PCRChlamydia pneumoniae:PCRChlamydia trachomatis:Culture;PCREhrlichia/Anaplasma:PCRBorrelia burgdorferi:Culture;PCRNeisseria gonorrheae:Culture;PCRBacterial IdentificationGas-liquidchromatographyofglucosemetabolicendproductsforanaerobeidentification.Cellwallfattyacidanalysisforspeciationofnon-fermentingoruncommonisolates.16SribosomalRNAgenesequenceanalysisforidentification.Toxin TestingStaphylococcus aureusPanton-ValentineleukocidinShiga-liketoxins1and2Clostridium difficiletoxinbyantigenandcytotoxicmethodsAntibiotic Susceptibility Testing and MonitoringAgardilutionsusceptibilitytesting(MIC)Antibioticbacteriocidaldetermination(MIC/MBC)Antibioticserumactivity(Schlichtertest-MID/MBD)AntibioticsynergytestingAntibioticserumleveldeterminationsMoleculardeterminationofantibioticresistancegenesMethicillinresistance(mecA)Vancomycinresistance(vanA;vanB;vanC)Molecular EpidemiologyPulsed-fieldgelelectrophoresis(PFGE)Restrictionfragment-lengthpolymorphisms(RFLP)Epstein-Barrvirus(EBV)detectionandquantificationbyPCRParvovirusB19PCRdetectionBKvirusdetectionandquantificationbyPCRJCvirusdetectionbyPCRCytomegalovirus(CMV)PCRdetectionVaricella-Zostervirus(VZV)PCRdetectionHepatitisCvirus(HCV)quantificationbyPCRHCVgenotypeidentificationbydirectsequencingHepatitisBvirusquantificationbyPCRAdenovirusdetectionbyPCREnterovirusdetectionbyPCRHighRiskHPVdetection(HC-2,Digene)EhrlichiachaffeensisandAnaplasmaphagocytophila(HGEagent)PCRdetectionAtypicalpneumoniapathogendetectionbyPCR(Mycoplasma pneumoniae,Legionella pneumophila,Chlamydia pneumoniae)Bacterialidentificationby16SribosomalRNAgenesequencingMolecularepidemiologybyPFGEorRFLPStaphylococcusenterotoxinandTSST-1geneandShiga-liketoxingeneidentificationbyPCRBordetella pertussisPCRDetectionMycobacteriologyMycobacteriaspeciesidentificationandsusceptibilitytesting,especiallyforpatientswithmultiplyresistantpathogens,isbeyondtheroutinetestingavailableinmosthospitallaboratories.TheJohnsHopkinsHospitalMycobacteriologyLaboratoryoffersthefollowingtesting:Culture/smearSpeciationMycobacterialbloodcultureRoutinesusceptibilitytestingforM.tuberculosisSusceptibilitytestingforselectnon-specificmycobacteriauponrequestPCRforM.tuberculosisfromsmearpositiverespiratory(only)specimensMycologyMostclinicallaboratoriescanonlyidentifycommonfungi,buttheHospitalsdiversepatientbasegivestheMicrobiologyLaboratoryexperiencetestingforspeciationofunusualorganismsandforperformingyeastinvitrosusceptibilitytesting.Fungalidentification(yeast,dimorphics,filamentous)真菌鉴定Cryptococcusantigendetection(隐球菌抗原检测）Fungalculture（真菌培养）Directmicroscopicexamination（直接镜检）KOHCalcofluorwhite（荧光染色，用于鉴别孢子虫)GiemsaYeastinvitrosusceptibilitytesting酵母菌体外药敏试验AmphotericinB二性霉素BItraconazole伊曲康唑Voriconazole伏立康唑Fluconazole弗康唑5-fluorocytosine5-弗胞嘧啶Caspofungin卡波芬净ParasitologyTheMicrobiologyLaboratoryhasextensiveexperiencediagnosingproblemsininternationalpopulationsexposedtounfamiliarparasites,cancerpatientswhoareimmune-suppressed,andHIV-infectedpatientswhoarepronetodevelopunusualinfections.Malariaandotherbloodparasitesdetectionandidentification疟原虫和其他血寄生虫的鉴别CryptosporidiumandIsosporaidentification隐孢子虫Microsporidiumssp.identification小孢子虫Pneumocystiscariniiidentification卡氏肺囊虫Giardialambliaidentification肠兰伯式鞭毛虫肠兰伯式鞭毛虫 VirologyTheVirologyLaboratorywithintheDivisionofMedicalMicrobiologyusesmanydifferentcelllinesforculture,appliesnewmethodologiesforrapidandearlyidentificationofpathogenicviruses,andperformsviralsusceptibilitydeterminationsrarelyperformedinotherlaboratories.Respiratoryvirus(respiratorysyncytialvirus(RSV),influenzaA,influenzaB,parainfluenzaviruses1-3,adenovirus)rapidantigendetectionandculture呼吸道病毒Herpessimplexculture单纯疱疹单纯疱疹Cytomegalovirus(CMV)culture巨细胞病毒巨细胞病毒Cytomegalovirus(CMV)culture-earlyantigenCytomegalovirus(CMV)quantificationbyPCRVaricella-Zostervirus(VZV)culture水水痘痘-带状疱疹病毒带状疱疹病毒Enterovirusculture肠道病毒Adenovirusculture腺病毒OtherViralcultures其他病毒Viralsusceptibility病毒药敏MolecularVirology(seeMolecularMicrobiology)分子病毒学华西医院检验科独特项目游离脂肪酸（游离脂肪酸（Free fatty acids,FFA）3-甲氧基甲氧基-4羟基苦杏仁酸羟基苦杏仁酸（Vanillylmandelic acid,VMA）抗酒石酸酸性磷酸酶（抗酒石酸酸性磷酸酶（Tartrate resistant acid phosphatase-5b,TRAP-5b）人巨细胞病毒载量（人巨细胞病毒载量（HCMV viral load）沙眼衣原体沙眼衣原体DNA（CT-DNA）淋球菌淋球菌DNA（NG-DNA）疱疹病毒疱疹病毒I、II DNA（HSV I&II-DNA）HLA抗体特异性试验抗体特异性试验（PRA）HLA抗体筛查试验抗体筛查试验(HLA I、II antibody screening test)HLA抗原抗原DNA分型（分型（HLA antigen detection）解脲支原体解脲支原体DNA（UU-DNA）B细胞（细胞（CD19CD5）转铁蛋白转铁蛋白(Transferrin，TRF)骨特异性碱性磷酸酶（骨特异性碱性磷酸酶（-ALP）T细胞亚群细胞亚群(CD3,CD4,CD8)1抗胰蛋白酶抗胰蛋白酶(Alpha1-antitrypsin,AAT)1酸性糖蛋酸性糖蛋(Alpha1AcidGlycoprotein)(AAG)干扰素（干扰素（IFN）免疫固定电泳（免疫固定电泳（Immunofixation Electrophoresis,IFE）可溶性白细胞介素可溶性白细胞介素2受体（受体（sIL-2R）可溶性细胞凋亡因子配体（可溶性细胞凋亡因子配体（sFasL）可溶性细胞凋亡因子（可溶性细胞凋亡因子（sFas）可溶性细胞间粘附分子可溶性细胞间粘附分子1（sICAM-1）可溶性细胞间粘附分子可溶性细胞间粘附分子3（sICAM-3）可溶性血管粘附分子可溶性血管粘附分子1（sVCAM-1）尿轻链定量（尿轻链定量（）循环免疫复合物（循环免疫复合物（circulating immune complex,CIC）抗凝血酶抗凝血酶3(Antithrombin,AT3)新碟呤（新碟呤（Neopterin）白细胞介素白细胞介素-2（IL-2）4,6,8,10,12,13结合珠蛋白结合珠蛋白(Haptoglobin，HPT)自然杀伤细胞（自然杀伤细胞（Natural Killer Cells,NK）血管内皮生长因子（血管内皮生长因子（VEGF）肝纤肝纤 PC C LN HA MAO FNALA*-氨基氨基-酮戊酸（酮戊酸（-amino levulinic acid,ALA）亮氨酰氨基肽酶（亮氨酰氨基肽酶（leucine aminopeptidase，LAP）冷球蛋白（冷球蛋白（cryoglobulins cryo）酸性磷酸酶（酸性磷酸酶（acid phosphatase，ACP）磷脂（磷脂（phospholipid，PL）VWF胶原结合分析（胶原结合分析（vWF collogen binding assay）vWF抗原测定抗原测定(vWF antigen determination)X因子活性测定因子活性测定(factor X activity determination因子活性测定因子活性测定(factor II activity determination因子活性测定因子活性测定(factor VII activity determination)因子活性测定因子活性测定(factor VIII activity determination)因子活性测定因子活性测定(factor IX activity determination)抗碱血红蛋白抗碱血红蛋白(Alkali-resistant hemoglobin)血红蛋白电泳和血红蛋白电泳和HbA2测定（测定（hemoglobin electrophoresis and mensuration for HbA2）高铁血红蛋白还原试验高铁血红蛋白还原试验(methemoglobin reduction test)北京协和医院检验科项目达安基因目录美国每年医学实验室检查70-100亿个标本其中TCT2.4亿，组织病理6千万个大于97%癌症通过组织活检确诊，而不是肿瘤标志物，中华医学会检验分会肿瘤标志物委员会和美国NIH均有文件明确指出：肿瘤标志物不能用于肿瘤的普查国家发改委已明确表示今后医疗付费模式是按病种付费医疗机构与医保部门讨价还价的是临床路径临床路径的实施的结果是今后大组合和与诊断关系不大项目肯定萎缩IOM报告每年医疗事故：科罗拉多州和犹他州44000例死亡，纽约州98000例死亡每年医疗事故导致死亡人数，超过车祸（44000），乳腺癌（43000）和艾滋病（17000）的总和经济损失美元170-290亿质量保证是基础，包括设备/试剂HepatitisBsurfaceantigenmutantdetectiononfourimmunoassayanalysers.ARCHITECTi2000AXSYMElecesysVitrosMutantdetection12/1212/127/126/12Turn-aroundtime30m30m20m38mCalibtationstability28d23d28d28dCostperreportable(us)2.192.381.941.88ThefivediscordantmutantswerePro142-Ser+Gly145-Arg;Gly145-ARG;Asp144-Ala+Gly145-Arg;Thr126-Ser+Gly145-Arg;Pro142-Leu+Gly145-ArgS.L.Saw,etal.NationalUniversityHospitalSingapor个体化医疗核心-分子诊断分子诊断较传统诊断可以更早诊断疾病分子诊断蛋白水平免疫组化流式细胞学免疫荧光/电镜核酸水平遗传学原位杂交PCRMicroarray测序当今有明确应用有乳腺癌：FISH查HER2/NEU淋巴瘤：IgM和T细胞受体基因重排遗传性非息肉性结肠癌：肺癌：EGFR脑瘤：1p/19q丢失转移相关肉瘤PCR诊断微卫星不稳定性传统的检测DNA策略遗传学（筛查，screening)大插入/缺失，扩增，易位原位杂交（选择，selection)大插入/缺失，扩增，易位基于PCR方法突变，小插入/缺失，重复改变，大插入/缺失，扩增，易位新的DNA检测策略微阵列（选择，selection)不能发现未知基因测序（筛查，screening)不适合发现插入/缺失，扩增，易位遗传检测类型诊断性检查携带者检查预测性检查产前检测和植入前检查分子靶点：DNA突变，基因组改变，多态性范例FactorVLeiden/凝血酶原（诊断）囊性纤维化病（诊断，携带者，产前）脊髓型肌萎缩诊断（产前）、携带者，连锁老年性痴呆：微管相关蛋白tau(MAPT)突变分析UGT1A1多态性分析（遗传药理学）血液学应用诊断微小残留预后移植前评估和分期（详见2008WHO肿瘤分类）CDA基因多态性预测胞嘧啶核苷类似物的治疗效果及毒性JAK2突变慢性骨髓增殖性疾病（MPD）主要的诊断指标BCR-ABL融合基因经干扰素、伊马替尼治疗，评价CML预后PML-RARA融合基因经全反式维甲酸及三氧化二砷等治疗后，评价APL预后AML1-ETO融合基因AML患者预后评价TEL-AML1融合基因预测ALL治疗和预后范例39岁，女急性早幼粒形态细胞遗传学和RT-PCR检测不到PML-RARA融合基因面临问题：维甲酸治疗还是异体基因干细胞移植双末端二代测序发现细胞遗传学没能检测到改变，新的融合基因分析耗时7周ATRA治疗15个月后病人仍存活实体肿瘤易位肉瘤微卫星不稳定性遗传性非息肉性结直肠癌（HNPCC）K-RAS,EGFR,ALK突变分析BRAC1,BRAC2范例78岁，男分化不良的舌乳头状腺癌淋巴结转移化疗失败采用二代测序分析全基因组转录组发现RET癌基因上调PTEN下调传染病应用病原体检测不能培养极低滴度生长需要复杂营养或生长缓慢培养危险分子诊断快速身份鉴定法医学亲子鉴定骨髓移植物分析胎儿标本中产妇污染物的鉴定组织病理中污染和肿瘤来源葡萄胎、绒毛膜疾病检查结核诊断流式细胞仪IFN-释放试验是用PPD、ESAT-6和CFP-10刺激T细胞，然后用流式细胞仪检测IFN-阳性的CD4T细胞。这种检测只需