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1、几家代表性医院检验科现开展检验工程Johns Hopkins Medical Laboratories工程简介华中医院检验科工程简介协和医院检验科工程简介中山达安基因工程简介肿瘤个体化用药常用工程简介我的思索Johns Hopkins Medical Laboratories600 North Wolfe StreetMeyer B-130Baltimore, MD 21287-7070Phone 410-955-2405Fax 410-614-0455 JHML ServicesBlood Disorders & Special Coagulation 临检和凝血Clinical Chemi
2、stry 生化Cytokine 细胞因子HIV Specialty Services HIV筛查Immunology 免疫Medical Microbiology 医学微生物Molecular Pathology & Cytogenetics分子病理和细胞基因Neoplastic Hematopathology & Flow Cytometry血液病理和流式细胞仪Transfusion Medicine 血库Cardiovascular Panel心血管工程组合 Test abnormalities in this panel correlate with an increased risk
3、of cardiovascular disorders. Factor VII ActivityFibrinogen ActivityHomocysteine (special collection)Lipoprotein (a)Plasminogen Activator Inhibitor-1 (PAI-1)Prothrombin Fragment 1.2Tissue Plasminogen Activator AntigenCirculating Anticoagulant and Lupus Anticoagulant循环抗凝和狼疮抗凝A basic screening panel fo
4、r factor deficiencies and the detection of inhibitors.APTTMixing Studies (APTT)Mixing Studies (PT)PT (Prothrombin Time)Platelet Neutralizationd-RVVT, with confirmAnti-cardiolipen Antibody, IgG, IgM, IgAAnti-B2 GP1 antibodies, IgG, IgM, IgA Abnormal PT and/or APTT Evaluation普通凝血检查This panel is used t
5、o evaluate the cause of an abnormal protime or activated partial thromboplastin time.APTTAPTT Mixing StudiesHepzyme (Test for heparin contamination)PT (Prothrombin Time)PT (Prothrombin Time) Mixing StudiesPlatelet NeutralizationDDAVP Challenge血管加压素耐受性The panel is used to evaluate the response of mil
6、d hemophilia and von Willebrand disease patients to DDAVP.Factor VIII ActivityRistocetin CoFactor assayWF AntigenHEME-8 (pre - post)DIC ScreenDIC筛查The DIC screen is useful in the diagnosis and follow-up of disseminated intravascular coagulation.APTTD-dimer (Quantitative)FibrinogenProthrombin TimeExt
7、rinsic Pathway Panel外凝血通路组合Panel used to evaluate and identify the cause of an abnormal prothrombin time.Factor VII ActivityFactor X ActivityFactor V ActivityFactor II ActivityIntrinsic Pathway Panel内 凝血通路组合Panel can be used to evaluate and identify the cause of an abnormal activated partial thrombo
8、plastin time.Factor XII ActivityFactor XI ActivityFactor IX ActivityFactor VIII ActivityFibrinolysis Panel纤维蛋白溶解组合The fibrinolysis panel may be used to monitor or diagnose acquired or congenital abnormalities of the fibrinolytic system. alpha-2-Antiplasmin D-dimer Quantitative Fibrinogen Degradation
9、 Products Plasminogen Activator Inhibitor-1 (PAI-1) Plasminogen Activity Tissue Plasminogen Activator AntigenLupus Anticoagulant (Antiphospholipid Screen)狼疮抗凝(抗磷脂筛查A basic screening panel for the detection of lupus-like inhibitors. The profile may also be used for patients with an unexplained prolon
10、ged prothrombin time or APTT. Anticardiolipin Antibody (ELISA) APTT and Mixing Studies D-RVVT (Dilute Russell Viper Venom) and Mixing Studies PT (Prothrombin Time) and Mixing Studies Platelet Neutralization Test if evidence for an inhibitorPlatelet Function Panel 血小板功能组合Panel used to identify platel
11、et function problems. PFA-100 Bleeding Time Clot Retraction Platelet Aggregation Platelet Secretion (ATP release) Flow cytometry studies if indicated Prothrombin Consumption TestThrombotic Risk Panel 血栓风险组合The thrombotic risk panel is a comprehensive group of tests for evaluating patients with hyper
12、coagulable states. Activated Protein C Resistance and Factor V LeidenAntithrombin III ActivityDilute Russells Viper Venom (D-RVVT)Fibrinogen Activity, Fibrinogen AntigenHomocysteine (special collection)Lipoprotein (a)Lupus Anticoagulant ScreenPlasminogen Activator Inhibitor 1 (PAI-1)Plasminogen Acti
13、vityC ActivityProtein C AntigenProtein S Activity Protein S Antigen TotalThrombin TimeTissue Plasminogen Activator AntigenProthrombin Gene MutationThrombotic Risk Screen血栓风险筛检A group of basic tests used to screen patients for only the most common causes of thrombosis.Activated Protein C ResistanceAn
14、tithrombin III ActivityD-RVVTHomocysteine (special collection)Protein C ActivityProtein S Activityvon Willebrand Panel血管性血友病因子This panel is for the evaluation of suspected von Willebrand disease.APTTFactor VIII ActivityRistocetin CofactorvWF AntigenvWF Multimers as neededMarkers of Hyper-Coagulation
15、高凝形状标志物Prothrombin fragment 1,2Plasma p-SelectinThromboxaneBeta-ThromboglobulinPF4Miscellaneous Bleeding Disorders各种出血紊乱Factor XIII ActivityProtein Tests 特种蛋白Cryoglobulin Screen with reflex to immunofixation electrophoresis for positives CSF IgG Index by nephelometry CSF IgG (IgG/ Total Protein as %
16、) Electrophoresis, Protein, serum Electrophoresis, Protein, serum with immunoglobulin quantitations and immunofixation electrophoresis Electrophoresis, Protein, 24-hour urine or random urine: includes total protein Electrophoresis, Protein, 24-hour urine or random urine: includes total protein, immu
17、noglobulin quantitations and immunofixation electrophoresis Electrophoresis, Bence Jones Protein, 24-hour urine or random urine includes total protein and immunofixation electrophoresis Haptoglobin by nephelometry IgA, Serum by nephelometry IgG, Serum by nephelometry IgM, Serum by nephelometry Preal
18、bumin by nephelometryAutoimmune Disease Tests本身免疫ANA Screen with reflex to titer and pattern for positives by IFA C3 by nephelometry C4 by nephelometry Cyclic Citrullinated Peptide (CCP) IgG by EIA dsDNA Screen with reflex to titer for positives by IFA Jo-1 antibody by EIA Mitochondrial antibody wit
19、h reflex to titer for positives by IFA Rheumatoid Factor by nephelometry Scleroderma antibody (Scl-70) by EIA Sjogrens antibody (SS-A) by EIA Sjogrens antibody (SS-B) by EIA Sm antibody by EIA RNP antibody by EIA Smooth Muscle antibody with reflex to titer for positives by IFAInfectious Disease Sero
20、logy Tests各种传染病细菌学检查Anti-Streptolysin O by nephelometry CMV IgG by EIA CMV IgM by MEIA EBV IgG (EA, VCA, EBNA) by EIA EBV IgM by IFA Helicobacter pylori IgG by EIA HSV IgG by EIA HSV IgM by EIA Lyme Disease by EIA with reflex to Western Blot for positive and equivocal results Mononucleosis Screen by
21、 agglutination Mumps IgG by EIA Rubella IgG by MEIA Rubeola IgG (measles) by EIA Syphilis Serology by RPR with reflex to titer and FTA if positive Toxoplasma IgG by MEIA Toxoplasma IgM by MEIA VZV (Varicella zoster) IgG by EIA VDRL by microflocculation West Nile IgM by EIAHIV-1 p24 Antigen Testing (
22、Direct and ICD) Qualitative and Quantitative HIV-1 Plasma and PBMC Culture Test Qualitative DNA PCR Testing Quantitative HIV-1 RNA Testing Molecular Diagnostics LaboratoryWe provide a multitude of clinical testing for leukemia, lymphoma, solid tumors, colorectal cancer predisposition, and hematologi
23、c mutations.Leukemia白血病RFLP - This test is performed on bone marrow transplant (BMT) patients and their donors before BMT to identify an informative probe, and then after BMT on the patient to monitor the status of the graft.IgH PCR - This test identifies B-cell clonality in leukemia and lymphoma.TC
24、R-Gamma PCR - This test identifies T-cell clonality in leukemia and lymphoma.BCR-ABL RT-PCR - This test identifies the t(9:22) BCR/abl gene translocation (Philadelphia chromosome) present in more than 99% of CML and frequently in all.Lymphoma淋巴瘤BCL2/IgH PCR - This test identifies the t(14:18) BCL2/I
25、gH gene translocation (major and minor breakpoint regions) seen in follicular lymphoma and large cell lymphoma.Specialty tests特殊检查APC I1307K -This test identifies the hereditary predisposition for colorectal cancer in the Ashkenazi Jewish population.Leukemia白血病Flow Cytometry (Phenotypic Characteriza
26、tion, Residual Disease Detection)Morphology Consultations - Blood and MarrowCytogenetics (in collaboration with the Cytogenetics Laboratory)Molecular Diagnostics (in collaboration with the Molecular Diagnostics Laboratory)Lymphoma淋巴瘤Flow Cytometry (Phenotypic Characterization, Staging, Residual Dise
27、ase Detection, Fine Needle Aspirates)Morphology Consultations - Lymph Node and other Tissue BiopsiesImmunohistochemistryMolecular diagnostics (in collaboration with the Molecular Diagnostic Laboratory)Specialty Tests特殊检查CD34 CountingPNH (Paroxysmal Nocturnal Hemoglobinuria) Diagnosis阵发性睡眠性血红蛋白尿 Bact
28、eriology 细菌Molecular Microbiology 分子微生物Mycobacteriology 结核菌Mycology 真菌Parasitology 寄生虫Virology 病毒Special Pathogen DetectionActinomyces spp.: Culture; PCR Bordetella pertussis: Culture;PCR Legionella pneumophila: Culture; Direct fluorescent antibody; PCR Mycoplasma pneumoniae: PCR Mycoplasma hominis/
29、Ureaplasma urealyticum: Culture Bartonella spp.: Culture; PCR Chlamydia pneumoniae: PCR Chlamydia trachomatis: Culture; PCR Ehrlichia/Anaplasma: PCR Borrelia burgdorferi: Culture; PCR Neisseria gonorrheae: Culture; PCRBacterial Identification Gas-liquid chromatography of glucose metabolic end produc
30、ts for anaerobe identification. Cell wall fatty acid analysis for speciation of non-fermenting or uncommon isolates.16S ribosomal RNA gene sequence analysis for identification.Toxin TestingStaphylococcus aureus Panton-Valentine leukocidinShiga-like toxins 1 and 2Clostridium difficile toxin by antige
31、n and cytotoxic methodsAntibiotic Susceptibility Testing and MonitoringAgar dilution susceptibility testing (MIC)Antibiotic bacteriocidal determination (MIC/MBC)Antibiotic serum activity (Schlichter test - MID/MBD)Antibiotic synergy testingAntibiotic serum level determinationsMolecular determination
32、 of antibiotic resistance genesMethicillin resistance (mecA)Vancomycin resistance (vanA; vanB; vanC)Molecular EpidemiologyPulsed-field gel electrophoresis (PFGE)Restriction fragment-length polymorphisms (RFLP)Epstein-Barr virus (EBV) detection and quantification by PCR Parvovirus B19 PCR detection B
33、K virus detection and quantification by PCR JC virus detection by PCR Cytomegalovirus (CMV) PCR detection Varicella-Zoster virus (VZV) PCR detection Hepatitis C virus (HCV) quantification by PCR HCV genotype identification by direct sequencing Hepatitis B virus quantification by PCR Adenovirus detec
34、tion by PCR Enterovirus detection by PCR High Risk HPV detection (HC-2, Digene) Ehrlichia chaffeensis and Anaplasma phagocytophila (HGE agent) PCR detection Atypical pneumonia pathogen detection by PCR (Mycoplasma pneumoniae, Legionella pneumophila, Chlamydia pneumoniae) Bacterial identification by
35、16S ribosomal RNA gene sequencing Molecular epidemiology by PFGE or RFLP Staphylococcus enterotoxin and TSST-1 gene and Shiga-like toxin gene identification by PCR Bordetella pertussis PCR Detection MycobacteriologyMycobacteria species identification and susceptibility testing, especially for patien
36、ts with multiply resistant pathogens, is beyond the routine testing available in most hospital laboratories. The Johns Hopkins Hospital Mycobacteriology Laboratory offers the following testing:Culture/smear Speciation Mycobacterial blood culture Routine susceptibility testing for M. tuberculosis Sus
37、ceptibility testing for select non-specific mycobacteria upon request PCR for M. tuberculosis from smear positive respiratory (only) specimensMycologyMost clinical laboratories can only identify common fungi, but the Hospitals diverse patient base gives the Microbiology Laboratory experience testing
38、 for speciation of unusual organisms andfor performing yeast in vitro susceptibility testing.Fungal identification (yeast, dimorphics, filamentous) 真菌鉴定Cryptococcus antigen detection (隐球菌抗原检测Fungal culture 真菌培育Direct microscopic examination 直接镜检KOH Calcofluor white 荧光染色,用于鉴别孢子虫)GiemsaYeast in vitro
39、susceptibility testing 酵母菌体外药敏实验Amphotericin B 二性霉素BItraconazole 伊曲康唑Voriconazole 伏立康唑Fluconazole 弗康唑5-fluorocytosine 5-弗胞嘧啶Caspofungin卡波芬净ParasitologyThe Microbiology Laboratory has extensive experience diagnosing problems in international populations exposed to unfamiliar parasites, cancer patient
40、s who are immune-suppressed, and HIV-infected patients who are prone to develop unusual infections.Malaria and other blood parasites detection and identification 疟原虫和其他血寄生虫的鉴别Cryptosporidium and Isospora identification 隐孢子虫Microsporidium ssp. identification 小孢子虫Pneumocystis carinii identification 卡氏
41、肺囊虫Giardia lamblia identification肠兰伯式鞭毛虫 VirologyThe Virology Laboratory within the Division of Medical Microbiology uses many different cell lines for culture, applies new methodologies for rapid and early identification of pathogenic viruses, and performs viral susceptibility determinations rarely
42、 performed in other laboratories. Respiratory virus (respiratory syncytial virus (RSV), influenza A, influenza B, parainfluenza viruses 1-3, adenovirus) rapid antigen detection and culture 呼吸道病毒Herpes simplex culture单纯疱疹 Cytomegalovirus (CMV) culture巨细胞病毒 Cytomegalovirus (CMV) culture-early antigen
43、Cytomegalovirus (CMV) quantification by PCR Varicella-Zoster virus (VZV) culture水痘-带状疱疹病毒Enterovirus culture 肠道病毒Adenovirus culture 腺病毒Other Viral cultures 其他病毒Viral susceptibility 病毒药敏Molecular Virology (see Molecular Microbiology)分子病毒学 华中医院检验科独特工程游离脂肪酸Free fatty acids,FFA 3-甲氧基-4羟基苦杏仁酸Vanillylmand
44、elic acid,VMA 抗酒石酸酸性磷酸酶Tartrate resistant acid phosphatase-5b,TRAP-5b 人巨细胞病毒载量HCMV viral load 沙眼衣原体DNACT-DNA 淋球菌DNANG-DNA 疱疹病毒I、II DNAHSV I&II-DNA HLA抗体特异性实验PRA HLA抗体筛查实验( HLA I、II antibody screening test) HLA抗原DNA分型HLA antigen detection 解脲支原体DNAUU-DNA B细胞CD19CD5 转铁蛋白 ( Transferrin,TRF ) 骨特异性碱性磷酸酶-A
45、LP T细胞亚群 ( CD3,CD4,CD8 ) 1抗胰蛋白酶 ( Alpha1-antitrypsin, AAT ) 1酸性糖蛋(Alpha1AcidGlycoprotein)(AAG ) 干扰素IFN 免疫固定电泳Immunofixation Electrophoresis, IFE可溶性白细胞介素2受体sIL-2R 可溶性细胞凋亡因子配体sFasL 可溶性细胞凋亡因子sFas 可溶性细胞间粘附分子1 sICAM-1可溶性细胞间粘附分子3sICAM-3 可溶性血管粘附分子1sVCAM-1 尿轻链定量循环免疫复合物circulating immune complex, CIC 抗凝血酶3 (
46、 Antithrombin , AT3 ) 新碟呤Neopterin白细胞介素-2IL-2 4,6,8,10,12,13结合珠蛋白 ( Haptoglobin,HPT ) 自然杀伤细胞Natural Killer Cells, NK 血管内皮生长因子VEGF肝纤 PC C LN HA MAO FN ALA* -氨基-酮戊酸-amino levulinic acid, ALA亮氨酰氨基肽酶leucine aminopeptidase,LAP 冷球蛋白cryoglobulins cryo 酸性磷酸酶acid phosphatase,ACP 磷脂phospholipid,PL VWF胶原结合分析vW
47、F collogen binding assay vWF抗原测定 ( vWF antigen determination ) X因子活性测定 ( factor X activity determination 因子活性测定 ( factor II activity determination 因子活性测定 ( factor VII activity determination ) 因子活性测定 ( factor VIII activity determination )因子活性测定 ( factor IX activity determination ) 抗碱血红蛋白(Alkali-resis
48、tant hemoglobin) 血红蛋白电泳和HbA2测定hemoglobin electrophoresis and mensuration for HbA2 高铁血红蛋白复原实验(methemoglobin reduction test) 北京协和医院检验科工程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%癌症经过组织活检确诊,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方式是按病种付费医疗机构与医保部门讨价讨价的是临床途径临床途径
49、的实施的结果是今后大组合和与诊断关系不大工程一定萎缩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,超越车祸44000,乳腺癌43000和艾滋病17000的总和经济损失美圆170-290亿质量保证是根底,包括设备/试剂Hepatitis B surface antigen mutant detection on four immunoassay analysers. ARCHITECTi2000 AXSYM Elecesys Vitros Mutant detection 12/12 12/12 7/12 6/12 Turn-arou
50、nd time 30m 30 m 20 m 38m Calibtation stability 28d 23d 28d 28d Cost per reportable(us )2.19 2.38 1.94 1.88The five discordant mutants were Pro142-Ser+Gly145-Arg;Gly145-ARG;Asp144-Ala+Gly145-Arg;Thr126-Ser+Gly145-Arg;Pro142-Leu+Gly145-Arg S.L.Saw, et al. National University Hospital Singapor个体化医疗中心-
51、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程度 免疫组化 流式细胞学 免疫荧光/电镜核酸程度 遗传学 原位杂交 PCR Microarray 测序当今有明确运用有乳腺癌: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丧失转移相关肉瘤PCR诊断微卫星不稳定性传统的检测DNA战略 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,反复改动,大插入/缺失,扩增,易位新的DNA检测战略微阵列选择,selection) 不能发现未知基因测序筛查,screening) 不适宜发现插入/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,基因组改动,多态性范例Factor V Leiden/
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