检验科新技术介绍

病原微生物方向，我科利用MALDI-TOF技术进行疑难菌和阳性血培养标本的直接鉴定，成功开展近6000例病原体鉴定，覆盖上千种病原体，疑难菌培养鉴定的阳性率显著上升，血培养时间较常规法缩短近24h。我们还建立了基于多重PCR技术的呼吸道、中枢神经系统难培养病原体筛查技术，本技术可在2小时内同时检测20余种病原体，该技术迄今已服务250人次，为超过80人找到疑似的感染病原。这两项新技术的应用显著提高了检验科对临床危重、疑难感染的服务能力。

分子遗传方面，在现有分子细胞遗传诊断平台的基础上，新开展基因检测项目150多项，建立了标准化的遗传病高通量测序实验检测、数据分析解读及报告系统，服务五千多人次，总体阳性率在45%以上，为2000多例遗传病患儿的临床确诊、治疗及遗传咨询提供了依据。

血液肿瘤方面，我们在流式细胞和基因扩增的基础上新开展白血病融合基因、基因重排、Ph-like、基因突变检测和细胞因子检测，使白细胞的诊断实现精准化、个体化，实现与国际最新指南的接轨，并通过监测细胞因子风暴，为临床Car-T新技术顺利进行提供了强有力的保障。

New Technologies in the Department of Laboratory Medicine

In field of The pathogenic microbiology, laboratory had developed a MALDI-TOF technology to directly identify the positive blood culture and non-culturable organisms. Nearly 6,000 pathogens which covered thousands of different pathogens were identified successfully. The detection of difficult bacteria cultures increased significantly. The turn around time of blood culture has been shortened by nearly 24 hours compared with the conventional method. And recently, new Multiplex PCR technology had been developed to screen over 20 non-culturable pathogens in respiratory tract and CSF samples of critical patients in 2 hours. We have served more than 250 patients so far, and help more than eighty patients find their pathogens. The application of new technologies results a significant improvement in the service ability of the laboratory for critical patients and difficult infections.

More than 150 new genetic testing have been carried out in molecular genetics. A standardized high-throughput sequencing platform including test, data analysis interpretation and reporting system for genetic diseases has been established. Up to now, more than 5,000 tests have been analyzed and more than 2.000 patients have been diagnosed by using this platform. The overall positive rate is over 45%. Provides a solid basis for the diagnosis, treatment and genetic counseling of children with genetic diseases.

In the field of hematological tumors, on the base of FACS and qPCR technology, leukemia fusion genes test, gene rearrangements, ph-like, gene mutation detection and cytokine determination have been developed in the laboratory. Based on those technology, the diagnosis of leukemia in our hospital kept up with the latest international guidelines in the era of the individualized and precision medicine. Moreover, the monitoring of cytokine storms provides a strong support for the CAR-T therapy in hematology wards.