相关实验视频

Updated: Jul 28, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

在患有白血病的儿童中进行基因检测的实用性

Ayelet Zerem¹, Stephanie Libzon², Liat Ben Sira³

¹Pediatric Neurology Institute, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Sackler Faulty of Medicine, Tel Aviv University, Tel Aviv, Israel.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

|June 2, 2023

概括

基因检测,特别是下一代测序 (NGS),显著改善了诊断产量,并加快了怀疑白血病的儿童的诊断. 早期诊断对于获得新兴的向治疗至关重要.

科学领域:

儿科神经学儿科神经学
医学遗传学医学遗传学
神经科学是一个神经科学.

背景情况:

白血病是一种罕见的单一性白质疾病,影响儿童.
准确的诊断对于管理和治疗至关重要.
评估诊断实用性和及时性至关重要.

研究的目的:

评估基因测试在诊断儿科白血病的有效性.
分析从症状出现到诊断的时间.
为了比较不同遗传检测方法的诊断产量.

主要方法:

怀疑白血病缩症儿童的回顾性队列研究 (2019年6月至2021年12月).
对临床,分子和神经成像数据的审查.
在各种遗传测试中比较诊断产量,包括外体测序和单基因测序.

主要成果:

基因检测的高诊断产量 (89.6%),在60/67名患者中识别了致病变体.
外体序列测定显示出最高的诊断产量 (82.9%).
下一代测序 (NGS) 的可用性与更短的诊断时间相关 (12个月与19个月).

结论:

下一代测序 (NGS) 为怀疑儿童白血病的诊断提供了最高的收益率.
先进的测序技术加速了诊断,这对于新兴的向疗法至关重要.
及时的基因诊断对于改善患者的治疗结果至关重要.

关键词:

遗传性白细胞大脑病变是一种遗传性白细胞大脑病变.在白血病中,白血病缩症 (leukodystrophy) 是一种疾病.这就是为什么MRI是MRI.下一代测序测序是什么白质是白质的组成部分.

更多相关视频

In Vivo Modeling of the Morbid Human Genome using Danio rerio

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

Published on: October 21, 2014

相关概念视频

Lysosomal Hydrolases

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...