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实施长读测序用于家族地中海热病的常规分子诊断

X Vanhoye¹, P Mouty¹, S Mouty¹

¹Eurofins Biomnis, Lyon, France.

Practical laboratory medicine

|September 4, 2024

概括

长读测序现在已经在临床上得到验证,用于诊断家族地中海热病 (FMF). 这种准确,具有成本效益的方法可以识别MEFV基因中引起疾病的变异,从而推进精准医学.

科学领域:

基因组学就是基因组学.
临床诊断临床诊断临床诊断
生物信息学是一种生物信息学.

背景情况:

长读序列 (LRS) 显示出临床诊断的前景,特别是在传染病中.
虽然LRS尚未成为人类疾病的常规,但它可以检测出对于衰退性疾病至关重要的内部和相位变异.
家庭地中海热 (FMF) 是一种遗传性疾病,通常需要精确的变体识别.

研究的目的:

将LRS整合到MEFV基因的临床诊断工作流程中,这是FMF的原因.
评估基于纳米孔的LRS工作流程用于FMF诊断的性能和临床实用性.
确保工作流程符合临床诊断的ISO15189标准.

主要方法:

开发了一个基于纳米孔的LRS工作流程,包括远程PCR,库准备和GridION测序.
该工作流程使用39个患者样本和3个外部质量评估样本进行了验证.
公司内部的生物信息管道被用于数据分析.

主要成果:

该LRS工作流显示出出色的性能,满足ISO15189对可重复性,可重复性,灵敏性和特异性的要求.
自2022年10月以来,150个患者样本已成功分析,没有失败.
该研究确定了MEFV基因中的各种致病性和可能致病性变体,包括同卵性和复合异卵性病例.

结论:

这项研究是第一个将LRS整合到FMF临床诊断中,实现100%的灵敏度和特异性.
通过识别致病变体而没有父母隔离分析,LRS可实现快速,经济高效和准确的诊断.
成功实施为LRS在诊断其他基础性人类疾病中的应用铺平了道路,促进了精准医学.

关键词:

临床诊断临床诊断临床诊断家庭地中海热病家族性地中海热病长读序列的测序方式纳米孔技术是纳米孔技术.

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