Korean J Med > Volume 100(3); 2025 > Article
Pulmonology
The Korean Journal of Medicine 2025;100(3):122-127.
Published online June 1, 2025.
DOI: https://doi.org/10.3904/kjm.2025.100.3.122   
Molecular Methods for Tuberculosis Diagnosis and Drug Resistance Assessment
Kyung-Wook Jo
Division of Pulmonology and Critical Care Medicine, Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
분자 검사법을 통한 결핵의 진단과 내성 평가
조경욱
울산대학교 의과대학 서울아산병원 호흡기내과
Correspondence: 
Kyung-Wook Jo, Tel: +82-2-3010-6809, Fax: +82-2-3010-6968, Email: heathcliff6800@hanmail.net
Received: 18 April 2025   • Revised: 20 May 2025   • Accepted: 26 May 2025
Abstract
This article reviews the principles and clinical interpretation of molecular diagnostic tests for tuberculosis, focusing on Xpert MTB/RIF Ultra, line probe assays, whole genome sequencing, and targeted next-generation sequencing. These molecular tools provide rapid and accurate detection of Mycobacterium tuberculosis and its drug resistance profiles. Special attention is given to the discordance between genotypic and phenotypic drug susceptibility testing, including borderline resistance, heteroresistance, and rare genetic mutations. Understanding the strengths and limitations of each method is critical for accurate diagnosis, appropriate treatment selection, and improving patient outcomes.
Key Words: Tuberculosis; Molecular diagnostic techniques; Drug resistance
주제어: 결핵; 분자 검사법; 약제 내성


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