Comparative Costs and Diagnostic Yields of Next-Generation Sequencing Versus Muscle Biopsy for Multiplex Ligation-Dependent Probe Amplification-Negative Duchenne Muscular Dystrophy

Abstract

Objectives To compare diagnostic sensitivity, time to diagnosis, and costs of next-generation sequencing (NGS) with biopsy in multiplex-ligation-dependent-probe-amplification-negative Duchenne muscular dystrophy. Methods This retrospective, observational study was conducted at a major tertiary care hospital in Bangkok, Thailand. We reviewed medical records of affected children managed between June 2003 and April 2023. Data collected included the time from first clinical presentation to definitive diagnosis and total hospital charges. Hospital charges were converted to 2024 United States Dollars (USD) an exchange rate of 1 USD = 36.74 Thai Baht (THB) for standardized comparison. Medians for continuous variables were compared using the Mann-Whitney U test. Results Of 52 included patients; 35 underwent biopsy and 17 underwent NGS. Biopsy confirmed Duchenne muscular dystrophy in 32 cases (91.4 %), whereas NGS identified pathogenic variants in all 17 (100 %). The median diagnostic interval was identical (3.0 years; biopsy interquartile range [IQR] 2.0-5.0, NGS IQR 3.0-5.0; P = .593). For investigations from 2013 onward, the median direct cost per patient was higher for biopsy (USD 1031.8; IQR 937.7-1185.6) than for NGS (USD 711.8; IQR 537.8-981.4; P = .0004). Cost per confirmed case likewise favored NGS (USD 952.6 versus USD 756.9). Conclusions NGS delivers superior diagnostic accuracy and was more cost-effective, demonstrating a lower cost per detected case without prolonging the time to diagnosis. Despite limited numbers and the absence of a full economic model, these real-world data suggest that NGS may be a cost-effective diagnostic strategy in this setting and support consideration of reimbursement within Thailand’s healthcare system.