ArticleAdvances in laboratory medicine2026
Non-invasive comparative study of HLA genotyping between urinary and blood DNA using sequencing-based typing and third-generation sequencing.
Article in Advances in laboratory medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Objectives: To evaluate the feasibility of urinary DNA as a noninvasive alternative for high-resolution HLA genotyping and validate its concordance with conventional blood-based methods. Methods: Matched urine and blood samples were collected from 11 healthy volunteers. Urinary DNA was extracted using an optimized column-based protocol, while blood DNA was processed via an automated system. High-resolution HLA typing for HLA-A, -B, -C, -DRB1, and -DQB1 loci was performed using sequencing-based typing (SBT) and third-generation sequencing (TGS), with concordance rates assessed between sample types. Results: The average concentration of urinary DNA exhibited significantly lower concentrations than blood DNA (9.74 ± 10.52 vs. 33.13 ± 26.78 ng/μL, p = 0.001) but comparable purity (OD 260/280 ratio: 1.65 ± 0.4 vs. 1.81 ± 0.13, p = 0.068). Remarkably, both SBT and TGS achieved 100 % concordance between urine- and blood-derived genotypes across five classical HLA loci, with TGS resolving full-length HLA sequences (5'UTR-3'UTR) at ≥30× coverage. Conclusions: Urinary DNA achieves blood-comparable accuracy in noninvasive HLA genotyping. Our optimized protocol overcomes DNA yield and purity limitations through dual-platform validation (SBT/TGS), establishing urine as a clinically viable alternative for HLA profiling, especially where blood sampling is unfeasible.
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