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July 14, 2025

MLDP-AS: An Optimized Next-Generation Sequencing Assay for Enhanced Detection of Technically Challenging Variants in Expanded Carrier Screening

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Authors

ZZZhenhua ZhaoGZGanye ZhaoSLShaojun Li

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Overview

Novel multiplex long-distance PCR assay improves detection of complex variants in carrier screening, indicating high sensitivity and clinical applicability.

Key Points

  • MLDP-AS achieved 100% sensitivity, identifying all 255 pathogenic variants in known positive samples, including complex variants.
  • A prospective trial of 5,209 individuals revealed an overall carrier rate of 22.15% across targeted disorders.
  • 289 pathogenic variants were detected 1,290 times, demonstrating robust performance for complex variant detection.
  • The assay offers a rapid and cost-effective solution, providing results within three days at under $25 per test.

Cite This Study

Zhao et al. (2025) studied this question.

synapsesocial.com/papers/689a02b6e6551bb0af8cc2e4https://doi.org/10.21203/rs.3.rs-6880217/v1
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