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Updated: Jan 9, 2026

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
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Long-Read Sequencing as a Diagnostic Tool for Primary Ciliary Dyskinesia

Liora H Feshbach1, Morgan Similuk1, Laura M Amendola1

  • 1Centralized Sequencing Program, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, Maryland, USA.

Case Reports in Genetics
|December 5, 2025
PubMed
Summary

Long-read genome sequencing successfully diagnosed primary ciliary dyskinesia (PCD) in a patient with HYDIN variants. This advanced technique overcomes challenges posed by the HYDIN2 pseudogene, improving PCD molecular diagnostics.

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