Diagnosis of Primary Ciliary Dyskinesia via Whole Exome Sequencing and Histologic Findings

CONCLUSION: Through this study, we were able to confirm the value of WES as one of the diagnostic tools for PCD, which increases with TEM, rather than single gene tests. These results will prove useful to hospitals with limited access to PCD diagnostic testing but with relatively efficient in-house or outsourced access to genetic testing at a pre-symptomatic or early disease stage.PMID:38154480 | DOI:10.3349/ymj.2023.0238

Source: Yonsei Medical Journal - December 28, 2023 Category: Universities & Medical Training Authors: Jiyoung Oh Jin-Sung Lee Moo Suk Park Young Ae Kang Hyung-Ju Cho Song Yee Kim Jinsei Jung Sun Och Yoon Kyung Won Kim Source Type: research