Clinical Utility of NGS-Based Diagnosis in Primary Ciliary Dyskinesia: Experience from a Brazilian Pediatric Cohort at a Reference Center for Rare Diseases.

doi:10.3390/genes17070767

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Clinical Utility of NGS-Based Diagnosis in Primary Ciliary Dyskinesia: Experience from a Brazilian Pediatric Cohort at a Reference Center for Rare Diseases.

Genes - 30 Jun 2026

Costa Patrícia F Barreto M, Fins Danielle de Freitas F M, de Oliveira Moraes Isabelle, Folescu Tania Wrobel, Cohen Renata Wrobel Folescu, Chaves Rabelo Natana, Azevedo Barreto Leticia, Vieira da Cunha Moreira Julia, Barbosa Abdala Bianca, Naccarato Teixeira Lopes Andrade Mariana, Llerena Juan, Horovitz Dafne, Gomes Maria Eduarda, Gonzalez Sayonara

Abstract excerpt

Background: Primary ciliary dyskinesia (PCD) is a rare and genetically heterogeneous disorder that remains underdiagnosed in low- and middle-income countries, largely due to limited access to specialized diagnostic tests. Genetic analysis has become an essential component of PCD diagnosis, particularly where functional and ultrastructural evaluations are unavailable. Methods: We conducted an investigational study...

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Identifiers

PMID: 42510807
DOI: 10.3390/genes17070767
PMCID: PMC13410081

Genes

BRCA2
FGFR3
GC

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