Clinical Trial: Genetics of Primary Ciliary Dyskinesia

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational




Official Title: Research Genetic Testing for Primary Ciliary Dyskinesia Using a Panel of Genes

Brief Summary: This study is designed to study DNA sequencings for mutations in a research genetic test panel of genes (which contains all 32 known and/or published genes associated with PCD). The study aims to show that about 70% of PCD patients have biallelic mutations in one of these genes. This project will enroll patients who have already had a clinical evaluation, and have clinical features consistent with PCD.