Genetic Testing for Primary Ciliary Dyskinesia

Why genetics matters in PCD

Primary ciliary dyskinesia is caused by pathogenic variants in one of more than 50 genes that build or maintain the motile cilia lining the airways, sinuses, middle ear and, in some patients, the structures that determine left-right body asymmetry.

A confirmed genetic diagnosis can end a long diagnostic journey, guide genetic counselling for the wider family, and in some cases point toward gene-specific clinical trials.

How the test is done

A blood or saliva sample is sent for a targeted gene panel or whole-exome sequencing covering the known PCD genes. Turnaround is typically several weeks.

Panels are usually read alongside nasal nitric oxide measurement and, where available, high-speed video microscopy or transmission electron microscopy of a nasal or bronchial ciliary biopsy, because no single test is sensitive enough on its own.

Common gene groups and typical ciliary findings

A small selection of the genes most frequently implicated, for illustration only.

If a variant is found

A positive result is usually reviewed with a clinical geneticist, who can explain inheritance pattern (most PCD genes are autosomal recessive), recurrence risk for future pregnancies, and whether relatives may wish to be tested.

What genetic testing cannot tell you