Figure 1.

Suggested diagnostic algorithm for evaluating a patient with suspected PCD. *Genetic panels testing for mutations in >12 disease-associated PCD genes, including deletion/duplication analysis. ^†Known disease-associated TEM ultrastructural defects include outer dynein arm defects, outer dynein arm plus inner dynein arm (IDA) defects, IDA defect with microtubular disorganization, and absent central pair, identified using established criteria (1). Of note, the presence of IDA defects alone is rarely diagnostic for PCD. ^‡In genes associated with autosomal recessive trait. ^§Or presence of variants of unknown significance. Adapted from Reference 2. CF = cystic fibrosis; nNO = nasal nitric oxide; PCD = primary ciliary dyskinesia; TEM = transmission electron microscopy.