NO to either
Extended genetic testing panel
b
Biallellic pathogenic
variants in PCD-
associated gene
Single pathogenic variant
in PCD-associated gene
e
No pathogenic variants in
PCD-associated genes
e
Diagnosis of PCD
Electron microscopy of ciliary
ultrastructure
Recognized ciliary
ultrastructural defect
g
Normal ciliary
ultrastructure
Inadequate sample or
indeterminate analysis
Diagnosis of PCD
PCD Still Possible
h
Unknown
Consider repeat TEM or
referral to PCD specialty
center
