Primary ciliary dyskinesia (PCD)
Primary ciliary dyskinesia (PCD)
General description
Primary ciliary dyskinesia is characterized by recurrent infections of the respiratory tract as well as reduced male fertility. The underlying cause is a motility defect in the respiratory cilia responsible for airway clearance and in the flagella responsible for propelling sperm cells.
Breeds
Alaskan Malamute, Old English Sheepdog
Order details
Test number | 8483 |
Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
Test duration | 3-14 working days |
Test specifications
Inheritance | autosomal recessive |
Detailed description
This syndrome is characterized by recurrent infections of the respiratory tract as well as reduced male fertility. Around 50% of the affected patients develop situs inversus (Kartagener syndrome). The underlying cause is a motility defect in the respiratory cilia responsible for airway clearance and in the flagella responsible for propelling sperm cells.