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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 number8483
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration3-14 working days
Test specifications
Inheritanceautosomal 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.

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