Primary ciliary dyskinesia (PCD)
Primary ciliary dyskinesia is characterized by recurrent infections of the respiratory tract as... mehr
Erkrankung
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.
Erbgang
autosomal recessive
Testdauer
3-5 days after arrival of the sample in the lab (in case of sequencing 1-2 weeks) (Old English Sheepdog); 1-2 weeks after arrival of the sample in the lab (Alaskan Malamute)
