Primary ciliary dyskinesia (PCD)
LABOKLIN Service ID: 8483
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.
| Method | TaqMan SNP assay, if necessary sequencing (Old English Sheepdog); sequencing (Alaskan Malamute) |
| Breed list | Alaskan Malamute, Old English Sheepdog |
| Heredity | autosomal recessive |
| Duration | 3 - 5 days after arrival of the sample in the lab (in case of sequencing 1 - 2 weeks) (Old English Sheepdog); |