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); 1-2 weeks after arrival of the sample in the lab (Alaskan Malamute)