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

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.

Primary Ciliary Dyskinesia - Alaskan Malamute

The symptoms described in this breed can be found in the text above.

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

Symptom complex	respiratory
Causality	causally
Gene	NME5
Mutation	DEL
Literature	OMIA:002206-9615

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Primary Ciliary Dyskinesia - Old English Sheepdog