Primäre ciliäre Dyskinesie
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 |
Primary Ciliary Dyskinesia - Old English Sheepdog
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 | CCDC39 |
| Mutation | G-A |
| Literature | OMIA:001540-9615 |
