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Dog DNA testing illustration

Primary Ciliary Dyskinesia (PCD) – Alaskan Malamute

Code: H790

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

Primary Ciliary Dyskinesia (PCD) is a genetic disease that results in defective cilia, the cellular structures responsible for moving fluids such as mucus.

General information

Primary Ciliary Dyskinesia (PCD) is a genetic disease that results in defective cilia, the cellular structures responsible for moving fluids such as mucus. PCD can cause severe and chronic airway infections and fertility problems. This variant of the disorder, found in the Alaskan Malamute, is caused by a recessive mutation to the gene NME5.

Specifications

Breeds

Alaskan Malamute
Gene

NME5
Chromosome

11
Mutation

c.43delA
Organ

Respiratory System
Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Autosomal Recessive

Clinical features

Affected puppies typically start presenting with symptoms of respiratory tract infections – a chronic productive cough, nasal discharge, excess mucus in the airways – several days after birth.

References

Pubmed ID: 31479451

Year published: 2019

Omia ID: 2206

Omia variant ID:

Turnaround information

  • 15 working days