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Dog DNA testing illustration

Primary Ciliary Dyskinesia (PCD) – Australian Shepherd

Code: H968

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 Australian Shepherd, is caused by a recessive mutation to the gene STK36.

Specifications

Breeds

Australian Shepherd
Gene

STK36
Chromosome

37
Mutation

c.2868-1G>A
Organ

Respiratory System
Specimen

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

Autosomal Recessive
Also known as

PCD

Clinical features

Affected dogs present within the first few months after birth with recurrent, frequent airway infections, typically including repeated bouts of sneezing and yellow or green discharge from the nose. Treatments such as corticosteroids and inhalation therapy can help treat symptoms, but the dog will remain vulnerable to subsequent infections.

References

Pubmed ID: 36786090

Year published: 2023

Omia ID: 2623

Omia variant ID:

Turnaround information

  • 15 working days